Diprosopus associated with neural tube defect and facial cleft in the first trimester.

PubMed

Bulbul, Y; Drummond, C L; Hillion, Y; Bidat, L; Ville, Y

2004-01-01

We report a case of diprosopus presenting with increased nuchal translucency of 5.3 mm at 14 weeks of gestation. Ultrasonographically, the fetus presented with micrognathia, anterior indentation of the cephalic pole, abnormal cerebral hemispheres with a cystic 4th ventricle and angulation of the spine. The fetal karyotype was normal (46,XX). Following termination of pregnancy, postmortem examination established the diagnosis of diprosopus tetraophthalmus with facial cleft of the 2 faces. Copyright 2004 S. Karger AG, Basel

A chronicle of Tessier no. 0 and 1 facial cleft and its surgical management.

PubMed

Jhamb, Aakarsh; Mohanty, Sujata

2009-06-01

Description and successful management of a patient with Tessier no. 0 and 1 facial cleft is being presented. This bizarre coexistence of two of the rare facial clefts in a single patient deserves a place in the cleft database. Appropriate evaluation was done to rule out the presence of median cleft face syndrome. Lip cleft was repaired by straight line technique with staggering at the vermilion border. Nasal cleft was reconstructed by replacing the missing lower lateral cartilage with conchal cartilage via endonasal approach. Satisfactory outcome was achieved for this singular deformity by conforming to the basic tenets of plastic surgery.

Branchial cleft cyst: A case report and review of literature

PubMed Central

Chavan, Surekha; Deshmukh, Revati; Karande, Prasad; Ingale, Yeshwant

2014-01-01

First branchial cleft anomaly is a rare disease of the head and neck. Because of its rarity, first branchial cleft anomaly is often misdiagnosed and results in inappropriate management. In this article, we present a case of type II first branchial cleft anomaly. A middle-aged woman who had suffered from swelling on lower jaw visited our department with the chief complaint of a swelling. She underwent complete excision of the lesion with preservation of the facial nerve. The patient recovered well and had no recurrence at 1-year of follow up. PMID:24959062

Tessier 3 Cleft in a Pre-Hispanic Anthropomorphic Figurine in El Salvador, Central America.

PubMed

Aleman, Ramon Manuel; Martinez, Maria Guadalupe

2017-03-01

In 1976, Paul Tessier provided a numerical classification system for rare facial clefts, numbered from 0 to 14. The Tessier 3 cleft is a rare facial cleft extending from the philtrum of the upper lip through the wing of the nostril, and reaches the medial canthus of the eye. The aim of this document was to describe a pre-Hispanic anthropomorphic figurine dating from the classic period (200 A.D.-900 A.D.), which has a Tessier 3 cleft. We also discuss the documented pre-Hispanic beliefs about facial clefts.

First branchial cleft anomalies in children: Experience with 30 cases.

PubMed

Li, Wanpeng; Zhao, Liming; Xu, Hongming; Li, Xiaoyan

2017-07-01

First branchial cleft anomalies (FBCA) are rare in the clinical setting, as they account for 1 to 8% of all branchial abnormalities. The purpose of this study is to explore the relationship between the fistula tract and facial nerve and the surgical method of FBCA. This retrospective study included 30 cases of FBCA in children managed from 2009 to 2016. All patients underwent surgery to remove the tract of the FBCA. We reviewed the clinical data of the patients to obtain their demographics and management. Thirty patients (11 male and 19 female) with anomalies of FBCA were diagnosed. The ages ranged from 1 to 13 years (median, 3 years). Twenty cases had a close relationship with the parotid gland. The facial nerve was identified in 20 of the 30 patients. The tract ran deep to the facial nerve in 3 cases, superficial to it in 21 cases, and passed between the branches of the nerve in 6 cases. The facial nerve was not identified in ten patients, as the tract was superficial to it. There were 2 cases of postoperative temporary facial paralysis (2/30, 6.7%). The symptoms gradually improved after one month, 1 case had permanent facial paralysis (1/30, 3.3%), and 1 case had postoperative recurrence. Complete excision of the tract is the only way to manage FBCA, and the course of the tracts vary and have different relationships with the facial nerve. There are 3 types: Superficial, deep to the facial nerve, and between the branches of the nerve. Therefore, surgical approaches differ among the various types, and careful preoperative planning and protecting the facial nerve during resection of the tract are essential.

First branchial cleft anomalies in children: Experience with 30 cases

PubMed Central

Li, Wanpeng; Zhao, Liming; Xu, Hongming; Li, Xiaoyan

2017-01-01

First branchial cleft anomalies (FBCA) are rare in the clinical setting, as they account for 1 to 8% of all branchial abnormalities. The purpose of this study is to explore the relationship between the fistula tract and facial nerve and the surgical method of FBCA. This retrospective study included 30 cases of FBCA in children managed from 2009 to 2016. All patients underwent surgery to remove the tract of the FBCA. We reviewed the clinical data of the patients to obtain their demographics and management. Thirty patients (11 male and 19 female) with anomalies of FBCA were diagnosed. The ages ranged from 1 to 13 years (median, 3 years). Twenty cases had a close relationship with the parotid gland. The facial nerve was identified in 20 of the 30 patients. The tract ran deep to the facial nerve in 3 cases, superficial to it in 21 cases, and passed between the branches of the nerve in 6 cases. The facial nerve was not identified in ten patients, as the tract was superficial to it. There were 2 cases of postoperative temporary facial paralysis (2/30, 6.7%). The symptoms gradually improved after one month, 1 case had permanent facial paralysis (1/30, 3.3%), and 1 case had postoperative recurrence. Complete excision of the tract is the only way to manage FBCA, and the course of the tracts vary and have different relationships with the facial nerve. There are 3 types: Superficial, deep to the facial nerve, and between the branches of the nerve. Therefore, surgical approaches differ among the various types, and careful preoperative planning and protecting the facial nerve during resection of the tract are essential. PMID:28672934

Speech outcome after early repair of cleft soft palate using Furlow technique.

PubMed

Abdel-Aziz, Mosaad

2013-01-01

The earlier closure of palatal cleft is the better the speech outcome and the less compensatory articulation errors, however dissection on the hard palate may interfere with facial growth. In Furlow palatoplasty, dissection on the hard palate is not needed and surgery is usually limited to the soft palate, so the technique has no deleterious effect on the facial growth. The aim of this study was to assess the efficacy of Furlow palatoplasty technique on the speech of young infants with cleft soft palate. Twenty-one infants with cleft soft palate were included in this study, their ages ranged from 3 to 6 months. Their clefts were repaired using Furlow technique. The patients were followed up for at least 4 years; at the end of the follow up period they were subjected to flexible nasopharyngoscopy to assess the velopharyngeal closure and speech analysis using auditory perceptual assessment. Eighteen cases (85.7%) showed complete velopharyngeal closure, 1 case (4.8%) showed borderline competence, and 2 cases (9.5%) showed borderline incompetence. Normal resonance has been attained in 18 patients (85.7%), and mild hypernasality in 3 patients (14.3%), no patients demonstrated nasal emission of air. Speech therapy was beneficial for cases with residual hypernasality; no cases needed secondary corrective surgery. Furlow palatoplasty at a younger age has favorable speech outcome with no detectable morbidity. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Complete Midline Cleft of Lower Lip, Mandible, Tongue, Floor of Mouth with Neck Contracture: A Case Report and Review of Literature

PubMed Central

Rao, Anantheswar Y. N.

2015-01-01

Midline cleft of the lower lip and mandible is an extremely rare condition. Since 1819, when the first case was reported by Couronne, fewer than 80 cases have been described in the world literature so far. The cleft has also been described as facial cleft no. 30 by Paul Tessier. The condition varies in severity from a mild variety in which there is a submucous cleft and notching in the lower lip to a severe variety, involving the tongue, floor of the mouth, mandible, absent hyoid, atrophic neck muscles, and sternum. In this case report, a female child having complete midline cleft of the lower lip and mandible, with bifid tongue stuck to the floor of the mouth, absent hyoid bone and flexion contracture band extending from the confluence of the tip of the tongue, floor of the mouth, cleft mandible to the manubrium sterni is described, with special emphasis on surgical planning and management. PMID:26576245

Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome.

PubMed

van Straten, Cornelia; Butow, Kurt-W

2013-01-01

An analysis was made of three different syndromes associated with p63 gene mutations, known as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), ankyloblepharon-ectodermal dysplasia clefting syndrome (AEC or Hay-Wells) and Rapp-Hodgkin syndrome (RHS). The postoperative complications associated with their cleft reconstructions were also evaluated. Extensive demographic information, in particular of the clinical appearances, associated malformations, and the types and complications of the reconstructive surgical procedures, were recorded of these syndromic cases occurring in a database of 3621 facial cleft deformity patients. The data was analyzed using the Microsoft Excel program. A total of 10 (0.28%) cases of p63 associated syndromes were recorded: EEC (6), RHS (3), and AEC (1). The following clinical cleft appearances were noted - EEC = 6: CLA 1 -right side unilateral (female); CLAP 4 - right side (1) + left side (1) unilateral (male + female); bilateral (2) (males); hPsP 1 (female) (divided in 3 Black, 2 White, 1 Indian); RHS = 3: CLAP 2 (White males); hPsP 1 (White female); AEC = 1: CLAP bilateral (White male). Other features of the syndromes were: skin, hand, foot, tooth, hair and nail involvement, and light sensitivity. Postoperative complications included: (i) stenosis of nasal opening, especially after reconstruction of the bilateral cleft lip and the columella lengthening (2 cases), (ii) premaxilla-prolabium fusion (2 cases), (iii) repeated occurrence of oro-nasal fistula in the hard palate (4 cases), and (iv) dysgnathial development of midfacial structures (3 cases). Three different p63 associated syndromes (EEC, AEC, and RHS) were diagnosed (0.27% of the total facial cleft deformities database). The majority of the cases presented with a bilateral CLAP in males only. A number of females and males had unilateral CLA. The hPsP-cleft was recorded in females only. The associated ectodermal component most probably had a profoundly negative influence on postoperatively wound healing, which was observed in particular at the nasal openings, the premaxilla sulcus and in the hard palate mucosa. The reconstruction of p63 associated syndromes is a greater challenge than the usual cleft reconstruction to the surgeon.

Functional Analysis of SPECC1L in Craniofacial Development and Oblique Facial Cleft Pathogenesis

PubMed Central

Gfrerer, Lisa; Shubinets, Valeriy; Hoyos, Tatiana; Kong, Yawei; Nguyen, Christina; Pietschmann, Peter; Morton, Cynthia C.; Maas, Richard L.; Liao, Eric C.

2015-01-01

Background Oblique facial clefts, also known as Tessier clefts, are severe orofacial clefts, the genetic basis of which is poorly understood. Human genetics studies revealed that disruption in SPECC1L resulted in oblique facial clefts, demonstrating that oblique facial cleft malformation has a genetic basis. An important step toward innovation in treatment of oblique facial clefts would be improved understanding of its genetic pathogenesis. The authors exploit the zebrafish model to elucidate the function of SPECC1L by studying its homolog, specc1lb. Methods Gene and protein expression analysis was carried out by reverse-transcriptase polymerase chain reaction and immunohistochemistry staining. Morpholino knockdown, mRNA rescue, lineage tracing and terminal deoxynucleotidyl transferase-mediated dUTP nick end-labeling assays were performed for functional analysis. Results Expression of specc1lb was detected in epithelia juxtaposed to chondrocytes. Knockdown of specc1lb resulted in bilateral clefts between median and lateral elements of the ethmoid plate, structures analogous to the frontonasal process and the paired maxillary processes. Lineage tracing analysis revealed that cranial neural crest cells contributing to the frontonasal prominence failed to integrate with the maxillary prominence populations. Cells contributing to lower jaw structures were able to migrate to their destined pharyngeal segment but failed to converge to form mandibular elements. Conclusions These results demonstrate that specc1lb is required for integration of frontonasal and maxillary elements and convergence of mandibular prominences. The authors confirm the role of SPECC1L in orofacial cleft pathogenesis in the first animal model of Tessier cleft, providing morphogenetic insight into the mechanisms of normal craniofacial development and oblique facial cleft pathogenesis. PMID:25357034

Ocular Manifestations of Oblique Facial Clefts

PubMed Central

Ortube, Maria Carolina; Dipple, Katrina; Setoguchi, Yoshio; Kawamoto, Henry K.; Demer, Joseph L.

2014-01-01

Introduction In the Tessier classification, craniofacial clefts are numbered from 0 to 14 and extend along constant axes through the eyebrows, eyelids, maxilla, nostrils, and the lips. We studied a patient with bilateral cleft 10 associated with ocular abnormalities. Method Clinical report with orbital and cranial computed tomography. Results After pregnancy complicated by oligohydramnios, digoxin, and lisinopril exposure, a boy was born with facial and ocular dysmorphism. Examination at age 26 months showed bilateral epibulbar dermoids, covering half the corneal surface, and unilateral morning glory anomaly of the optic nerve. Ductions of the right eye were normal, but the left eye had severely impaired ductions in all directions, left hypotropia, and esotropia. Under anesthesia, the left eye could not be rotated freely in any direction. Bilateral Tessier cleft number 10 was implicated by the presence of colobomata of the middle third of the upper eyelids and eyebrows. As the cleft continued into the hairline, there was marked anterior scalp alopecia. Computed x-ray tomography showed a left middle cranial fossa arachnoid cyst and calcification of the reflected tendon of the superior oblique muscle, trochlea, and underlying sclera, with downward and lateral globe displacement. Discussion Tessier 10 clefts are very rare and usually associated with encephalocele. Bilateral 10 clefts have not been reported previously. In this case, there was coexisting unilateral morning glory anomaly and arachnoid cyst of the left middle cranial fossa but no encephalocele. Conclusions Bilateral Tessier facial cleft 10 may be associated with alopecia, morning glory anomaly, epibulbar dermoids, arachnoid cyst, and restrictive strabismus. PMID:20856062

Orthodontic Treatment Combined with Orthognathic Surgery and Simultaneous Alveolar Bone Graft of a Unilateral Complete Cleft Lip and Palate Patient: A Case Report.

PubMed

Pisek, Poonsak; Manosudprasit, Montian; Wangsrimongkol, Tasanee; Jinaporntham, Suthin; Wiwatworakul, Opas

2015-08-01

This article aimed to present a case of 22 year-old Thai female with cleft lip and palate who had malocclusion developed from dental problems, skeletal disharmony and unrepaired alveolar cleft. The treatment was orthodontic combined with one-stage surgical correction which corrected skeletal discrepancy and alveolar cleft in single operation. After treatment, the patient had improved in facial esthetics, attaining good occlusal function and continuous maxillary dental arch. This procedure can reduce morbidity, preclude a second hospitalization and the cost of two-stage surgical correction. However this is only an alternative treatment for adult cleft patients who need late alveolar bone graft and orthognathic surgery.

[Surgical correction of cleft palate].

PubMed

Kimura, F T; Pavia Noble, A; Soriano Padilla, F; Soto Miranda, A; Medellín Rodríguez, A

1990-04-01

This study presents a statistical review of corrective surgery for cleft palate, based on cases treated at the maxillo-facial surgery units of the Pediatrics Hospital of the Centro Médico Nacional and at Centro Médico La Raza of the National Institute of Social Security of Mexico, over a five-year period. Interdisciplinary management as performed at the Cleft-Palate Clinic, in an integrated approach involving specialists in maxillo-facial surgery, maxillar orthopedics, genetics, social work and mental hygiene, pursuing to reestablish the stomatological and psychological functions of children afflicted by cleft palate, is amply described. The frequency and classification of the various techniques practiced in that service are described, as well as surgical statistics for 188 patients, which include a total of 256 palate surgeries performed from March 1984 to March 1989, applying three different techniques and proposing a combination of them in a single surgical time, in order to avoid complementary surgery.

[Surgical treatment of first branchial cleft anomaly].

PubMed

Xiao, Hongjun; Kong, Weijia; Gong, Shusheng; Wang, Jibao; Liu, Shiying; Shi, Hong

2005-10-01

To identify the clinical and anatomical presentations and to discuss the guidelines for surgical management of anomalies of the first branchial cleft. Twenty-one patients with first branchial cleft anomalies were treated in our department between January 1994 and December 2004, their clinical data were retrospectively analysed. Surgery was performed on all patients. Among them 13 were males and 8 females, ranging in age from 1.5 to 33 years with an average of 15 years. Anatomically, 3 types of first branchial cleft anomalies were identified: fistulas (n = 17), cysts (n = 2), and fistula combined with cyst (n = 2). Before definitive surgery, soma patients (n = 4) underwent incision and drainage for infection owing to the difficulties in diagnosing this anomaly. Methylthioninium Chloride was used in almost all cases for tracking the fistulous during operation. Wide exposure is necessary in many cases,and a standard parotidectomy incision allows adequate exposure of the anomaly and preservation of the facial nerve. Complete removal without complications depends on a good understanding of regional embryogenesis, an awareness of the different anatomical presentations, and a readiness to identify and protect the facial nerve during resection.

A Multivariate Analysis of Unilateral Cleft Lip and Palate Facial Skeletal Morphology.

PubMed

Starbuck, John M; Ghoneima, Ahmed; Kula, Katherine

2015-07-01

Unilateral cleft lip and palate (UCLP) occurs when the maxillary and nasal facial prominences fail to fuse correctly during development, resulting in a palatal cleft and clefted soft and hard tissues of the dentoalveolus. The UCLP deformity may compromise an individual's ability to eat, chew, and speak. In this retrospective cross-sectional study, cone beam computed tomography (CBCT) images of 7-17-year-old individuals born with UCLP (n = 24) and age- and sex-matched controls (n = 24) were assessed. Coordinate values of three-dimensional anatomical landmarks (n = 32) were recorded from each CBCT image. Data were evaluated using principal coordinates analysis (PCOORD) and Euclidean distance matrix analysis (EDMA). Approximately 40% of morphometric variation is captured by PCOORD axes 1-3, and the negative and positive ends of each axis are associated with specific patterns of morphological differences. Approximately 36% of facial skeletal measures significantly differ by confidence interval testing (α = 0.10) between samples. Although significant form differences occur across the facial skeleton, strong patterns of morphological differences were localized to the lateral and superioinferior aspects of the nasal aperture, particularly on the clefted side of the face. The UCLP deformity strongly influences facial skeletal morphology of the midface and oronasal facial regions, and to a lesser extent the upper and lower facial skeletons. The pattern of strong morphological differences in the oronasal region combined with differences across the facial complex suggests that craniofacial bones are integrated and covary, despite influences from the congenital cleft.

Management of First Branchial Cleft Anomalies via a Cartilage-Splitting Technique.

PubMed

Schmidt, Richard; Conrad, David; Field, Erin; O'Reilly, Robert

2015-06-01

First branchial cleft anomalies are uncommon lesions that often present as periauricular infections. They have high recurrence rates, due in part to scarring secondary to prior infections and their management. These lesions have a close relationship with the facial nerve, and most authors recommend its identification and dissection because of this relationship. Nonetheless, facial nerve palsy has been reported in up to 15% of cases. We describe a novel technique for the management of first branchial cleft anomalies. Such lesions that presented in an infra- or postauricular location were approached via an incision through the cartilage of the pinna, between the tragus and antitragus. This technique affords direct access to the lesion without the need for facial nerve dissection. Six patients were treated. Five had prior surgery, including 3 with previous attempts at excision. There were no complications. The median follow-up was 35 months. One patient developed a recurrence. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.

Rating Nasolabial Aesthetics in Unilateral Cleft Lip and Palate Patients: Cropped Versus Full-Face Images.

PubMed

Schwirtz, Roderic M F; Mulder, Frans J; Mosmuller, David G M; Tan, Robin A; Maal, Thomas J; Prahl, Charlotte; de Vet, Henrica C W; Don Griot, J Peter W

2018-05-01

To determine if cropping facial images affects nasolabial aesthetics assessments in unilateral cleft lip patients and to evaluate the effect of facial attractiveness on nasolabial evaluation. Two cleft surgeons and one cleft orthodontist assessed standardized frontal photographs 4 times; nasolabial aesthetics were rated on cropped and full-face images using the Cleft Aesthetic Rating Scale, and total facial attractiveness was rated on full-face images with and without the nasolabial area blurred using a 5-point Likert scale. Cleft Palate Craniofacial Unit of a University Medical Center. Inclusion criteria: nonsyndromic unilateral cleft lip and an available frontal view photograph around 10 years of age. a history of facial trauma and an incomplete cleft. Eighty-one photographs were available for assessment. Differences in mean CARS scores between cropped versus full-face photographs and attractive versus unattractive rated patients were evaluated by paired t test. Nasolabial aesthetics are scored more negatively on full-face photographs compared to cropped photographs, regardless of facial attractiveness. (Mean CARS score, nose: cropped = 2.8, full-face = 3.0, P < .001; lip: cropped = 2.4, full-face = 2.7, P < .001; nose and lip: cropped = 2.6, full-face = 2.8, P < .001). Aesthetic outcomes of the nasolabial area are assessed significantly more positively when using cropped images compared to full-face images. For this reason, cropping images, revealing the nasolabial area only, is recommended for aesthetical assessments.

First branchial cleft anomalies: avoiding the misdiagnosis.

PubMed

Kumar, Rajeev; Sikka, Kapil; Sagar, Prem; Kakkar, Aanchal; Thakar, Alok

2013-07-01

First branchial cleft anomalies are a very rare entities accounting for less than 1 % of all branchial cleft malformations. They are often misdiagnosed for other cystic lesions occurring in parotid gland and inadequately treated (incision and drainage or incomplete excision) leading to multiple recurrences. We report a series of four patients who were previously operated (incision and drainage) for misdiagnosed first branchial cleft anomalies with subsequent recurrences. All patients underwent superficial parotidectomy with complete tract excision using facial nerve monitoring to prevent iatrogenic injury because of extensive fibrosis. We discuss the literature pertaining to first branchial cleft anomalies, their varied presentations and their relationship to facial nerve in parotid gland and importance of facial nerve monitoring in revision surgery.

[Relationship between Work Ⅱ type of congenital first branchial cleft anomaly and facial nerve and surgical strategies].

PubMed

Zhang, B; Chen, L S; Huang, S L; Liang, L; Gong, X X; Wu, P N; Zhang, S Y; Luo, X N; Zhan, J D; Sheng, X L; Lu, Z M

2017-10-07

Objective: To investigate the relationship between Work Ⅱ type of congenital first branchial cleft anomaly (CFBCA) and facial nerve and discuss surgical strategies. Methods: Retrospective analysis of 37 patients with CFBCA who were treated from May 2005 to September 2016. Among 37 cases with CFBCA, 12 males and 25 females; 24 in the left and 13 in the right; the age at diagnosis was from 1 to 76 ( years, with a median age of 20, 24 cases with age of 18 years or less and 13 with age more than 18 years; duration of disease ranged from 1 to 10 years (median of 6 years); 4 cases were recurren after fistula resection. According to the classification of Olsen, all 37 cases were non-cyst (sinus or fistula). External fistula located over the mandibular angle in 28 (75.7%) cases and below the angle in 9 (24.3%) cases. Results: Surgeries were performed successfully in all the 37 cases. It was found that lesions located at anterior of the facial nerve in 13 (35.1%) cases, coursed between the branches in 3 cases (8.1%), and lied in the deep of the facial nerve in 21 (56.8%) cases. CFBCA in female with external fistula below mandibular angle and membranous band was more likely to lie deep of the facial nerve than in male with external fistula over the mandibular angle but without myringeal web. Conclusions: CFBCA in female patients with a external fistula located below the mandibular angle, non-cyst of Olsen or a myringeal web is more likely to lie deep of the facial nerve. Surgeons should particularly take care of the protection of facial nerve in these patients, if necessary, facial nerve monitoring technology can be used during surgery to complete resection of lesions.

Dandy Walker Syndrome with Tessier 7 Cleft-a Rare Case Report and a Surgical Note on the Use of Vermilion Flap and Lazy W-Plasty.

PubMed

Dhupar, Vikas; Kumar, Praveen; Akkara, Francis; Kumar, Ananth

2012-09-01

The Dandy-Walker syndrome is a malformation of the brain that involves the mal-development of the cerebellum, associated with a cystic enlargement of this area, and frequently hydrocephalus. This malformation occurs in ~1 in 30,000 babies. It is seen mostly in females. Developmental anomalies like cleft lip, cleft palate, and cardiac malformation, orthopaedic and urinary structural abnormalities may also occur in 30% of the individuals. We report a case of Dandy Walker syndrome with Tessier 7 facial cleft with paramedian cleft palate in a 6 month old child. Surgical methods used to correct this anomaly include commissuroplasty, myoplasty of the orbicularis oris, and closure of the cleft cheek. Authors report a vermilion square flap technique that combines a lower lip mucocutaneous vermilion border flap with a lazy W-plasty to ensure a natural commissure and skin closure.

The double auditory meatus--a rare first branchial cleft anomaly: clinical presentation and treatment.

PubMed

Stokroos, R J; Manni, J J

2000-11-01

To discuss the embryology, classification, clinical experience with, and management of first branchial cleft anomalies. Retrospective case review. Tertiary referral center. Patients with a first branchial cleft anomaly. Surgery or revision surgery. Classifications according to Work, Olsen, Chilla; previous diagnostic and therapeutic pitfalls; outcome of intervention (including facial nerve function). Between 1984 and 1999, first branchial cleft anomalies were diagnosed in 18 patients. Surgical treatment was the treatment of choice. The authors' approach in Work type I and type 2 lesions is described, and surgical aspects of revision surgery are discussed. The importance of early establishment of the relationship of the anomaly to the facial nerve is stressed. In 8 patients, previous surgical attempts had been undertaken without establishment of the diagnosis first. After intervention, the outcome was favorable. First branchial cleft anomalies occur sporadically in ordinary clinical practice. They may go unrecognized or may be mistaken for tumors or other inflammatory lesions of in the periauricular region. However, the distinct clinical features, which can be derived from embryologic development, usually lead to the correct diagnosis. This avoids both treatment delay and eventual failure.

First Branchial Cleft Fistula Associated with External Auditory Canal Stenosis and Middle Ear Cholesteatoma

PubMed Central

Abdollahi fakhim, Shahin; Naderpoor, Masoud; Mousaviagdas, Mehrnoosh

2014-01-01

Introduction: First branchial cleft anomalies manifest with duplication of the external auditory canal. Case Report: This report features a rare case of microtia and congenital middle ear and canal cholesteatoma with first branchial fistula. External auditory canal stenosis was complicated by middle ear and external canal cholesteatoma, but branchial fistula, opening in the zygomatic root and a sinus in the helical root, may explain this feature. A canal wall down mastoidectomy with canaloplasty and wide meatoplasty was performed. The branchial cleft was excised through parotidectomy and facial nerve dissection. Conclusion: It should be considered that canal stenosis in such cases can induce cholesteatoma formation in the auditory canal and middle ear. PMID:25320705

SATB2-associated syndrome presenting with Rett-like phenotypes.

PubMed

Lee, J S; Yoo, Y; Lim, B C; Kim, K J; Choi, M; Chae, J-H

2016-06-01

The SATB2-associated syndrome (SAS) was proposed recently, after the SATB2 gene was initially discovered to be associated with isolated cleft palate. This syndrome is characterized by intellectual disability with delayed speech development, facial dysmorphism, cleft or high-arched palate, and dentition problems. Here, we describe two novel SATB2 sequence variants in two unrelated patients presenting with Rett-like phenotypes. We performed trio-based whole-exome sequencing in a 17-month-old girl presenting with severe retardation and Rett-like phenotypes, which revealed a de novo missense variant in SATB2 (p.Glu396Gln). Moreover, targeted sequencing of the SATB2 gene was performed in a 2-year-old girl with severe psychomotor retardation, facial hypotonia, and cleft palate who also exhibited some features of Rett syndrome. A nonsense variant in SATB2 was identified in this patient (p.Arg459*). This study expanded the clinical and genetic spectrum of SAS. SATB2 variants should be considered in cases with psychomotor retardation alone or in any cases with Rett-like phenotypes, regardless of the typical features of SAS such as cleft palate. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Fiberoptic Intubation Using LMA™ as A Conduit and Cook® Airway Catheter as An Exchanger in A Case of Tessier 7 Facial Cleft Syndrome

PubMed Central

Dasgupta, D; Jain, Anand; Baxi, Vaibhavi; Parab, A; Budhakar, A

2009-01-01

Summary Any anaesthesiologist handling a paediatric airway must have a detailed understanding of the differences in airway anatomy, signs and symptoms of airway compromise and common paediatric airway abnormalities. In addition to various equipments needed to manage a difficult airway, there should be a clear plan for evaluation, preparation and management of life threatening complications. We share our experience of successfully managing a difficult airway of a 5 year old child with Tessier 7 facial cleft syndrome. We emphasize the importance of preoperative evaluation, preparation and use of various airway adjuncts. PMID:20640130

[Management and classification of first branchial cleft anomalies].

PubMed

Zhong, Zhen; Zhao, Enmin; Liu, Yuhe; Liu, Ping; Wang, Quangui; Xiao, Shuifang

2013-07-01

We aimed to identify the different courses of first branchial cleft anomalies and to discuss the management and classification of these anomalies. Twenty-four patients with first branchial cleft anomalies were reviewed. The courses of first branchial cleft anomalies and their corresponding managements were analyzed. Each case was classified according to Olsen's criteria and Works criteria. According to Olsen's criteria, 3 types of first branchial cleft anomalies are identified: cysts (n = 4), sinuses (n = 13), and fistulas (n = 7). The internal opening was in the external auditory meatus in 16 cases. Two fistulas were parallel to the external auditory canal and the Eustachian tube, with the internal openings on the Eustachian tube. Fourteen cases had close relations to the parotid gland and dissection of the facial nerve had to be done in the operation. Temporary weakness of the mandibular branch of facial nerve occurred in 2 cases. Salivary fistula of the parotid gland occurred in one patient, which was managed by pressure dressing for two weeks. Canal stenosis occurred in one patient, who underwent canalplasty after three months. The presence of squamous epithelium was reported in all cases, adnexal skin structures in 6 cases, and cartilage in 14 cases. The specimens of the fistula which extended to the nasopharynx were reported as tracts lined with squamous epithelium (the external part) and ciliated columnar epithelium (the internal part). According to Work's criteria, 9 cases were classified as Type I lesions, 13 cases were classified as Type II lesions, and two special cases could not be classified. The average follow-up was 83 months (ranging from 12 to 152 months). No recurrence was found. First branchial cleft anomalies have high variability in the courses. If a patient is suspected to have first branchial anomalies, the external auditory canal must be examined for the internal opening. CT should be done to understand the extension of the lesion. For cases without internal openings in the external auditory canal, CT fistulography should be done to demonstrate the courses, followed by corresponding treatment. Two special cases might be classified as a new type of lesions.

Prenasal Thickness, Prefrontal Space Ratio and Other Facial Profile Markers in First-Trimester Fetuses with Aneuploidies, Cleft Palate, and Micrognathia.

PubMed

Bakker, Merel; Pace, Margherita; de Jong-Pleij, Els; Birnie, Erwin; Kagan, Karl-Oliver; Bilardo, Caterina M

2018-01-01

To investigate the feasibility and reproducibility of the prenasal thickness (PNT)/nasal bone length (NBL) ratio, maxilla-nasion-mandible (MNM) angle, facial profile line, profile line distance, and prefrontal space ratio (PFSR) in the first trimester of pregnancy, develop normal ranges, and evaluate these markers in abnormal fetuses. All measurements were performed on stored images by two operators. Feasibility, interoperator agreement, and prediction intervals were calculated for all measurements. Feasibility was the highest for the NBL (74.3-79.7%) and the MNM angle (75.7-79.05%). Correlation was good for the NBL, the PNT, and the MNM angle (intraclass correlation coefficient 0.706-0.835). Mean difference between operators was the lowest for the PNT and PFSR (0.03-0.08). Measurements in abnormal fetuses showed that the majority of trisomy 21 fetuses had either an absent nasal bone or a shorter NBL. The PNT and PNT/NBL ratio were above the 97.5th centile in one third of the cases. Fetuses with facial clefts or micrognathia showed on average a large MNM angle (multiple of the median 0.96-5.15). First-trimester facial markers are feasible. The PNT and PNT/NBL ratio were increased in one third of the trisomic fetuses, and the MNM angle in the majority of fetuses with micrognathia and facial clefts. © 2016 S. Karger AG, Basel.

Psychological status as a function of residual scarring and facial asymmetry after surgical repair of cleft lip and palate.

PubMed

Millar, Keith; Bell, Aileen; Bowman, Adrian; Brown, Denise; Lo, Tsz-Wai; Siebert, Paul; Simmons, David; Ayoub, Ashraf

2013-03-01

Objective : Objective measure of scarring and three-dimensional (3D) facial asymmetry after surgical correction of unilateral cleft lip (UCL) and unilateral cleft lip (UCLP). It was hypothesized that the degree of scarring or asymmetry would be correlated with poorer psychological function. Design : In a cross-sectional design, children underwent 3D imaging of the face and completed standardized assessments of self-esteem, depression, and state and trait anxiety. Parents rated children's adjustment with a standard scale. Setting : Glasgow Dental School, School of Medicine, College of Medical, Veterinary and Life Sciences. Patients : Fifty-one children aged 10 years with UCLP and 43 with UCL were recruited from the cohort treated with the surgical protocol of the CLEFTSIS managed clinical network in Scotland. Methods : Objective assessment to determine the luminance and redness of the scar and facial asymmetry. Depression, anxiety, and a self-esteem assessment battery were used for the psychological analysis. Results : Cleft cases showed superior psychological adjustment when compared with normative data. Prevalence of depression matched the population norm. The visibility of the scar (luminance ratio) was significantly correlated with lower self-esteem and higher trait anxiety in UCLP children (P  =  .004). Similar but nonsignificant trends were seen in the UCL group. Parental ratings of poorer adjustment also correlated with greater luminance of the scar. Conclusions : The objectively defined degree of postoperative cleft scarring was associated with subclinical symptoms of anxiety, depression, and low self-esteem.

Unusual association of congenital middle ear cholesteatoma and first branchial cleft anomaly: management and embryological concepts.

PubMed

Nicollas, R; Tardivet, L; Bourlière-Najean, B; Sudre-Levillain, I; Triglia, J M

2005-02-01

To report two cases of an undescribed association of first branchial cleft fistula and middle ear congenital cholesteatoma and to discuss management and embryological hypothesis. Retrospective study and review of the literature Both patients were young girls free of past medical or surgical history. Surgical removal of the first cleft anomaly found in the two cases a fistula routing underneath the facial nerve. Both cholesteatomas were located in the hypotympanum, mesotympanum. In one case, an anatomical link between the two malformations was clearly identified with CT scan. The main embryological theories and classification are reviewed. A connection between Aimi's and Michaels' theories (congenital cholesteatoma) and Work classification might explain the reported clinical association.

Postnatal craniofacial skeleton development following a pushback operation of patients with cleft palate.

PubMed

Viteporn, S; Enemark, H; Melsen, B

1991-10-01

A longitudinal growth study of the craniofacial skeleton in 52 (19 males, 33 females) Danish individuals with cleft palates was performed. Thirty (13 males, 17 females) had clefts of the soft palate only or clefts extending into the posterior third of the hard palate. Twenty-two (6 males, 16 females) had more extensive clefts including up to two-thirds of the hard palate. The cleft was closed with a pushback operation at 22 months of age. Orthodontic treatment was included in the early mixed dentition. Lateral cephalometries were obtained at 5, 8, 12, 16, and 21 years of age. Twenty-four variables were digitized and analyzed. The results indicated that patients with more extensive clefts demonstrated significantly smaller anterior cranial base length (N-S), total cranial base length (N-Ba), maxillary dentoalveolar base length (A-PMP), mandibular length (Cd-Pgn), upper anterior and posterior facial heights (N-ANS and P-PMP), and total facial height (N-Gn). Patients with the more extensive clefts reached maximum growth spurt later than patients with less extensive clefts in all dimensions except the A-PMP and the lower and total facial heights.

Three-dimensional assessment of facial asymmetry in preschool patients with orofacial clefts after neonatal cheiloplasty.

PubMed

Moslerová, Veronika; Dadáková, Martina; Dupej, Ján; Hoffmannova, Eva; Borský, Jiří; Černý, Miloš; Bejda, Přemysl; Kočandrlová, Karolína; Velemínská, Jana

2018-05-01

To evaluate facial asymmetry changes in pre-school patients with orofacial clefts after neonatal cheiloplasty and to compare facial asymmetry with age-matched healthy controls. The sample consisted of patients with unilateral cleft lip (UCL), unilateral cleft lip and palate (UCLP), and bilateral cleft lip and palate (BCLP). The patients were divided in two age groups with a mean age of 3 years (n = 51) and 4.5 years (n = 45), respectively, and 78 age-matched individuals as controls. Three-dimensional (3D) facial scans were analyzed using geometric morphometry and multivariate statistics. Geometric morphometry showed positive deviations from perfect symmetry on the right side of the forehead in the intervention groups and the controls. The UCL groups showed the greatest asymmetric nasolabial area on the cleft-side labia and the contralateral nasal tip. The UCLP group showed, moreover, asymmetry in buccal region due to typical maxillar hypoplasia, which was accentuated in the older group. The BCLP groups showed slightly similar but greater asymmetry than the control groups, except for the philtrum region. Asymmetry of each of the cleft groups significantly differed from the controls. Except for the buccal region in the UCLP and BCLP groups, asymmetry did not significantly increase with age. Copyright © 2018 Elsevier B.V. All rights reserved.

Tessier 3 cleft with bilateral anophthalmia: case report and surgical treatment.

PubMed

Sesenna, Enrico; Anghinoni, Marilena L; Modugno, Alessandra C; Magri, Alice S

2012-12-01

Tessier clefts type 3 and 4 are rare. In this paper the authors report on the management of a wide Tessier 3 cleft. There is no standardized protocol or timing of the surgical procedures in this rare disfiguring condition. Generally speaking, the aim is to preserve the function of important anatomical structures (e.g., a seeing eye.) and reconstruct, as best as possible, harmonic facial features. The authors present a "step by step" solution of the malformation pointing out the limitations of the surgical procedures they used and the goals they wanted to obtain. Despite of the uniqueness and the complexity of the pathology, the authors think they obtained reasonable results both in term of function and aesthetics, permitting the patient to be accepted in the social environment. Copyright © 2012 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

The occult submucous cleft palate.

PubMed

Kaplan, E N

1975-10-01

We have studied 41 patients with classic submucous cleft and 32 cases with occult submucous cleft. Both groups have the same anatomic abnormality that leads to velar dysfunction-the insertion of the palate muscles onto the hard palate rather than onto the midline soft palate raphe. However, the occult submucous cleft palate does not have the classic triad of bifid uvula, hard palate bony notch, and furrow in the midline of the soft palate. Characteristic facial features, cephalmetric x-rays, and cine voice studies can help make a presumptive diagnosis of occult submucous cleft palate. Surgical management includes a diagnostic palate exploration to identify muscle configuration followed by levator muscle sling reconstruction, palate pushback, and pharyngeal flap. Excellent speech results are obtained except with patients having palate paresis.

First branchial cleft fistula associated with external auditory canal stenosis and middle ear cholesteatoma.

PubMed

Abdollahi Fakhim, Shahin; Naderpoor, Masoud; Mousaviagdas, Mehrnoosh

2014-10-01

First branchial cleft anomalies manifest with duplication of the external auditory canal. This report features a rare case of microtia and congenital middle ear and canal cholesteatoma with first branchial fistula. External auditory canal stenosis was complicated by middle ear and external canal cholesteatoma, but branchial fistula, opening in the zygomatic root and a sinus in the helical root, may explain this feature. A canal wall down mastoidectomy with canaloplasty and wide meatoplasty was performed. The branchial cleft was excised through parotidectomy and facial nerve dissection. It should be considered that canal stenosis in such cases can induce cholesteatoma formation in the auditory canal and middle ear.

Preliminary Analysis of the 3-Dimensional Morphology of the Upper Lip Configuration at the Completion of Facial Expressions in Healthy Japanese Young Adults and Patients With Cleft Lip.

PubMed

Matsumoto, Kouzou; Nozoe, Etsuro; Okawachi, Takako; Ishihata, Kiyohide; Nishinara, Kazuhide; Nakamura, Norifumi

2016-09-01

To develop criteria for the analysis of upper lip configuration of patients with cleft lip while they produce various facial expressions by comparing the 3-dimensional (3D) facial morphology of healthy Japanese adults and patients with cleft lip. Twenty healthy adult Japanese volunteers (10 men, 10 women, controls) without any observed facial abnormalities and 8 patients (4 men, 4 women) with unilateral cleft lip and palate who had undergone secondary lip and nose repair were recruited for this study. Facial expressions (resting, smiling, and blowing out a candle) were recorded with 2 Artec MHT 3D scanners, and images were superimposed by aligning the T-zone of the faces. The positions of 14 specific points were set on each face, and the positional changes of specific points and symmetry of the upper lip cross-section were analyzed. Furthermore, the configuration observed in healthy controls was compared with that in patients with cleft lip before and after surgery. The mean absolute values for T-zone overlap ranged from 0.04 to 0.15 mm. Positional changes of specific points in the controls showed that the nose and lip moved backward and laterally upward when smiling and the lips moved forward and downward medially when blowing out a candle; these movements were bilaterally symmetrical in men and women. In patients with cleft lip, the positional changes of the specific points were minor compared with those of the controls while smiling and blowing out a candle. The left-versus-right symmetry of the upper lip cross-section exceeded 1.0 mm in patients with cleft lip, which was markedly higher than that in the controls (0.17 to 0.91 mm). These left-versus-right differences during facial expressions were decreased after surgery. By comparing healthy individuals with patients with cleft lip, this study has laid the basis for determining control values for facial expressions. Copyright © 2016 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

Department of Defense Report on Search for Human Radiation Experiment Records, 1944 - 1994, Volume 2

DTIC Science & Technology

1997-06-01

1-66 Serial investigation of a variety of congenital deformities of the brain case and facial skeleton and the response to treatment ...subsequent treatment of cleft lip and palate defects. The original proposal called for 100 patients and a comparison group of 100 "normals." To date, no...brain case and facial skeleton and the response to treatment . Document Type: Protocol. Document Date: 12 January 1966 Authors: Guy C. Nicholson; Thomas

Maxillary gap at 11-13 weeks' gestation: marker of cleft lip and palate.

PubMed

Chaoui, R; Orosz, G; Heling, K S; Sarut-Lopez, A; Nicolaides, K H

2015-12-01

To describe a new sign of cleft lip and palate (CLP), the maxillary gap, which is visible in the mid-sagittal plane of the fetal face used routinely for measurement of nuchal translucency thickness. This was a retrospective study of stored images of the mid-sagittal view of the fetal face at 11-13 weeks' gestation in 86 cases of CLP and 86 normal controls. The images were examined to determine if a maxillary gap was present, in which case its size was measured. In 37 (43.0%) cases of CLP the defect was isolated and in 49 (57.0%) there were additional fetal defects. In the isolated CLP group, the diagnosis of facial cleft was made in the first trimester in nine (24.3%) cases and in the second trimester in 28 (75.7%). In the group with additional defects, the diagnosis of facial cleft was made in the first trimester in 46 (93.9%) cases and in the second trimester in three (6.1%). A maxillary gap was observed in 96% of cases of CLP with additional defects, in 65% of those with isolated CLP and in 7% of normal fetuses. There was a large gap (>1.5 mm) or complete absence of signals from the maxilla in the midline in 69% of cases of CLP with additional defects, in 35% of those with isolated CLP and in none of the normal controls. The maxillary gap is a new simple marker of possible CLP, which could increase the detection rate of CLP, especially in isolated cases. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Cleft Palate; A Multidiscipline Approach.

ERIC Educational Resources Information Center

Stark, Richard B., Ed.

Nineteen articles present a multidisciplinary approach to the management of facial clefts. The following subjects are discussed: the history of cleft lip and cleft palate surgery; cogenital defects; classification; the operation of a cleft palate clinic; physical examination of newborns with cleft lip and/or palate; nursing care; anesthesia;…

The use of SymNose for quantitative assessment of lip symmetry following repair of complete bilateral cleft lip and palate.

PubMed

Russell, James H B; Kiddy, Harriet C; Mercer, Nigel S

2014-07-01

The SymNose computer program has been proposed as an objective method for the quantitative assessment of lip symmetry following unilateral cleft lip repair. This study aims to demonstrate the use of SymNose in patients with complete bilateral cleft lip and palate (BCLP), a group previously excluded from computer-based analysis. A retrospective cohort study compared several parameters of lip symmetry between BCLP cases and non-cleft controls. 15 BCLP cases aged 10 (±1 year) who had undergone primary repair were recruited from the patient database at the South West Cleft Unit, Frenchay Hospital. Frontal facial photographs were selected for measurement. 15 age-matched controls were recruited from a local school. Lip symmetry was expressed as: percentage mismatch of left vermillion border and upper lip area over the right, horizontal lip tilt and lateral deviation of the lip. A significant increase in lip asymmetry was found in the BCLP group expressed as upper vermillion border mismatch across computer-defined and user-defined midlines (mean difference was 16.4% (p < 0.01) and 17.5% (p < 0.01) respectively). The results suggest that a significant degree of lip asymmetry remains in BCLP patients even after primary repair. This challenges previous assumptions that those with bilateral defects would be relatively symmetrical. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Calvarial periosteal graft for second-stage cleft palate surgery: a preliminary report.

PubMed

Neiva, Cecilia; Dakpe, Stephanie; Gbaguidi, Cica; Testelin, Sylvie; Devauchelle, Bernard

2014-07-01

The objectives of cleft palate surgery are to achieve optimal outcomes regarding speech development, hearing, maxillary arch development and facial skull growth. Early two-stage cleft palate repair has been the most recent protocol of choice to achieve good maxillary arch growth without compromising speech development. Hard palate closure occurs within one year of soft palate surgery. However, in some cases the residual hard palate cleft width is larger than 15 mm at the age of two. As previously reported, integrated speech development starts around that age and it is a challenge since we know that early mobilization of the mucoperiosteum interferes with normal facial growth on the long-term. In children with large residual hard palate clefts at the age 2, we report the use of calvarial periosteal grafts to close the cleft. With a retrospective 6-year study (2006-2012) we first analyzed the outcomes regarding impermeability of hard palate closure on 45 patients who at the age of two presented a residual cleft of the hard palate larger than 15 mm and benefited from a periosteal graft. We then studied the maxillary growth in these children. In order to compare long-term results, we included 14 patients (age range: 8-20) treated between 1994 & 2006. Two analyses were conducted, the first one on dental casts from birth to the age of 6 and the other one based on lateral cephalograms following Delaire's principles and TRIDIM software. After the systematic cephalometric analysis of 14 patients, we found no evidence of retrognathia or Class 3 dental malocclusion. In the population of 45 children who benefited from calvarial periosteal grafts the rate of palate fistula was 17% vs. 10% in the overall series. Despite major advances in understanding cleft defects, the issues of timing and choice of the surgical procedure remain widely debated. In second-stage surgery for hard palate closure, using a calvarial periosteal graft could be the solution for large residual clefts without compromising adequate speech development by encouraging proper maxillary arch growth. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Maternal Consumption of Coffee and Caffeine-containing Beverages and Oral Clefts: A Population-based Case-Control Study in Norway

PubMed Central

Wilcox, Allen J.; Lie, Rolv T.; Andersen, Lene F.; Drevon, Christian A.

2009-01-01

A large, population-based case-control study of facial clefts was carried out in Norway between 1996 and 2001. The study included 573 cases—377 with cleft lip with or without cleft palate and 196 with cleft palate only—and 763 randomly selected controls. Maternal consumption of coffee and other caffeine-containing beverages in early pregnancy was recorded shortly after birth. Compared with that for no coffee consumption, the adjusted odds ratios for cleft lip with or without cleft palate were 1.39 (95% confidence interval: 1.01, 1.92) for less than 3 cups a day and 1.59 (95% confidence interval: 1.05, 2.39) for 3 cups or more. Coffee consumption was not associated with risk of cleft palate only (for ≥3 cups vs. none, adjusted odds ratio = 0.96, 95% confidence interval: 0.55, 1.67). Tea consumption was associated with a reduced odds ratio of both cleft lip with or without cleft palate and cleft palate only. There was little evidence of an association between caffeine exposure and clefts when all sources of caffeine were considered. Adjustment for known confounding factors in general had minor effects on risk estimates. Still, the authors could not rule out the possibility of uncontrolled confounding by factors associated with the habit of drinking coffee. PMID:19342400

Quantitative Anthropometric Measures of Facial Appearance of Healthy Hispanic/Latino White Children: Establishing Reference Data for Care of Cleft Lip With or Without Cleft Palate

NASA Astrophysics Data System (ADS)

Lee, Juhun; Ku, Brian; Combs, Patrick D.; Da Silveira, Adriana. C.; Markey, Mia K.

2017-06-01

Cleft lip with or without cleft palate (CL ± P) is one of the most common congenital facial deformities worldwide. To minimize negative social consequences of CL ± P, reconstructive surgery is conducted to modify the face to a more normal appearance. Each race/ethnic group requires its own facial norm data, yet there are no existing facial norm data for Hispanic/Latino White children. The objective of this paper is to identify measures of facial appearance relevant for planning reconstructive surgery for CL ± P of Hispanic/Latino White children. Quantitative analysis was conducted on 3D facial images of 82 (41 girls, 41 boys) healthy Hispanic/Latino White children whose ages ranged from 7 to 12 years. Twenty-eight facial anthropometric features related to CL ± P (mainly in the nasal and mouth area) were measured from 3D facial images. In addition, facial aesthetic ratings were obtained from 16 non-clinical observers for the same 3D facial images using a 7-point Likert scale. Pearson correlation analysis was conducted to find features that were correlated with the panel ratings of observers. Boys with a longer face and nose, or thicker upper and lower lips are considered more attractive than others while girls with a less curved middle face contour are considered more attractive than others. Associated facial landmarks for these features are primary focus areas for reconstructive surgery for CL ± P. This study identified anthropometric measures of facial features of Hispanic/Latino White children that are pertinent to CL ± P and which correlate with the panel attractiveness ratings.

Branchial anomalies in children.

PubMed

Bajaj, Y; Ifeacho, S; Tweedie, D; Jephson, C G; Albert, D M; Cochrane, L A; Wyatt, M E; Jonas, N; Hartley, B E J

2011-08-01

Branchial cleft anomalies are the second most common head and neck congenital lesions seen in children. Amongst the branchial cleft malformations, second cleft lesions account for 95% of the branchial anomalies. This article analyzes all the cases of branchial cleft anomalies operated on at Great Ormond Street Hospital over the past 10 years. All children who underwent surgery for branchial cleft sinus or fistula from January 2000 to December 2010 were included in this study. In this series, we had 80 patients (38 female and 42 male). The age at the time of operation varied from 1 year to 14 years. Amongst this group, 15 patients had first branchial cleft anomaly, 62 had second branchial cleft anomaly and 3 had fourth branchial pouch anomaly. All the first cleft cases were operated on by a superficial parotidectomy approach with facial nerve identification. Complete excision was achieved in all these first cleft cases. In this series of first cleft anomalies, we had one complication (temporary marginal mandibular nerve weakness. In the 62 children with second branchial cleft anomalies, 50 were unilateral and 12 were bilateral. In the vast majority, the tract extended through the carotid bifurcation and extended up to pharyngeal constrictor muscles. Majority of these cases were operated on through an elliptical incision around the external opening. Complete excision was achieved in all second cleft cases except one who required a repeat excision. In this subgroup, we had two complications one patient developed a seroma and one had incomplete excision. The three patients with fourth pouch anomaly were treated with endoscopic assisted monopolar diathermy to the sinus opening with good outcome. Branchial anomalies are relatively common in children. There are three distinct types, first cleft, second cleft and fourth pouch anomaly. Correct diagnosis is essential to avoid inadequate surgery and multiple procedures. The surgical approach needs to be tailored to the type of anomaly of origin of the anomaly. Complete excision is essential for good outcomes. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Evidence-Based Medicine: Cleft Palate.

PubMed

Woo, Albert S

2017-01-01

After studying this article, the participant should be able to: 1. Describe the incidence of cleft palate and risk factors associated with development of an orofacial cleft. 2. Understand differences among several techniques to repair clefts of both the hard and soft palates. 3. Discuss risk factors for development of postoperative fistulas, velopharyngeal insufficiency, and facial growth problems. 4. Establish a treatment plan for individualized care of a cleft palate patient. Orofacial clefts are the most common congenital malformations of the head and neck region, and approximately three-quarters of these patients have some form of cleft palate deformity. Cleft palate repair is generally performed in children between 6 and 12 months of age. The goals of palate repair are to minimize the occurrence of fistulas, establish a normal velopharyngeal mechanism, and optimize facial growth. This Maintenance of Certification review discusses the incidence and epidemiology associated with cleft palate deformity and specifics associated with patient care, including analgesia, surgical repair techniques, and complications associated with repair of the cleft palate.

Fryns anophthalmia-plus syndrome in an 18-week-old fetus.

PubMed

Jayasinghe, Caren; Gembruch, Ulrich; Kuchelmeister, Klaus; Körber, Friederike; Müller, Annette M

2012-01-01

Fryns anophthalmia-plus syndrome is a very rare condition initially described by Fryns and colleagues in 1995 in a pair of siblings of nonconsanguineous parents. Since that time, only a few cases have been reported, most of them in newborns and young children. Clinical presentation is variable and includes anophthalmia/microphthalmia, cleft lip/palate, and other facial deformities. Furthermore, skeletal, central nervous system, and endocrine anomalies have been described. We report the case of a male fetus of 18 weeks of gestation with normal karyotype and findings matching Fryns anophthalmia-plus syndrome. Pregnancy was terminated because of sonographically proven facial midline defects and a marked cerebral ventriculomegaly. Macroscopic and histological findings obtained at autopsy showed extreme bilateral microphthalmia, unilateral cleft palate, unilateral nasal deformity, and low-set ears. Skeletal anomalies included 13 pairs of ribs, premature ossification of the calcaneus, and talipes.

Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition.

ERIC Educational Resources Information Center

McDonald, Eugene T.; Berlin, Asa J.

Intended for parents of children with cleft lip and cleft palate, the booklet provides an overview of the condition. Addressed are the following topics (sample subtopics in parentheses): prenatal development and birth defects (facial development); possible causes of cleft lip/cleft palate (common misconceptions, genetic factors, environmental…

Determination of facial symmetry in unilateral cleft lip and palate patients from three-dimensional data: technical report and assessment of measurement errors.

PubMed

Nkenke, Emeka; Lehner, Bernhard; Kramer, Manuel; Haeusler, Gerd; Benz, Stefanie; Schuster, Maria; Neukam, Friedrich W; Vairaktaris, Eleftherios G; Wurm, Jochen

2006-03-01

To assess measurement errors of a novel technique for the three-dimensional determination of the degree of facial symmetry in patients suffering from unilateral cleft lip and palate malformations. Technical report, reliability study. Cleft Lip and Palate Center of the University of Erlangen-Nuremberg, Erlangen, Germany. The three-dimensional facial surface data of five 10-year-old unilateral cleft lip and palate patients were subjected to the analysis. Distances, angles, surface areas, and volumes were assessed twice. Calculations were made for method error, intraclass correlation coefficient, and repeatability of the measurements of distances, angles, surface areas, and volumes. The method errors were less than 1 mm for distances and less than 1.5 degrees for angles. The intraclass correlation coefficients showed values greater than .90 for all parameters. The repeatability values were comparable for cleft and noncleft sides. The small method errors, high intraclass correlation coefficients, and comparable repeatability values for cleft and noncleft sides reveal that the new technique is appropriate for clinical use.

Parent and child ratings of satisfaction with speech and facial appearance in Flemish pre-pubescent boys and girls with unilateral cleft lip and palate.

PubMed

Van Lierde, K M; Dhaeseleer, E; Luyten, A; Van De Woestijne, K; Vermeersch, H; Roche, N

2012-02-01

The purpose of this controlled study is to determine satisfaction with speech and facial appearance in Flemish pre-pubescent children with unilateral cleft lip and palate. Forty-three subjects with unilateral cleft lip and palate and 43 age and gender matched controls participated in this study. The Cleft Evaluation Profile was used to assess the perceived satisfaction for individual features related to cleft care. Both the cleft palate subjects and their parents were satisfied with the speech and facial appearance. The Pearson χ(2) test revealed significant difference between the cleft palate and the control group regarding hearing, nasal aesthetics and function, and the appearance of the lip. An in depth analysis of well specified speech characteristics revealed that children with clefts and their parents significantly more often reported the presence of an articulation, voice and resonance disorder and experienced /s/ /r/ /t/ and /d/ as the most difficult consonants. To what extent the incorporation of specific motor oriented oral speech techniques regarding the realisation of specific consonants, attention to vocal and ear care, and the recommendation of secondary velopharyngeal surgery, with the incorporation of primary correction of the cleft nose deformity simultaneously with primary lip closure, will aid these patients are future research subjects. Copyright © 2011 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

[Evidence of facial palsy and facial malformations in pottery from Peruvian Moche and Lambayeque pre-Columbian cultures].

PubMed

Carod-Artal, F J; Vázquez Cabrera, C B

2006-01-01

Moche (100-700 AD) and Lambayeque-Sicán (750-1100 AD) are pre-Columbian cultures from Regional States Period, developed in Northern Peru. Information about daily life, religion and medicine has been obtained through the study of Moche ceramics found in lords and priests tombs, pyramids and temples. To analyze archeological evidences of Moche Medicine and neurological diseases through ceramics. Representations of diseases in Moche and Lambayeque iconography and Moche pottery collections exposed in Casinelli museum from Trujillo, and Brüning National Archeological museum from Lambayeque, Peru, were studied. The most representative cases were analyzed and photographed, previous authorization from authorities and curators of the museums. The following pathologies were observed in ceramic collections: peripheral facial palsy, facial malformations such as cleft lip, hemifacial spasm, legs and arm amputations, scoliosis and Siamese patients. Male and females Moche doctors were also observed in the ceramics in ritual ceremonies treating patients. The main pathologies observed in Moche and Lambayeque pottery are facial palsy and cleft lip. These are one of the earliest registries of these pathologies in pre-Columbian cultures in South-America.

A Type-II First Branchial Cleft Anomaly Presenting as a Post-Auricular Salivary Fistula: A Rare Presentation.

PubMed

Jain, S; Deshmukh, Pt; Gupta, M; Shukla, S

2014-01-01

First branchial cleft anomalies are rare with the average age of presentation as 19 years. There is an average delay of 3.5 years between initial presentation and adequate treatment due to diagnostic dilemma. A very rare variant of first branchial cleft anomaly presenting as a post-auricular salivary fistula is reported. A 12-year-old girl presented with a history of intermittent watery discharge, more so at the time of meals from a right post-auricular opening for last 3 years. Computed tomography sialography revealed a fistulous tract connecting the sub segmental duct of the parotid gland extending along the pre-tragus region in subcutaneous plane up to mastoid tip after passing inferior to external auditory canal. Superficial parotidectomy with identification of facial nerve branches was carried out for excision of the tract. Histopathology revealed sinus tract comprising of ectodermal components and acini of the parotid gland. We classified our case into work's type-2 based on anatomical location at an angle of mandible, its relationship to parotid gland and facial nerve and previous history of ear discharge. To the best of our knowledge, this is the first case of its type to be reported.

A Type-II First Branchial Cleft Anomaly Presenting as a Post-Auricular Salivary Fistula: A Rare Presentation

PubMed Central

Jain, S; Deshmukh, PT; Gupta, M; Shukla, S

2014-01-01

First branchial cleft anomalies are rare with the average age of presentation as 19 years. There is an average delay of 3.5 years between initial presentation and adequate treatment due to diagnostic dilemma. A very rare variant of first branchial cleft anomaly presenting as a post-auricular salivary fistula is reported. A 12-year-old girl presented with a history of intermittent watery discharge, more so at the time of meals from a right post-auricular opening for last 3 years. Computed tomography sialography revealed a fistulous tract connecting the sub segmental duct of the parotid gland extending along the pre-tragus region in subcutaneous plane up to mastoid tip after passing inferior to external auditory canal. Superficial parotidectomy with identification of facial nerve branches was carried out for excision of the tract. Histopathology revealed sinus tract comprising of ectodermal components and acini of the parotid gland. We classified our case into work's type-2 based on anatomical location at an angle of mandible, its relationship to parotid gland and facial nerve and previous history of ear discharge. To the best of our knowledge, this is the first case of its type to be reported. PMID:24669347

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

PubMed

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Acceptance of Disability by Teenagers with Oral-Facial Clefts

ERIC Educational Resources Information Center

Starr, Philip; Heiserman, Kitty

1977-01-01

This study ascertains whether the findings of Linkowski and Dunn (1974) were applicable to a sample of teenagers with oral-facial clefts. The following brief description of the nature of this birth defect and the treatment involved will help to explain why these patients are potential candidates for rehabilitation. (Author)

Relation between a first branchial cleft anomaly and the facial nerve.

PubMed

Guo, Yu-Xing; Guo, Chuan-Bin

2012-04-01

Relations between first branchial cleft anomalies and the facial nerve vary. We reviewed 41 patients' medical records and pathological sections to clarify the relation, and found that those on the right side in young patients, which were Work type II and situated low down, were likely to be deep to the facial nerve. Copyright © 2011 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

First branchial cleft anomalies: otologic manifestations and treatment outcomes.

PubMed

Shinn, Justin R; Purcell, Patricia L; Horn, David L; Sie, Kathleen C Y; Manning, Scott C

2015-03-01

This study describes the presentation of first branchial cleft anomalies and compares outcomes of first branchial cleft with other branchial cleft anomalies with attention to otologic findings. Case series with chart review. Pediatric tertiary care facility. Surgical databases were queried to identify children with branchial cleft anomalies. Descriptive analysis defined sample characteristics. Risk estimates were calculated using Fisher's exact test. Queries identified 126 subjects: 27 (21.4%) had first branchial cleft anomalies, 80 (63.4%) had second, and 19 (15.1%) had third or fourth. Children with first anomalies often presented with otologic complications, including otorrhea (22.2%), otitis media (25.9%), and cholesteatoma (14.8%). Of 80 children with second branchial cleft anomalies, only 3 (3.8%) had otitis. Compared with children with second anomalies, children with first anomalies had a greater risk of requiring primary incision and drainage: 16 (59.3%) vs 2 (2.5%) (relative risk [RR], 3.5; 95% confidence interval [CI], 2.4-5; P<.0001). They were more likely to have persistent disease after primary excision: 7 (25.9%) vs 2 (2.5%) (RR, 3; 95% CI, 1.9-5; P=.0025). They were more likely to undergo additional surgery: 8 (29.6%) vs 3 (11.1%) (RR, 2.9; 95% CI, 1.8-4.7; P=.0025). Of 7 persistent first anomalies, 6 (85.7%) were medial to the facial nerve, and 4 (57.1%) required ear-specific surgery for management. Children with first branchial cleft anomalies often present with otologic complaints. They are at increased risk of persistent disease, particularly if anomalies lie medial to the facial nerve. They may require ear-specific surgery such as tympanoplasty. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2014.

Team approach concept in management of oro-facial clefts: a survey of Nigerian practitioners.

PubMed

Akinmoladun, Victor I; Obimakinde, Obitade S

2009-05-10

Cleft palate craniofacial teams have evolved across the globe in the last 20 years in compliance with the interdisciplinary concept of management of oro-facial clefts. An interdisciplinary care allows a coordinated treatment protocol for the patient. The objective of this study was to evaluate oro-facial cleft care in Nigeria with particular emphasis on the compliance of the practitioners to the team approach concept. A snapshot survey was conducted among specialists that attended the Pan African Congress on Cleft Lip and Palate, at the International Institute of Tropical Agriculture, Nigeria in February 2007. Sixty three respondents successfully completed and returned the questionnaire for analysis. Mean age of respondents was 43.5 years and the range was 38-62 years.Male to female ratio was 2.7:1. Oral and Maxillofacial Surgeons and Plastic Surgeons constituted the majority of respondents (38.1% and 22.2%) respectively. Only 47.6% (n = 30) of the specialists belonged to cleft teams. Majority of Oral and Maxillofacial Surgeons and Plastic Surgeons belonged to cleft teams (70% and 63.3% respectively) while speech pathologists and orthodontists were less represented (20% and 36.7% respectively) in teams. Findings from this study suggests that interdisciplinary care for the cleft patient does not appear to have been fully embraced in Nigeria. This may be a result of several reasons ranging from non availability of the requisite specialists, the relatively young age of cleft care practice in this part of the world to the poor state of infrastructure.

Facial tissue depths in children with cleft lip and palate.

PubMed

Starbuck, John M; Ghoneima, Ahmed; Kula, Katherine

2015-03-01

Cleft lip and palate (CLP) is a craniofacial malformation affecting more than seven million people worldwide that results in defects of the hard palate, teeth, maxilla, nasal spine and floor, and maxillodental asymmetry. CLP facial soft-tissue depth (FSTD) values have never been published. The purpose of this research is to report CLP FSTD values and compare them to previously published FSTD values for normal children. Thirty-eight FSTDs were measured on cone beam computed tomography images of CLP children (n = 86; 7-17 years). MANOVA and ANOVA tests determined whether cleft type, age, sex, and bone graft surgical status affect tissue depths. Both cleft type (unilateral/bilateral) and age influence FSTDs. CLP FSTDs exhibit patterns of variation that differ from normal children, particularly around the oronasal regions of the face. These differences should be taken into account when facial reconstructions of children with CLP are created. © 2014 American Academy of Forensic Sciences.

Computer-Assisted Orthognathic Surgery for Patients with Cleft Lip/Palate: From Traditional Planning to Three-Dimensional Surgical Simulation

PubMed Central

Lonic, Daniel; Pai, Betty Chien-Jung; Yamaguchi, Kazuaki; Chortrakarnkij, Peerasak; Lin, Hsiu-Hsia; Lo, Lun-Jou

2016-01-01

Background Although conventional two-dimensional (2D) methods for orthognathic surgery planning are still popular, the use of three-dimensional (3D) simulation is steadily increasing. In facial asymmetry cases such as in cleft lip/palate patients, the additional information can dramatically improve planning accuracy and outcome. The purpose of this study is to investigate which parameters are changed most frequently in transferring a traditional 2D plan to 3D simulation, and what planning parameters can be better adjusted by this method. Patients and Methods This prospective study enrolled 30 consecutive patients with cleft lip and/or cleft palate (mean age 18.6±2.9 years, range 15 to 32 years). All patients received two-jaw single-splint orthognathic surgery. 2D orthodontic surgery plans were transferred into a 3D setting. Severe bony collisions in the ramus area after 2D plan transfer were noted. The position of the maxillo-mandibular complex was evaluated and eventually adjusted. Position changes of roll, midline, pitch, yaw, genioplasty and their frequency within the patient group were recorded as an alternation of the initial 2D plan. Patients were divided in groups of no change from the original 2D plan and changes in one, two, three and four of the aforementioned parameters as well as subgroups of unilateral, bilateral cleft lip/palate and isolated cleft palate cases. Postoperative OQLQ scores were obtained for 20 patients who finished orthodontic treatment. Results 83.3% of 2D plans were modified, mostly concerning yaw (63.3%) and midline (36.7%) adjustments. Yaw adjustments had the highest mean values in total and in all subgroups. Severe bony collisions as a result of 2D planning were seen in 46.7% of patients. Possible asymmetry was regularly foreseen and corrected in the 3D simulation. Conclusion Based on our findings, 3D simulation renders important information for accurate planning in complex cleft lip/palate cases involving facial asymmetry that is regularly missed in conventional 2D planning. PMID:27002726

Computer-Assisted Orthognathic Surgery for Patients with Cleft Lip/Palate: From Traditional Planning to Three-Dimensional Surgical Simulation.

PubMed

Lonic, Daniel; Pai, Betty Chien-Jung; Yamaguchi, Kazuaki; Chortrakarnkij, Peerasak; Lin, Hsiu-Hsia; Lo, Lun-Jou

2016-01-01

Although conventional two-dimensional (2D) methods for orthognathic surgery planning are still popular, the use of three-dimensional (3D) simulation is steadily increasing. In facial asymmetry cases such as in cleft lip/palate patients, the additional information can dramatically improve planning accuracy and outcome. The purpose of this study is to investigate which parameters are changed most frequently in transferring a traditional 2D plan to 3D simulation, and what planning parameters can be better adjusted by this method. This prospective study enrolled 30 consecutive patients with cleft lip and/or cleft palate (mean age 18.6±2.9 years, range 15 to 32 years). All patients received two-jaw single-splint orthognathic surgery. 2D orthodontic surgery plans were transferred into a 3D setting. Severe bony collisions in the ramus area after 2D plan transfer were noted. The position of the maxillo-mandibular complex was evaluated and eventually adjusted. Position changes of roll, midline, pitch, yaw, genioplasty and their frequency within the patient group were recorded as an alternation of the initial 2D plan. Patients were divided in groups of no change from the original 2D plan and changes in one, two, three and four of the aforementioned parameters as well as subgroups of unilateral, bilateral cleft lip/palate and isolated cleft palate cases. Postoperative OQLQ scores were obtained for 20 patients who finished orthodontic treatment. 83.3% of 2D plans were modified, mostly concerning yaw (63.3%) and midline (36.7%) adjustments. Yaw adjustments had the highest mean values in total and in all subgroups. Severe bony collisions as a result of 2D planning were seen in 46.7% of patients. Possible asymmetry was regularly foreseen and corrected in the 3D simulation. Based on our findings, 3D simulation renders important information for accurate planning in complex cleft lip/palate cases involving facial asymmetry that is regularly missed in conventional 2D planning.

The Facial Growth Pattern and the Amount of Palatal Bone Deficiency Relative to Cleft Size Should Be Considered in Treatment Planning

PubMed Central

2016-01-01

Background: The aim of this study is to determine the best surgical/orthodontic treatment plan for the complete bilateral and unilateral cleft lip and palate patient to achieve all treatment goals of facial aesthetics, speech, dental function, and psychosocial development. Methods: Review of 40 years of serial complete bilateral cleft lip and palate and complete unilateral cleft lip and palate dental casts and photographs from birth to adolescence, with serial cephs starting at 4 years. This was part of a multicenter international 3-dimensional palatal growth study of serial dental casts of patients who developed good speech, occlusion, and facial growth. Results: Nasoalveolar molding and gingivoperiosteoplasty were introduced without proven longitudinal benefits. The procedure bodily retruded the premaxilla, which “telescoped” backward causing synostosis at the premaxillary vomerine suture. The resulting midfacial recessiveness with an anterior dental crossbite can only be corrected by midfacial protraction or a Le Fort I surgery. Conclusions: Staged orthodontic/surgical treatment limiting premaxillary retraction forces to lip adhesion or forces that cause only premaxillary ventroflexion produce the best results. The palatal cleft should be closed between 18 and 24 months when the ratio of the cleft to the palatal size medial to the alveolar ridge is at least 10%. The protruding premaxilla should only be ventroflexed but never bodily retruded. The facial growth pattern and degree of palatal bone deficiency are the main items to be considered in treatment planning. PMID:27579230

Simple solution for difficult face mask ventilation in children with orofacial clefts.

PubMed

Veerabathula, Prardhana; Patil, Manajeet; Upputuri, Omkar; Durga, Padmaja

2014-10-01

Significant air leak from the facial cleft predisposes to difficult mask ventilation. The reported techniques of use of sterile gauze, larger face mask and laryngeal mask airway after intravenous induction have limited application in uncooperative children. We describe the use of dental impression material molded to the facial contour to cover the facial defect and aid ventilation with an appropriate size face mask in a child with a bilateral Tessier 3 anomaly. © 2014 John Wiley & Sons Ltd.

The "Double" Tessier 7 Cleft: An Unusual Presentation of a Transverse Facial Cleft.

PubMed

Raveendran, Janani A; Chao, Jerry W; Rogers, Gary F; Boyajian, Michael J

2018-07-01

Congenital macrostomia, or Tessier number 7 cleft, is a rare craniofacial anomaly. We present a unique patient with bilateral macrostomia that consisted of a "double" transverse cleft on the left side and a single transverse cleft on the right side. A staged reconstructive approach was used to repair the "double" left-sided clefts. This staged technique produced a satisfactory aesthetic and functional outcome.

Long-term stability of intra-oral maxillary distraction in unilateral cleft lip and palate: a case report.

PubMed

Nevzatoğlu, Sirin; Küçükkeleş, Nazan; Güzel, Zeki

2013-11-01

This case report presents short and long-term treatment results of a unilateral cleft lip and palate patient treated with a modified intra-oral tooth-bone borne distraction appliance. The chief complaints of a 16 year-old, unilateral cleft lip and palate patient were poor facial aesthetics, crowding and a fistula. Severe maxillary retrognathism was treated via distraction osteogenesis of the maxilla and performed using an intra-oral tooth-bone borne appliance. Treatment continued to completion with a multibracket system. At an eight-year review following the distraction procedure, the short and long-term results were determined cephalometrically. Following the distraction, A-point advanced 7 mm, 2 mm of which relapsed during fixed appliance treatment. At the end of the active treatment, the patient's skeletal and dental Class III relationship improved to Class I, which was preserved at the long-term review. The profile was markedly improved by the distraction osteogenesis. In cases of severe maxillary retrognathism as a result of a cleft lip and palate, maxillary distraction osteogenesis provides a viable alternative to orthognathic surgery.

Team approach concept in management of oro-facial clefts: a survey of Nigerian practitioners

PubMed Central

Akinmoladun, Victor I; Obimakinde, Obitade S

2009-01-01

Background Cleft palate craniofacial teams have evolved across the globe in the last 20 years in compliance with the interdisciplinary concept of management of oro-facial clefts. An interdisciplinary care allows a coordinated treatment protocol for the patient. The objective of this study was to evaluate oro-facial cleft care in Nigeria with particular emphasis on the compliance of the practitioners to the team approach concept. Methods A snapshot survey was conducted among specialists that attended the Pan African Congress on Cleft Lip and Palate, at the International Institute of Tropical Agriculture, Nigeria in February 2007. Result Sixty three respondents successfully completed and returned the questionnaire for analysis. Mean age of respondents was 43.5 years and the range was 38–62 years. Male to female ratio was 2.7:1. Oral and Maxillofacial Surgeons and Plastic Surgeons constituted the majority of respondents (38.1% and 22.2%) respectively. Only 47.6% (n = 30) of the specialists belonged to cleft teams. Majority of Oral and Maxillofacial Surgeons and Plastic Surgeons belonged to cleft teams (70% and 63.3% respectively) while speech pathologists and orthodontists were less represented (20% and 36.7% respectively) in teams. Conclusion Findings from this study suggests that interdisciplinary care for the cleft patient does not appear to have been fully embraced in Nigeria. This may be a result of several reasons ranging from non availability of the requisite specialists, the relatively young age of cleft care practice in this part of the world to the poor state of infrastructure. PMID:19426559

The relationship between the fistula tract and the facial nerve in type II first branchial cleft anomalies.

PubMed

Ertas, Burak; Gunaydin, Rıza Onder; Unal, Omer Faruk

2015-04-01

To share our experience involving seven patients with type II first branchial cleft anomalies (hereafter, type II anomalies), to determine whether the location of the external fistula openings of the anomalies are associated with the location of the facial nerve tract, and elucidate the relationship between the location of the fistula opening and the facial nerve. The medical records of seven patients who underwent surgery from 2005 to 2013 for type II anomalies were retrospectively examined. The relationship between the fistula opening and the facial nerve was evaluated in each patient with respect to whether the fistula opening was superior or inferior to the mandibular angle. All patients underwent partial parotidectomy, facial nerve exposure, and total excision of the mass together with connection of a small cuff of the external auditory canal skin to the fistula tract. The fistula tracts were located medially to the facial nerve in two patients, and both fistulae had openings inferior to the mandibular angle. The fistula tracts were located laterally to the facial nerve in the remaining five patients: one patient had no external opening, one had an opening inferior to the mandibular angle, and the remaining three had openings superior to the mandibular angle. Because type II anomalies are rare, their diagnosis is difficult. Surgery of such lesions is challenging and associated with a high risk due to their proximity to the facial nerve. We believe that the location of the fistula opening may help to identify the relationship between the anomalous lesion and facial nerve. Studies involving larger series of cases are needed to confirm our hypothesis; however, because of the rarity of this specific anomaly, it will not be easy to compile a large number of cases. We believe that our study will encourage further investigation on this subject. Copyright © 2014. Published by Elsevier Ireland Ltd.

Ocular dermoid in Pai Syndrome: A review.

PubMed

Tormey, Peter; Bilic Cace, Iva; Boyle, Michael A

2017-04-01

Pai Syndrome is a rare congenital malformation syndrome of unknown cause with hypertelorism, midline cleft lip, nasal and facial polyps, ocular anomalies and the presence of distinctive lipomas adjacent to the corpus callosum. Herein, we present an infant girl with Pai Syndrome diagnosed in the first week of life with typical facial findings and associated pericallosal lipoma identified on cranial ultrasound and brain MRI. These typical features identified included median cleft of the upper lip (in her case as a forme fruste) with a cleft alveolus and a mid-anterior alveolar process congenital polyp. In addition to these findings there was mild hypertelorism and an ocular abnormality on the right eye. An ophthalmology assessment on day 5 identified the ocular lesion as a limbal dermoid. Several ocular anomalies have been reported in association with Pai Syndrome, however, dermoids have not been frequently described in this Syndrome and not before in a limbal location. Increasing identification of previously unreported ocular abnormalities in Pai Syndrome may improve diagnosis and may prove useful in future work attempting to elucidate the aetiology of this rare syndrome. Copyright © 2017. Published by Elsevier Masson SAS.

Facial clefts and facial dysplasia: revisiting the classification.

PubMed

Mazzola, Riccardo F; Mazzola, Isabella C

2014-01-01

Most craniofacial malformations are identified by their appearance. The majority of the classification systems are mainly clinical or anatomical, not related to the different levels of development of the malformation, and underlying pathology is usually not taken into consideration. In 1976, Tessier first emphasized the relationship between soft tissues and the underlying bone stating that "a fissure of the soft tissue corresponds, as a general rule, with a cleft of the bony structure". He introduced a cleft numbering system around the orbit from 0 to 14 depending on its relationship to the zero line (ie, the vertical midline cleft of the face). The classification, easy to understand, became widely accepted because the recording of the malformations was simple and communication between observers facilitated. It represented a great breakthrough in identifying craniofacial malformations, named clefts by him. In the present paper, the embryological-based classification of craniofacial malformations, proposed in 1983 and in 1990 by us, has been revisited. Its aim was to clarify some unanswered questions regarding apparently atypical or bizarre anomalies and to establish as much as possible the moment when this event occurred. In our opinion, this classification system may well integrate the one proposed by Tessier and tries at the same time to find a correlation between clinical observation and morphogenesis.Terminology is important. The overused term cleft should be reserved to true clefts only, developed from disturbances in the union of the embryonic facial processes, between the lateronasal and maxillary process (or oro-naso-ocular cleft); between the medionasal and maxillary process (or cleft of the lip); between the maxillary processes (or cleft of the palate); and between the maxillary and mandibular process (or macrostomia).For the other types of defects, derived from alteration of bone production centers, the word dysplasia should be used instead. Facial dysplasias have been ranged in a helix form and named after the site of the developmental arrest. Thus, an internasal, nasal, nasomaxillary, maxillary and malar dysplasia, depending on the involved area, have been identified.The classification may provide a useful guide in better understanding the morphogenesis of rare craniofacial malformations.

Parental satisfaction in Ugandan children with cleft lip and palate following synchronous lip and palatal repair.

PubMed

Luyten, Anke; D'haeseleer, Evelien; Budolfsen, Dorte; Hodges, Andrew; Galiwango, George; Vermeersch, Hubert; Van Lierde, Kristiane

2013-01-01

The purpose of the present case control study was to assess parental satisfaction with speech and facial appearance in Ugandan children with complete unilateral or bilateral cleft lip and palate (CLP), who underwent a synchronous lip and palatal closure. The results are compared with an age- and gender-matched control group. The experimental group consisted of the parents or guardians of 44 Ugandan patients (21 males, 23 females) with complete unilateral or bilateral CLP (mean age: 3;1 years). The control group included the foster mothers of 44 orphan children matched by age and gender (mean age: 3;7 years). A survey based on the Cleft Evaluation Profile was used to assess the perceived satisfaction for individual features related to cleft care. Overall high levels of satisfaction were observed in the experimental group for all features (range: 56-100%). No significant differences could be established regarding age, gender, age of lip and palatal closure, cleft type or maternal vs. paternal judgments. In participants who were dissatisfied with the appearance of the lip, the time period between the cleft closure and the survey was significantly larger compared with satisfied participants. Furthermore, significantly lower levels of satisfaction were observed in the cleft group for speech and the appearance of the teeth and the nose compared with the control group. Satisfaction with speech and facial appearance in Ugandan children with cleft lip and/or palate is important since normal esthetics and speech predominantly determine the children's social acceptance in the Ugandan society. As a result of reading this manuscript, the reader will be able to explain the attitudes of parents toward the surgical repair of their children's cleft lip and palate. As a result of reading this manuscript, the reader will be able to identify differences in parental attitudes toward synchronous lip and palate repair. Copyright © 2013 Elsevier Inc. All rights reserved.

Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.

PubMed

Yoshida, Kazue; Hayashi, Ryota; Fujita, Hideki; Kubota, Masaya; Kondo, Mai; Shimomura, Yutaka; Niizeki, Hironori

2015-07-01

Cleft lip/palate-ectodermal dysplasia syndrome is a rare, autosomal recessive disorder caused by homozygous loss-of-function mutations of the poliovirus receptor-like 1 (PVRL1) gene encoding nectin-1. Nectin-1 is a cell-cell adhesion molecule that is important for the initial step in the formation of adherens junctions and tight junctions; it is expressed in keratinocytes, neurons, and the developing face and palate. Clinical manifestations comprise a unique facial appearance with cleft lip/palate, ectodermal dysplasia, cutaneous syndactyly of the fingers and/or toes, and in some cases, mental retardation. We present the first report, to our knowledge, of an Asian individual with cleft lip/palate-ectodermal dysplasia syndrome with a novel PVRL1 mutation. A 7-year-old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the unique facial appearance with cleft lip/palate, cutaneous syndactyly of the fingers and mild mental retardation. Scanning electron microscopic examination of the hair demonstrated pili torti and pili trianguli et canaliculi. Mutation analysis of exon 2 of PVRL1 revealed a novel homozygous nonsense mutation, c.400C>T (p.Arg134*). His parents were heterozygous for the mutant alleles. All four PVRL1 mutations identified in cleft lip/palate-ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin-1, which is necessary to initiate the cell-cell adhesion process. © 2015 Japanese Dermatological Association.

Morphological evaluation of clefts of the lip, palate, or both in dogs.

PubMed

Peralta, Santiago; Fiani, Nadine; Kan-Rohrer, Kimi H; Verstraete, Frank J M

2017-08-01

OBJECTIVE To systematically characterize the morphology of cleft lip, cleft palate, and cleft lip and palate in dogs. ANIMALS 32 client-owned dogs with clefts of the lip (n = 5), palate (23), or both (4) that had undergone a CT or cone-beam CT scan of the head prior to any surgical procedures involving the oral cavity or face. PROCEDURES Dog signalment and skull type were recorded. The anatomic form of each defect was characterized by use of a widely used human oral-cleft classification system on the basis of CT findings and clinical images. Other defect morphological features, including shape, relative size, facial symmetry, and vomer involvement, were also recorded. RESULTS 9 anatomic forms of cleft were identified. Two anatomic forms were identified in the 23 dogs with cleft palate, in which differences in defect shape and size as well as vomer abnormalities were also evident. Seven anatomic forms were observed in 9 dogs with cleft lip or cleft lip and palate, and most of these dogs had incisive bone abnormalities and facial asymmetry. CONCLUSIONS AND CLINICAL RELEVANCE The morphological features of congenitally acquired cleft lip, cleft palate, and cleft lip and palate were complex and varied among dogs. The features identified here may be useful for surgical planning, developing of clinical coding schemes, or informing genetic, embryological, or clinical research into birth defects in dogs and other species.

Body Esteem in a Western Australian Cleft Lip and/or Palate Cohort Across 3 Age Groups.

PubMed

Nicholls, Wendy; Harper, Craig; Selvey, Linda A; Robinson, Suzanne; Hartig, Gerald; Persson, Martin

2018-04-01

To determine if patients with cleft lip and/or palate (CL/P) from a Western Australian (WA) cohort were more dissatisfied with their body esteem than a normative non-cleft cohort, and identify demographic variables that may have significant associations with body esteem. Questionnaire study using the Body-Esteem Scale (BES) and Cleft Research Questionnaire (CRQ). Self-selected participants from a Western Australian CL/P population across 3 age groups (n=359). The BES is comprised of 3 factors: BE-Appearance, BE-Weight and BE-Attribution. Study mean BES factor scores were compared to normative non-cleft scores. Regression analysis was used to determine significant associations within each age group between BES factor scores and CRQ variables of: gender, self-reported body weight category, cleft type and importance of facial appearance rating. Study mean BE-Attribution scores were significantly lower than the normative scores and significantly lower than the mean BE-Appearance and BE-Weight factor scores within the same age groups of this study. Having a cleft type of lip and palate, being overweight, and placing a high importance on facial appearance had significant negative associations with BES scores. Maintaining a normal body weight and placing a lower level of importance on facial appearance had significant positive associations. Gender had no significant associations. In this study, the attribution aspect of body esteem had a greater negative impact on patients than their appearance and body weight. This has important implications for clinical treatment and support of patients.

Centre-based statistics of cleft lip with/without alveolus and palate as well as cleft palate only patients in Aden, Yemen.

PubMed

Esmail, Ahlam Hibatulla Ali; Abdo, Muhgat Ahmed Ali; Krentz, Helga; Lenz, Jan-Hendrik; Gundlach, Karsten K H

2014-06-01

The purpose of the study was to report the types and patterns of cleft lip with/without cleft alveolus and palate as well as cleft palate only as seen in Aden, Yemen. Retrospective, centre-based study conducted at the Cleft Lip and Palate Centre, Aden University, Yemen. Statistical evaluation of the data from all cleft patients who were registered at or referred to this centre during the years 2005-2011. A total of 1110 cleft patients were seen during the period studied (2005-2011). Amongst these there were 183 (16.48%) with a cleft lip and 144 (12.98) with a cleft of lip and alveolus, 228 (20.54%) had a cleft palate, and 555 (50%) had a combination of cleft lip, alveolus, and palate. The clefts were found more often in males than in females (56.5% boys versus 43.5% girls). This difference was statistically significant (p ≤ 0.001). Statistically significant sex differences were also noted when evaluating the various cleft types. Isolated cleft palates were found most often in females. Among the cleft palate cases there were 102 (9.2%) with a cleft soft palate only. The ages of the patients were between one day and 40 years. Two hundred and one children (18%) had a positive family history of clefts. Among the risk factors considered in this study, consanguineous marriages among cousins were found most frequently (in 48% of the cases). In contrast to this, only 10% of the mothers had reported to have been taking medication directly prior to or during the first trimester of their pregnancy. On average the mothers were neither very young nor very old. The prevalence rate of orofacial cleft types among this Yemeni sample was similar to prevalence rates previously reported in white Caucasians. The present study did neither find many cases with medication before, nor during, pregnancy; there were few young or very old mothers; and the incidence of positive family histories was similar to those found in other studies on clefts. However, consanguineous marriages were encountered quite often. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Influence of different palate repair protocols on facial growth in unilateral complete cleft lip and palate.

PubMed

Xu, Xue; Kwon, Hyuk-Jae; Shi, Bing; Zheng, Qian; Yin, Heng; Li, Chenghao

2015-01-01

To address the question of whether one- or two-stage palatal treatment protocol has fewer detrimental effects on craniofacial growth in patients aged 5 years with unilateral complete cleft lip and palate. Forty patients with non-syndromic unilateral complete cleft lip and palate (UCCLPs) who had received primary cleft lip repair at age 6-12 months and cleft palate repair at age 18-30 months were selected in this study. Eighteen UCCLP patients who received two-stage palate repair were selected as group 1, and 22 UCCLP patients who received one-stage palate repair were selected as group 2. The control group consisted of 20 patients with unilateral incomplete cleft lip (UICL patients) whose age and gender matched with UCCLP patients. A one-sample Kolmogorov-Smirnov test was used to analyze the nature of data distribution. Bonferroni test and Kruskal-Wallis H tests were used for multiple comparisons. Both case groups showed reduced maxillary sagittal length (ANS-PMP, A-PM, p < 0.05) and retrusion of the maxilla (S-Ptm, p < 0.05), A point and ANS point (Ba-N-A, Ba-N-ANS, p < 0.05). Patients treated with two-stage palate repair had a reduced posterior maxillary vertical height (R-PMP, p < 0.05). Our results indicated that maxillary sagittal length and position could be perturbed by both one- and two-stage palate repair. Vomer flap repair inhibited maxilla vertical growth. Delayed hard palate repair showed less detrimental effects on maxillary growth compared to early hard palate repair in UCCLP patients aged 5 years. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

A Retrospective Study of Cleft lip and palate Patients' Satisfaction after Maxillary Distraction or Traditional Advancement of the Maxilla.

PubMed

Andersen, Kristian; Nørholt, Sven Erik; Küseler, Annelise; Jensen, John; Pedersen, Thomas Klit

2012-01-01

To compare cleft lip and palate patients' satisfaction with aesthetics and functional parameters after conventional advancement of the maxilla or by the use of distraction osteogenesis. Case series observational study. Group of distraction osteogenesis (DO) consisted of 15 patients treated with distraction osteogenesis while group conventional (CONV) included 10 patients treated with traditional advancement of the maxilla. Patients were asked to fill out a questionnaire about their subjective evaluation of satisfaction with facial aesthetics and functional parameters on a continuous visual analog-scale (VAS) when the treatment was finished. The total response rate was 76%. Preoperatively the two groups did not differ significantly according to group characteristics. At follow-up both groups were satisfied with aesthetics and functional parameters. The DO group was less satisfied with the duration of the treatment than the CONV group. There were no statistically significant differences among the groups regarding functional parameters or facial aesthetics. Cleft lip and palate patients experienced a high level of satisfaction with functional parameters and aesthetics as a result of surgical maxillary advancement. The patients treated with distraction osteogenesis were less satisfied with the duration of the treatment. Further studies are needed.

Updating concepts of first branchial cleft defects: a literature review.

PubMed

D'Souza, Alwyn R; Uppal, Harpreet S; De, Ranit; Zeitoun, Hisham

2002-02-01

The Sinuses and fistulae of first branchial cleft origin have been widely reported in the literature and their variable relationship to the facial nerve has been described. Most published series however are too small to allow a detailed analysis of the relative frequency of various relationships of these lesions to the facial nerve and therefore enabling the determination of risks to the nerve at surgery. The aim of this study was to perform a comprehensive review of literature in an attempt to identify those patients with a deep tract (lying deep to the main trunk of the facial nerve and/or its branches, and/or between the branches) and to recognize the incidence of the complications of surgical management. Available English, French and German literature between 1923 and 2000 was reviewed and variables including patient's age, sex, side and type of anomaly, opening of the lesion and the relationship of the tract are analyzed in relation to the position of the facial nerve. The complications due to their surgical excision are also reported. Of the total number of cases with fistulae and sinuses identified (n=158) fistulous tracts were more likely to lie deep to the facial nerve compared with sinus tracts (P=0.01). Lesions with openings in the external auditory meatus are associated with a tract superficial to the facial nerve (P=0.05). Patients presenting at a younger age were more likely to have a deep tract with consequent increased risk of facial nerve damage. Identification of the facial nerve trunk at an early stage of dissection is critical. Extra care and caution should be exercised in younger patients (<6 months), those with fistulous tracts and in patients with a tract opening elsewhere other than the external auditory canal.

[Partial facial duplication (a rare diprosopus): Case report and review of the literature].

PubMed

Es-Seddiki, A; Rkain, M; Ayyad, A; Nkhili, H; Amrani, R; Benajiba, N

2015-12-01

Diprosopus, or partial facial duplication, is a very rare congenital abnormality. It is a rare form of conjoined twins. Partial facial duplication may be symmetric or not and may involve the nose, the maxilla, the mandible, the palate, the tongue and the mouth. A male newborn springing from inbred parents was admitted at his first day of life for facial deformity. He presented with hypertelorism, 2 eyes, a tendency to nose duplication (flatted large nose, 2 columellae, 2 lateral nostrils separated in the midline by a third deformed hole), two mouths and a duplicated maxilla. Laboratory tests were normal. The cranio-facial CT confirmed the maxillary duplication. This type of cranio-facial duplication is a rare entity with about 35 reported cases in the literature. Our patient was similar to a rare case of living diprosopus reported by Stiehm in 1972. Diprosopus is often associated with abnormalities of the gastrointestinal tract, the central nervous system, the cardiovascular and respiratory systems and with a high incidence of cleft lip and palate. Surgical treatment consists in the resection of the duplicated components. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Surgical Approaches to First Branchial Cleft Anomaly Excision: A Case Series.

PubMed

Quintanilla-Dieck, Lourdes; Virgin, Frank; Wootten, Chistopher; Goudy, Steven; Penn, Edward

2016-01-01

Objectives. First branchial cleft anomalies (BCAs) constitute a rare entity with variable clinical presentations and anatomic findings. Given the high rate of recurrence with incomplete excision, identification of the entire tract during surgical treatment is of paramount importance. The objectives of this paper were to present five anatomic variations of first BCAs and describe the presentation, evaluation, and surgical approach to each one. Methods. A retrospective case review and literature review were performed. We describe patient characteristics, presentation, evaluation, and surgical approach of five patients with first BCAs. Results. Age at definitive surgical treatment ranged from 8 months to 7 years. Various clinical presentations were encountered, some of which were atypical for first BCAs. All had preoperative imaging demonstrating the tract. Four surgical approaches required a superficial parotidectomy with identification of the facial nerve, one of which revealed an aberrant facial nerve. In one case the tract was found to travel into the angle of the mandible, terminating as a mandibular cyst. This required en bloc excision that included the lateral cortex of the mandible. Conclusions. First BCAs have variable presentations. Complete surgical excision can be challenging. Therefore, careful preoperative planning and the recognition of atypical variants during surgery are essential.

Surgical Approaches to First Branchial Cleft Anomaly Excision: A Case Series

PubMed Central

Quintanilla-Dieck, Lourdes; Virgin, Frank; Wootten, Chistopher; Goudy, Steven; Penn, Edward

2016-01-01

Objectives. First branchial cleft anomalies (BCAs) constitute a rare entity with variable clinical presentations and anatomic findings. Given the high rate of recurrence with incomplete excision, identification of the entire tract during surgical treatment is of paramount importance. The objectives of this paper were to present five anatomic variations of first BCAs and describe the presentation, evaluation, and surgical approach to each one. Methods. A retrospective case review and literature review were performed. We describe patient characteristics, presentation, evaluation, and surgical approach of five patients with first BCAs. Results. Age at definitive surgical treatment ranged from 8 months to 7 years. Various clinical presentations were encountered, some of which were atypical for first BCAs. All had preoperative imaging demonstrating the tract. Four surgical approaches required a superficial parotidectomy with identification of the facial nerve, one of which revealed an aberrant facial nerve. In one case the tract was found to travel into the angle of the mandible, terminating as a mandibular cyst. This required en bloc excision that included the lateral cortex of the mandible. Conclusions. First BCAs have variable presentations. Complete surgical excision can be challenging. Therefore, careful preoperative planning and the recognition of atypical variants during surgery are essential. PMID:27034873

Three-dimensional facial anthropometry of unilateral cleft lip infants with a structured light scanning system.

PubMed

Li, Guanghui; Wei, Jianhua; Wang, Xi; Wu, Guofeng; Ma, Dandan; Wang, Bo; Liu, Yanpu; Feng, Xinghua

2013-08-01

Cleft lip in the presence or absence of a cleft palate is a major public health problem. However, few studies have been published concerning the soft-tissue morphology of cleft lip infants. Currently, obtaining reliable three-dimensional (3D) surface models of infants remains a challenge. The aim of this study was to investigate a new way of capturing 3D images of cleft lip infants using a structured light scanning system. In addition, the accuracy and precision of the acquired facial 3D data were validated and compared with direct measurements. Ten unilateral cleft lip patients were enrolled in the study. Briefly, 3D facial images of the patients were acquired using a 3D scanner device before and after the surgery. Fourteen items were measured by direct anthropometry and 3D image software. The accuracy and precision of the 3D system were assessed by comparative analysis. The anthropometric data obtained using the 3D method were in agreement with the direct anthropometry measurements. All data calculated by the software were 'highly reliable' or 'reliable', as defined in the literature. The localisation of four landmarks was not consistent in repeated experiments of inter-observer reliability in preoperative images (P<0.05), while the intra-observer reliability in both pre- and postoperative images was good (P>0.05). The structured light scanning system is proven to be a non-invasive, accurate and precise method in cleft lip anthropometry. Copyright © 2013 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

A Challenge to Classical Facial Proportionality Studies: Conventional Profile and 3d Photography Versus Silhouettes

DTIC Science & Technology

2012-04-01

Edler R, Rahim MA, Wertheim D, Greenhill D. The use of facial anthropometrics in aesthetic assessment. Cleft Palate Craniofac J. 2010 Jan;47(1...48-57. Farkas LG, Posnick JC, Hreczko TM. Growth patterns of the Face: A morphopmetric Study. Cleft Palate -Craniofacial Journal. 1992 July; 29 (4...137 x     LIST OF FIGURES Figure 1 Upper lip , lower lip and chin fell along the

Anterior Segmental Distraction Osteogenesis in the Hypoplastic Cleft Maxilla

PubMed Central

Rao (Janardhan), Sruthi; Kotrashetti, S. M.; Lingaraj, J. B.; Pinto, P. X.; Keluskar, K. M.; Jain, Siddharth; Sone, Piyush; Rao, Santhosh

2013-01-01

Orthognathic surgery and distraction osteogenesis play a prime role in the correction of maxillary hypoplasia in patients with cleft lip and palate (CLP). Advancement of the anterior maxilla alone without interfering with the velopharyngeal sphincter may be advantageous in cleft patients, who more commonly have speech deficits and dental crowding. We present a case series of anterior maxillary segmental distraction for maxillary hypoplasia in 5 CLP patients with a one-year follow-up. A custom-made tooth-borne distraction device with a hyrax screw positioned anteroposteriorly was used. The evaluation comprised of hard and soft tissue analysis and speech assessment. A stable occlusion with positive overjet and correction of dental-crowding without extraction was achieved at one year post-distraction. Facial profile and lip support improved. There was no deterioration in speech. PMID:23984033

The Cleft Aesthetic Rating Scale for 18-Year-Old Unilateral Cleft Lip and Palate Patients: A Tool for Nasolabial Aesthetics Assessment.

PubMed

Mulder, F J; Mosmuller, D G M; de Vet, H C W; Mouës, C M; Breugem, C C; van der Molen, A B Mink; Don Griot, J P W

2018-01-01

Objective To develop a reliable and easy-to-use method to assess the nasolabial appearance of 18-year-old patients with unilateral cleft lip and palate (CLP). Design Retrospective analysis of nasolabial aesthetics using a 5-point ordinal scale and newly developed photographic reference scale: the Cleft Aesthetic Rating Scale (CARS). Three cleft surgeons and 20 medical students scored the nasolabial appearance on standardized frontal photographs. Setting VU University Medical Center, Amsterdam. Patients Inclusion criteria: 18-year-old patients, unilateral cleft lip and palate, available photograph of the frontal view. history of facial trauma, congenital syndromes affecting facial appearance. Eighty photographs were available for scoring. Main Outcome Measures The interobserver and intraobserver reliability of the CARS for 18-year-old patients when used by cleft surgeons and medical students. Results The interobserver reliability for the nose and lip together was 0.64 for the cleft surgeons and 0.61 for the medical students. There was an intraobserver reliability of 0.75 and 0.78 from the surgeons and students, respectively, on the nose and lip together. No significant difference was found between the cleft surgeons and medical students in the way they scored the nose ( P = 0.22) and lip ( P = 0.72). Conclusions The Cleft Aesthetic Rating Scale for 18-year-old patients has a substantial overall estimated reliability when the average score is taken from three or more cleft surgeons or medical students assessing the nasolabial aesthetics of CLP patients.

Cleft Type, Age, and Sex Differences in Teen-Agers' Ratings of Their Own Behavior, Self-Esteem, and Attitude toward Clefting.

ERIC Educational Resources Information Center

Starr, Philip

1980-01-01

The behavior, self-esteem, and attitude toward clefting of 94 adolescents being treated at a clinic for oral-facial anomalies and communicative disorders were examined. Younger teenagers were more aggressive, more active, and had more somatic complaints than did the older teenagers. (SBH)

[A case of diprosopus in the cat].

PubMed

Aharon, D C; Wouda, W; van Weelden, E

1986-06-15

A case of diprosopus in a spontaneously delivered live-born kitten is reported. All facial components were completely duplicated. Fusion of the skulls had occurred in the temporal region; a single ear was present at the site of fusion. Additional defects were a cleft lip in one face and cleft palates in both faces. The cerebral hemispheres and arterior portions of the brain stem were completely duplicated, whereas the cerebellum and caudal brain stem were partially duplicated. The pathogenesis and aetiology are discussed. It is believed that disprosopus originates during the (pre)gastrulation stage of embryonic development, either by coalescence of two embryonic fields following a double process of gastrulation or by bifurcation of the axial mesoderm during a single gastrulation.

Analysis of primary gingivoperiosteoplasty in alveolar cleft repair. Part I: Facial growth.

PubMed

Henkel, K O; Gundlach, K K

1997-10-01

The primary gingivoperiosteoplasty by Millard consists of presurgical active orthognathic treatment ('Latham device') of the alveolar margins at the age of 3 months and of surgical closure of the alveolar cleft with local gingivoperiosteal flaps at the age of 5 months. The aim of this investigation was to analyse the facial growth following this treatment. The following material was studied: lateral head X-rays and plaster casts from 146 patients with unilateral (UCLP) and bilateral (BCLP) clefts of lip and palate from birth to 16 years of age. Ninety-one of these patients formed the control group, who received neither gingivoperiosteoplasty nor pre-surgical active orthognathic treatment. The same surgeon and orthodontist treated all 146 patients. A three-dimensional growth disturbance after gingivoperiosteoplasty was observed: 42% patients with UCLP and 40% patients with BCLP had an 'open bite' following closure of the alveolar cleft (control group 5%/10%). The length of the upper jaw in patients who underwent gingivoperiosteoplasty was shorter than in the control group. The frequency of posterior cross bite was also higher in the gingivoperiosteoplasty group. These results demonstrate that treatment with a 'Latham device' disturbs facial growth. Therefore, this treatment should be abandoned.

Evaluation of Facial Appearance among Patients With Repaired Unilateral Cleft Lip and Palate: Comparison of Patient- and Clinician-Ratings of Satisfaction.

PubMed

Thittiwong, Rungkarn; Manosudprasit, Montian; Wangsrimongkol, Tasanee; Kongsomboon, Supaporn; Pitiphat, Waranuch; Chowchuen, Bowornsilp; Uttaravichien, Akasith; Pisek, Poonsak

2015-08-01

The objective of this study was to determine the levels of patient-satisfaction on facial and dental appearance compared with clinician ratings. Participants included 61 patients with repaired unilateral cleft lip and palate (UCLP), aged 14-25 years. Raters comprised three cleft team clinicians. A Likert scale was used to assess the levels of satisfaction of the patients themselves and the clinicians. The results revealed that the patients were moderately satisfied with their appearance. Nose was the least satisfactory feature, followed by lip appearance. When compared to the clinician ratings, the patients were less satisfied with their own nose and lip, but more satisfied with teeth. Concerning age, self-assessment did not differ between adolescents and young adults. Females were less likely to be satisfied compared to males, but the difference was not statistically significant. In conclusion, patients with repaired UCLP were moderately satisfied with their facial and dental appearance. Clinician- and patient-opinions were different in some aspects. This study highlights the importance of patient satisfaction as a meaningful treatment outcome assessment, which could lead to an improvement in cleft care to meet the patient expectations.

Facial attractiveness of patients with unilateral cleft lip and palate and of controls assessed by laypersons and professionals.

PubMed

Eichenberger, Martina; Staudt, Christine B; Pandis, Nikolaos; Gnoinski, Wanda; Eliades, Theodore

2014-06-01

The aim of the study was to identify differences in the aesthetic evaluation of profile and frontal photographs of (1) patients treated for complete left-sided cleft lip and palate and (2) control patients by laypeople and professionals. Left-side profile and frontal photographs of 20 adult patients treated for complete left-sided cleft lip and palate (10 men, 10 women, mean age: 20.5 years) and of 10 control patients with a class I occlusion (five men, five women, mean age: 22.1 years) were included in the study. The post-treatment photographs were evaluated by 15 adult laypeople, 14 orthodontists, and 10 maxillofacial surgeons. Each photograph was judged on a modified visual analogue scale (VA S, 0-10; 0 'very unattractive' to 10 'very attractive'). A four-level mixed model was fitted in which the VA S score was the dependent variable; cases, profession, view, and rater were independent variables. Compared with laypersons, orthodontists gave higher VA S scores (+0.69, 95% confidence interval (CI) [0.53, 0.84]; P < 0.001), followed by surgeons (+0.21, 95% CI [0.03, 0.38], P = 0.02). Controls were given significantly higher scores than patients with clefts for profile and frontal photographs (+1.97, 95% CI [1.60; 2.35], P < 0.001). No significant difference was found between the scores for the frontal and lateral views (P = 0.46). All the different rater panels were less satisfied with the facial aesthetics of patients with clefts compared with that of control patients. Further research should evaluate whether these findings correlate with patients' self-perception and to what extent it affects the patients' psychosocial well-being.

A Retrospective Study of Cleft lip and palate Patients' Satisfaction after Maxillary Distraction or Traditional Advancement of the Maxilla

PubMed Central

Nørholt, Sven Erik; Küseler, Annelise; Jensen, John; Pedersen, Thomas Klit

2012-01-01

ABSTRACT Objectives To compare cleft lip and palate patients' satisfaction with aesthetics and functional parameters after conventional advancement of the maxilla or by the use of distraction osteogenesis. Material and methods Case series observational study. Group of distraction osteogenesis (DO) consisted of 15 patients treated with distraction osteogenesis while group conventional (CONV) included 10 patients treated with traditional advancement of the maxilla. Patients were asked to fill out a questionnaire about their subjective evaluation of satisfaction with facial aesthetics and functional parameters on a continuous visual analog-scale (VAS) when the treatment was finished. Results The total response rate was 76%. Preoperatively the two groups did not differ significantly according to group characteristics. At follow-up both groups were satisfied with aesthetics and functional parameters. The DO group was less satisfied with the duration of the treatment than the CONV group. There were no statistically significant differences among the groups regarding functional parameters or facial aesthetics. Conclusions Cleft lip and palate patients experienced a high level of satisfaction with functional parameters and aesthetics as a result of surgical maxillary advancement. The patients treated with distraction osteogenesis were less satisfied with the duration of the treatment. Further studies are needed. PMID:24422010

Self-reports of psychosocial functioning among children and young adults with cleft lip and palate.

PubMed

Hunt, Orlagh; Burden, Donald; Hepper, Peter; Stevenson, Mike; Johnston, Chris

2006-09-01

A cross-sectional study was employed to determine the psychosocial effects of cleft lip and/or palate among children and young adults, compared with a control group of children and young adults without cleft lip and palate. The study comprised 160 children and young adults with cleft lip and/or palate and 113 children and young adults without cleft lip and/or palate. All participants were between 8 and 21 years of age. Psychological functioning (anxiety, self-esteem, depression, and behavioral problems) was assessed using validated psychological questionnaires. Happiness with facial appearance was rated using a visual analog scale. Social functioning, including experience of teasing/bullying and satisfaction with speech, was assessed using a semistructured interview. Participants with cleft lip and/or palate reported greater behavioral problems (p < .001) and more symptoms of depression (p < .01); they were teased more often (p < .001) and were less happy with their facial appearance (p < .01) and speech (p < .001), compared with controls. There were no significant difference between subjects with cleft lip and/or palate and subjects without cleft lip and/or palate in terms of anxiety (p > .05) or self-esteem (p > .05). Having been teased was a significant predictor of poor psychological functioning, more so than having a cleft lip and/or palate per se (p < .001). Teasing was greater among participants who had cleft lip and/ or palate and it was a significant predictor of poorer psychosocial functioning. Children and young adults with cleft lip and/or palate require psychological assessment, specifically focusing on their experience of teasing, as part of their routine cleft care.

[Long-term effects and influence on facial structure of palatal distraction].

PubMed

Liang, Li-min; Liu, Chun-ming; Xiong, Jun; Hou, Min

2003-11-01

The purpose of this study was to evaluate a new palatoplasty with persistent elastic distraction osteogenesis. Twenty mongrel dog aged in 6 month were divided into two groups: the control (n = 10) and the experimental group (n = 10). The cleft palate model was made surgically in experimental dogs. The hard palate clefts were repaired with persistent elastic distraction osteogenesis. Then the animals were observed for an additional 12 weeks before sacrifice. Direct measurements was taken on dry skulls of the dogs and the data were analyzed statistically. For all experimental dogs, the clefts were closed after gradual distraction. No relapse and airway blocking occurred in observational period. There were no significant differences in the variables of facial length, height and width between the two groups (P > 0.05). The length of horizontal portion of hard palate in experimental group was significantly longer than that in the control (P < 0.01). There was no complication and disturbance on maxillofacial structure in repairing cleft palate with persistent elastic distraction osteogenesis. It is an effective and safe technique for repairing cleft palate in animal model.

Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case.

PubMed

Schweitzer, Daniela N; Yano, Shoji; Earl, Dawn L; Graham, John M

2003-07-30

In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. An isolated case was reported later (Johnston et al. [1987: Am J Med Genet 26: 925-927]) and thereafter an affected mother and son (Hennekam and Holtus [1993: Am J Med Genet 47: 714-716]). We describe an additional unrelated female patient with features resembling those of the previously reported cases. She presented with intrauterine growth deficiency, microcephaly, alopecia, bilateral microtia with canal atresia, conductive hearing loss, partial left facial palsy, posterior cleft palate, left choanal stenosis, tetralogy of Fallot, developmental delay, and right thumb polydactyly. Because the phenotypic abnormalities in this syndrome affect the brain, facial structures, ectoderm and its derivatives, outflow tract of the heart, and Rathke's pouch derivatives, this has suggested to previous authors etiologic involvement of the ectoderm and neuroectoderm of the first and second branchial arches, Rathke's pouch, and the diencephalon. Microtia with conductive hearing loss differentiates the condition from other ectodermal dysplasias. In the initial report, females appeared somewhat less affected than males, and there was male-to-male transmission. The mother of our patient manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early-onset alopecia in the maternal grandfather's relatives. Copyright 2003 Wiley-Liss, Inc.

Diprosopus (partially duplicated head) associated with anencephaly: a case report.

PubMed

al Muti Zaitoun, A; Chang, J; Booker, M

1999-01-01

Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.

Three-dimensional facial analysis of Chinese children with repaired unilateral cleft lip and palate

NASA Astrophysics Data System (ADS)

Othman, Siti Adibah; Aidil Koay, Noor Airin

2016-08-01

We analyzed the facial features of Chinese children with repaired unilateral cleft lip and palate (UCLP) and compared them with a normal control group using a three-dimensional (3D) stereophotogrammetry camera. This cross-sectional study examined 3D measurements of the facial surfaces of 20 Chinese children with repaired UCLP and 40 unaffected Chinese children aged 7 to 12 years old, which were captured using the VECTRA 3D five-pod photosystem and analyzed using Mirror software. Twenty-five variables and two ratios were compared between both groups using independent t-test. Intra- and inter-observer reliability was determined using ten randomly selected images and analyzed using intra-class correlation coefficient test (ICC). The level of significance was set at p < 0.0018. Intra- and inter-observers’ reliability was considered fair to excellent with an ICC value ranging from 0.54 to 0.99. Statistically significant differences (p < 0.0018) were found mainly in the nasolabial region. The cleft group exhibited wider alar base root width, flattened nose and broader nostril floor width on the cleft side. They tended to have shorter upper lip length and thinner upper vermillion thickness. Faces of Chinese children with repaired UCLP displayed meaningful differences when compared to the normal group especially in the nasolabial regions.

Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst.

PubMed

Uppal, Surabhi; Jee, Youn Hee; Lightbourne, Marissa; Han, Joan C; Stratakis, Constantine A

2017-01-01

Tetrasomy X is a rare chromosomal aneuploidy seen in girls, associated with facial dysmorphism, premature ovarian insufficiency and intellectual disability. A Rathke's cleft cyst (RCC) is a remnant of Rathke's pouch which may cause multiple pituitary hormone deficiencies by exerting pressure on the pituitary gland in the sella. The patient was diagnosed with tetrasomy X by karyotyping during infancy. Brain MRI and multiple endocrine stimulation tests revealed RCC and combined pituitary hormone deficiency (growth hormone deficiency, secondary adrenal insufficiency and central hypothyroidism) likely due to RCC. We report the first case in the literature of a girl with 48, XXXX and combined pituitary hormone deficiency due to Rathke's cyst.

Prenatal diagnosis of orofacial clefts: association with maternal satisfaction, team care, and treatment outcomes.

PubMed

Robbins, James M; Damiano, Peter; Druschel, Charlotte M; Hobbs, Charlotte A; Romitti, Paul A; Austin, April A; Tyler, Margaret; Reading, J Alex; Burnett, Whitney

2010-09-01

Prenatal diagnosis of an orofacial cleft is thought to allow mothers greater opportunity to become prepared for the special needs of an infant with a cleft and plan for the care of their child. Using a population-based sample, we determined which children were more likely to be diagnosed prenatally, and whether early diagnosis was associated with maternal satisfaction and treatment outcomes. Interviews were completed with 235 (49% of eligible) mothers of children ages 2 to 7 with orofacial clefts initially enrolled in the National Birth Defects Prevention Study from the Arkansas, Iowa, and New York sites. Maternal satisfaction with information, support, and treatment outcomes was compared between women who received a prenatal diagnosis and those who did not. Of 235 infants with clefts, 46 (19.6%) were identified prenatally. One third of mothers were somewhat or not satisfied with information provided by medical staff. Satisfaction did not vary by timing of the diagnosis. Infants diagnosed prenatally were no more likely to have received care provided by a recognized multidisciplinary cleft team (76%) than were infants diagnosed at birth (78%). Speech problems and facial appearance as rated by the mother did not vary by timing of the diagnosis. Timing of the cleft diagnosis did not alter maternal satisfaction with information, whether care was provided by a designated cleft team, or maternal perception of facial appearance or speech. Further research should determine whether prenatal diagnoses alter maternal anxiety or influence postnatal morbidity.

Cone-Beam Computed Tomography Assessment of Lower Facial Asymmetry in Unilateral Cleft Lip and Palate and Non-Cleft Patients with Class III Skeletal Relationship.

PubMed

Lin, Yifan; Chen, Gui; Fu, Zhen; Ma, Lian; Li, Weiran

2015-01-01

To evaluate, using cone-beam computed tomography (CBCT), both the condylar-fossa relationships and the mandibular and condylar asymmetries between unilateral cleft lip and palate (UCLP) patients and non-cleft patients with class III skeletal relationship, and to investigate the factors of asymmetry contributing to chin deviation. The UCLP and non-cleft groups consisted of 30 and 40 subjects, respectively, in mixed dentition with class III skeletal relationships. Condylar-fossa relationships and the dimensional and positional asymmetries of the condyles and mandibles were examined using CBCT. Intra-group differences were compared between two sides in both groups using a paired t-test. Furthermore, correlations between each measurement and chin deviation were assessed. It was observed that 90% of UCLP and 67.5% of non-cleft subjects had both condyles centered, and no significant asymmetry was found. The axial angle and the condylar center distances to the midsagittal plane were significantly greater on the cleft side than on the non-cleft side (P=0.001 and P=0.028, respectively) and were positively correlated with chin deviation in the UCLP group. Except for a larger gonial angle on the cleft side, the two groups presented with consistent asymmetries showing shorter mandibular bodies and total mandibular lengths on the cleft (deviated) side. The average chin deviation was 1.63 mm to the cleft side, and the average absolute chin deviation was significantly greater in the UCLP group than in the non-cleft group (P=0.037). Compared with non-cleft subjects with similar class III skeletal relationships, the subjects with UCLP showed more severe lower facial asymmetry. The subjects with UCLP presented with more asymmetrical positions and rotations of the condyles on axial slices, which were positively correlated with chin deviation.

19q13.32 microdeletion syndrome: three new cases.

PubMed

Castillo, Angela; Kramer, Nancy; Schwartz, Charles E; Miles, Judith H; DuPont, Barbara R; Rosenfeld, Jill A; Graham, John M

2014-01-01

A previous report described a unique phenotype associated with an apparently de novo 732 kb 19q13.32 microdeletion, consisting of intellectual disability, facial asymmetry, ptosis, oculomotor abnormalities, orofacial clefts, cardiac defects, scoliosis and chronic constipation. We report three unrelated patients with developmental delay and dysmorphic features, who were all found to have interstitial 19q13.32 microdeletions of varying sizes. Both the previously reported patient and our Patient 1 with a larger, 1.3-Mb deletion have distinctive dysmorphic features and medical problems, allowing us to define a recognizable 19q13.32 microdeletion syndrome. Patient 1 was hypotonic and dysmorphic at birth, with aplasia of the posterior corpus callosum, bilateral ptosis, oculomotor paralysis, down-slanting palpebral fissures, facial asymmetry, submucosal cleft palate, micrognathia, wide-spaced nipples, right-sided aortic arch, hypospadias, bilateral inguinal hernias, double toenail of the left second toe, partial 2-3 toe syndactyly, kyphoscoliosis and colonic atony. Therefore, the common features of the 19q13.32 microdeletion syndrome include facial asymmetry, ptosis, oculomotor paralysis, orofacial clefting, micrognathia, kyphoscoliosis, aortic defects and colonic atony. These findings are probably related to a deletion of some combination of the 20-23 genes in common between these two patients, especially NPAS1, NAPA, ARHGAP35, SLC8A2, DHX34, MEIS3, and ZNF541. These candidate genes are expressed in the brain parenchyma, glia, heart, gastrointestinal tract and musculoskeletal system and likely play a fundamental role in the expression of this phenotype. This report delineates the phenotypic spectrum associated with the haploinsufficiency of genes found in 19q13.32. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Dominantly inherited syndrome of microcephaly and cleft palate.

PubMed

Halal, F

1983-05-01

Two sisters and their mother had a syndrome of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goiter, camptodactyly, mild mental retardation, and abnormal dermatoglyphics. This is an evidently dominantly inherited trait, either autosomal or X-linked.

Tbx1 regulates oral epithelial adhesion and palatal development

PubMed Central

Funato, Noriko; Nakamura, Masataka; Richardson, James A.; Srivastava, Deepak; Yanagisawa, Hiromi

2012-01-01

Cleft palate, the most frequent congenital craniofacial birth defect, is a multifactorial condition induced by the interaction of genetic and environmental factors. In addition to complete cleft palate, a large number of human cases involve soft palate cleft and submucosal cleft palate. However, the etiology of these forms of cleft palate has not been well understood. T-box transcriptional factor (Tbx) family of transcriptional factors has distinct roles in a wide range of embryonic differentiation or response pathways. Here, we show that genetic disruption of Tbx1, a major candidate gene for the human congenital disorder 22q11.2 deletion syndrome (Velo-cardio-facial/DiGeorge syndrome), led to abnormal epithelial adhesion between the palate and mandible in mouse, resulting in various forms of cleft palate similar to human conditions. We found that hyperproliferative epithelium failed to undergo complete differentiation in Tbx1-null mice (Tbx1−/−). Inactivation of Tbx1 specifically in the keratinocyte lineage (Tbx1KCKO) resulted in an incomplete cleft palate confined to the anterior region of the palate. Interestingly, Tbx1 overexpression resulted in decreased cell growth and promoted cell-cycle arrest in MCF7 epithelial cells. These findings suggest that Tbx1 regulates the balance between proliferation and differentiation of keratinocytes and is essential for palatal fusion and oral mucosal differentiation. The impaired adhesion separation of the oral epithelium together with compromised palatal mesenchymal growth is an underlying cause for various forms of cleft palate phenotypes in Tbx1−/− mice. Our present study reveals new pathogenesis of incomplete and submucous cleft palate during mammalian palatogenesis. PMID:22371266

Measuring Symmetry in Children With Unrepaired Cleft Lip: Defining a Standard for the Three-Dimensional Midfacial Reference Plane.

PubMed

Wu, Jia; Heike, Carrie; Birgfeld, Craig; Evans, Kelly; Maga, Murat; Morrison, Clinton; Saltzman, Babette; Shapiro, Linda; Tse, Raymond

2016-11-01

  Quantitative measures of facial form to evaluate treatment outcomes for cleft lip (CL) are currently limited. Computer-based analysis of three-dimensional (3D) images provides an opportunity for efficient and objective analysis. The purpose of this study was to define a computer-based standard of identifying the 3D midfacial reference plane of the face in children with unrepaired cleft lip for measurement of facial symmetry.   The 3D images of 50 subjects (35 with unilateral CL, 10 with bilateral CL, five controls) were included in this study.   Five methods of defining a midfacial plane were applied to each image, including two human-based (Direct Placement, Manual Landmark) and three computer-based (Mirror, Deformation, Learning) methods.   Six blinded raters (three cleft surgeons, two craniofacial pediatricians, and one craniofacial researcher) independently ranked and rated the accuracy of the defined planes.   Among computer-based methods, the Deformation method performed significantly better than the others. Although human-based methods performed best, there was no significant difference compared with the Deformation method. The average correlation coefficient among raters was .4; however, it was .7 and .9 when the angular difference between planes was greater than 6° and 8°, respectively.   Raters can agree on the 3D midfacial reference plane in children with unrepaired CL using digital surface mesh. The Deformation method performed best among computer-based methods evaluated and can be considered a useful tool to carry out automated measurements of facial symmetry in children with unrepaired cleft lip.

Dentofacial self-perception and social perception of adults with unilateral cleft lip and palate.

PubMed

Meyer-Marcotty, Philipp; Stellzig-Eisenhauer, Angelika

2009-05-01

The aim of this study was to investigate the influence of facial asymmetry on how an adult population with unilateral cleft lip and palate (CLP) perceived themselves and were perceived by others. 3D facial data of 30 adult patients with cleft lip and palate (CLP) was scanned and standardized extra- and intraoral photographs were taken. The measured degree of 3D asymmetry was computed for the entire face, midface and lower face. Subjective estimates regarding facial symmetry, attractiveness as well as satisfaction and a desire or indication for further treatment were surveyed by means of a questionnaire filled out by patients and an assessment group (10 orthodontists, 10 oral and maxillofacial (OM) surgeons, 15 laypersons). The study's results show that the largest degree of asymmetry was found in the midface of CLP patients. The vast majority of the patients were dissatisfied with their facial appearance, and patients, experts and laypersons expressed great interest in and a need of correction. We observed tangible incongruence between how the patients perceived their own faces and how others perceived them. Asymmetry, especially in the midface, appears to detract from how facial appearance is self-perceived and perceived by others, which explains the primary desire for or need of nose correction. The self-perception of patients affected by CLP does not correlate with objective results or how others perceive them. Clinicians should be open to adult patients' requests for correction, but the patient's self-perception should also be critically explored.

Cephalometric study of facial growth in children after combined pushback and pharyngeal flap operations.

PubMed

Pearl, R M; Kaplan, E N

1976-04-01

Linear and angular cephalometric measurements of children who had had combined palatal pushbacks and superiorly-based pharyngeal flaps do not show later growth retardation of the face. There was an inherent tendency for children with overt clefts of the secondary palate, classic submucous clefts, or occult submucous clefts to demonstrate pre-operatively a narrow SNA and SNB--but the difference between these angles (ANB) was normal.

Folate and One-Carbon Metabolism Gene Polymorphisms and Their Associations With Oral Facial Clefts

PubMed Central

Boyles, Abee L.; Wilcox, Allen J.; Taylor, Jack A.; Meyer, Klaus; Fredriksen, Åse; Ueland, Per Magne; Drevon, Christian A.; Vollset, Stein Emil; Lie, Rolv Terje

2008-01-01

Folate metabolism plays a critical role in embryonic development. Prenatal folate supplementation reduces the risk of neural tube defects and probably oral facial clefts. Previous studies of related metabolic genes have associated polymorphisms in cystathionine-beta-synthase (CBS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) with cleft risk. We explored associations between genes related to one-carbon metabolism and clefts in a Norwegian population-based study that included 362 families with cleft lip with or without cleft palate (CL/P) and 191 families with cleft palate only (CPO). We previously showed a 39% reduction in risk of CL/P with folic acid supplementation in this population. In the present study we genotyped 12 polymorphisms in nine genes related to one-carbon metabolism and looked for associations of clefting risk with fetal polymorphisms, maternal polymorphisms, as well as parent-of-origin effects, using combined likelihood-ratio tests (LRT). We also stratified by maternal periconceptional intake of folic acid (>400 μg) to explore gene-exposure interactions. We found a reduced risk of CL/P with mothers who carried the CBS C699T variant (rs234706); relative risk was 0.94 with one copy of the T allele (95% CI 0.63-1.4) and 0.50 (95% CI 0.26-0.96) with two copies (P = 0.008). We found no evidence of interaction of this variant with folate status. We saw no evidence of risk from the MTHFR C677T variant (rs1801133) either overall or after stratifying by maternal folate intake. No associations were found between any of the polymorphisms and CPO. Genetic variations in the nine metabolic genes examined here do not confer a substantial degree of risk for clefts. Published 2008 Wiley-Liss, Inc.† PMID:18203168

Measuring quality of life in cleft lip and palate patients: currently available patient-reported outcomes measures.

PubMed

Eckstein, Donna A; Wu, Rebecca L; Akinbiyi, Takintope; Silver, Lester; Taub, Peter J

2011-11-01

Patient-reported outcomes in cleft lip and palate treatment are critical for patient care. Traditional surgical outcomes focused on objective measures, such as photographs, anatomic measurements, morbidity, and mortality. Although these remain important, they leave many questions unanswered. Surveys that include aesthetics, speech, functionality, self-image, and quality of life provide more thorough outcomes assessment. It is vital that reliable, valid, and comprehensive questionnaires are available to craniofacial surgeons. The authors performed a literature review to identify questionnaires validated in cleft lip and palate patients. Qualifying instruments were assessed for adherence to guidelines for development and validation by the scientific advisory committee and for content. The authors identified 44 measures used in cleft lip and palate studies. After 15 ad hoc questionnaires, eight generic instruments, 11 psychiatric instruments, and one non-English language questionnaire were excluded, nine measures remained. Of these, four were never validated in the cleft population. Analysis revealed one craniofacial-specific measure (Youth Quality of Life-Facial Differences), two voice-related measures (Patient Voice-Related Quality of Life and Cleft Audit Protocol for Speech-Augmented), and two oral health-related measures (Child Oral Health Impact Profile and Child Oral Health Quality of Life). The Youth Quality of Life-Facial Differences, Child Oral Health Impact Profile, and Child Oral Health Quality of Life questionnaires were sufficiently validated. None was created specifically for clefts, resulting in content limitations. There is a lack of comprehensive, valid, and reliable questionnaires for cleft lip and palate surgery. For thorough assessment of satisfaction, further research to develop and validate cleft lip and palate surgery-specific instruments is needed.

Facial growth and development in unilateral cleft lip and palate from the time of palatoplasty to the onset of puberty: a longitudinal study.

PubMed

Smahel, Z; Müllerová, Z

1995-01-01

X-ray cephalometry was used for the assessment of facial growth and development from the time of palate surgery to the onset of puberty (from 5 to 11 years) in 24 boys with unilateral cleft lip and palate treated with primary periosteoplasty (at 8 months) and palatal pushback supplemented by pharyngeal flap surgery (at 5 years). The lowest growth showed the depth of the maxilla and the height of the upper lip. An increasing protrusion of the mandible and in particular the increasing retrusion of the maxilla resulted in a flattening of the face and in an impairment of sagittal jaw relations. However, it was possible to attain an improvement of overjet produced by a substantial increase of the proclination of upper incisors and of the alveolar process. There was a deterioration of the prominence of the upper lip. Anterior growth rotation was absent during the development of the face, though a rotation in both directions was quite common in individual cases. The steepness of the mandibular body, vertical jaw relations, and facial vertical proportions remained unchanged. As compared to the pubertal period, the growth and development differed only by a more marked proclination of the dentoalveolar component of the maxilla and by an improvement of overjet. Facial convexity and sagittal jaw relations deteriorated in more than 90% of the patients, the overjet only in 20%, yet the prominence of the lip in 70%. Facial convexity and sagittal jaw relations were not correlated with mandibular rotation but they affected the overjet and the prominence of the upper lip.(ABSTRACT TRUNCATED AT 250 WORDS)

Molecular analysis of holoprosencephaly in South America

PubMed Central

Savastano, Clarice Pagani; El-Jaick, Kênia Balbi; Costa-Lima, Marcelo Aguiar; Abath, Cristina Maria Batista; Bianca, Sebastiano; Cavalcanti, Denise Pontes; Félix, Têmis Maria; Scarano, Gioacchino; Llerena, Juan Clinton; Vargas, Fernando Regla; Moreira, Miguel Ângelo Martins; Seuánez, Hector N.; Castilla, Eduardo Enrique; Orioli, Iêda Maria

2014-01-01

Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene mutations. Here, we present a clinical and molecular analysis of 195 probands with HPE or microforms; approximately 72% of the patients were derived from the Latin American Collaborative Study of Congenital Malformations (ECLAMC), and 82% of the patients were newborns. Alobar HPE was the predominant brain defect in almost all facial defect categories, except for patients without oral cleft and median or lateral oral clefts. Ethmocephaly, cebocephaly, and premaxillary agenesis were primarily observed among female patients. Premaxillary agenesis occurred in six of the nine diabetic mothers. Recurrence of HPE or microform was approximately 19%. The frequency of microdeletions, detected using Multiplex Ligation-dependant Probe Amplification (MLPA) was 17% in patients with a normal karyotype. Cytogenetics or QF-PCR analyses revealed chromosomal anomalies in 27% of the probands. Mutational analyses in genes SHH, ZIC2, SIX3 and TGIF were performed in 119 patients, revealing eight mutations in SHH, two mutations in SIX3 and two mutations in ZIC2. Thus, a detailed clinical description of new HPE cases with identified genetic anomalies might establish genotypic and phenotypic correlations and contribute to the development of additional strategies for the analysis of new cases. PMID:24764759

A novel computer system for the evaluation of nasolabial morphology, symmetry and aesthetics after cleft lip and palate treatment. Part 2: Comparative anthropometric analysis of patients with repaired unilateral complete cleft lip and palate and healthy individuals.

PubMed

Pietruski, Piotr; Majak, Marcin; Pawlowska, Elzbieta; Skiba, Adam; Antoszewski, Boguslaw

2017-04-01

The aim of this study was to use a novel system, 'Analyse It Doc' (A.I.D.) for a complex anthropometric analysis of the nasolabial region in patients with repaired unilateral complete cleft lip and palate and in healthy individuals. A set of standardized facial photographs in frontal, lateral and submental view have been taken in 50 non-cleft controls (mean age 20.6 years) and 42 patients with repaired unilateral complete cleft and palate (mean age 19.57 years). Then, based on linear, angular and area measurements taken from the digital photographs with the aid of the A.I.D. system, a photogrammetric analysis of intergroup differences in nasolabial morphology and symmetry was conducted. Patients with cleft lip and palate differed from the controls in terms of more than half of analysed angular measurements and proportion indices derived from linear and area measurements of the nasolabial region. The findings presented herein imply that despite primary surgical repair, patients with unilateral complete cleft lip and palate still show some degree of nasolabial dysmorphology. Furthermore, the study demonstrated that the novel computer system is suitable for a reliable, simple and time-efficient anthropometric analysis in a clinical setting. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Cleft Palate, Retrognathia and Congenital Heart Disease in Velo-Cardio-Facial Syndrome: A Phenotype Correlation Study

PubMed Central

Friedman, Marcia A.; Miletta, Nathanial; Roe, Cheryl; Wang, Dongliang; Morrow, Bernice E.; Kates, Wendy R.; Higgins, Anne Marie; Shprintzen, Robert J.

2011-01-01

Objective Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are predictable patterns of expression. Two of the most common phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common genetic relationship to the deleted T-box 1 gene (TBX1). The purpose of this study is to determine if congenital heart disease and cleft palate are correlated in a large cohort of human subjects with VCFS. Methods This study is a retrospective chart review including 316 Caucasian non-Hispanic subjects with FISH or CGH microarray confirmed chromosome 22q11.2 deletions. All subjects were evaluated by the interdisciplinary team at the Velo-Cardio-Facial Syndrome International Center at Upstate Medical University, Syracuse, NY. Each combination of congenital heart disease, cleft palates, and retrognathia was analyzed by chi square or Fisher exact test. Results For all categories of congenital heart disease and cleft palate or retrognathia no significant associations were found, with the exception of submucous cleft palate and retrognathia (nominal p=0.0325) and occult submucous cleft palate and retrognathia (nominal p=0.000013). Conclusions Congenital heart disease and cleft palate do not appear to be correlated in human subjects with VCFS despite earlier suggestions from animal models. Possible explanations include modification of the effect of TBX1 by genes outside of the 22q11.2 region that may further influence the formation of the palate or heart, or the presence of epigenetic factors that may effect genes within the deleted region, modifying genes elsewhere, or polymorphisms on the normal copy of chromosome 22. Lastly, it is possible that TBX1 plays a role in palate formation in some species, but not in humans. In VCFS, retrognathia is caused by an obtuse angulation of the skull base. It is unknown if the correlation between retrognathia and cleft palate in VCFS indicates a developmental sequence related to skull morphology, or direct gene effects of both anomalies. Much work remains to be done to fully understand the complex relationships between phenotypic characteristics in VCFS. PMID:21763005

Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study.

PubMed

Friedman, Marcia A; Miletta, Nathanial; Roe, Cheryl; Wang, Dongliang; Morrow, Bernice E; Kates, Wendy R; Higgins, Anne Marie; Shprintzen, Robert J

2011-09-01

Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are predictable patterns of expression. Two of the most common phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common genetic relationship to the deleted T-box 1 gene (TBX1). The purpose of this study is to determine if congenital heart disease and cleft palate are correlated in a large cohort of human subjects with VCFS. This study is a retrospective chart review including 316 Caucasian non-Hispanic subjects with FISH or CGH microarray confirmed chromosome 22q11.2 deletions. All subjects were evaluated by the interdisciplinary team at the Velo-Cardio-Facial Syndrome International Center at Upstate Medical University, Syracuse, NY. Each combination of congenital heart disease, cleft palates, and retrognathia was analyzed by Chi square or Fisher exact test. For all categories of congenital heart disease and cleft palate or retrognathia no significant associations were found, with the exception of submucous cleft palate and retrognathia (nominal p=0.0325) and occult submucous cleft palate and retrognathia (nominal p=0.000013). Congenital heart disease and cleft palate do not appear to be correlated in human subjects with VCFS despite earlier suggestions from animal models. Possible explanations include modification of the effect of TBX1 by genes outside of the 22q11.2 region that may further influence the formation of the palate or heart, or the presence of epigenetic factors that may effect genes within the deleted region, modifying genes elsewhere, or polymorphisms on the normal copy of chromosome 22. Lastly, it is possible that TBX1 plays a role in palate formation in some species, but not in humans. In VCFS, retrognathia is caused by an obtuse angulation of the skull base. It is unknown if the correlation between retrognathia and cleft palate in VCFS indicates a developmental sequence related to skull morphology, or direct gene effects of both anomalies. Much work remains to be done to fully understand the complex relationships between phenotypic characteristics in VCFS. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Maxillary rehabilitation using a removable partial denture with attachments in a cleft lip and palate patient: a clinical report.

PubMed

Palmeiro, Marina Rechden Lobato; Piffer, Caroline Scheeren; Brunetto, Vivian Martins; Maccari, Paulo César; Shinkai, Rosemary Sadami Arai

2015-04-01

Clefts of the lip and/or palate (CLP) are oral-facial defects that affect health and overall quality of life. CLP patients often need multidisciplinary treatment to restore oral function and esthetics. This paper describes the oral rehabilitation of a CLP adult patient who had maxillary bone and tooth loss, resulting in decreased occlusal vertical dimension. Functional and cosmetic rehabilitation was achieved using a maxillary removable partial denture (RPD) attached to telescopic crowns. Attachment-retained RPDs may be a cost-effective alternative for oral rehabilitation in challenging cases with substantial loss of oral tissues, especially when treatment with fixed dental prostheses and/or dental implants is not possible. © 2014 by the American College of Prosthodontists.

The Slav-cleft: A three-center study of the outcome of treatment of cleft lip and palate. Part 1: Craniofacial morphology.

PubMed

Urbanova, Wanda; Klimova, Irena; Brudnicki, Andrzej; Polackova, Petra; Kroupova, Daniela; Dubovska, Ivana; Rachwalski, Martin; Fudalej, Piotr Stanislaw

2016-11-01

Results of a comparison of the outcomes of treatment of cleft lip and palate can be affected by growth characteristics of populations from which subjects with the clefts are derived. Moreover, conventional cephalometric techniques used in cleft studies for analysis of facial morphology provide only a partial description of shape and are confounded by biases regarding the reference structures. In this retrospective comparison, craniofacial morphology of preadolescent patients with unilateral cleft lip and palate treated in Warsaw (n = 35, age = 10.6 years, SD = 1.2), Prague (n = 38, age = 11.6 years, SD = 1.4), and Bratislava (n = 26, age = 10.5 years, SD = 1.6) were evaluated on cephalograms with the cephalometric method used in the Eurocleft study and geometric morphometrics. We found that patients treated in Warsaw showed slightly more favorable outcomes than in Prague and Bratislava. The differences were related primarily to the position of maxillary alveolar process, cranial base, mandibular angle, and soft tissues. Although no association between a component of treatment protocol and the outcome was found, it is possible that organizational factors such as participation of high-volume, experienced surgeons contributed to these results. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Cleft-Related Orthognathic Surgery Based on Maxillary Vertical Lengthening of the Anterior Facial Height.

PubMed

Jeong, Woo Shik; Jeong, Hyung Hwa; Kwon, Soon Man; Koh, Kyung S; Choi, Jong Woo

2018-03-01

The conventional approach during orthognathic surgery for cleft-related deformities has focused largely on restoration of maxilla retrusion, using the maxillary advancement as a standard treatment objective. However, the authors thought that maxillary vertical shortening and deficient incisor show could be additional key elements of cleft-related deformities. Although slight vertical lengthening can be obtained with only maxillary advancement, it would not be enough to obtain satisfactory aesthetic results in terms of the anterior facial height. The authors hypothesized that vertical deficiency and anteroposterior maxillary retrusion exists in cleft-related deformities. Therefore, orthognathic surgery including intentional vertical lengthening and advancement would be better than the conventional simple advancement. A new approach was used to treat consecutive patients with dentofacial deformities between December of 2007 and December of 2016. Patients with cleft-related dentofacial deformities were included in the study. Forty-one patients with cleft-related dentofacial deformities were included. The distance from the nasion to the incisor tip was 76.70 mm; the angle of the lines connecting the sella, nasion, and point A was 74.03 degrees; and the incisor show was 1.02 mm. Corresponding measurements in 40 patients without clefts were 81.57 mm, 80.08 degrees, and 3.38 mm, respectively. Postoperatively, the average vertical lengthening achieved was 0.88 mm in the simple maxillary advancement group and 7.65 mm in the intentional vertical lengthening accompanied by maxillary advancement group. The authors' results suggest that simultaneous maxillary vertical lengthening with horizontal advancement is a viable approach to orthognathic surgery for cleft-related deformities, given the long-term stability of outcomes demonstrated in this study. Therapeutic, III.

Three-dimensional Imaging Methods for Quantitative Analysis of Facial Soft Tissues and Skeletal Morphology in Patients with Orofacial Clefts: A Systematic Review

PubMed Central

Kuijpers, Mette A. R.; Chiu, Yu-Ting; Nada, Rania M.; Carels, Carine E. L.; Fudalej, Piotr S.

2014-01-01

Background Current guidelines for evaluating cleft palate treatments are mostly based on two-dimensional (2D) evaluation, but three-dimensional (3D) imaging methods to assess treatment outcome are steadily rising. Objective To identify 3D imaging methods for quantitative assessment of soft tissue and skeletal morphology in patients with cleft lip and palate. Data sources Literature was searched using PubMed (1948–2012), EMBASE (1980–2012), Scopus (2004–2012), Web of Science (1945–2012), and the Cochrane Library. The last search was performed September 30, 2012. Reference lists were hand searched for potentially eligible studies. There was no language restriction. Study selection We included publications using 3D imaging techniques to assess facial soft tissue or skeletal morphology in patients older than 5 years with a cleft lip with/or without cleft palate. We reviewed studies involving the facial region when at least 10 subjects in the sample size had at least one cleft type. Only primary publications were included. Data extraction Independent extraction of data and quality assessments were performed by two observers. Results Five hundred full text publications were retrieved, 144 met the inclusion criteria, with 63 high quality studies. There were differences in study designs, topics studied, patient characteristics, and success measurements; therefore, only a systematic review could be conducted. Main 3D-techniques that are used in cleft lip and palate patients are CT, CBCT, MRI, stereophotogrammetry, and laser surface scanning. These techniques are mainly used for soft tissue analysis, evaluation of bone grafting, and changes in the craniofacial skeleton. Digital dental casts are used to evaluate treatment and changes over time. Conclusion Available evidence implies that 3D imaging methods can be used for documentation of CLP patients. No data are available yet showing that 3D methods are more informative than conventional 2D methods. Further research is warranted to elucidate it. Systematic review registration International Prospective Register of Systematic Reviews, PROSPERO CRD42012002041 PMID:24710215

Le Fort I distraction using internal devices for maxillary hypoplasia in patients with cleft lip, palate, and alveolus: complications and their prevention and management.

PubMed

Mitsukawa, Nobuyuki; Satoh, Kaneshige; Morishita, Tadashi

2010-09-01

In recent years, advancement has been made in distraction osteogenesis in the facial area. It has been applied actively to treat maxillary hypoplasia in patients with cleft lip, palate, and alveolus. Le Fort I distraction using internal devices does not lead to disability in daily living, including during the retention period, and has low surgical invasiveness, facile management, and superior aesthetics. Thus, there have been occasional reports on this procedure in recent years. Because an internal device is unidirectional, the greatest disadvantage is the inability to adjust the direction of distraction after its placement. However, past reports have emphasized its advantages, and its complications have rarely been discussed. We performed Le Fort I distraction using internal devices on 15 young patients. Our results showed notable complications in a few cases. When serial cephalometric analysis was performed after maxillary distraction, it demonstrated that the maxilla assumes various three-dimensional distraction morphologies. In particular, cases with insufficient bone grafting of alveolar clefts developed collapse mainly in the alveolar cleft region during postoperative distraction. Mobility and deviation of the maxillary bone fragment occurred. We implemented preventative measures against complications such as using modifications to place the devices parallel on the left and right sides and using a bite splint for distraction. These measures produced improved outcomes, and we describe here the details.

[Selective neck dissection for treating recurrent branchial anomalies].

PubMed

Chen, Liangsi; Song, Xinhan; Zhang, Siyi; Han, Zhijuan; Luo, Xiaoning; Chen, Shaohua; Zhan, Jiandong

2011-01-01

To evaluate the role of selective neck dissection in the treatment of recurrent branchial anomalies. The clinical data of 18 patients with recurrent branchial anomalies were retrospectively analyzed. In accordance with the embryologic and anatomic features of branchial anomalies, different types of selective neck dissection were applied. With dissection and protection of important vessels, nerves and other structures, enbloc resection principles were applied to extirpate branchial lesions, scarrings and inflammatory granuloma during the operation. Of all 18 patients, 16 cases were healed with primary healing, 2 cases with local incision infection were healed after dressing changes. A temporary facial nerve paralysis occurred in 1 case with recurrent first branchial cleft fistula postoperatively, and completely recovered 2 months after operation. A postoperative temporary vocal cord paralysis occurred in 1 case with recurrent fourth branchial cleft fistula, and totally recuperated 1 month after operation. No recurrences were found in all 18 cases with a follow-up period of 12-78 months (average 35 months). Selective neck dissection is a safe and effective surgical procedure for the radical treatment of recurrent branchial anomalies.

Atypical findings in three patients with Pai syndrome and literature review.

PubMed

Lederer, Damien; Wilson, Brian; Lefesvre, Pierre; Poorten, Vincent Vander; Kirkham, Nigel; Mitra, Dipayan; Verellen-Dumoulin, Christine; Devriendt, Koenraad

2012-11-01

Pai syndrome is a rare disorder characterized by congenital nasal or facial polyp, midline cleft lip, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report on three patients with Pai syndrome and atypical findings: temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true tracheal bronchus, and epilepsy. Thirty-three cases of Pai syndrome have been described so far. We present a review of the previously reported cases and suggest modified diagnostic criteria for Pai syndrome. Copyright © 2012 Wiley Periodicals, Inc.

Bilateral cleft lip and palate: A morphometric analysis of facial skeletal form using cone beam computed tomography.

PubMed

Starbuck, John M; Ghoneima, Ahmed; Kula, Katherine

2015-07-01

Bilateral cleft lip and palate (BCLP) is caused by a lack of merging of maxillary and nasal facial prominences during development and morphogenesis. BCLP is associated with congenital defects of the oronasal facial region that can impair ingestion, mastication, speech, and dentofacial development. Using cone beam computed tomography (CBCT) images, 7- to 18-year old individuals born with BCLP (n = 15) and age- and sex-matched controls (n = 15) were retrospectively assessed. Coordinate values of three-dimensional facial skeletal anatomical landmarks (n = 32) were measured from each CBCT image. Data were evaluated using principal coordinates analysis (PCOORD) and Euclidean Distance Matrix Analysis (EDMA). PCOORD axes 1-3 explain approximately 45% of the morphological variation between samples, and specific patterns of morphological differences were associated with each axis. Approximately, 30% of facial skeletal measures significantly differ by confidence interval testing (α = 0.10) between samples. While significant form differences occur across the facial skeleton, strong patterns of differences are localized to the lateral and superioinferior aspects of the nasal aperture. In conclusion, the BCLP deformity significantly alters facial skeletal morphology of the midface and oronasal regions of the face, but morphological differences were also found in the upper facial skeleton and to a lesser extent, the lower facial skeleton. This pattern of strong differences in the oronasal region of the facial skeleton combined with differences across the rest of the facial complex underscores the idea that bones of the craniofacial skeleton are integrated. © 2015 Wiley Periodicals, Inc.

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome.

PubMed

Rachmiel, Adi; Turgeman, Shahar; Emodi, Omri; Aizenbud, Dror; Shilo, Dekel

2018-02-01

Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis. Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3). Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane. We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation.

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome

PubMed Central

Rachmiel, Adi; Emodi, Omri; Aizenbud, Dror; Shilo, Dekel

2018-01-01

Background: Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis. Methods: Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3). Results: Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane. Conclusions: We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation. PMID:29616174

Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate: 8. Assessing naso-labial appearance in 5-year-olds - a preliminary study.

PubMed

Mølsted, Kirsten; Humerinta, Kirsti; Küseler, Annelise; Skaare, Pål; Bellardie, Haydn; Shaw, William; Karsten, Agneta; Kåre Sæle, Paul; Rizell, Sara; Marcusson, Agneta; Eyres, Philip; Semb, Gunvor

2017-02-01

Facial appearance is one of the most relevant measures of success in cleft lip and palate treatment. The aim was to assess nasolabial appearance at 5 years of age in all children in the project. In this part of the project the local protocol for lip closure continued to be used because the primary lip and nose operations were not part of the randomisation. The great majority of the surgeons used Millard's technique together with McComb's technique for the nose. One center used Tennison-Randalls technique and in one center the centers own technique as well as nose plugs were used. Three hundred and fifty-nine children participated in this part of the project. Standardised photos according to a specific protocol developed for the Scandcleft project were taken. Only the nasolabial area was shown, the surrounding facial features were masked. Three components were scored using a 5-point ordinal scale. A new developed Scandcleft Yardstick was used. The reliability of the method was tested using the weighted kappa statistics. Both the interrater and intrarater reliability scores were good to very good. There were statistically significant differences between the three trials. The Millard procedure combined with McComb technique had been used in the majority of the cases in all three trials. There were statistically significant differences between the three trials concerning upper lip, nasal form, and cleft side profile. ISRCTN29932826.

Facial Anthropometric Evaluation of Unilateral Cleft Lip and Palate Patients: Infancy Through Adolescence.

PubMed

Dehghani, Mahboobe; Jahanbin, Arezoo; Omidkhoda, Maryam; Entezari, Mostafa; Shadkam, Elaheh

2018-03-01

Craniofacial anthropometric studies measure the differences in humans' craniofacial dimensions. The aim of this study was to determine facial anthropometric dimensions of newborn to 12-year-old girls with nonsyndromic unilateral cleft lip and palate (UCLP). In this cross-sectional analytical study, data was collected from 65 infant to 12-year old girls with UCLP. Digital frontal and profile facial photographs were transferred to a computer and desired anthropometric landmarks were traced on each image. Fifteen anthropometric parameters were measured which were the angles of facial, nasofacial, nasomental, Z, nasolabial, inclination of nasal base and labial fissure, nasal deviation, mentocervical, facial convexity and also ratios of nasal prominence relative to nasal height, middle to lower facial third, upper lip to lower lip height, columellar length relative to upper lip, and incisal show relative to incisal width. Pearson coefficient and linear regression were used for statistical analysis. Upper lip to lower lip height ratio and angles of nasofacial, nasolabial, and facial convexity decreased with the age of the patients. In contrast, nasomental angle and the ratios of columellar length to upper lip length, middle facial height to lower facial height, and incisal show relative to incisal width increased. Other parameters studied did not appear to have any significant correlation with age. In the girls with UCLP, various craniofacial dimensions have different growth rates with some parts growing slower than others. Some of the parameters studied were significantly correlated with age, thus growth-related curves and equations were obtained and presented.

Cleft lip and palate: Parental experiences of stigma, discrimination, and social/structural inequalities

PubMed Central

Adeyemo, Wasiu Lanre; James, Olutayo; Butali, Azeez

2016-01-01

Background: Cleft lip and palate (CLP) are the most common craniofacial birth impairment and one of the most common congenital impairments in humans. Anecdotal evidence suggests that stigmatization, discrimination, and sociocultural inequalities are common “phenomenon” experienced by families of children with CLP in Nigeria. This study aimed to explore the stigmatization, discrimination, and sociocultural inequalities experiences of families with children born with CLP. Materials and Methods: The study was carried out at the surgical outpatient cleft clinic of the Lagos University Teaching Hospital, Lagos, Nigeria. This was a cross-sectional descriptive study among mothers of children born with CLP, using both interviewer-administered questionnaire and a semi-structured interview. Results: A total of 51 mothers of children with cleft lip and/or palate participated in the study. 35.3% of respondents believed cleft was an “act of God,” whereas others believed it was either due to “evil spirit” (5.9%), “wicked people” (9.8%). Seventy-three percent of the mothers were ashamed of having a child with orofacial cleft. Two of the respondents wanted to abandon the baby in the hospital. About a quarter of the respondent wished the child was never born and 59% of the fathers were ashamed of the facial cleft. Fifty-one percent admitted that their relatives were ashamed of the orofacial cleft, and 65% admitted that their friends were ashamed of the cleft. In addition, 22% of the respondents admitted that they have been treated like an outcast by neighbors, relatives, and friends because of the cleft of their children. When asked about refusal to carry the affected children by friends, relatives, and neighbors, 20% of respondents said “Yes.” Conclusions: Myths surrounding the etiology of orofacial cleft are prevalent in Nigeria. Parents and individuals with CLP experience stigma as well as social and structural inequalities due to societal perceptions and misconception about CLP. Public and health-care professionals must be equipped with necessary knowledge to combat stigma, discrimination, social and structural inequalities, and misconceptions associated with orofacial cleft. CLP should be considered a facial difference rather than a disability. PMID:28299257

Nasal Duplication Combined with Cleft Lip and Palate: Surgical Correction and Long-Term Follow-Up.

PubMed

Long, Kanharith; Yamaguchi, Kazuaki; Lonic, Daniel; Long, Vanna; Chhoeurn, Vuthy; Lo, Lun-Jou

2017-10-01

Diprosopus dirrhinus, or nasal duplication, is a rare entity of partial craniofacial duplication. The case we present is the first report of diprosopus dirrhinus associated with complete cleft lip and palate. The baby was born in Cambodia at full term by normal vaginal delivery with no significant perinatal and family history. Physical examination revealed significant facial deformity due to the duplicated nose and the left complete cleft lip/palate on the right subset. There were 4 nostrils; both medial apertures including the cleft site were found to be 10-15 mm deep cul-de-sac structures without communication to the nasopharynx. The upper third of the face was notable for hypertelorism with a duplication of the soft-tissue nasion and glabella. Between the 2 nasal dorsums, there was a small cutaneous depression with a lacrimal fistula in the midline. Surgical treatment included the first stage of primary lip and nose repair and the second stage of palatoplasty. The patient was followed up at the age of 10 years showing satisfactory results for both aesthetic and functional aspects. Further management in the future will be required for the hypertelorism and nasal deformity.

Nasal Duplication Combined with Cleft Lip and Palate: Surgical Correction and Long-Term Follow-Up

PubMed Central

Long, Kanharith; Yamaguchi, Kazuaki; Lonic, Daniel; Long, Vanna; Chhoeurn, Vuthy

2017-01-01

Background: Diprosopus dirrhinus, or nasal duplication, is a rare entity of partial craniofacial duplication. Methods: The case we present is the first report of diprosopus dirrhinus associated with complete cleft lip and palate. The baby was born in Cambodia at full term by normal vaginal delivery with no significant perinatal and family history. Physical examination revealed significant facial deformity due to the duplicated nose and the left complete cleft lip/palate on the right subset. Results: There were 4 nostrils; both medial apertures including the cleft site were found to be 10–15 mm deep cul-de-sac structures without communication to the nasopharynx. The upper third of the face was notable for hypertelorism with a duplication of the soft-tissue nasion and glabella. Between the 2 nasal dorsums, there was a small cutaneous depression with a lacrimal fistula in the midline. Surgical treatment included the first stage of primary lip and nose repair and the second stage of palatoplasty. Conclusions: The patient was followed up at the age of 10 years showing satisfactory results for both aesthetic and functional aspects. Further management in the future will be required for the hypertelorism and nasal deformity. PMID:29184738

Cleft Lip – A Comprehensive Review

PubMed Central

Shkoukani, Mahdi A.; Chen, Michael; Vong, Angela

2013-01-01

Orofacial clefts comprise a range of congenital deformities and are the most common head and neck congenital malformation. Clefting has significant psychological and socio- economic effects on patient quality of life and require a multidisciplinary team approach for management. The complex interplay between genetic and environmental factors play a significant role in the incidence and cause of clefting. In this review, the embryology, classification, epidemiology, and etiology of cleft lip are discussed. The primary goals of surgical repair are to restore normal function, speech development, and facial esthetics. Different techniques are employed based on surgeon expertise and the unique patient presentations. Pre-surgical orthopedics are frequently employed prior to definitive repair to improve outcomes. Long term follow up and quality of life studies are discussed. PMID:24400297

20 years of cleft lip and palate missions

PubMed Central

Lambrecht, J. Thomas; Kreusch, Thomas; Marsh, Jeff L.; Schopper, Christian

2014-01-01

Volunteer missions for cleft lip and palate (CLP) care in Indonesia (1991-1992), India (1994-2003), Bhutan (2005-2010), and Kenya (2011), took place always at the same Hospital in each country. Altogether over a thousand patients were operated using a conservative protocol: Safety first - no experiments. Five months and 5 kg were the basic rules. For the native doctors, training help for self-help was priority. In the announcements, patients with CLP were primarily addressed. Burns, contractions, tumors, and trauma-cases were the second priority. Fresh trauma was done in night shifts with the local surgeons in order not to interfere. Besides facial esthetics speech was the number one issue, following priorities fell into place. Cultural aspects played a certain role in the different countries and continents. PMID:25593861

20 years of cleft lip and palate missions.

PubMed

Lambrecht, J Thomas; Kreusch, Thomas; Marsh, Jeff L; Schopper, Christian

2014-01-01

Volunteer missions for cleft lip and palate (CLP) care in Indonesia (1991-1992), India (1994-2003), Bhutan (2005-2010), and Kenya (2011), took place always at the same Hospital in each country. Altogether over a thousand patients were operated using a conservative protocol: Safety first - no experiments. Five months and 5 kg were the basic rules. For the native doctors, training help for self-help was priority. In the announcements, patients with CLP were primarily addressed. Burns, contractions, tumors, and trauma-cases were the second priority. Fresh trauma was done in night shifts with the local surgeons in order not to interfere. Besides facial esthetics speech was the number one issue, following priorities fell into place. Cultural aspects played a certain role in the different countries and continents.

Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.

PubMed Central

Nagai, K; Nagao, M; Nagao, M; Yanai, S; Minagawa, K; Takahashi, Y; Takekoshi, Y; Ishizaka, A; Matsuzono, Y; Kobayashi, O; Itagaki, T

1998-01-01

We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a posterior cleft palate, hypertelorism, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and the right foot, features compatible with the oral-facial-digital syndrome (OFDS). In addition, she had bilateral microphthalmia, optic disc coloboma, and retinal degeneration with partial detachment, thus establishing a diagnosis of OFDS type IX. Dandy-Walker malformation and retrobulbar cysts were observed on MRI. These additional malformations have not been reported in OFDS type IX. The frequent apnoeic spells which occurred immediately after birth were relieved after cystoperitoneal shunt implantation for hydrocephalus. Considering our case and previous reports of OFDS type IX, including two male sibs, a boy born to consanguineous parents, and three females, inheritance is probably autosomal recessive. Images PMID:9598735

Interdisciplinary treatment of an adolescent with unilateral cleft lip and palate.

PubMed

Adusumilli, Sai Prakash; Sudhakar, P; Mummidi, Bhaskar; Reddy, K V Baburam; Rao, C H Hanumantha; Raju, B H V Rama Krishnam

2013-03-01

The present case report describes the importance of interdisciplinary approach and gives an understanding on management of an adolescent with unilateral cleft lip and palate. Failure of fusion between medial nasal process and maxillary process or between the palatal process leads to the formation of clefts. Clefts are result of genetic or environmental factors or a combination of both. Common dental problems associated with clefts includes anterior and posterior crossbites, hypodontia, malformation and abnormal eruption pattern. A girl, aged 15 years reported with a chief complaint of unesthetic appearance of her maxillary anterior teeth. She had unilateral cleft lip and palate and had received cheiloplasty and palatoplasty when she was in young age and rhinoplasty when she was 14 years of age. At pretreatment evaluation, she had concave profile with maxillary arch constriction and oroantral fistula and mesially tipped maxillary left canine. This patient's treatment was unconventional, but it was successful in significantly improving her masticatory function and smile, along with favorable dental and facial results. Generalized esthetics and function were significantly improved in this patient without orthognathic surgery, and treatment results were stable 3 years after the appliance removal. Clinical considerations, sequencing of treatment phases as shown in this case report can be utilized while treating an adolescent with cleft lip and palate. If the skeletal discrepancy is mild and esthetic concerns are minimal, dental compensation by orthodontic treatment alone might be recommended. The cephalometric analysis and prediction tracings provide further information for deciding whether a patient can be treated by orthodontics alone, or by orthodontics and an orthognathic surgical procedure. A change in axial inclination of the teeth can camouflage the skeletal relationship adequately. However, one should be cautious in a growing patient, because he or she might outgrow the dental correction so that ultimately skeletal surgery would be indicated.

First branchial cleft anomaly: clinical insight into its relevance in otolaryngology with pediatric considerations.

PubMed

Maithani, Tripti; Pandey, Apporva; Dey, Debraj; Bhardwaj, Aparna; Singh, V P

2014-01-01

First branchial cleft anomalies (FBCA) represent a small subset of congenital malformations in neck. Prime objective of this study is to share our experience with FBCA, emphasize its relevance in otolaryngology and deal with its pediatric perspective. Embryology, pathologic anatomy and varied spectra of clinical presentations of FBCA are discussed. Along with this we have illustrated three different cases; all of them were of pediatric age group and were misdiagnosed by their treating specialists elsewhere. In this article we have also laid special emphasis on its pediatric considerations. FBCA are mostly misdiagnosed due to their unfamiliar clinical signs and symptoms. Swellings may masquerade as other neck masses. Majority of patients give a history of previous incision and drainage. While dealing with pediatric patients the important factors to be kept in mind are the age of child, superficial course of facial nerve, any associated agenesis of parotid gland. Alteration in surgical technique may be required in children. A thorough medical examination with high index of clinical suspicion should be kept in mind while dealing with such anomalies. Owing to their complex presentation and close relation with facial nerve they are challenging lesions for surgeons.

Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?

PubMed

Toriello, Helga V; Lemire, Edmond G

2002-01-01

We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, cleft palate, microglossia and tongue hamartomata consistent with an oral-facial-digital syndrome (OFDS). The patient also had optic nerve colobomata, a Dandy-Walker malformation, micrognathia and apneic spells. This combination of clinical features has not been previously reported. This patient either expands the clinical features of one of the existing OFDS or represents a new variant. A review of the literature highlights the difficulties in making a specific diagnosis because of the different classification systems that exist in the literature.

A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome.

PubMed

Richieri-Costa, A; Colletto, G M; Gollop, T R; Masiero, D

1985-04-01

We describe two sibs born to a consanguineous couple. Among other clinical findings both have mental retardation, short stature, facial and skeletal abnormalities characterized by hypertelorism, broad notched nasal tip, cleft lip/palate, campto-brachy-poly-syndactyly, fibular hypoplasia, and marked anomalies of foot structures. Facial signs of the reported patients resemble those present in the fronto-nasal "dysplasia" syndrome; however, the whole clinical picture in the present patients suggests a true MCA/MR syndrome, most likely inherited as an autosomal recessive trait. Clinical and genetic aspects of the present family are discussed.

Velo-Cardio-Facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

DOE Office of Scientific and Technical Information (OSTI.GOV)

Nickel, R.E.; Pillers, D.M.; Merkens, M.

Approximately 5% of children with neural tube defects (NTDs) have a congenital heart defect and/or cleft lip and palate. The cause of isolated meningomyelocele, congenital heart defects, or cleft lip and palate has been largely thought to be multifactorial. However, chromosomal, teratogenic, and single gene causes of combinations of NTDs with congenital heart defects and/or cleft lip and palate have been reported. We report on 3 patients with meningomyelocele, congenital heart defects, and 22q11 deletions. Two of the children had the clinical diagnosis of velo-cardio-facial syndrome (VCFS); both have bifid uvula. The third child had DiGeorge sequence (DGS). The associationmore » of NTDs with 22q11 deletion has not been reported previously. An accurate diagnosis of the 22q11 deletion is critical as this micro-deletion and its associated clinical problems is transmitted as an autosomal dominant trait due to the inheritance of the deletion-bearing chromosome. We recommend that all children with NTDs and congenital heart defects, with or without cleft palate, have cytogenetic and molecular studies performed to detect 22q11 deletions. 31 refs., 3 figs.« less

Influence of Objective Three-Dimensional Measures and Movement Images on Surgeon Treatment Planning for Lip Revision Surgery

PubMed Central

Trotman, Carroll-Ann; Phillips, Ceib; Faraway, Julian J.; Hartman, Terry; van Aalst, John A.

2013-01-01

Objective To determine whether a systematic evaluation of facial soft tissues of patients with cleft lip and palate, using facial video images and objective three-dimensional measurements of movement, change surgeons’ treatment plans for lip revision surgery. Design Prospective longitudinal study. Setting The University of North Carolina School of Dentistry. Patients, Participants A group of patients with repaired cleft lip and palate (n = 21), a noncleft control group (n = 37), and surgeons experienced in cleft care. Interventions Lip revision. Main Outcome Measures (1) facial photographic images; (2) facial video images during animations; (3) objective three-dimensional measurements of upper lip movement based on z scores; and (4) objective dynamic and visual three-dimensional measurement of facial soft tissue movement. Results With the use of the video images plus objective three-dimensional measures, changes were made to the problem list of the surgical treatment plan for 86% of the patients (95% confidence interval, 0.64 to 0.97) and the surgical goals for 71% of the patients (95% confidence interval, 0.48 to 0.89). The surgeon group varied in the percentage of patients for whom the problem list was modified, ranging from 24% (95% confidence interval, 8% to 47%) to 48% (95% confidence interval, 26% to 70%) of patients, and the percentage for whom the surgical goals were modified, ranging from 14% (94% confidence interval, 3% to 36%) to 48% (95% confidence interval, 26% to 70%) of patients. Conclusions For all surgeons, the additional assessment components of the systematic valuation resulted in a change in clinical decision making for some patients. PMID:23855676

IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in south Indian population.

PubMed

Gurramkonda, Venkatesh Babu; Syed, Altaf Hussain; Murthy, Jyotsna; Lakkakula, Bhaskar V K S

2017-06-26

Transcription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development. We aimed to investigate the association of IRF6 intron-6 polymorphism in the non-syndromic cleft lip with or without Palate in a south Indian population. 173 unrelated nonsyndromic cleft lip with or without Palate patients and 176 controls without clefts patients were genotyped for IRF6 rs2235375 variant by allele-specific amplification using the KASPar single nucleotide polymorphism genotyping system. The association between interferon regulatory factor-6 gene intron-6 dbSNP208032210:g.G>C (rs2235375) single nucleotide polymorphism and non-syndromic cleft lip with or without palate risk was investigated by chi-square test. There were significant differences in genotype or allele frequencies of rs2235375 single nucleotide polymorphism between controls and cases with non-syndromic cleft lip with or without palate. IRF6 rs2235375 variant was significantly associated with increased risk of non-syndromic cleft lip with or without palate in co-dominant, dominant (OR: 1.19; 95% CI 1.03-2.51; p=0.034) and allelic models (OR: 1.40; 95% CI 1.04-1.90; p=0.028). When subset analysis was applied significantly increased risk was observed in cleft palate only group (OR dominant: 4.33; 95% CI 1.44-12.97; p=0.005). These results suggest that IRF6 rs2235375 SNP play a major role in the pathogenesis and risk of developing non-syndromic cleft lip with or without palate. Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

A Comparative Analysis of Recombinant Human Bone Morphogenetic Protein-2 with a Demineralized Bone Matrix versus Iliac Crest Bone Graft for Secondary Alveolar Bone Grafts in Patients with Cleft Lip and Palate: Review of 501 Cases.

PubMed

Hammoudeh, Jeffrey A; Fahradyan, Artur; Gould, Daniel J; Liang, Fan; Imahiyerobo, Thomas; Urbinelli, Leo; Nguyen, JoAnna T; Magee, William; Yen, Stephen; Urata, Mark M

2017-08-01

Alveolar cleft reconstruction using iliac crest bone graft is considered standard of care for children with complete cleft lip and palate at the time of mixed dentition. Harvesting bone may result in donor-site morbidity and additional operating time and length of hospitalization. Recombinant human bone morphogenetic protein (rhBMP)-2 with a demineralized bone matrix is an alternative bone source for alveolar cleft reconstruction. The authors investigated the outcomes of rhBMP-2/demineralized bone matrix versus iliac crest bone graft for alveolar cleft reconstruction by reviewing postoperative surgical complications and cleft closure. A retrospective chart review was conducted for 258 rhBMP-2/demineralized bone matrix procedures (mean follow-up, 2.9 years) and 243 iliac crest bone graft procedures (mean follow-up, 4.1 years) on 414 patients over a 12-year period. The authors compared complications, canine eruption, and alveolar cleft closure between the two groups. In the rhBMP-2/demineralized bone matrix group, one patient required prolonged intubation because of intraoperative airway swelling not thought to be caused by rhBMP-2, 36 reported facial swelling and one required outpatient steroids as treatment, and 12 had dehiscence; however, half of these complications resolved without intervention. Twenty-three of the 228 rhBMP-2/demineralized bone matrix patients and 28 of the 242 iliac crest bone graft patients required repeated surgery for alveolar cleft repair. Findings for canine tooth eruption into the cleft site through the graft were similar between the groups. The rhBMP-2/demineralized bone matrix appears to be an acceptable alternative for alveolar cleft repair. The authors found no increase in serious adverse events with the use of this material. Local complications, such as swelling and minor wound dehiscence, predominantly improved without intervention. Therapeutic, III.

The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2

USDA-ARS?s Scientific Manuscript database

talpid2 is an avian autosomal recessive mutant with a myriad of congenital malformations, including polydactyly and facial clefting. Although phenotypically similar to talpid3, talpid2 has a distinct facial phenotype and an unknown cellular, molecular and genetic basis. We set out to determine the e...

Oral strength in subjects with a unilateral cleft lip and palate.

PubMed

Van Lierde, Kristiane M; Bettens, Kim; Luyten, Anke; Plettinck, Janne; Bonte, Katrien; Vermeersch, Hubert; Roche, Nathalie

2014-08-01

Facial appearance and speech outcome may affect psychosocial functioning in girls and boys. Several studies reported dissatisfaction with facial appearance and more specifically the lip and mouth profile in children with cleft lip and palate (CLP). The purpose of this controlled study was to measure the tongue and lip strength and endurance in boys and girls with CLP. Twenty-five subjects (mean age: 10.6 years) with a unilateral CLP and a gender- and age- matched control group were selected. All subjects with an unilateral CLP consulted the same craniofacial team and had undergone an identical surgical procedure. Surgical procedure of the lip was performed using a modified Millard technique without primary nose correction at an average age of 5.5 months. The Iowa Oral Performance instrument was used to measure lip and tongue strength and tongue endurance. The results of the Iowa Oral Performance measurement showed no significant differences between the subjects with an unilateral cleft lip and palate and the age and gender matched control group without a cleft lip and palate. There is no significant differences regarding oral strength more specifically the lip and tongue strength and endurance between subjects with and without an unilateral cleft lip and palate. ENT specialists and speech pathologists must be aware of this aspect of the normal lip and tongue functions. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Maxillofacial growth and speech outcome after one-stage or two-stage palatoplasty in unilateral cleft lip and palate. A systematic review.

PubMed

Reddy, Rajgopal R; Gosla Reddy, Srinivas; Vaidhyanathan, Anitha; Bergé, Stefaan J; Kuijpers-Jagtman, Anne Marie

2017-06-01

The number of surgical procedures to repair a cleft palate may play a role in the outcome for maxillofacial growth and speech. The aim of this systematic review was to investigate the relationship between the number of surgical procedures performed to repair the cleft palate and maxillofacial growth, speech and fistula formation in non-syndromic patients with unilateral cleft lip and palate. An electronic search was performed in PubMed/old MEDLINE, the Cochrane Library, EMBASE, Scopus and CINAHL databases for publications between 1960 and December 2015. Publications before 1950-journals of plastic and maxillofacial surgery-were hand searched. Additional hand searches were performed on studies mentioned in the reference lists of relevant articles. Search terms included unilateral, cleft lip and/or palate and palatoplasty. Two reviewers assessed eligibility for inclusion, extracted data, applied quality indicators and graded level of evidence. Twenty-six studies met the inclusion criteria. All were retrospective and non-randomized comparisons of one- and two-stage palatoplasty. The methodological quality of most of the studies was graded moderate to low. The outcomes concerned the comparison of one- and two-stage palatoplasty with respect to growth of the mandible, maxilla and cranial base, and speech and fistula formation. Due to the lack of high-quality studies there is no conclusive evidence of a relationship between one- or two-stage palatoplasty and facial growth, speech and fistula formation in patients with unilateral cleft lip and palate. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature.

PubMed

Cayir, A; Tasdemir, S; Eroz, R; Yuce, I; Orbak, Z; Tatar, A

2013-01-01

We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal atresia, a sunken facial appearance, microphthalmia in the right eye, severe microphthalmia in the left eye, bilateral low-set ears, scarring from cleft palate surgery. Magnetic resonance imaging (MRI) sections revealed decreased right globe volume, an undeveloped left globe, decreased left optical nerve thickness, Chiari type 2 malformation, left choanal atresia and cleft palate. Echocardiography and abdominal ultrasonography were normal. The patient has a 45 dB conductive hearing loss in the left ear. Repeated thyroid function tests were evaluated as compatible with central hypothyroidism. We report a Fryns Anophthalmia-Plus Syndrome in a child with unusual findings including central hypothyroidism, chiari type 2 malformation, conductive hearing loss and developmental regression. Summary of the features reported in the present case and all 14 previous cases that might be defined as APS.

Short mandible - a possible risk factor for cleft palate with/without a cleft lip.

PubMed

Hermann, N V; Darvann, T A; Ersbøll, B K; Kreiborg, S

2014-05-01

To estimate the influence of a short mandible on the risk of developing a cleft palate with/without a cleft lip (CP). The retrospective sample consisted of 115 2-month-old Danish infants with CP, and 70 control infants with unilateral incomplete cleft lip (UICL). Cephalometric X-rays were obtained. Mandibular length (Lm ) was measured and corrected for body length (Lb ) to remove influence of varying body length in the sample. Logistic regression was applied to the corrected mandibular length (Lmc ) to calculate the risk of having a cleft palate. The mean mandibular length in the group with CP was about 4 mm shorter than in the control group. Odds ratio (OR) was calculated to be 0.58 (95% confidence interval 0.48-0.68), implying that an individual's risk of cleft palate with/without a cleft lip increases about 50% per mm decrease in mandibular length. A special facial type including a short mandible is a possible risk factor for cleft palate, and it was found that the risk of cleft palate increases 58% per mm decreases in mandibular length. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Maxillary growth in a congenital cleft palate canine model for surgical research.

PubMed

Paradas-Lara, Irene; Casado-Gómez, Inmaculada; Martín, Conchita; Martínez-Sanz, Elena; López-Gordillo, Yamila; González, Pablo; Rodríguez-Bobada, Cruz; Chamorro, Manuel; Arias, Pablo; Maldonado, Estela; Ortega, Ricardo; Berenguer, Beatriz; Martínez-Álvarez, Concepción

2014-01-01

We have recently presented the Old Spanish Pointer dog, with a 15-20% spontaneous congenital cleft palate rate, as a unique experimental model of this disease. This study aimed to describe the cleft palate of these dogs for surgical research purposes and to determine whether congenital cleft palate influences maxillofacial growth. Seven newborn Old Spanish Pointer dogs of both sexes, comprising a cleft palate group (n = 4) and a normal palate group (n = 3), were fed using the same technique. Macroscopic photographs and plaster casts from the palate, lateral radiographs and computer tomograms of the skull were taken sequentially over 41 weeks, starting at week 5. The cleft morphology, the size and the tissue characteristics in these dogs resembled the human cleft better than current available animal models. During growth, the cleft width varies. Most of the transverse and longitudinal measures of the palate were statistically lower in the cleft palate group. The cleft palate group showed hypoplasia of the naso-maxillary complex. This model of congenital cleft palate seems suitable for surgical research purposes. A reduced maxillofacial pre- and post-natal development is associated to the congenital cleft palate in the Old Spanish Pointer dog. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Neighborhood Deprivation and Risk of Congenital Heart Defects, Neural Tube Defects and Orofacial Clefts: A Systematic Review and Meta-Analysis

PubMed Central

Deguen, Séverine; Kihal, Wahida; Jeanjean, Maxime; Padilla, Cindy; Zmirou-Navier, Denis

2016-01-01

Background We conducted this systematic review and meta-analysis to address the open question of a possible association between the socioeconomic level of the neighborhoods in which pregnant women live and the risk of Congenital Heart Defects (CHDs), Neural Tube Defects (NTDs) and OroFacial Clefts (OFCs). Methods We searched MEDLINE from its inception to December 20th, 2015 for case-control, cohort and ecological studies assessing the association between neighborhood socioeconomic level and the risk of CHDs, NTDs and the specific phenotypes Cleft Lip with or without Cleft Palate (CLP) and Cleft Palate (CP). Study-specific risk estimates were pooled according to random-effect and fixed-effect models. Results Out of 245 references, a total of seven case-control studies, two cohort studies and two ecological studies were assessed in the systematic review; all studies were enrolled in the meta-analysis with the exception of the two cohort studies. No significant association has been revealed between CHDs or NTDs and neighborhood deprivation index. For CLP phenotype subgroups, we found a significantly higher rate in deprived neighborhoods (Odds Ratios (OR) = 1.22, 95% CI: 1.10, 1.36) whereas this was not significant for CP phenotype subgroups (OR = 1.20, 95%CI: 0.89, 1.61). Conclusion In spite of the small number of epidemiological studies included in the present literature review, our findings suggest that neighborhood socioeconomic level where mothers live is associated only with an increased risk of CLP phenotype subgroups. This finding has methodological limitations that impede the formulation of firm conclusions, and further investigations should confirm this association. PMID:27783616

Birth defects observed with maternal carbimazole treatment: Six cases reported to Nice's Pharmacovigilance Center.

PubMed

Koenig, D; Spreux, A; Hiéronimus, S; Chichmanian, R-M; Bastiani, F; Fénichel, Patrick; Brucker-Davis, F

2010-12-01

To report cases of embryopathy occurring following first trimester exposure to anti-thyroid drugs. Retrospective screening of the database of our Pharmacovigilance Center from 1987 to date. We report six cases of embryopathy, all following carbimazole exposure during the first trimester: two cases of abdominal wall defect, including one associated with facial dysmorphia; one case of digestive malformation (patent omphalomesenteric duct); two cases of aplasia cutis including one with facial dysmorphism; one case of bilateral choanal atresia with aorta coarctation associated with poorly controlled insulin dependent diabetes. Four out of five patients were euthyroid with treatment during the first trimester. We found a context suggesting genetic predisposition to congenital malformation in three cases: two cases of parental cleft lip/palate, one case of consanguinity. Outcome was favorable in all cases. We want to raise awareness about the potential teratogenicity of carbimazole, probably on a predisposed genetic background. We suggest better reporting of congenital anomalies in children of women with Graves'disease, with or without in utero exposure to anti-thyroid drugs. In light of current literature, propylthiouracil should be the first line treatment for hyperthyroid women wishing a pregnancy. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

Duplication of the External Auditory Canal: Two Cases and a Review of the Literature

PubMed Central

Goudakos, John K.; Blioskas, Sarantis; Psillas, George; Vital, Victor; Markou, Konstantinos

2012-01-01

The objective of the present paper is to describe the clinical presentation, diagnostic process, surgical treatment, and outcome of 2 patients with first branchial cleft anomaly. The first case was an 8-year-old girl presented with an elastic lesion located in the left infra-auricular area, in close relation with the lobule, duplicating the external auditory canal. The magnetic resonance imaging revealed a lesion, appearing as a rather well-circumscribed mass within the left parotid gland and duplicating the ear canal. A superficial parotidectomy was subsequently performed, with total excision of the cyst. The second patient was a 15-year-old girl presented with a congenital fistula of the right lateral neck. At superficial parotidectomy, a total excision of the fistula was performed. During the operation the tract was recorded to lay between the branches of the facial nerve, extending with a blind ending canal parallel to the external acoustic meatus. Conclusively, first branchial cleft anomalies are rare malformations with cervical, parotid, or auricular clinical manifestations. Diagnosis of first branchial cleft lesions is achieved mainly through careful physical examination. Complete surgical excision with wide exposure of the lesion is essential in order to achieve permanent cure and avoid recurrence. PMID:23213587

Current concepts in cleft care: A multicenter analysis.

PubMed

Thiele, Oliver C; Kreppel, Matthias; Dunsche, Anton; Eckardt, Andre M; Ehrenfeld, Michael; Fleiner, Bernd; Gaßling, Volker; Gehrke, Gerd; Gerressen, Marcus; Gosau, Martin; Gröbe, Alexander; Haßfeld, Stefan; Heiland, Max; Hoffmeister, Bodo; Hölzle, Frank; Klein, Cornelius; Krüger, Maximilian; Kübler, Alexander C; Kübler, Norbert R; Kuttenberger, Johannes J; Landes, Constantin; Lauer, Günter; Martini, Markus; Merholz, Erich T; Mischkowski, Robert A; Al-Nawas, Bilal; Nkenke, Emeka; Piesold, Jörn U; Pradel, Winnie; Rasse, Michael; Rachwalski, Martin; Reich, Rudolf H; Rothamel, Daniel; Rustemeyer, Jan; Scheer, Martin; Schliephake, Henning; Schmelzeisen, Rainer; Schramm, Alexander; Schupp, Wiebke; Spitzer, Wolfgang J; Stocker, Erwin; Stoll, Christian; Terheyden, Hendrik; Voigt, Alexander; Wagner, Wilfried; Weingart, Dieter; Werkmeister, Richard; Wiltfang, Jörg; Ziegler, Christoph M; Zöller, Joachim E

2018-04-01

The current surgical techniques used in cleft repair are well established, but different centers use different approaches. To determine the best treatment for patients, a multi-center comparative study is required. In this study, we surveyed all craniofacial departments registered with the German Society of Maxillofacial Surgery to determine which cleft repair techniques are currently in use. Our findings revealed much variation in cleft repair between different centers. Although most centers did use a two-stage approach, the operative techniques and timing of lip and palate closure were different in every center. This shows that a retrospective comparative analysis of patient outcome between the participating centers is not possible and illustrates the need for prospective comparative studies to establish the optimal technique for reconstructive cleft surgery. Copyright © 2018 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Orthognathic surgery in the young cleft patient: preliminary study on subsequent facial growth.

PubMed

Wolford, Larry M; Cassano, Daniel Serra; Cottrell, David A; El Deeb, Mohamed; Karras, Spiro C; Goncalves, Joao Roberto

2008-12-01

This study evaluated the long-term effects of orthognathic surgery on subsequent growth of the maxillomandibular complex in the young cleft patient. We evaluated 12 young cleft patients (9 male and 3 female patients), with a mean age of 12 years 6 months (range, 9 years 8 months to 15 years 4 months), who underwent Le Fort I osteotomies, with maxillary advancement, expansion, and/or downgrafting, by use of autogenous bone or hydroxyapatite grafts, when indicated, for maxillary stabilization. Five patients had concomitant osteotomies of the mandibular ramus. All patients had presurgical and postsurgical orthodontic treatment to control the occlusion. Radiographs taken at initial evaluation (T1) and presurgery (T2) were compared to establish the facial growth vector before surgery, whereas radiographs taken immediately postsurgery (T3) and at longest follow-up (T4) were used to determine postsurgical growth. Each patient's lateral cephalograms were traced, and 16 landmarks were identified and used to compute 11 measurements describing presurgical and postsurgical growth. Before surgery, all patients had relatively normal growth. After surgery, cephalograms showed statistically significant growth changes from T3 to T4, with the maxillary depth decreasing by -3.3 degrees +/- 1.8 degrees , Sella-nasion-point A by -3.3 degrees +/- 1.8 degrees, and point A-nasion-point B by -3.6 degrees +/- 2.8 degrees. The angulation of the maxillary incisors increased by 9.2 degrees +/- 11.7 degrees. Of 12 patients, 11 showed disproportionate postsurgical jaw growth. Maxillary growth occurred predominantly in a vertical vector with no anteroposterior growth, even though most patients had shown anteroposterior growth before surgery. The distance increased in the linear measurement from nasion to gnathion by 10.3 +/- 7.9 mm. Four of 5 patients operated on during the mixed dentition phase had teeth that erupted through the cleft area. A variable impairment of postoperative growth was seen with the 2 types of grafting material used. No significant difference was noted in the effect on growth in patients with unilateral clefts versus those with bilateral clefts. The presence of a pharyngeal flap was noted to adversely affect growth, whereas simultaneous mandibular surgery did not. After surgery, 11 of 12 patients tended toward a Class III end-on occlusal relation. Orthognathic surgery may be performed on growing cleft patients when mandated by psychological and/or functional concerns. The surgeon must be cognizant of the adverse postsurgical growth outcomes when performing orthognathic surgery on growing cleft patients with the possibility for further surgery requirements. Performing maxillary osteotomies on cleft patients would be more predictable after completion of facial growth.

3-D shape analysis of palatal surface in patients with unilateral complete cleft lip and palate.

PubMed

Rusková, Hana; Bejdová, Sárka; Peterka, Miroslav; Krajíček, Václav; Velemínská, Jana

2014-07-01

Facial development of patients with unilateral complete cleft lip and palate (UCLP) is associated with many problems including deformity of the palate. The aim of this study was to evaluate palatal morphology and variability in patients with UCLP compared with Czech norms using methods of geometric morphometrics. The study was based on virtual dental cast analysis of 29 UCLP patients and 29 control individuals at the age of 15 years. The variability of palatal shape in UCLP patients was greater than that in nonclefted palates. Only 24% of clefted palates fell within the variability of controls. The palatal form of UCLP patients (range from 11.8 to 17.2 years) was not correlated with age. Compared with control palates, palates of UCLP patients were narrower, more anteriorly than posteriorly. Apart from the praemaxilla region, they were also shallower, and the difference increased posteriorly. The UCLP palate was characterised by the asymmetry of its vault. The maximum height of the palatal vault was anterior on the clefted side, whereas it was posterior on the nonclefted side. The slope of the UCLP palate was more inclined compared with the control group. The praemaxilla was therefore situated more inferiorly. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Tessier No. 3 and No. 4 clefts: Sequential treatment in infancy by pre-surgical orthopedic skeletal contraction, comprehensive reconstruction, and novel surgical lengthening of the ala base-canthal distance.

PubMed

Spolyar, John L; Hnatiuk, Mark; Shaheen, Kenneth W; Mertz, Jennifer K; Handler, Lawrence F; Jarial, Ravinder; Roldán, J Camilo

2015-09-01

Repair of facial clefts implies wide tissue mobilization with multi-stage surgical treatment. Authors propose pre-surgical orthopedic correction for naso-oro-ocular clefts and a novel surgical option for Tessier No. 3 cleft. Two male infants, a Tessier No. 3 cleft (age 7 months) and another Tessier No. 4 (age 3 months), were treated with a modified orthopedic Latham device with additional septo-premaxillary molding and observed to age four years. Tessier No. 3 orthopedic measurements were obtained by image corrected cephalometric analysis. Subsequent repair included tissue expansion on Tessier No. 4 and naso-frontal Rieger flap combined with myocutaneous upper lid flap on Tessier No. 3. Orthopedic movements ranged from 18.5 mm in bi-planar to 33 mm in oblique analyses. Tissue margins became aligned with platform normalization. Tissue expansion on Tessier No. 4 improved distances from ala base-lower lid and subalar base-lip. The naso-frontal flap combined with myocutaneous upper lid flap on Tessier No. 3 had similar achievement, but also sufficiently lengthened ala base-canthal distance. Repairs were facilitated by pre-surgical orthopedic correction. The naso-frontal flap combined with an upper lid myocutaneous flap seems viable as a single-stage option to lengthen ala base-canthal distance to advance repair achievement in unilateral Tessier No. 3. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Arrangement of the orbicularis oris muscle in different types of cleft lips.

PubMed

Wijayaweera, C J; Amaratunga, N A; Angunawela, P

2000-05-01

A thorough knowledge of the anatomy of the labial region, especially the arrangement of the muscle fibers, is essential for the success of primary repair of the cleft lip. Pared lateral and medial edges from 20 unilateral incomplete cleft lips and 25 unilateral complete cleft lips were obtained during primary surgery. Three specimens of normal lips were taken from unclaimed infant cadavers as the controls. They were prepared for routine histological studies and were examined to study the direction of muscle fibers. Intrinsic and extrinsic bundles were identified in both lateral and medial sides of specimens of both cleft types. The intrinsic bundle was not displaced but was interrupted by the cleft. The extrinsic bundle in the lateral side of both cleft types ran upward along the lateral cleft margin, whereas in the medial side it ran horizontally to terminate close to the medial cleft margin. The extrinsic bundle is the retractor, which is associated with facial expression, whereas the intrinsic bundle is the constrictor of the mouth. Because there are two functional components in the orbicularis oris muscle, identifying and repairing them separately will enable each of them to accomplish their distinctive functions.

Partial craniofacial duplication: a review of the literature and case report.

PubMed

Costa, Melinda A; Borzabadi-Farahani, Ali; Lara-Sanchez, Pedro A; Schweitzer, Daniela; Jacobson, Lia; Clarke, Noreen; Hammoudeh, Jeffery; Urata, Mark M; Magee, William P

2014-06-01

Diprosopus (Greek; di-, "two" + prosopon, "face"), or craniofacial duplication, is a rare craniofacial anomaly referring to the complete duplication of facial structures. Partial craniofacial duplication describes a broad spectrum of congenital anomalies, including duplications of the oral cavity. This paper describes a 15 month-old female with a duplicated oral cavity, mandible, and maxilla. A Tessier type 7 cleft, midline meningocele, and duplicated hypophysis were also present. The preoperative evaluation, surgical approach, postoperative results, and a review of the literature are presented. The surgical approach was designed to preserve facial nerve innervation to the reconstructed cheek and mouth. The duplicated mandible and maxilla were excised and the remaining left maxilla was bone grafted. Soft tissue repair included closure of the Tessier type VII cleft. Craniofacial duplication remains a rare entity that is more common in females. The pathophysiology remains incompletely characterized, but is postulated to be due to duplication of the notochord, as well as duplication of mandibular growth centres. While diprosopus is a severe deformity often associated with anencephaly, patients with partial duplication typically benefit from surgical treatment. Managing craniofacial duplication requires a detailed preoperative evaluation as well as a comprehensive, staged treatment plan. Long-term follow up is needed appropriately to address ongoing craniofacial deformity. Published by Elsevier Ltd.

Epithelial and ectomesenchymal role of the type I TGF-β receptor ALK5 during facial morphogenesis and palatal fusion

PubMed Central

Dudas, Marek; Kim, Jieun; Li, Wai-Yee; Nagy, Andre; Larsson, Jonas; Karlsson, Stefan; Chai, Yang; Kaartinen, Vesa

2006-01-01

Transforming growth factor beta (TGF-β) proteins play important roles in morphogenesis of many craniofacial tissues; however, detailed biological mechanisms of TGF-β action, particularly in vivo, are still poorly understood. Here, we deleted the TGF-β type I receptor gene Alk5 specifically in the embryonic ectodermal and neural crest cell lineages. Failure in signaling via this receptor, either in the epithelium or in the mesenchyme, caused severe craniofacial defects including cleft palate. Moreover, the facial phenotypes of neural crest-specific Alk5 mutants included devastating facial cleft and appeared significantly more severe than the defects seen in corresponding mutants lacking the TGF-β type II receptor (TGFβRII), a prototypical binding partner of ALK5. Our data indicate that ALK5 plays unique, non-redundant cell-autonomous roles during facial development. Remarkable divergence between Tgfbr2 and Alk5 phenotypes, together with our biochemical in vitro data, imply that (1) ALK5 mediates signaling of a diverse set of ligands not limited to the three isoforms of TGF-β, and (2) ALK5 acts also in conjunction with type II receptors other than TGFβRII. PMID:16806156

Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function

PubMed Central

Seppala, Maisa; Xavier, Guilherme M.; Fan, Chen-Ming; Cobourne, Martyn T.

2014-01-01

ABSTRACT Holoprosencephaly is a heterogeneous developmental malformation of the central nervous system characterized by impaired forebrain cleavage, midline facial anomalies and wide phenotypic variation. Indeed, microforms represent the mildest manifestation, associated with facial anomalies but an intact central nervous system. In many cases, perturbations in sonic hedgehog signaling are responsible for holoprosencephaly. Here, we have elucidated the contribution of Gas1 and an additional hedgehog co-receptor, Boc during early development of the craniofacial midline, by generating single and compound mutant mice. Significantly, we find Boc has an essential role in the etiology of a unique form of lobar holoprosencephaly that only occurs in conjunction with combined loss of Gas1. Whilst Gas1−/− mice have microform holoprosencephaly characterized by a single median maxillary central incisor, cleft palate and pituitary anomalies, Boc−/− mice have a normal facial midline. However, Gas1−/−; Boc−/− mutants have lobar holoprosencephaly associated with clefting of the lip, palate and tongue, secondary to reduced sonic hedgehog transduction in the central nervous system and face. Moreover, maxillary incisor development is severely disrupted in these mice, arresting prior to cellular differentiation as a result of apoptosis in the odontogenic epithelium. Thus, Boc and Gas1 retain an essential function in these tooth germs, independent of their role in midline development of the central nervous system and face. Collectively, this phenotype demonstrates both redundancy and individual requirements for Gas1 and Boc during sonic hedgehog transduction in the craniofacial midline and suggests BOC as a potential digenic locus for lobar holoprosencephaly in human populations. PMID:25063195

Dental treatment in Anglo-Saxon England.

PubMed

Anderson, T

2004-09-11

Anglo-Saxon medical literature suggests that care of the teeth was largely limited to non-invasive treatment. Cures, mainly for toothache, were based on herbal remedies, charms and amulets. Herbal potions also treated oral problems as diverse as caries and facial deformities. However, surgical intervention for cleft lip is mentioned in the later documents. Skeletal evidence confirms that cleft lip and palate was definitely known to the Anglo-Saxons. A possible dentist's grave has been identified.

Judgment of Nasolabial Esthetics in Cleft Lip and Palate Is Not Influenced by Overall Facial Attractiveness.

PubMed

Kocher, Katharina; Kowalski, Piotr; Kolokitha, Olga-Elpis; Katsaros, Christos; Fudalej, Piotr S

2016-05-01

To determine whether judgment of nasolabial esthetics in cleft lip and palate (CLP) is influenced by overall facial attractiveness. Experimental study. University of Bern, Switzerland. Seventy-two fused images (36 of boys, 36 of girls) were constructed. Each image comprised (1) the nasolabial region of a treated child with complete unilateral CLP (UCLP) and (2) the external facial features, i.e., the face with masked nasolabial region, of a noncleft child. Photographs of the nasolabial region of six boys and six girls with UCLP representing a wide range of esthetic outcomes, i.e., from very good to very poor appearance, were randomly chosen from a sample of 60 consecutively treated patients in whom nasolabial esthetics had been rated in a previous study. Photographs of external facial features of six boys and six girls without UCLP with various esthetics were randomly selected from patients' files. Eight lay raters evaluated the fused images using a 100-mm visual analogue scale. Method reliability was assessed by reevaluation of fused images after >1 month. A regression model was used to analyze which elements of facial esthetics influenced the perception of nasolabial appearance. Method reliability was good. A regression analysis demonstrated that only the appearance of the nasolabial area affected the esthetic scores of fused images (coefficient = -11.44; P < .001; R(2) = 0.464). The appearance of the external facial features did not influence perceptions of fused images. Cropping facial images for assessment of nasolabial appearance in CLP seems unnecessary. Instead, esthetic evaluation can be performed on images of full faces.

Structural outcomes in the Cleft Care UK study. Part 2: dento-facial outcomes

PubMed Central

Al-Ghatam, R; Jones, T E M; Ireland, A J; Atack, N E; Chawla, O; Deacon, S; Albery, L; Cobb, A R M; Cadogan, J; Leary, S; Waylen, A; Wills, A K; Richard, B; Bella, H; Ness, A R; Sandy, J R

2015-01-01

Structured Abstract Objectives To compare facial appearance and dento-alveolar relationship outcomes from the CSAG (1998) and CCUK (2013) studies. Setting and sample population Five-year-olds born with non-syndromic unilateral cleft lip and palate. Those in the original CSAG were treated in a dispersed model of care with low-volume operators. Those in CCUK were treated in a more centralized, high-volume operator model. Materials and methods We compared facial appearance using frontal view photographs (252 CCUK, 239 CSAG) and dental relationships using study models (198 CCUK, 223 CSAG). Facial appearance was scored by a panel of six assessors using a standardized and validated outcome tool. Dento-alveolar relationships were scored by two assessors using the 5-Year-Olds’ Index. Ordinal regression was used to compare results between surveys. Results Excellent or good facial appearance was seen in 36.2% of CCUK compared with 31.9% in CSAG. In CCUK, 21.6% were rated as having poor or very poor facial appearance compared with 27.6% in CSAG. The percentage rated as having excellent or good dento-alveolar relationships was 53.0% in CCUK compared with 29.6% in CSAG. In CCUK, 19.2% were rated as having poor or very poor dento-alveolar relationships compared to 36.3% in CSAG. The odds ratios for improved outcome in CCUK compared to CSAG were 1.43 (95% CI 1.03, 1.97) for facial appearance and 2.29 (95% CI 1.47, 3.55) for dento-alveolar relationships. Conclusions Facial and dento-alveolar outcomes were better in CCUK children compared to those in CSAG. PMID:26567852

[Self-esteem in adolescents with and without cleft-lip and/or palate].

PubMed

de Andrade, D; Angerami, E L

2001-01-01

Self-image is an important determinant of self-esteem among men and women, which makes us reflect about the process of rehabilitation of people with facial malformations. In order to measure self-esteem, the Janis and Field Scale was used. The sample consisted of 608 adolescents aged 17 to 20 years including males and females. Two hundred and thirty-five had a cleft lip and/or palate and 373 did not. The analysis of the self-esteem levels obtained enabled to conclude that the adolescents with a cleft lip and/or palate behave differently from those without it, that is, they present lower self-esteem scores.

Lower lip deformity in patients with cleft and non-cleft Class III malocclusion before and after orthognathic surgery.

PubMed

Park, Joo Seok; Koh, Kyung S; Choi, Jong Woo

2015-10-01

Orthognathic surgery does not yield the same cosmetic benefits in patients with Class III jaw deformities associated with clefts as for patients without clefts. Preoperative upper lip tightness caused by cleft lip repair may not fully explain this difference, suggesting that a lower lip deformity is present. The study compared the outcomes of orthognathic surgery in patients with cleft and non-cleft Class III malocclusion, focusing on lip relationship. The surgical records of 50 patients with Class III malocclusion, including 25 with and 25 without clefts, who had undergone orthognathic surgery, were retrospectively analyzed. Lateral cephalometric tracings, preoperatively and at 6 months postoperatively, were superimposed to analyze the soft tissue changes at seven reference points. At 6 months after surgery, there were no significant differences in skeletal location, whereas the soft tissues of the lower lip differed significantly between patients with and without cleft (p=0.002), indicating the persistence of a lower lip deformity in cleft patients. Moreover, the soft tissues of the lower lip receded in non-cleft patients and protruded in cleft patients after orthognathic surgery. Lower lip deformity and upper lip tightness may result in an unsatisfactory relationship between the upper and lower lips of patients with cleft-related jaw deformity after orthognathic surgery. Other factors were less important than the pathology of the lower lip. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Speech characteristics in a Ugandan child with a rare paramedian craniofacial cleft: a case report.

PubMed

Van Lierde, K M; Bettens, K; Luyten, A; De Ley, S; Tungotyo, M; Balumukad, D; Galiwango, G; Bauters, W; Vermeersch, H; Hodges, A

2013-03-01

The purpose of this study is to describe the speech characteristics in an English-speaking Ugandan boy of 4.5 years who has a rare paramedian craniofacial cleft (unilateral lip, alveolar, palatal, nasal and maxillary cleft, and associated hypertelorism). Closure of the lip together with the closure of the hard and soft palate (one-stage palatal closure) was performed at the age of 5 months. Objective as well as subjective speech assessment techniques were used. The speech samples were perceptually judged for articulation, intelligibility and nasality. The Nasometer was used for the objective measurement of the nasalance values. The most striking communication problems in this child with the rare craniofacial cleft are an incomplete phonetic inventory, a severely impaired speech intelligibility with the presence of very severe hypernasality, mild nasal emission, phonetic disorders (omission of several consonants, decreased intraoral pressure in explosives, insufficient frication of fricatives and the use of a middorsum palatal stop) and phonological disorders (deletion of initial and final consonants and consonant clusters). The increased objective nasalance values are in agreement with the presence of the audible nasality disorders. The results revealed that several phonetic and phonological articulation disorders together with a decreased speech intelligibility and resonance disorders are present in the child with a rare craniofacial cleft. To what extent a secondary surgery for velopharyngeal insufficiency, combined with speech therapy, will improve speech intelligibility, articulation and resonance characteristics is a subject for further research. The results of such analyses may ultimately serve as a starting point for specific surgical and logopedic treatment that addresses the specific needs of children with rare facial clefts. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Preoperative evaluation of micro-organisms in non-operated cleft in soft palate: impact on use of antibiotics.

PubMed

Roode, G J; Bütow, K-W; Naidoo, S

2017-02-01

To identify the pathogenic micro-organisms that had colonised preoperatively in clefts in the soft palate and oro-nasopharynx, we retrospectively studied the preoperative microbiological profiles of 200 infants who had had primary repair of all types of cleft in the soft palate. Data from a private practice that specialises in the repair of facial clefts were extracted randomly from patients' files. We analysed the results of the culture of preoperative swabs taken from clefts in the soft palate and oro-nasopharynx, and the resistance profile of organisms towards various antibiotics. A total of 23 different pathogenic micro-organisms were isolated from 115 (57%) of the sample. Klebsiella pneumoniae most commonly colonised clefts in the lip, alveolus, and palate. This was considerably higher than in other groups. The second most common micro-organism was Staphylococcus aureus, which was found most often in patients with isolated clefts in the hard palate. Those with complete cleft lip and palate presented with more pathogenic micro-organisms in preoperative cultures than those with other types of cleft. We need to find a way to control pathogenic micro-organisms in the oral and oro-nasopharyngeal region preoperatively to limit postoperative complications. Copyright © 2016 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Transantral distraction devices in correction of severe maxillary deformity in cleft patients.

PubMed

Shokirov, Shokhruh; Wangerin, Konrad

2011-01-01

Maxillary advancement by Le Fort I osteotomy in cleft patients has an average relapse of about 40-60 percent. With extraoral distraction devices it is possible to obtain an almost unlimited advancement of the upper jaw. Due to the social problems the retention period is normally reduced to some monthes. A relapse of 10-25 % can be seen in these cases. Le Fort I internal distraction osteogenesis offers an alternative to one-step orthognathic advancement, with advantages of gradual lengthening through scar and earlier treatment in growing patients. The objective of this study was to present our experience in the treatment of maxillary deficiency in cleft patients using transantral internal distraction devices. The distraction procedure was successfully accomplished in seventeen patients. For all the seventeen patients maxillary distraction device designed by Konrad Wangerin was used. The distraction distances were 8 to 24 mm. Preoperative, postoperative, and follow-up (12 and 24 months) lateral cephalogram measurements were compared including angular and linear changes. A good new bone was found that was formed in distraction pitch between lines of osteotomy. After distraction of median facial zone, occlusion and profile of soft tissues were considerably improved. All patients after postoperative time required final orthodontic treatment and their final occlusal relationships were satisfactory. The transantral distraction device is a new option for the treatment of severe maxillary hypoplasia in cleft patients.

Pitfalls and solutions in virtual design of nasoalveolar molding plates by using CAD/CAM technology--A preliminary clinical study.

PubMed

Ritschl, Lucas M; Rau, Andrea; Güll, Florian D; diBora, Benjamin; Wolff, Klaus-Dietrich; Schönberger, Markus; Bauer, Franz X; Wintermantel, Erich; Loeffelbein, Denys J

2016-04-01

Computer-assisted design and computer-aided manufacturing (CAD/CAM) technology in nasoalveolar molding (NAM) should save time and manpower and reduce family input in cases of cleft lip and palate. Intraoral casts from 12 infants with complete unilateral cleft lip and palate were taken immediately after birth (T1) and after (T2) NAM treatment, digitalized, and transformed into STL data. The infants were randomized into Group 1 (n = 6) receiving conventional NAM treatment or Group 2 receiving CAD/CAM NAM (n = 6). We analyzed the following variables by using Geomagic software: intersegmental alveolar distance (ISAD); intersegmental lip distance (ISLD); nostril height cleft/noncleft (NHc/nc); nasal width cleft/noncleft (NWn/nc); and columella deviation angle (CDA). In both groups, all variables except NHnc and NWnc were changed significantly between T1 and T2. The analysis of the mean differences of the variables in Group 1 and 2 showed no significant differences, with a comparable incidence of clinical alterations such as skin or mucosal irritations. NAM plates can be produced virtually by using CAD/CAM technology. The CAD/CAM NAM results show no significant differences from the conventional technique. We present our clinically usable virtual CAD/CAM workflow for producing a basic NAM plate. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Africa has unique and urgent barriers to cleft care: lessons from practitioners at the Pan-African Congress on Cleft Lip and Palate.

PubMed

Adetayo, Oluwaseun; Ford, Rachel; Martin, Mark

2012-01-01

The goals of this study were to delineate the protocols employed for managing patients with cleft lip and palate deformities, delineate the challenges facing practitioners and patients, and to determine the patient and physician barriers to cleft care delivery in the region. Survey questionnaires were administered to practitioners attending the second Pan-African Congress on Cleft Lip and Palate (PACCLIP), which took place in Ibadan, Nigeria, West Africa from February 4-7, 2007. The conference included 225 participants, representing 17 African countries Protocols for repair of cleft lip and palate deformities were varied, with Millard's and von Langenbeck's techniques being the preferred approach for the management of cleft lip and palate deformities, respectively. A large proportion of providers have limited access to core cleft care supporting teams, especially speech language pathologists, orthodontists, and audiologists. Several challenging barriers to cleft care were also identified at both the institutional and individual levels and are reported. Geographic separation in Africa presents a similar challenge due to isolationism as it does to surgeons in Europe. Specific to Africa are the increased barriers to care, and economic and financial hardship at various levels. A focus on funding, team building, infrastructural support, and patient education appear to be crucial in improving the care and lives of children with facial clefts in Africa.

Effects of pre-surgical nasoalveolar moulding on maxillary arch and nasal form in unilateral cleft lip and palate before lip surgery.

PubMed

Fuchigami, T; Kimura, N; Kibe, T; Tezuka, M; Amir, M S; Suga, H; Takemoto, Y; Hashiguchi, M; Maeda-Iino, A; Nakamura, N

2017-11-01

To investigate the effects of pre-surgical nasoalveolar moulding (PNAM) on the maxillary arch and nasal form in patients with unilateral cleft lip and palate (UCLP). This is a retrospective case series study. The subjects were infants with complete UCLP who were treated with PNAM (n = 18) at Kagoshima University Medical and Dental Hospital (Japan) between 2006 and 2013. Maxillary dental casts and facial photographs were taken at the time of the first visit and immediately prior to lip surgery to evaluate the maxillary arch and nasal form changes. The dental casts were scanned with a laser scanner, and changes in the 3-Dimensional coordinates of anatomical landmarks and alveolar cleft width were analysed. Moreover, we investigated the correlation between the changes in the maxillary alveolar arch and nasal form. Regarding the maxillary alveolar arch form, the anterior points of the major segment had moved significantly to the cleft side just prior to the time of lip repair, and the alveolar cleft width was significantly decreased. For nasal form, the inclination and displacement of the columella were significantly improved. The improvement of columella inclination was moderately correlated with the posterior movement of the anterior points of the major segment. These findings indicate that PNAM for infants with UCLP enhanced symmetry in the maxillary alveolar arch and nasolabial form. In addition, the posterior movement of the anterior points of the maxillary alveolar arch was correlated with the improvement of columella deformation. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Use of Multiple Operatories in Dental Care Delivery.

DTIC Science & Technology

1982-02-01

07212 Repair Traumatic Wounds, Complex Under 5cm 2.6 07213 Repair Traumatic Wounds, Complex Over 5cm 5.3 07260 Cleft Palate Repair 10.6 07265 Cleft Lip ...Facial Prosthesis 18.5 05940 Implants 16.8 05950 Maxillary Inclined Plane or Occlusal Table 19.4 05955 Mandibular Guide Flange 16.8 05960 Palatal Lift...Passive Lingual or Palatal Wire 1.2 08446 Face Bow, J Hooks, Clinical Cup 1.2 08447 Active Lingual or Palatal Wire 1.2 08448 Multi-Stranded Wire 0.6 08510

First branchial cleft anomaly.

PubMed Central

Al-Fallouji, M. A.; Butler, M. F.

1983-01-01

A 15-year-old girl presented with a cystic swelling since birth behind the ramus of the right mandible and diagnosed clinically as a dermoid cyst. Surgical exploration, however, showed that it was closely related to the external auditory canal, with an extension running medially behind the parotid gland and ending in the bony middle ear. The facial nerve was closely related to the deep part of the cyst. Such an anatomical position indicates that this was a first branchial cleft anomaly. Surgical excision of the cyst was performed. PMID:6622327

Phenotypic variability in Patau syndrome.

PubMed

Caba, Lavinia; Rusu, Cristina; Butnariu, Lacramioara; Panzaru, Monica; Braha, Elena; Volosciuc, M; Popescu, Roxana; Gramescu, Mihaela; Bujoran, C; Martiniuc, Violeta; Covic, M; Gorduza, E V

2013-01-01

Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly. Most frequent cytogenetic abnormality is free and homogeneous trisomy 13 (80.0%), rarely being detected trisomy mosaics or Robertsonian translocations. The objective of the study was to identify phenotypic features of trisomy 13. The retrospective study was conducted on a trial group of 14 cases diagnosed cytogenetically with trisomy 13 between January 2000 and December 2012 at lasi Medical Genetics Centre. Of the 14 cases, 3 were evaluated pathologically (two aborted foetuses and one stillborn), 8 cases were detected in the neonatal period, and 3 in infancy. Clinical diagnosis was supported by the identification of a model of abnormal development, mainly characterized by: maxillary cleft (lip and palate--5 cases; lip--1 case), ocular abnormalities (microphthalmia/anophthalmia--7 cases; cyclopia--1 case), postaxial polydactyly (7 cases), scalp defects (6 cases), congenital heart anomalies (10 cases, 6 patients with atrial septal defect), complete holoprosencephaly (4 cases), ear abnormalities (11 cases), broad nasal root (10 cases). An important issue in confirming the phenotypic variability of Patau syndrome is that the classic clinical triad was identified only in one case. Patau syndrome is a disease with variable expression and is characterized by a pattern of abnormal prenatal development characterized by facial dysmorphia, polydactyly and severe birth defects (heart, brain) that generate an increased in utero and perinatal mortality.

[Interdisciplinary orthodontic surgical treatment of children with cleft lip and palate from 9 to 20 years of age].

PubMed

Kuijpers-Jagtman, A M; Mink van der Molen, A B; Bierenbroodspot, F; Borstlap, W A

2015-11-01

Cleft lip and palate is a common congenital malformation with a prevalence of 1:600 newborns. Children with orofacial clefts are treated by an interdisciplinary team of specialists while parents and child play a key role in their own care process. The orthodontic and facial orthopedic treatment of a child with a cleft takes many years. Children often get bored of the long treatment and this can cause problems with compliance and oral hygiene. Therefore it is advisable to distinguish 5 well-defined stages in the orthodontic treatment and to attempt to have some 'orthodontics free' time in between. The 3 orthodontic treatment phases between the age of 9 and 20 years consist of orthodontic treatment concerning the closing of the cleft with a bone transplant, the treatment of the permanent dentition and, finally, a possible combined orthodontic surgical treatment at the end of the period of growth. Good interdisciplinary collaboration among the different dental disciplines is essential in this regard.

Cleft Palate Repair Using a Double Opposing Z-Plasty.

PubMed

Moores, Craig; Shah, Ajul; Steinbacher, Derek M

2016-07-01

Cleft palate is a common congenital defect with several described surgical repairs. The most successful treatment modality remains a controversy. The goals of repair focus on achievement of normal speech and optimizing velopharyngeal function while minimizing both fistula formation and facial growth restriction. In this video, the authors demonstrate use of the double opposing Z-plasty technique in the repair of a Veau II type cleft palate. The video demonstrates the marking, incisions, dissection, and repair of the cleft. It also examines the use of von Langenbeck-type relaxing incisions and demonstrates a specific approach to the repair of this particular cleft. The authors believe that the Furlow double opposing Z-plasty with the von Langenbeck relaxing incision can provide the best postoperative outcome by combining the benefits of each individual operation. The Z-plasty technique works to correct the aberrant muscle of the soft palate while increasing the length of the palate. The authors believe that this results in better velopharyngeal function.

Mechanisms of palatal epithelial seam disintegration by Transforming Growth Factor (TGF)-β3

PubMed Central

Ahmed, Shaheen; Liu, Chang-Chih; Nawshad, Ali

2007-01-01

TGFβ3 signaling initiates and completes sequential phases of cellular differentiation that is required for complete disintegration of the palatal medial edge seam, that progresses between 14 to 17 embryonic days in the murine system, which is necessary in establishing confluence of the palatal stroma. Understanding the cellular mechanism of palatal MES disintegration in response to TGFβ3 signaling will result in new approaches to defining the causes of cleft palate and other facial clefts that may result from failure of seam disintegration. We have isolated MES primary cells to study the details of MES disintegration mechanism by TGFβ3 during palate development using several biochemical and genetic approaches. Our results demonstrate a novel mechanism of MES disintegration where MES, independently yet sequentially, undergoes cell cycle arrest, cell migration and apoptosis to generate immaculate palatal confluency during palatogenesis in response to robust TGFβ3 signaling. The results contribute to a missing fundamental element to our base knowledge of the diverse roles of TGFβ3 in functional and morphological changes that MES undergo during palatal seam disintegration. We believe that our findings will lead to more effective treatment of facial clefting. PMID:17698055

Psychometric findings and normative values for the CLEFT-Q based on 2434 children and young adult patients with cleft lip and/or palate from 12 countries.

PubMed

Klassen, Anne F; Riff, Karen Wy Wong; Longmire, Natasha M; Albert, Asteria; Allen, Gregory C; Aydin, Mustafa Asim; Baker, Stephen B; Cano, Stefan J; Chan, Andrew J; Courtemanche, Douglas J; Dreise, Marieke M; Goldstein, Jesse A; Goodacre, Timothy E E; Harman, Karen E; Munill, Montserrat; Mahony, Aisling O; Aguilera, Mirta Palomares; Peterson, Petra; Pusic, Andrea L; Slator, Rona; Stiernman, Mia; Tsangaris, Elena; Tholpady, Sunil S; Vargas, Federico; Forrest, Christopher R

2018-04-16

Patients with cleft lip and/or palate can undergo numerous procedures to improve appearance, speech, dentition and hearing. We developed a cleft-specific patient-reported outcome instrument to facilitate rigorous international measurement and benchmarking. Data were collected from patients aged 8-29 years with cleft lip and/or palate at 30 hospitals in 12 countries between October 2014 and November 2016. Rasch measurement theory analysis was used to refine the scales and to examine reliability and validity. Normative CLEFT-Q values were computed for age, sex and cleft type. Analysis led to the refinement of an eating and drinking checklist and 12 scales measuring appearance (of the face, nose, nostrils, teeth, lips, jaws and cleft lip scar), health-related quality of life (psychological, social, school, speech distress) and speech function. All scales met the requirements of the Rasch model. Analysis to explore differential item functioning by age, sex and country provided evidence to support the use of a common scoring algorithm for each scale for international use. Lower (worse) scores on CLEFT-Q scales were associated with having a speech problem, being unhappy with facial appearance, and needing future cleft-related treatments, providing evidence of construct validity. Normative values for age, sex and cleft type showed poorer outcomes associated with older age, female sex and having a visible cleft. The CLEFT-Q represents a rigorously developed instrument that can be used internationally to collect and compare evidence-based outcomes data from patients aged 8-29 years of age with cleft lip and/or palate. © 2018 Joule Inc. or its licensors.

Psychometric findings and normative values for the CLEFT-Q based on 2434 children and young adult patients with cleft lip and/or palate from 12 countries

PubMed Central

Riff, Karen WY Wong; Longmire, Natasha M.; Albert, Asteria; Allen, Gregory C.; Aydin, Mustafa Asim; Baker, Stephen B.; Cano, Stefan J.; Chan, Andrew J.; Courtemanche, Douglas J.; Dreise, Marieke M.; Goldstein, Jesse A.; Goodacre, Timothy E.E.; Harman, Karen E.; Munill, Montserrat; Mahony, Aisling O.; Aguilera, Mirta Palomares; Peterson, Petra; Pusic, Andrea L.; Slator, Rona; Stiernman, Mia; Tsangaris, Elena; Tholpady, Sunil S.; Vargas, Federico; Forrest, Christopher R.

2018-01-01

BACKGROUND: Patients with cleft lip and/or palate can undergo numerous procedures to improve appearance, speech, dentition and hearing. We developed a cleft-specific patient-reported outcome instrument to facilitate rigorous international measurement and benchmarking. METHODS: Data were collected from patients aged 8–29 years with cleft lip and/or palate at 30 hospitals in 12 countries between October 2014 and November 2016. Rasch measurement theory analysis was used to refine the scales and to examine reliability and validity. Normative CLEFT-Q values were computed for age, sex and cleft type. RESULTS: Analysis led to the refinement of an eating and drinking checklist and 12 scales measuring appearance (of the face, nose, nostrils, teeth, lips, jaws and cleft lip scar), health-related quality of life (psychological, social, school, speech distress) and speech function. All scales met the requirements of the Rasch model. Analysis to explore differential item functioning by age, sex and country provided evidence to support the use of a common scoring algorithm for each scale for international use. Lower (worse) scores on CLEFT-Q scales were associated with having a speech problem, being unhappy with facial appearance, and needing future cleft-related treatments, providing evidence of construct validity. Normative values for age, sex and cleft type showed poorer outcomes associated with older age, female sex and having a visible cleft. INTERPRETATION: The CLEFT-Q represents a rigorously developed instrument that can be used internationally to collect and compare evidence-based outcomes data from patients aged 8–29 years of age with cleft lip and/or palate. PMID:29661814

Psychosocial acceptance of cleft patients: has something changed?

PubMed

Pausch, Niels Christian; Winter, Karsten; Halama, Dirk; Wirtz, Christian; Yildirim, Vedat; Sirintawat, Nattapong; Nattapong, Sirintawat

2016-03-01

The main purpose of this study was to analyse the reactions of a panel (non-cleft adults) when observing cleft lip morphology. Although rehabilitation of cleft lip and palate is improving, there are still indications of social rejection of cleft patients by the people around them. Polarity profiles have been used since 1973 to measure social distance with regard to cleft patients. Because rehabilitation results and education of the society have improved in recent decades, we investigated whether social distance has been affected. The setting of this study is the Department of Oral, Craniomaxillofacial, and Facial Plastic Surgery, University Hospital of Leipzig, Germany Using a cross-sectional study design, we enrolled a sample of adult laypersons (n = 273). For the survey, we followed the concept of photograph presentation and questionnaire investigation reported by Sergl and Schmid (1973). We presented anonymised frontal and profile pictures of the faces of 50 cleft patients and asked the laypersons to specify social distance. Three predictor variables (layperson gender, profession and year of evaluation) were grouped. Although social distance has reduced during the last 40 years, life situations which require emotional proximity still cause some concern. Professional background and gender affect laypersons' attitudes. Although rehabilitation of cleft lip and palate is much better than 40 years ago, social distance remains a problem in society. It is necessary to improve both results of rehabilitation of cleft patients and social acceptance by the people around them.

Cone Beam Computed Tomographic Evaluation of Mandibular Asymmetry in Patients with Cleft Lip and Palate.

PubMed

Paknahad, Maryam; Shahidi, Shoaleh; Bahrampour, Ehsan; Beladi, Amir Saied; Khojastepour, Leila

2018-01-01

Objective The purpose of the present study was to compare mandibular vertical asymmetry in patients with unilateral and bilateral cleft lip and palate and subjects with normal occlusion. Materials and Methods Cone beam computed tomography scans of three groups consisting of 20 patients with unilateral cleft lip and palate, 20 patients affected by bilateral cleft lip and palate, and a control group of 20 subjects with normal occlusion were analyzed for this study. Condylar, ramal, and condylar plus ramal asymmetry indices were measured for all subjects using the method of Habets et al. Kruskal-Wallis and Mann-Whitney tests were used to determine any significant differences between the groups for all indices at the 95% level of confidence. Results There were no significant differences regarding sex for all mandibular asymmetry indices in all three groups. All Asymmetry indices (condylar, ramal, and condylar plus ramal asymmetry) were significantly higher in the unilateral cleft group compared with the other two groups. Conclusion Cone beam computed tomography images showed that patients with cleft lip and palate suffered from mandibular asymmetry. Subjects with unilateral cleft lip and palate had a more asymmetric mandible compared with the bilateral cleft lip and palate and control groups. Therefore, the mandible appears to be the leading factor in facial asymmetry in subjects with unilateral cleft lip and palate.

A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome

PubMed Central

Bejiqi, Ramush; Retkoceri, Ragip; Xhema-Bejiqi, Hana; Bejiqi, Rinor; Maloku, Arlinda

2017-01-01

Introduction: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. Case report: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group. PMID:28790548

Middle ear findings and need for ventilation tubes among pediatric cleft lip and palate patients in northern Finland.

PubMed

Lehtonen, Ville; Lithovius, Riitta H; Autio, Timo J; Sándor, George K; Ylikontiola, Leena P; Harila, Virpi; Pesonen, Paula; Koskinen, Sari; Anttonen, Vuokko

2016-04-01

Middle ear problems are common in cleft patients. This study aimed to determine the need for ventilation tubes (VTs) and complications such as tympanic perforation and cholesteatoma. Data of 156 children with clefts managed in northern Finland spanning 15 years from 1997 to 2011 were collected from 6 hospitals. The following were recorded: birth date, gender, cleft type, surgery timing, surgery type, number of tube insertions, tube material, middle ear findings, and tube placement timing. Clefts were divided into 4 groups: cleft palate (CP), cleft lip and palate (CLP), cleft lip (CL), and submucous cleft palate. The prevalence of middle ear findings was reported. Mucous secretion was noted in 96.8% of CLP patients, 69.2% of CP patients, and 13.0% of CL patients. In all, 82.7% of study group had 1 or more VTs placed during follow-up. All CLP patients required more than 1 VT placement. A total of 94.5% of CP patients required VTs compared to 13.0% of CL patients. In the presence of residual oral nasal fistula, the mean number of tube insertions was 5.3. The prevalence of tympanic perforations in clefts was 35.9% and cholesteatoma in 2.6% of patients. CLP and isolated CP patients have frequent middle ear infections requiring multiple VT placements. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Soft tissue nasal asymmetry as an indicator of orofacial cleft predisposition.

PubMed

Zhang, Charles; Miller, Steven F; Roosenboom, Jasmien; Wehby, George L; Moreno Uribe, Lina M; Hecht, Jacqueline T; Deleyiannis, Frederic W B; Christensen, Kaare; Marazita, Mary L; Weinberg, Seth M

2018-06-01

The biological relatives of offspring with nonsyndromic orofacial clefts have been shown to exhibit distinctive facial features, including excess asymmetry, which are hypothesized to indicate the presence of genetic risk factors. The significance of excess soft tissue nasal asymmetry in at-risk relatives is unclear and was examined in the present study. Our sample included 164 unaffected parents from families with a history of orofacial clefting and 243 adult controls. Geometric morphometric methods were used to analyze the coordinates of 15 nasal landmarks collected from three-dimensional facial surface images. Following generalized Procrustes analysis, Procrustes ANOVA and MANOVA tests were applied to determine the type and magnitude of nasal asymmetry present in each group. Group differences in mean nasal asymmetry were also assessed via permutation testing. We found that nasal asymmetry in both parents and controls was directional in nature, although the magnitude of the asymmetry was greater in parents. This was confirmed with permutation testing, where the mean nasal asymmetry was significantly different (p < .0001) between parents and controls. The asymmetry was greatest for midline structures and the nostrils. When subsets of parents were subsequently analyzed and compared (parents with bilateral vs. unilateral offspring; parents with left vs. right unilateral offspring), each group showed a similar pattern of asymmetry and could not be distinguished statistically. Thus, the side of the unilateral cleft (right vs. left) in offspring was not associated with the direction of the nasal asymmetry in parents. © 2018 Wiley Periodicals, Inc.

Centre-level variation in behaviour and the predictors of behaviour in 5-year-old children with non-syndromic unilateral cleft lip: The Cleft Care UK study. Part 5.

PubMed

Waylen, A; Mahmoud, O; Wills, A K; Sell, D; Sandy, J R; Ness, A R

2017-06-01

The aims of this study were to describe child behavioural and psychosocial outcomes associated with appearance and speech in the Cleft Care UK (CCUK) study. We also wanted to explore centre-level variation in child outcomes and investigate individual predictors of such outcomes. Two hundred and sixty-eight five-year-old children with non-syndromic unilateral cleft lip and palate (UCLP) recruited to CCUK. Parents completed the Strengths and Difficulties questionnaire (SDQ) and reported their own perceptions of the child's self-confidence. Child facial appearance and symmetry were assessed using photographs, and intelligibility of speech was derived from audio-visual speech recordings. Centre-level variation in behavioural and psychosocial outcomes was examined using hierarchical models, and associations with clinical outcomes were examined using logit regression models. Children with UCLP had a higher hyperactive difficulty score than the general population. For boys, the average score was 4.5 vs 4.1 (P=.03), and for girls, the average score was 3.8 vs 3.1 (P=.008). There was no evidence of centre-level variation for behaviour or parental perceptions of the child's self-confidence. There is no evidence of associations between self-confidence and SDQ scores and either facial appearance or behaviour. Children born with UCLP have higher levels of behaviour problems than the general population. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Facial soft-tissue asymmetry in three-dimensional cone-beam computed tomography images of children with surgically corrected unilateral clefts.

PubMed

Starbuck, John Marlow; Ghoneima, Ahmed; Kula, Katherine

2014-03-01

Cleft lip with or without cleft palate (CL/P) is a relatively common craniofacial malformation involving bony and soft-tissue disruptions of the nasolabial and dentoalveolar regions. The combination of CL/P and subsequent craniofacial surgeries to close the cleft and improve appearance of the cutaneous upper lip and nose can cause scarring and muscle pull, possibly resulting in soft-tissue depth asymmetries across the face. We tested the hypothesis that tissue depths in children with unilateral CL/P exhibit differences in symmetry across the sides of the face. Twenty-eight tissue depths were measured on cone-beam computed tomography images of children with unilateral CL/P (n = 55), aged 7 to 17 years, using Dolphin software (version 11.5). Significant differences in tissue depth symmetry were found around the cutaneous upper lip and nose in patients with unilateral CL/P.

Early Mother-Child Interaction and Later Quality of Attachment in Infants With an Orofacial Cleft Compared to Infants Without Cleft.

PubMed

Habersaat, Stephanie; Monnier, Maryline; Peter, Camille; Bolomey, Luce; Borghini, Ayala; Despars, Josée; Pierrehumbert, Blaise; Müller-Nix, Carole; Ansermet, François; Hohlfeld, Judith

2013-04-23

Objective :  The main objective of this study was to assess mother-child patterns of interaction in relation to later quality of attachment in a group of children with an orofacial cleft compared with children without cleft. Design :  Families were contacted when the child was 2 months old for a direct assessment of mother-child interaction and then at 12 months for a direct assessment of the child's attachment. Data concerning socioeconomical information and posttraumatic stress symptoms in mothers were collected at the first appointment. Participants :  Forty families of children with a cleft and 45 families of children without cleft were included in the study. Families were recruited at birth in the University Hospital of Lausanne. Results :  Results showed that children with a cleft were more difficult and less cooperative during interaction at 2 months of age with their mother compared with children without a cleft. No significant differences were found in mothers or in dyadic interactive styles. Concerning the child's attachment at 12 months old, no differences were found in attachment security. However, secure children with a cleft were significantly more avoidant with their mother during the reunion episodes than secure children without cleft. Conclusion :  Despite the facial disfigurement and the stress engendered by treatment during the first months of the infant's life, children with cleft and their mothers are doing as well as families without cleft with regard to the mothers' mental health, mother-child relationships, and later quality of attachment. A potential contribution for this absence of difference may be the pluridisciplinary support that families of children with cleft benefit from in Lausanne.

Early mother-child interaction and later quality of attachment in infants with an orofacial cleft compared to infants without cleft.

PubMed

Habersaat, Stephanie; Monnier, Maryline; Peter, Camille; Bolomey, Luce; Borghini, Ayala; Despars, Josée; Pierrehumbert, Blaise; Müller-Nix, Carole; Ansermet, François; Hohlfeld, Judith

2013-11-01

Objective : The main objective of this study was to assess mother-child patterns of interaction in relation to later quality of attachment in a group of children with an orofacial cleft compared with children without cleft. Design : Families were contacted when the child was 2 months old for a direct assessment of mother-child interaction and then at 12 months for a direct assessment of the child's attachment. Data concerning socioeconomical information and posttraumatic stress symptoms in mothers were collected at the first appointment. Participants : Forty families of children with a cleft and 45 families of children without cleft were included in the study. Families were recruited at birth in the University Hospital of Lausanne. Results : Results showed that children with a cleft were more difficult and less cooperative during interaction at 2 months of age with their mother compared with children without a cleft. No significant differences were found in mothers or in dyadic interactive styles. Concerning the child's attachment at 12 months old, no differences were found in attachment security. However, secure children with a cleft were significantly more avoidant with their mother during the reunion episodes than secure children without cleft. Conclusion : Despite the facial disfigurement and the stress engendered by treatment during the first months of the infant's life, children with cleft and their mothers are doing as well as families without cleft with regard to the mothers' mental health, mother-child relationships, and later quality of attachment. A potential contribution for this absence of difference may be the pluridisciplinary support that families of children with cleft benefit from in Lausanne.

Esthetic composition of smile in individuals with cleft lip, alveolus, and palate: visibility of the periodontium and the esthetics of smile.

PubMed

Esper, Luis Augusto; Sbrana, Michyele Cristhiane; Cunha, Mércia Jussara da Silva; Moreira, Guilherme Santos; de Almeida, Ana Lúcia Pompéia Fraga

2012-01-01

Objective. To evaluate characteristics of smile related to visibility in individuals with cleft lip, alveolus, and palate. Design. Cross-sectional. Setting. HRAC/USP, Brazil. Patients. Individuals with repaired complete unilateral cleft lip and palate (n = 45), aged 15-30 years. Interventions. Frontal facial photographs were obtained in natural and forced smiles (n = 135). Six specialists in periodontics evaluated the photographs as to the smile line, thickness, and curve of the upper lip. Main Outcome Measures. The cleft area was compared with the contralateral region. Results were expressed as percentages and means. The findings were compared between groups of periodontists. Results. Statistically significant relationship was observed in the smile line between examiners and between natural and forced smiles, regardless of the association with the cleft side. The lip was thicker at rest and thinner in the forced smile, as also evaluated by the group not experienced with cleft care. The curve of the upper lip in natural and forced smiles was considered as close to straight by both groups, regardless of the cleft. Conclusion. The smile in individuals with clefts was regarded as average for both cleft and noncleft sides. The thickness was characterized as average to thin, being thinner in forced smile and when analyzed by the group not experienced with cleft care. In the average, the curve of the upper lip was considered as straight. The present study elucidates some characteristics related to the smile in individuals with repaired unilateral cleft lip, alveolus, and palate.

Esthetic Composition of Smile in Individuals with Cleft Lip, Alveolus, and Palate: Visibility of the Periodontium and the Esthetics of Smile

PubMed Central

Esper, Luis Augusto; Sbrana, Michyele Cristhiane; Cunha, Mércia Jussara da Silva; Moreira, Guilherme Santos; de Almeida, Ana Lúcia Pompéia Fraga

2012-01-01

Objective. To evaluate characteristics of smile related to visibility in individuals with cleft lip, alveolus, and palate. Design. Cross-sectional. Setting. HRAC/USP, Brazil. Patients. Individuals with repaired complete unilateral cleft lip and palate (n = 45), aged 15–30 years. Interventions. Frontal facial photographs were obtained in natural and forced smiles (n = 135). Six specialists in periodontics evaluated the photographs as to the smile line, thickness, and curve of the upper lip. Main Outcome Measures. The cleft area was compared with the contralateral region. Results were expressed as percentages and means. The findings were compared between groups of periodontists. Results. Statistically significant relationship was observed in the smile line between examiners and between natural and forced smiles, regardless of the association with the cleft side. The lip was thicker at rest and thinner in the forced smile, as also evaluated by the group not experienced with cleft care. The curve of the upper lip in natural and forced smiles was considered as close to straight by both groups, regardless of the cleft. Conclusion. The smile in individuals with clefts was regarded as average for both cleft and noncleft sides. The thickness was characterized as average to thin, being thinner in forced smile and when analyzed by the group not experienced with cleft care. In the average, the curve of the upper lip was considered as straight. The present study elucidates some characteristics related to the smile in individuals with repaired unilateral cleft lip, alveolus, and palate. PMID:23227326

Sclerosteosis involving the temporal bone: histopathologic aspects.

PubMed

Nager, G T; Hamersma, H

1986-01-01

Sclerosteosis is a rare, potentially lethal, autosomal recessive, progressive craniotubular sclerosing bone dysplasia with characteristic facial and skeletal features. The temporal bone changes include a marked increase in overall size, extensive sclerosis, narrowing of the external auditory canal, and severe constriction of the internal auditory meatus, fallopian canal, eustachian tube, and middle ear cleft. Attenuation of the bony canals of the 9th, 10th, and 11th cranial nerves, reduction in size of the internal carotid artery, and severe obliteration of the sigmoid sinus and jugular bulb also occur. Loss of hearing, generally bilateral, is a frequent symptom. It often manifests in early childhood and initially is expressed as sound conduction impairment. Later, a sensorineural hearing loss and loss of vestibular nerve function often develop. Impairment of facial nerve function is another feature occasionally present at birth. In the beginning, a unilateral intermittent facial weakness may occur which eventually progresses to a bilateral permanent facial paresis. The histologic examination of the temporal bones from a patient with sclerosteosis explains the mechanisms involved in the progressive impairment of sound conduction and loss of cochlear, vestibular, and facial nerve function. There is a decrease of the arterial blood supply to the brain and an obstruction of the venous drainage from it. The histopathology reveals the obstacles to decompression of the middle ear cleft, ossicular chain, internal auditory and facial canals, and the risks, and in many instances the contraindications, to such procedures. On the other hand, decompression of the sigmoid sinus and jugular bulb should be considered as an additional life-saving procedure in conjunction with the prophylactic craniotomy recommended in all adult patients.

Two-stage palatoplasty, is it still a valuable treatment protocol for patients with a cleft of lip, alveolus, and palate?

PubMed

Gundlach, Karsten K H; Bardach, Janusz; Filippow, Daniel; Stahl-de Castrillon, Franka; Lenz, Jan-Hendrik

2013-01-01

Speech development is of utmost importance and requires early closure of a palatal cleft. On the other hand, it is well known that all types and timings of surgical repair of facial clefts are detrimental to maxillary growth. Nevertheless, these days one is more and more confronted with a world-wide tendency in favour of the one-in-all operation to close clefts of the lip, alveolus, and palate. Therefore, a three-centre study was performed for testing - once more - the value of two-stage palatoplasty as a means to reduce the detrimental effects of surgery on palatal growth and at the same time to also enable early speech development. Plaster casts from 85 patients have been re-evaluated. All of them had a complete unilateral cleft of lip, alveolus, and palate. They had been treated according to the old therapy protocols followed in either one of the three different cleft centres many years ago, namely in Hamburg, (Western) Germany, Iowa City, IO, USA, and Rostock, (in those days still Eastern) Germany. The impressions had been taken already in 1987 from patients being either 8 years (36 pts.) or 16 years of age (49 pts.). Three different treatment protocols had been followed for these patients in those centres in those days: The main difference was that in centres A and B the palates were closed in two stages whilst in centre C palatoplasty was performed in just one operation. The most interesting results regarding the palatal growth were that: 1. In centre C (one-stage palatoplasty) the patients had more constricted palates. 2. In centre A (two-stage palatoplasty) the patients had least often an anterior cross-bite. It appears that it was possible to show once more that closing the palate in one stage at age 1 year or less is interfering most with maxillary growth. This study leads us to conclude that two-stage palatoplasty is still a valuable treatment protocol for patients with a complete unilateral cleft of lip, alveolus, and palate, especially as apparently good guidance of speech development can lead to satisfactory speech for cleft patients in whom the hard palate was closed at a later age. Copyright © 2012 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

[When a child is born with a cleft lip and palate].

PubMed

Chapados, C

1997-01-01

The child born with cleft lip and palate. Cleft lip, cleft palate and cleft lip and palate are among the most common facial abnormalities. The birth of a child with any of these and the prospect of a schedule of treatments that will continue into late adolescence puts enormous stress on the entire family. Between 1989 and 1994, 160 babies with such malformations were born in Quebec. In a study of eight families from this population, the author examines ways in which they communicate, share tasks, react to difficulties, show interest and solve problems. By means of interviews and three questionnaires, the author determined that the first three months following the birth are the most crucial. During this time, the nurse can help the family through a redefinition of roles brought on by the prospect of numerous medical and surgical procedures. The nurse can also provide the family with emotional and educational support; help them understand and come to terms with the child's malformation, so that the child is fed properly; and help lessen the family's feelings of helplessness. The nurse must ensure that these parents are adequately informed and provide them with additional information about cleft lip, cleft palate and cleft lip and palate. She must be aware of appropriate resources and, whenever possible, refer the families to an organization or a centre specializing in this type of malformation.

Nasal changes with nasoalveolar molding in Colombian patients with unilateral cleft lip and palate.

PubMed

López-Palacio, Ana María; Cerón-Zapata, Ana María; Gómez, David F; Dávila-Calle, Angela P; Ojalvo-Arias, María Adelaida

2012-01-01

Presurgical nasoalveolar molding (PNAM) is controversial in maxillofacial orthopedics. It supposedly improves the nasal esthetics and function in unilateral cleft lip/palate (UCLP) patients. However, there is no research available in South America to support this claim. The purpose of this study was to evaluate the efficacy of presurgical nasoalveolar molding therapy on morphological changes of the noses of unilateral cleft lip/palate patients in a Colombian sample. Seventeen neonate UCLP patients using PNAM received facial impressions at the beginning of treatment; before primary rhinocheiloplasty; and before palatoplasty. A submentovertex photograph of each cast was taken and analyzed by digital photogrammetry. Wilcoxon and Friedman tests were used for within- and between-group comparisons. A statistically significant reduction of cleft nostril width, without significant changes in noncleft nostril width or total nasal width, was found after PNAM. A significant increase in cleft and noncleft nostril height, plus a nonsignificant increase in nostril area in both sides and a nonsignificant uprighting of the columella were found. These changes were maintained or further improved after rhinocheiloplasty. The presurgical nasoalveolar molding technique improved nasal tip projection and alar cartilage depression and decreased partially columella deviation before rhinocheiloplasty in South American unilateral cleft lip/palate patients.

Incomplete mobilization of the maxilla resulting in failed maxillary distraction: a case report.

PubMed

Alkan, Alper; Inal, Samet; Baş, Burcu; Ozer, Mete

2007-12-01

Maxillary distraction osteogenesis has become an accepted alternative method in the treatment of patients with severe maxillary hypoplasia in craniofacial syndromes and cleft-related deformities. Insufficient distraction, undesirable soft tissue changes, and occurrence of defective distraction vectors are among the potential complications of intraoral maxillary distraction osteogenesis. A 2-stage procedure combining maxillary advancement by distraction technique with genioplasty and mandibular setback surgery was planned to correct jaw deformities in a 22-year-old patient with severe maxillary retrusion, mandibular prognathism, and excessive lower facial height. In the first stage, osteotomies were performed and maxilla was lightly mobilized after down-fracture. Distractors were placed to the maxilla intraorally. During activation period, the maxilla rotated in a clockwise direction, producing a discrepancy between the planned and the actual vectors. Complete distraction was unsatisfactory and the complication was due to surgical technique. This case report presents the failure of maxillary distraction due to incomplete mobilization of the maxilla. Treatment of the case was achieved by the conventional osteotomy techniques at final operation. The maxilla was successfully advanced to the desired position producing good occlusion and an improved facial profile.

Surgical management of first branchial cleft anomaly presenting as infected retroauricular mass using a microscopic dissection technique.

PubMed

Chan, Kai-Chieh; Chao, Wei-Chieh; Wu, Che-Ming

2012-01-01

This is a detailed description of the clinical and anatomical presentation of the first branchial cleft anomaly presenting as retroauricular infected mass. Our experience with a microscopic dissection with control of the sinus lumen from within the cyst is also described. Between 2001 and 2008, patients with the final histologic diagnosis of first branchial cleft anomaly in the retroauricular area were managed with a microscopic dissection technique with control of the sinus lumen from within the cyst. Classifications were done in accordance with Work, Olsen, and Chilla. Outcomes measured intervention as a function of disease recurrence and complications including facial nerve function was used. Eight patients with a mean age of 14.2 years were enrolled, and this included 4 females and 4 males. Four type 1 and 4 type 2 lesions as per the Work's and Chilla's classification were found, and there were 5 sinuses, 2 fistulae, and 1 cyst according to Olsen's classification. All patients presented to the department with acute infection at the time of diagnosis. Five of the 8 patients had previous surgical treatment, 2 of those had up to 3 previous operations. None of the patients were complicated by disease recurrence or had surgical related complications (facial nerve paresis or paralysis, infection, canal stenosis) requiring reoperation with more than 1 year of follow-up. First branchial cleft anomaly presenting as retroauricular infected mass can be effectively treated by adopting a microscopic dissection technique with control of the sinus lumen from within the cyst. Copyright © 2012 Elsevier Inc. All rights reserved.

Translation and cultural adaptation of the CLEFT-Q for use in Colombia, Chile, and Spain.

PubMed

Tsangaris, Elena; Riff, Karen W Y Wong; Vargas, Federico; Aguilera, Mirta Palomares; Alarcón, Macarena Miranda; Cazalla, Asteria Albert; Thabane, Lehana; Thoma, Achilleas; Klassen, Anne F

2017-11-28

Cleft lip and/or palate (CL/P) is a common congenital craniofacial anomaly that may negatively affect an individual's appearance, health-related quality of life, or speech. In Spain, Colombia, and Chile the overall prevalence of CL/P ranges from 0.53 to 1.59 cases per 1000 live births. Currently, there is no patient-reported outcome (PRO) instrument that is specific for patients with CL/P. The CLEFT-Q is a new PRO instrument developed to measure outcomes of treatment in patients 8 to 29 years of age with CL/P. The aim of this study was to translate and culturally adapt the CLEFT-Q for use in Colombia, Chile, and Spain. The CLEFT-Q was translated from English to 3 Spanish language varieties (Colombian, Chilean, and Spanish (Spain)) and Catalan. Translation and cultural adaptation guidelines set forth by the International Society for Pharmacoeconomics and Outcomes Research were followed. The field- test version of the CLEFT-Q consisted of 13 scales (total 154 items) measuring appearance, health-related quality of life, and facial function. Forward translations revealed 10 (7%) items that were difficult to translate into Chilean, and back translations identified 34 (22%) and 21 (13%) items whose meaning differed from the English version in at least 1 of the 3 Spanish varieties and Catalan respectively. Twenty-one participants took part in cognitive debriefing interviews. Participants were recruited from plastic surgery centres in Bogotá, Colombia (n = 4), Santiago, Chile (n = 7), and Barcelona, Spain (n = 10). Most participants were males (n = 14, 67%) and were diagnosed with CL/P (n = 17, 81%). Participants reported difficulty understanding 1 item in the Colombian, 1 item in the Spanish (Spain), and 11 items from the Catalan version. Comparison of the 3 Spanish varieties revealed 61 (40%) of the 154 items whose wording differed across the 3 Spanish versions. Translation and cultural adaptation processes provided evidence of transferability of the CLEFT-Q scales into 3 Spanish varieties and Catalan, as semantic, idiomatic, experiential, and conceptual equivalence of the items, instructions, and response options were achieved.

Five-year speech and language outcomes in children with cleft lip-palate.

PubMed

Prathanee, Benjamas; Pumnum, Tawitree; Seepuaham, Cholada; Jaiyong, Pechcharat

2016-10-01

To investigate 5-year speech and language outcomes in children with cleft lip/palate (CLP). Thirty-eight children aged 4-7 years and 8 months were recruited for this study. Speech abilities including articulation, resonance, voice, and intelligibility were assessed based on Thai Universal Parameters of Speech Outcomes. Language ability was assessed by the Language Screening Test. The findings revealed that children with clefts had speech and language delay, abnormal understandability, resonance abnormality, and voice disturbance; articulation defects that were 8.33 (1.75, 22.47), 50.00 (32.92, 67.08), 36.11 (20.82, 53.78), 30.56 (16.35, 48.11), and 94.44 (81.34, 99.32). Articulation errors were the most common speech and language defects in children with clefts, followed by abnormal understandability, resonance abnormality, and voice disturbance. These results should be of critical concern. Protocol reviewing and early intervention programs are needed for improved speech outcomes. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Use of early hard palate closure using a vomer flap in cleft lip and palate patients.

PubMed

Smarius, Bram J A; Breugem, Corstiaan C

2016-08-01

The aim of the present study was to determine the influence of the vomer flap during cleft palate closure. A retrospective review was performed of all consecutive unilateral/bilateral complete cleft lip and palate (Veau III en IV) children who were treated by a simultaneous lip and hard palate closure using a vomer flap. Data were collected for sex, date of birth, syndrome, adoption, cleft palate type, type of repair, date of cleft repair, cleft width, lateral incisions, fistula and location of fistula. Ninety-one children (M = 62, F 29) were operated. Mean age at time of lip closure and vomer flap was 5.8 months (range 2.9 months to 49.2 months, SD 7.1) and the mean age at palate closure was 13.6 months (range 6.3 months to 79.9 months, SD 10.8). The mean cleft width at first assessment was 13.0 mm (range 7-22 mm) compared to 8.8 mm (range 4-15 mm) at second assessment (mean difference 4.6 mm, 95% CI 3.93-5.35, p < 0.01). One patient developed a fistula (1.1%) and required secondary surgery for closure. The vomer flap leads to a substantial decrease in cleft width, subsequently leading to a low fistula incidence (1.1%). Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Simultaneous maxillary distraction osteogenesis using a twin-track distraction device combined with alveolar bone grafting in cleft patients: preliminary report of a technique.

PubMed

Suzuki, Eduardo Yugo; Watanabe, Masayo; Buranastidporn, Boonsiva; Baba, Yoshiyuki; Ohyama, Kimie; Ishii, Masatoshi

2006-01-01

The simultaneous use of cleft reduction and maxillary advancement by distraction osteogenesis has not been applied routinely because of the difficulty in three-dimensional control and stabilization of the transported segments. This report describes a new approach of simultaneous bilateral alveolar cleft reduction and maxillary advancement by distraction osteogenesis combined with autogenous bone grafting. A custom-made Twin-Track device was used to allow bilateral alveolar cleft closure combined with simultaneous maxillary advancement, using distraction osteogenesis and a rigid external distraction system in a bilateral cleft lip and palate patient. After a maxillary Le Fort I osteotomy, autogenous iliac bone graft was placed in the cleft spaces before suturing. A latency period of six days was observed before activation. The rate of activation was one mm/d for the maxillary advancement and 0.5 mm/d for the segmental transport. Accordingly, the concave facial appearance was improved with acceptable occlusion, and complete bilateral cleft closure was attained. No adjustments were necessary to the vector of the transported segments during the activation and no complications were observed. The proposed Twin-Track device, based on the concept of track-guided bone transport, permitted three-dimensional control over the distraction processes allowing simultaneous cleft closure, maxillary distraction, and autogenous bone grafting. The combined simultaneous approach is extremely advantageous in correcting severe deformities, reducing the number of surgical interventions and, consequently, the total treatment time.

Early correction of septum JJ deformity in unilateral cleft lip-cleft palate.

PubMed

Morselli, Paolo G; Pinto, Valentina; Negosanti, Luca; Firinu, Antonella; Fabbri, Erich

2012-09-01

The treatment of patients affected by unilateral cleft lip-cleft palate is based on a multistage procedure of surgical and nonsurgical treatments in accordance with the different types of deformity. Over time, the surgical approach for the correction of a nasal deformity in a cleft lip-cleft palate has changed notably and the protocol of treatment has evolved continuously. Not touching the cleft lip nose in the primary repair was dogmatic in the past, even though this meant severe functional, aesthetic, and psychological problems for the child. McComb reported a new technique for placement of the alar cartilage during lip repair. The positive results of this new approach proved that the early correction of the alar cartilage anomaly is essential for harmonious facial growth with stable results and without discomfort for the child. The authors applied the same principles used for the treatment of the alar cartilage for correction of the septum deformity, introducing a primary rhinoseptoplasty during the cheiloplasty. The authors compared two groups: group A, which underwent septoplasty during cleft lip repair; and group B, which did not. After the anthropometric evaluation of the two groups, the authors observed better symmetry regarding nasal shape, correct growth of the nose, and a strong reduction of the nasal deformity in the patients who underwent primary JJ septum deformity correction. The authors can assume that, similar to the alar cartilage, the septum can be repositioned during the primary surgery, without causing growth anomaly, improving the morphologic/functional results.

Influences of palatoplasty by the push-back procedure on craniofacial morphology and growth.

PubMed

Iwasaki, Hiroshi; Kudo, Motonori; Yamamoto, Yuko

2012-12-01

For patients with a cleft palate, the push-back procedure which accompanies posterior shifting of palatal flap is thought to be most effective way of. achieving adequate velopharyngeal function. In this study, we aimed to evaluate the influences of the push-back procedure on the craniofacial morphology and its growth. Using cephalometry we compared the craniofacial morphology and growth of three groups of Japanese children, living in the same region (Hokkaido, Japan). 1) 28 children (13 girls and 15 boys) with operated submucous cleft palates at the ages of 9 and 14 respectively. 2) 12 age-matched children (7 girls and 5 boys) with unoperated submucous cleft palates. 3) 60 age-matched non-cleft children (30 girls and 30 boys) with normal occlusion. None of them received dentofacial orthopaedic treatment. While the patients who had been operated on had significant differences in posterior upper facial height and inclination of the palatal plane when compared with non-cleft children or unoperated cleft children, they showed no statistically significant difference in anteroposterior positioning of anterior part of the maxilla, compared with the unoperated. The influences of palatoplasty by the push-back procedure with posterior positioning of the palatal flaps on craniofacial morphology are additional to the cleft palate, and of minor concern. Crown Copyright © 2011. Published by Elsevier Ltd. All rights reserved.

Toward an Orofacial Gene Regulatory Network

PubMed Central

Kousa, Youssef A.; Schutte, Brian C.

2015-01-01

Orofacial clefting is a common birth defect with significant morbidity. A panoply of candidate genes have been discovered through synergy of animal models and human genetics. Among these, variants in Interferon Regulatory Factor 6 (IRF6) cause syndromic orofacial clefting and contribute risk toward isolated cleft lip and palate (1/700 live births). Rare variants in IRF6 can lead to Van der Woude Syndrome (1/35,000 live births) and Popliteal Pterygium Syndrome (1/300,000 live births). Furthermore, IRF6 regulates GRHL3 and rare variants in this downstream target can also lead to Van der Woude Syndrome. In addition, a common variant (rs642961) in the IRF6 locus is found in 30% of the world’s population and contributes risk for isolated orofacial clefting. Biochemical studies revealed that rs642961 abrogates one of four AP-2alpha binding sites. Like IRF6 and GRHL3, rare variants in TFAP2A can also lead to syndromic orofacial clefting with lip pits (Branchio-oculo-facial Syndrome). The literature suggests that AP-2alpha, IRF6 and GRHL3 are part of a pathway that is essential for lip and palate development. In addition to updating the pathways, players and pursuits, this review will highlight some of the current questions in the study of orofacial clefting. PMID:26332872

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

PubMed

Kariminejad, Ariana; Ajeawung, Norbert Fonya; Bozorgmehr, Bita; Dionne-Laporte, Alexandre; Molidperee, Sirinart; Najafi, Kimia; Gibbs, Richard A; Lee, Brendan H; Hennekam, Raoul C; Campeau, Philippe M

2017-04-01

Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome. Clinical investigations coupled with karyotype analysis, array-comparative genomic hybridization, exome and Sanger sequencing were performed to characterize the condition in this child. Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. This finding coupled with the presence of characteristic features such as brachycephaly, ptosis, blepharophimosis, hypertelorism, short palpebral fissures, cleft palate and developmental delay allowed us to make a diagnosis of KOS. In conclusion, our findings highlight the importance of considering KOS as a differential diagnosis for patients under evaluation for DOORS syndrome and expand the phenotype of KOS to include small or absent terminal phalanges, nails, and the presence of hallux varus and multicystic dysplastic kidneys.

Genetics Home Reference: Hajdu-Cheney syndrome

MedlinePlus

... of the face ( midface hypoplasia ), and a large space between the nose and upper lip (a long philtrum ). Some affected children are born with an opening in the roof of the mouth called a cleft palate or with a high arched palate. In affected adults, the facial features ...

[Morphological classification and velopharyngeal function analysis of submucous cleft palate patients].

PubMed

Heng, Yin; Chunli, Guo; Bing, Shi; Yang, Li; Jingtao, Li

2016-10-01

To enhance the accuracy in diagnosis and management of submucous cleft palate via a thorough analysis of its anatomical and functional details. Two hundred seventy-six submucous cleft palate cases from 2008 to 2014 were retrospectively investigated. Subgroup analysis were performed on the basis of preoperative velopharyngeal function, palatal morphology, cleft lip concurrence, and patient motives for treatment. Among the included cases, 96 (34.78%) were presented as velopharyngeal competence (VPC), 151 (54.71%) as velopharyngeal insufficiency (VPI), and 29 (10.51%) as marginal VPI (MVPI). Eighty cases (28.99%) also demonstrated cleft lip deformity, and 196 cases (71.01%) were merely submucous cleft palate. Compared with patients with submucous cleft palate only, those with cleft lips exhibited higher rates of complete velopharyngeal closure. The pathological spectrum of submucous cleft palate varied significantly. Only 103 (37.32%) cases met all the three diagnostic criteria proposed by Calnan. Given that the velopharyngeal closure rate varies among the subgroups, the factors analyzed in this study should be considered in the personalized manage-ment of submucous cleft palate.

Repair of segmental bone defects in the maxilla by transport disc distraction osteogenesis: Clinical experience with a new device

PubMed Central

Boonzaier, James; Vicatos, George; Hendricks, Rushdi

2015-01-01

The bones of the maxillary complex are vital for normal oro-nasal function and facial cosmetics. Maxillary tumor excision results in large defects that commonly include segments of the alveolar and palatine processes, compromising eating, speech and facial appearance. Unlike the conventional approach to maxillary defect repair by vascularized bone grafting, transport disc distraction osteogenesis (TDDO) stimulates new bone by separating the healing callus, and stimulates growth of surrounding soft tissues as well. Bone formed in this way closely mimics the parent bone in form and internal structure, producing a superior anatomical, functional and cosmetic result. Historically, TDDO has been successfully used to close small horizontal cleft defects in the maxilla, not exceeding 25 mm. Fujioka et al. reported in 2012 that “no bone transporter corresponding to the (large) size of the oro-antral fistula is marketed. The authors report the successful treatment of 4 cases involving alveolar defects of between 25 mm and 80 mm in length. PMID:26389041

Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population.

PubMed

Sales, Sizina Aguiar G; Santos, Maria Luiza; Machado, Renato Assis; Dias, Verônica Oliveira; Nascimento, Jairo Evangelista; Swerts, Mario Sérgio Oliveira; Júnior, Hercílio Martelli; Martelli, Daniella Reis Barbosa

2017-08-24

Bifid uvula is a frequently observed anomaly in the general population and can be regarded as a marker for submucous cleft palate. In this study aimed to determine the frequency of bifid uvula and submucous cleft palate and their relationship with oral clefts in a Brazilian population. We conducted a transversal, descriptive and quantitative study of 1206 children between August 2014 and December 2015. A clinical examination of the children was conducted by means of inspection of the oral cavity with the aid of a tongue depressor and directed light. After the clinical examination in children, parents answered a questionnaire with questions about basic demographic information and their family history of oral clefts in their first-degree relatives. After application of the questionnaires, the information collected was archived in a database and analyzed by the statistical program SPSS ® version 19.0, by applying Chi-Square tests. Values with p<0.05 were considered statistically significant. Of the 1206 children included in this study, 608 (50.40%) were female and 598 (49.60%) were male (p=0.773). The average age of children was 3.75 years (standard deviation±3.78 years). Of the 1206 children studied, 6 (0.5%) presented with bifid uvula. Submucosal cleft palate was not found in any child. When the family histories of children were examined for the presence of nonsyndromic cleft lip and/or cleft palate, no first degree relatives presented with the congenital anomaly. This study revealed that the incidence of bifid uvula and submucous cleft palate in this population was quite similar to previously reported incidence rates. Our study suggests an intensification of new reviews, with broader and diverse populations, seeking to associate the occurrence of bifid uvula, submucous cleft palate and oral clefts. Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Assisted eruption of impacted teeth into an alveolar bone graft in a patient with cleft lip and palate.

PubMed

Peamkaroonrath, Chonthicha; Manosudprasit, Montien; Godfrey, Keith

2008-11-01

To assist the eruption of impacted upper teeth into an alveolar bone graft in a patient with a unilateral cleft lip and palate. An 8-year-old Thai boy with left unilateral complete cleft lip and palate had the chief complaint of anterior crossbite. He presented with a mild skeletal 3, dental Class III subdivision malocclusion, anterior crossbite, left unilateral posterior crossbite, moderate crowding in the upper arch with impaction of upper the left lateral incisor (tooth 22) and canine (tooth 23). In the first phase of treatment the posterior crossbite was corrected with a removable appliance with a 3-way screw. In the second phase the impacted teeth were surgically exposed, moved into the alveolar bone graft and the teeth aligned with fixed appliances. The upper left lateral incisor was extracted because of its questionable longevity. The orthodontic treatment resulted in normal overjet, overbite and an acceptable facial profile. A prosthesis replaced tooth 22. Forced eruption of impacted teeth can be carried out successfully in the cleft patients after an appropriate treatment plan has been formulated and following preparation of alveolar bone graft in the cleft site.

[Hearing capacity and speech production in 417 children with facial cleft abnormalities].

PubMed

Schönweiler, R; Schönweiler, B; Schmelzeisen, R

1994-11-01

Children with cleft palates often suffer from chronic conductive hearing losses, delayed language acquisition and speech disorders. This study presents results of speech and language outcomes in relation to hearing function and types of palatal malformations found. 417 children with cleft palates were examined during followup evaluations that extended over several years. Disorders were studied as they affected the ears, nose and throat, audiometry and speech and language pathology. Children with isolated cleft lips were excluded. Among the total group, 8% had normal speech and language development while 92% had speech or language disorders. 80% of these latter children had hearing problems that predominantly consisted of fluctuating conductive hearing losses caused by otitis media with effusion. 5% had sensorineural hearing losses. Fifty-eight children (14%) with rhinolalia aperta were not improved by speech therapy and required velopharyngoplasties, using a cranial-based pharyngeal flap. Language skills did not depend on the type of cleft palate presents but on the frequency and amount of hearing loss found. Otomicroscopy and audiometric follow-ups with insertions of ventilation tubes were considered to be most important for language development in those children with repeated middle ear infections. Speech or language therapy was necessary in 49% of the children.

Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.

PubMed

Dixon, Jill; Ellis, Ian; Bottani, Armand; Temple, Karen; Dixon, Michael James

2004-06-15

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development, which results from mutations in TCOF1. TCS comprises conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate. Although, there is usually a reasonable degree of bilateral symmetry, a high degree of both inter- and intrafamilial variability is characteristic of TCS. The wide variation in the clinical presentation of different patients, together with the fact that more than 60% of cases arise de novo, can complicate the diagnosis of mild cases and genetic counselling. In the current study, we describe how molecular techniques have been used to facilitate pre- and postnatal disease diagnoses in 13 TCS families. Copyright 2004 Wiley-Liss, Inc.

Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.

PubMed

Quintero-Rivera, Fabiola; Martinez-Agosto, Julian A

2013-08-01

Cat-Eye syndrome (CES), (OMIM 115470) also known as chromosome 22 partial tetrasomy or inverted duplicated 22q11, was first reported by Haab [1879] based on the primary features of eye coloboma and anal atresia. However, >60% of the patients lack these primary features. Here, we present a 9-month-old female who at birth was noted to have multiple defects, including facial asymmetry with asymmetric retrognathia, bilateral mandibular hypoplasia, branchial cleft sinus, right-sided muscular torticollis, esotropia, and an atretic right ear canal with low-to-moderate sensorineural hearing loss, bilateral preauricular ear tag/pits, and two skin tags on her left cheek. There were no signs of any colobomas or anal atresia. Hemifacial microsomia (HFM) was suspected clinically. Chromosome studies and FISH identified an extra marker originated from 22q11 consistent with CES, and this was confirmed by aCGH. This report expands the phenotypic variability of CES and includes partial tetrasomy of 22q11.1-q11.21 in the differential diagnosis of HFM. In addition, our case as well as the previous association of 22q11.2 deletions and duplications with facial asymmetry and features of HFM, supports the hypothesis that this chromosome region harbors genes important in the regulation of body plan symmetry, and in particular facial harmony. Copyright © 2013 Wiley Periodicals, Inc.

Intrafamilial and interfamilial variability of phenotype in familial velo-cardio-facial syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hajianpour, M.J.; Lamb, A.; Covle, M.

Two half-sisters and their mother from one family, and two full-brothers and their mother from another family presented with features of velo-cardio-facial syndrome (VCSF)/DiGeorge syndrome (DS) with intrafamilial and interfamilial variability of phenotypic expression. None of these patients had an apparent cleft palate. Cardiac anomaly, jejunal atresia and hypocalcemia were present only in the newborn patient. Fluorescence in situ hybridization for VCFS/DS with probe D22S75 showed a deletion in the 22q11.2 region in patients available for the study.

Nasal airway and septal variation in unilateral and bilateral cleft lip and palate.

PubMed

Starbuck, John M; Friel, Michael T; Ghoneima, Ahmed; Flores, Roberto L; Tholpady, Sunil; Kula, Katherine

2014-10-01

Cleft lip and palate (CLP) affects the dentoalveolar and nasolabial facial regions. Internal and external nasal dysmorphology may persist in individuals born with CLP despite surgical interventions. 7-18 year old individuals born with unilateral and bilateral CLP (n = 50) were retrospectively assessed using cone beam computed tomography. Anterior, middle, and posterior nasal airway volumes were measured on each facial side. Septal deviation was measured at the anterior and posterior nasal spine, and the midpoint between these two locations. Data were evaluated using principal components analysis (PCA), multivariate analysis of variance (MANOVA), and post-hoc ANOVA tests. PCA results show partial separation in high dimensional space along PC1 (48.5% variance) based on age groups and partial separation along PC2 (29.8% variance) based on CLP type and septal deviation patterns. MANOVA results indicate that age (P = 0.007) and CLP type (P ≤ 0.001) significantly affect nasal airway volume and septal deviation. ANOVA results indicate that anterior nasal volume is significantly affected by age (P ≤ 0.001), whereas septal deviation patterns are significantly affected by CLP type (P ≤ 0.001). Age and CLP type affect nasal airway volume and septal deviation patterns. Nasal airway volumes tend to be reduced on the clefted sides of the face relative to non-clefted sides of the face. Nasal airway volumes tend to strongly increase with age, whereas septal deviation values tend to increase only slightly with age. These results suggest that functional nasal breathing may be impaired in individuals born with the unilateral and bilateral CLP deformity. © 2014 Wiley Periodicals, Inc.

Velopharyngeal incompetence diagnosed in a series of cardiac patients prompted by the finding of a 22q11.2 deletion

DOE Office of Scientific and Technical Information (OSTI.GOV)

Driscoll, D.A.; Emanuel, B.S.; Goldmuntz, E.

Congenital heart disease is very common and may occur as an isolated malformation or as part of a well-defined syndrome. In some syndromes, specific types are overrepresented as compared to their incidence in the general population. Conotruncal anomalies are one such example where they are seen as part of DiGeorge syndrome (DGS) and Velo-Cardio-Facial syndrome (VCFS). Often, the diagnosis of VCFS is not suspected because mild facial dysmorphia is frequently not appreciated in the newborn period. While overt cleft palate, a characteristic finding in VCFS, would be detected early, a submucousal cleft palate or velopharyngeal incompetence (VPI) may go unrecognizedmore » in the pre-verbal child and may remain undiagnosed in the older patient who is not referred for a palatal evaluation. In patients with either DGS or VCFS, microdeletions of chromosome 22q11.2 have been demonstrated in almost 90% of patients. As part of our ongoing study, twenty patients with a conotruncal cardiac anomaly, without an overt cleft palate, were referred for 22q11.2 deletion analysis. 13/20 patients were found to have a deletion. All 13 deleted patients underwent palatal evaluations by a plastic surgeon and speech pathologist. 7 patients were noted to have VPI. Intervention including speech therapy and/or posterior pharyngeal flap surgery for these previously undiagnosed abnormalities is underway. These results suggest that palatal abnormalities are underdiagnosed in a significant proportion of patients with conotruncal cardiac defects. We therefore propose deletion studies in these patients followed by prompt palatal evaluations when the deletion is present. Early diagnosis of VPI and submucousal cleft palate should lead to early intervention and appropriate management of the speech difficulties encountered by these individuals.« less

Analysis of Parent-of-Origin Effects on the X Chromosome in Asian and European Orofacial Cleft Triads Identifies Associations with DMD, FGF13, EGFL6, and Additional Loci at Xp22.2.

PubMed

Skare, Øivind; Lie, Rolv T; Haaland, Øystein A; Gjerdevik, Miriam; Romanowska, Julia; Gjessing, Håkon K; Jugessur, Astanand

2018-01-01

Background: Although both the mother's and father's alleles are present in the offspring, they may not operate at the same level. These parent-of-origin (PoO) effects have not yet been explored on the X chromosome, which motivated us to develop new methods for detecting such effects. Orofacial clefts (OFCs) exhibit sex-specific differences in prevalence and are examples of traits where a search for various types of effects on the X chromosome might be relevant. Materials and Methods: We upgraded our R-package Haplin to enable genome-wide analyses of PoO effects, as well as power simulations for different statistical models. 14,486 X-chromosome SNPs in 1,291 Asian and 1,118 European case-parent triads of isolated OFCs were available from a previous GWAS. For each ethnicity, cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO) were analyzed separately using two X-inactivation models and a sliding-window approach to haplotype analysis. In addition, we performed analyses restricted to female offspring. Results: Associations were identified in "Dystrophin" ( DMD , Xp21.2-p21.1), "Fibroblast growth factor 13" ( FGF13 , Xq26.3-q27.1) and "EGF-like domain multiple 6" ( EGFL6 , Xp22.2), with biologically plausible links to OFCs. Unlike EGFL6 , the other associations on chromosomal region Xp22.2 had no apparent connections to OFCs. However, the Xp22.2 region itself is of potential interest because it contains genes for clefting syndromes [for example, "Oral-facial-digital syndrome 1" ( OFD1 ) and "Midline 1" ( MID1 )]. Overall, the identified associations were highly specific for ethnicity, cleft subtype and X-inactivation model, except for DMD in which associations were identified in both CPO and CL/P, in the model with X-inactivation and in Europeans only. Discussion/Conclusion: The specificity of the associations for ethnicity, cleft subtype and X-inactivation model underscores the utility of conducting subanalyses, despite the ensuing need to adjust for additional multiple testing. Further investigations are needed to confirm the associations with DMD, EGF16 , and FGF13 . Furthermore, chromosomal region Xp22.2 appears to be a hotspot for genes implicated in clefting syndromes and thus constitutes an exciting direction to pursue in future OFCs research. More generally, the new methods presented here are readily adaptable to the study of X-linked PoO effects in other outcomes that use a family-based design.

Ear Infection in Isolated Cleft Lip: Etiological Implications.

PubMed

Ruegg, Teresa A; Cooper, Margaret E; Leslie, Elizabeth J; Ford, Matthew D; Wehby, George L; Deleyiannis, Frederic W B; Czeizel, Andrew E; Hecht, Jacqueline T; Marazita, Mary L; Weinberg, Seth M

2017-03-01

  Chronic ear infections are a common occurrence in children with orofacial clefts involving the secondary palate. Less is known about the middle ear status of individuals with isolated clefts of the lip, although several studies have reported elevated rates of ear infection in this group. The purpose of this retrospective study was to test the hypothesis that chronic ear infections occur more frequently in isolated cleft lip cases (n = 94) compared with controls (n = 183).   A questionnaire was used to obtain information on history of chronic ear infection. The association between ear infection status (present/absent) and cleft lip status (cleft lip case/control) was tested using both chi-square and logistic regression.   The reported occurrence of chronic ear infection was significantly greater in cleft lip cases (31%) compared with unaffected controls (11%). After adjusting for age and sex, having a cleft lip increased the odds of being positive for ear infection by a factor greater than 3 (odds ratio = 3.698; 95% confidence interval = 1.91 to 7.14). Within cleft lip cases, there was no difference in the occurrence of ear infection by defect laterality or by the type of clefting present in the family history. Although velopharyngeal insufficiency was present in 18.4% of our cleft lip sample, there was no statistical association between ear infection and abnormal speech patterns. These results may have potential implications both for the clinical management of isolated cleft lip cases and for understanding the etiology of orofacial clefting.

Medical care for 4- to 5-year-olds with cleft lip/palate at the Tawanchai Center: geoinformatics study.

PubMed

Pattaranit, Rumpan; Songsung, Chainarong; Simmalee, Krisda; Pradubvong, Suteera; Thanapaisal, Chaiwit

2012-11-01

The incidence of cleft lip and cleft palate in Thailand is based on reports from three hospitals in Northeastern Thailand. There are 2.49 new babies born with cleft lip and cleft palate and craniofacial deformities for every 1,000 babies the highest incidence in the world. Area 7 Office of the National Health Security Office (NHSO) comprises Khon Kaen, Roi Et, Mahasarakam and Kalasin. The number of newborns with cleft lip and palate is an estimated 114 cases/year. A retrospective geoinformatics study was conducted using the medical records of 4- to 5-year-olds with cleft lip and cleft palate registered with the Tawanchai Center Srinagarind Hospital. To study the distribution of 4- to 5-year-olds with cleft lip and palate using geoinformatics. This retrospective study was conducted using data from the medical records, which contains the records of 4- to 5-year-olds with cleft lip and cleft palate admitted to Srinagarind Hospital. The 54-patient sample groups were registered at the Tawanchai Center Faculty of Medicine, Khon Kaen University, under the aegis of the NHSO (Area 7-Khon Kaen). The data were collected using self-administered questionnaires between May and June 2012 and geoinformatics, to study the distribution of patients' vis-a-vis the various parameters. Among the 27 male and 27femalepatients, 51.85% had cleft lip with cleft palate. Most of the cleft lip patients (7 cases; 41.18%) were in Khon Kaen, while 4 (44.44%) of the cleft palate patients were in Roi-Et and 11 (39.29%) of the cleft lip with palate patients were in Khon Kaen. Most cleft lip patients were in Roi-Et province: 1 case in each of four districts. Similarly, most cases of cleft palate were in Roi-Et province: 1 case in each of four districts. Finally, most cases (5; 50%) of cleft lip with cleft palate were found in Roi-Et province, mostly in the central (Muang) district. The use of Arc View software as an instrument for geoinformatics, spatial data collection helped to clarify the district level distribution of patients with CLP; this information is needed for policy planning and resource allocation.

Branchial cleft and pouch anomalies in childhood: a report of 50 surgical cases.

PubMed

Spinelli, C; Rossi, L; Strambi, S; Piscioneri, J; Natale, G; Bertocchini, A; Messineo, A

2016-05-01

Branchial abnormalities occur when there is disturbance in the maturation of the branchial apparatus during fetal development. Branchial anomalies are congenital lesions usually present in childhood, even if they can be diagnosed later for enlargement or infection. A correct diagnosis will lead to proper management: complete surgical excision is the treatment of choice. The purpose of this article is to present clinical features, diagnostic methods and surgical treatment of branchial anomalies in childhood, based on a series of 50 patients. We conducted a retrospective analysis of a total of 50 pediatric patients operated from June 2005 to June 2014 for the presence of branchial cleft anomalies. 27 cases (54 %) presented a second branchial cleft fistula and 11 cases (22 %) a second branchial cleft cyst and one case (2 %) presented both cyst and sinus of the second branchial cleft; four cases (8 %) presented first branchial cleft cyst whereas four cases (8 %) a first branchial cleft sinus and two cases (4 %) a first branchial cleft fistula; one case (2 %) presented a piriform sinus fistula (third branchial cleft). None of our patients presented anomalies of the fourth branchial cleft. All patients underwent surgical treatment and lesions have been removed by excision or fistulectomy. No post-surgical complication occurred. The rate of recurrence was 4 %. Pre-operative diagnosis supplies important information to the surgeon for a proper therapy: a complete excision of the lesion without inflammatory signs is essential to avoid re-intervention and to achieve a good outcome.

Additive Manufacturing Techniques for the Reconstruction of 3D Fetal Faces.

PubMed

Speranza, Domenico; Citro, Daniela; Padula, Francesco; Motyl, Barbara; Marcolin, Federica; Calì, Michele; Martorelli, Massimo

2017-01-01

This paper deals with additive manufacturing techniques for the creation of 3D fetal face models starting from routine 3D ultrasound data. In particular, two distinct themes are addressed. First, a method for processing and building 3D models based on the use of medical image processing techniques is proposed. Second, the preliminary results of a questionnaire distributed to future parents consider the use of these reconstructions both from an emotional and an affective point of view. In particular, the study focuses on the enhancement of the perception of maternity or paternity and the improvement in the relationship between parents and physicians in case of fetal malformations, in particular facial or cleft lip diseases.

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

PubMed

Brunetti-Pierri, Nicola; Del Gaudio, Daniela; Peters, Hartmut; Justino, Henri; Ott, Claus-Eric; Mundlos, Stefan; Bacino, Carlos A

2008-11-01

Robinow syndrome comprises dysmorphic facial features, short stature, brachymesomelia, segmental spine defects, and genital hypoplasia. The range of severity in this disorder is broad. We report on the clinical and molecular findings of two sib pairs from the same extended family with Robinow syndrome due to a novel intragenic ROR2 deletion involving exons 6 and 7 that could not be detected by sequencing. The affected individuals exhibited variability with respect to the cleft lip, cleft palate, and cardiac findings and for the presence in one of the patients of syringomyelia, which has not been previously reported in Robinow syndrome. Copyright 2008 Wiley-Liss, Inc.

First branchial cleft anomalies: presentation, variability and safe surgical management.

PubMed

Magdy, Emad A; Ashram, Yasmine A

2013-05-01

First branchial cleft (FBC) anomalies are uncommon. The aim of this retrospective clinical study is to describe our experience in dealing with these sporadically reported lesions. Eighteen cases presenting with various FBC anomalies managed surgically during an 8-year period at a tertiary referral medical institution were included. Ten were males (56 %) and eight females (44 %) with age range 3-18 years. Anomaly was right-sided in 12 cases (67 %). None were bilateral. Nine patients (50 %) had prior abscess incision and drainage procedures ranging from 1 to 9 times. Two also had previous unsuccessful surgical excisions. Clinical presentations included discharging tract openings in external auditory canal/conchal bowl (n = 9), periauricular (n = 6), or upper neck (n = 4); cystic postauricular, parotid or upper neck swellings (n = 5); and eczematous scars (n = 9). Three distinct anatomical types were encountered: sinuses (n = 7), fistulas (n = 6), and cysts (n = 5). Complete surgical excision required superficial parotidectomy in 11 patients (61 %). Anomaly was deep to facial nerve (FN) in three cases (17 %), in-between its branches in two (11 %) and superficial (but sometimes adherent to the nerve) in remaining cases (72 %). Continuous intraoperative electrophysiological FN monitoring was used in all cases. Two cases had postoperative temporary lower FN paresis that recovered within 2 months. No further anomaly manifestation was observed after 49.8 months' mean postoperative follow-up (range 10-107 months). This study has shown that awareness of different presentations and readiness to identify and protect FN during surgery is essential for successful management of FBC anomalies. Intraoperative electrophysiological FN monitoring can help in that respect.

Association between maternal smoking, gender, and cleft lip and palate.

PubMed

Martelli, Daniella Reis Barbosa; Coletta, Ricardo D; Oliveira, Eduardo A; Swerts, Mário Sérgio Oliveira; Rodrigues, Laíse A Mendes; Oliveira, Maria Christina; Martelli Júnior, Hercílio

2015-01-01

Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face. To assess the relationship between maternal smoking, gender and CL/P. This is an epidemiological cross-sectional study. We interviewed 1519 mothers divided into two groups: mothers of children with CL/P (n=843) and mothers of children without CL/P (n=676). All mothers were classified as smoker or non-smoker subjects during the first trimester of pregnancy. To determine an association among maternal smoking, gender, and CL/P, odds ratios were calculated and the adjustment was made by a logistic regression model. An association between maternal smoking and the presence of cleft was observed. There was also a strong association between male gender and the presence of cleft (OR=3.51; 95% CI 2.83-4.37). By binary logistic regression analysis, it was demonstrated that both variables were independently associated with clefts. In a multivariate analysis, male gender and maternal smoking had a 2.5- and a 1.5-time greater chance of having a cleft, respectively. Our findings are consistent with a positive association between maternal smoking during pregnancy and CL/P in male gender. The results support the importance of smoking prevention and introduction of cessation programs among women with childbearing potential. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Aesthetic outcome of cleft lip and palate treatment. Perceptions of patients, families, and health professionals compared to the general public.

PubMed

Gkantidis, Nikolaos; Papamanou, Despina A; Christou, Panagiotis; Topouzelis, Nikolaos

2013-10-01

The aesthetic outcome of cleft treatment is of great importance due to its complex management and the psychosocial consequences of this defect. The aim of the study was to assess the aesthetic evaluations of patients following cleft surgery by various groups and investigate potential associations of the assessments with life quality parameters. Head photos of 12 adult patients with treated unilateral cleft lip and palate were evaluated by laypeople and professionals. A questionnaire was distributed and answered by the patients and their parents. Intra-panel agreement was high (α > 0.8) for laypeople and professionals. Between-groups agreement was high for both laypeople and professionals, but not when patients and/or parents were tested. Professionals, parents, and patients were more satisfied with patients' appearance than laypeople, although in general all groups were not highly satisfied. Low satisfaction with aesthetics correlated with increased self-reported influence of the cleft in the patients' social activity and professional life (0.56 < rho < 0.74, p < 0.05). These findings highlight the observed negative influence of the cleft on the patient's social activity and professional life and underline the need for the highest quality of surgical outcome for this group of patients. Copyright © 2012 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Will the right Robin patient rise, please? Definitions and criteria during management of Robin sequence patients in the Netherlands and Belgium.

PubMed

Basart, Hanneke; Kruisinga, Frea H; Breugem, Corstiaan C; Don Griot, J Peter W; Hennekam, Raoul C; Van der Horst, Chantal M A M

2015-01-01

Robin Sequence (RS) is characterized by micrognathia and upper airway obstruction (UAO), with or without cleft palate, causing respiratory and feeding problems. Management options are: positioning; nasopharyngeal airway (NPA); tongue-lip adhesion (TLA); mandibular distraction (MDO); and tracheostomy. Controversy exists in literature regarding RS definition and management. Here we describe definitions, management strategies and criteria in opting for management strategies, used by Dutch and Belgian cleft teams. A specifically designed questionnaire was sent to members of all 16 Dutch and Belgian cleft teams. 14 cleft teams returned 35 questionnaires. All used micrognathia as definition criterion, 93.4% cleft palate, 51.5%glossoptosis and 45.7% UAO. Six different RS definitions were used; even within a single team >1 definition was used. All teams used different management strategies: all used positioning, 10 NPA, 6 TLA, 7 MDO, 8 tracheostomy, 5 refer patients with invasive treatment indication. Criteria in opting management modalities were: O2-saturation (89.3%), clinical presentation (86.2%), growth and feeding problems (69.0%), polysomnography (62.1%), and differed within teams. The Dutch and Belgian cleft teams use variable RS definitions, different management modalities and criteria in choosing management strategies. A single, strict definition and evidence-based management guidelines should be formulated for optimal patient care. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Congenital Mucous Retention Cyst of the Anterior Hard Palate! the First Case Report

PubMed Central

Priyadarshini, Smita; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Panigrahi, Rajat G

2014-01-01

Children may be born with birth defects, the most common being oro-facial clefts and fissural cysts. A well circumscribed pedunculated soft tissue growth that occurs congenitally is known as congenital epulis of the newborn or ‘Neuman’s Tumour’ as described in the literature. It is a rare lesion and the diagnosis has to be confirmed histologically. We present a rare case of a 7-year-old child with a congenital growth in the pre-maxillary region of the anterior hard palate clinically diagnosed as congenital epulis however, histologically confirmed as a mucous retention cyst. An elaborate clinical differential diagnosis is discussed. The anterior hard palate is devoid of salivary glands and the presence of a mucous retention cyst in the area is suggestive of ectopic salivary gland tissue and in a child manifesting at birth is probably the first case to be reported in the English literature. PMID:25478467

Congenital mucous retention cyst of the anterior hard palate! The first case report.

PubMed

Misra, Satya Ranjan; Priyadarshini, Smita; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Panigrahi, Rajat G

2014-10-01

Children may be born with birth defects, the most common being oro-facial clefts and fissural cysts. A well circumscribed pedunculated soft tissue growth that occurs congenitally is known as congenital epulis of the newborn or 'Neuman's Tumour' as described in the literature. It is a rare lesion and the diagnosis has to be confirmed histologically. We present a rare case of a 7-year-old child with a congenital growth in the pre-maxillary region of the anterior hard palate clinically diagnosed as congenital epulis however, histologically confirmed as a mucous retention cyst. An elaborate clinical differential diagnosis is discussed. The anterior hard palate is devoid of salivary glands and the presence of a mucous retention cyst in the area is suggestive of ectopic salivary gland tissue and in a child manifesting at birth is probably the first case to be reported in the English literature.

Academic Achievement in Children With Oral Clefts Versus Unaffected Siblings

PubMed Central

Wehby, George L.; Barron, Sheila; Romitti, Paul A.; Ansley, Timothy N.; Speltz, Matthew L.

2014-01-01

Objective To compare academic achievement in children with oral-facial clefts (OFC) with their unaffected siblings. Methods 256 children with OFC were identified from the Iowa Registry for Congenital and Inherited Disorders, and 387 unaffected siblings were identified from birth certificates. These data were linked to Iowa Testing Programs achievement data. We compared academic achievement in children with OFC with their unaffected siblings using linear regression models, adjusted for potential confounders. In post hoc analyses, we explored modifiers of siblings’ academic performance. Results Achievement scores were similar between children with OFC and their siblings. Children with cleft palate only were significantly more likely to use special education than their unaffected siblings. Siblings’ academic achievement was inversely related to distance in birth order and age from the affected child. Conclusion Children with OFC and their siblings received similar achievement scores. Younger siblings, in particular, may share a vulnerability to poor academic outcomes. PMID:24993102

Incidence of cleft pathology in Greater New Orleans before and after Hurricane Katrina.

PubMed

Goenjian, Haig A; Chiu, Ernest S; Alexander, Mary Ellen; St Hilaire, Hugo; Moses, Michael

2011-11-01

Reports after the 2005 Hurricane Katrina have documented an increase in stress reactions and environmental teratogens (arsenic, mold, alcohol). To assess the incidence of cleft pathology before and after the hurricane, and the distribution of cleft cases by gender and race. Retrospective chart review of cleft lip with or without cleft palate (CL/P) and cleft palate (CP) cases registered with the Cleft and Craniofacial Team at Children's Hospital of New Orleans, the surgical center that treated cleft cases in Greater New Orleans between 2004 and 2007. Live birth data were obtained from the Louisiana State Center for Health Statistics. The incidence of cleft cases, beginning 9 months after the hurricane (i.e., June 1, 2006) was significantly higher compared with the period before the hurricane (0.80 versus 1.42; p = .008). Within racial group comparisons showed a higher incidence among African Americans versus whites (0.42 versus 1.22; p = .01). The distribution of CL/P and CP cases by gender was significant (p = .05). The increase in the incidence of cleft cases after the hurricane may be attributable to increased stress and teratogenic factors associated with the hurricane. The increase among African Americans may have been due to comparatively higher exposure to environmental risk factors. These findings warrant further investigation to replicate the results elsewhere in the Gulf to determine whether there is a causal relationship between environmental risk factors and increased cleft pathology.

Nasolabial Morphology Following Nasoalveolar Molding in Infants With Unilateral Cleft Lip and Palate.

PubMed

Nur Yilmaz, Rahime Burcu; Germeç Çakan, Derya

2018-06-01

The aim of the present study is to evaluate the effects of nasoalveolar molding (NAM) therapy on nasolabial morphology three dimensionally, and compare the nasolabial linear and surface distance measurements in infants with unilateral cleft lip and palate. Facial plaster casts of 42 infants with unilateral cleft lip and palate taken at the onset (pre-NAM) and finishing stage (post-NAM) of NAM were scanned with 3dMDface stereophotogrammetry system (3dMD, Atlanta, GA). Nineteen nasolabial linear and surface distance measurements were performed on three-dimensional images. In addition to standard descriptive statistical calculations (means and SDs), pre- and post-NAM measurements were evaluated by paired t test. All measurements except lip gap, nostril floor width, and nostril diameter increased between pre-NAM and post-NAM. Nostril and lip height increased significantly on the cleft side (P < 0.05). No differences were present between linear and surface distance measurements except for nasal width measurement. Nasal and lip symmetry improved with NAM. The use of surface distance measurements may be advised particularly for continuous and curved anatomic structures in which circumference differences are expected.

A novel computer system for the evaluation of nasolabial morphology, symmetry and aesthetics after cleft lip and palate treatment. Part 1: General concept and validation.

PubMed

Pietruski, Piotr; Majak, Marcin; Debski, Tomasz; Antoszewski, Boguslaw

2017-04-01

The need for a widely accepted method suitable for a multicentre quantitative evaluation of facial aesthetics after surgical treatment of cleft lip and palate (CLP) has been emphasized for years. The aim of this study was to validate a novel computer system 'Analyse It Doc' (A.I.D.) as a tool for objective anthropometric analysis of the nasolabial region. An indirect anthropometric analysis of facial photographs was conducted with the A.I.D. system and Adobe Photoshop/ImageJ software. Intra-rater and inter-rater reliability and the time required for the analysis were estimated separately for each method and compared. Analysis with A.I.D. system was nearly 10-fold faster than that with the reference evaluation method. The A.I.D. system provided strong inter-rater and intra-rater correlations for linear, angular and area measurements of the nasolabial region, as well as a significantly higher accuracy and reproducibility of angular measurements in submental view. No statistically significant inter-method differences were found for other measurements. The hereby presented novel computer system is suitable for simple, time-efficient and reliable multicenter photogrammetric analyses of the nasolabial region in CLP patients and healthy subjects. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

The Reliability of a Three-Dimensional Photo System- (3dMDface-) Based Evaluation of the Face in Cleft Lip Infants

PubMed Central

Ort, Rebecca; Metzler, Philipp; Kruse, Astrid L.; Matthews, Felix; Zemann, Wolfgang; Grätz, Klaus W.; Luebbers, Heinz-Theo

2012-01-01

Ample data exists about the high precision of three-dimensional (3D) scanning devices and their data acquisition of the facial surface. However, a question remains regarding which facial landmarks are reliable if identified in 3D images taken under clinical circumstances. Sources of error to be addressed could be technical, user dependent, or patient respectively anatomy related. Based on clinical 3D photos taken with the 3dMDface system, the intra observer repeatability of 27 facial landmarks in six cleft lip (CL) infants and one non-CL infant was evaluated based on a total of over 1,100 measurements. Data acquisition was sometimes challenging but successful in all patients. The mean error was 0.86 mm, with a range of 0.39 mm (Exocanthion) to 2.21 mm (soft gonion). Typically, landmarks provided a small mean error but still showed quite a high variance in measurements, for example, exocanthion from 0.04 mm to 0.93 mm. Vice versa, relatively imprecise landmarks still provide accurate data regarding specific spatial planes. One must be aware of the fact that the degree of precision is dependent on landmarks and spatial planes in question. In clinical investigations, the degree of reliability for landmarks evaluated should be taken into account. Additional reliability can be achieved via multiple measuring. PMID:22919476

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.

PubMed

Davidson, Tom B; Sanchez-Lara, Pedro A; Randolph, Linda M; Krieger, Mark D; Wu, Shi-Qi; Panigrahy, Ashok; Shimada, Hiroyuki; Erdreich-Epstein, Anat

2012-03-22

Pierre-Robin sequence (PRS) is defined by micro- and/or retrognathia, glossoptosis and cleft soft palate, either caused by deformational defect or part of a malformation syndrome. Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome caused by mutations in the NF2 gene on chromosome 22q12.2. NF2 is characterized by bilateral vestibular schwannomas, spinal cord schwannomas, meningiomas and ependymomas, and juvenile cataracts. To date, NF2 and PRS have not been described together in the same patient. We report a female with PRS (micrognathia, cleft palate), microcephaly, ocular hypertelorism, mental retardation and bilateral hearing loss, who at age 15 was also diagnosed with severe NF2 (bilateral cerebellopontine schwannomas and multiple extramedullary/intradural spine tumors). This is the first published report of an individual with both diagnosed PRS and NF2. High resolution karyotype revealed 46, XX, del(22)(q12.1q12.3), FISH confirmed a deletion encompassing NF2, and chromosomal microarray identified a 3,693 kb deletion encompassing multiple genes including NF2 and MN1 (meningioma 1).Five additional patients with craniofacial dysmorphism and deletion in chromosome 22-adjacent-to or containing NF2 were identified in PubMed and the DECIPHER clinical chromosomal database. Their shared chromosomal deletion encompassed MN1, PITPNB and TTC28. MN1, initially cloned from a patient with meningioma, is an oncogene in murine hematopoiesis and participates as a fusion gene (TEL/MN1) in human myeloid leukemias. Interestingly, Mn1-haploinsufficient mice have abnormal skull development and secondary cleft palate. Additionally, Mn1 regulates maturation and function of calvarial osteoblasts and is an upstream regulator of Tbx22, a gene associated with murine and human cleft palate. This suggests that deletion of MN1 in the six patients we describe may be causally linked to their cleft palates and/or craniofacial abnormalities. Thus, our report describes a NF2-adjacent chromosome 22q12.2 deletion syndrome and is the first to report association of MN1 deletion with abnormal craniofacial development and/or cleft palate in humans.

Special distraction osteogenesis before bone grafting for alveolar cleft defects to correct maxillary deformities in patients with bilateral cleft lips and palates: distraction osteogenesis performed separately for each bone segment.

PubMed

Mitsukawa, Nobuyuki; Saiga, Atsuomi; Morishita, Tadashi; Satoh, Kaneshige

2014-07-01

Patients with bilateral cleft lips and palates have premaxillary protrusion and characteristic jaw deformities involving three-dimensional malposition of the premaxilla and bilateral maxillary bone segments. This study examined patients with bilateral cleft lips and palates who had deviation and hypoplasia of the premaxillas and bilateral maxillary segments. Before bone grafting, the patients were treated with special distraction performed separately for each bone segment using a halo-type external device. This report describes this novel treatment method which produced good results. The subjects were five patients with severe jaw deformities due to bilateral cleft lip and palate. They were treated with maxillary Le Fort I osteotomy and subsequent distraction performed separately for each bone segment using a halo device. In three of five patients, premaxillary osteotomy was not performed, and osteotomy and distraction were performed only for the right and left lateral segments with severe hypoplasia. All patients achieved distraction close to the desired amount. The widths of the alveolar clefts were narrowed, and satisfactory occlusion and maxillary arch form were achieved. After the surgery, three of five patients underwent bone grafting for bilateral alveolar cleft defects and the bone graft survival was satisfactory. This method had many benefits, including narrowing of alveolar clefts, improvement of maxillary hypoplasia, and achievement of a good maxillary arch form. In addition, subsequent bone grafting for alveolar cleft defects was beneficial, dental prostheses were unnecessary, and frequency of surgery and surgical invasiveness were reduced. This method is a good surgical procedure that should be considered for patients with bilateral cleft lips and palates who have premaxillary protrusion and hypoplasia of the right and left lateral segments. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Tuberculous otitis media: a difficult diagnosis and report of four cases.

PubMed

Vital, Victor; Printza, Athanasia; Zaraboukas, Thomas

2002-01-01

Tuberculous otitis media is a rare disease. Due to the condition's rarity and its usually indolent course, the diagnosis is often delayed. This can lead to irreversible complications, such as permanent hearing loss or facial nerve paralysis. Tuberculosis of the middle ear cleft, as this disease's first presentation, is indeed very rare. Surgery may be carried out prior to diagnosis occasionally, i.e., middle ear exploration for chronic middle ear disease. We present four cases of tuberculous otitis media which occurred as the first presentation of the disease. The patients did not present with the classic symptoms of middle ear tuberculosis. The diagnosis was based on the histology following middle ear exploration for chronic middle ear disease. None of the patients presented any other systemic involvement. We present a review of this disease's clinical symptoms and the diagnostic tests available.

Injection and adhesion palatoplasty: a preliminary study in a canine model.

PubMed

Martínez-Álvarez, Concepción; González-Meli, Beatriz; Berenguer-Froehner, Beatriz; Paradas-Lara, Irene; López-Gordillo, Yamila; Rodríguez-Bobada, Cruz; González, Pablo; Chamorro, Manuel; Arias, Pablo; Hilborn, Jöns; Casado-Gómez, Inmaculada; Martínez-Sanz, Elena

2013-08-01

Raising mucoperiosteal flaps in traditional palatoplasty impairs mid-facial growth. Hyaluronic acid-based hydrogels have been successfully tested for minimally invasive craniofacial bone generation in vivo as carriers of bone morphogenetic protein-2 (BMP-2). We aimed to develop a novel flapless technique for cleft palate repair by injecting a BMP-2 containing hydrogel. Dog pups with congenital cleft palate were either non-treated (n=4) or treated with two-flap palatoplasty (n=6) or with the proposed injection/adhesion technique (n=5). The experimental approach was to inject a hyaluronic acid-based hydrogel containing hydroxyapatite and BMP-2 subperiosteally at the cleft palate margins of pups aged six weeks. At week ten, a thin strip of the medial edge mucosa was removed and the margins were closed directly. Occlusal photographs and computed tomography (CT) scans were obtained up to week 20. Four weeks after the gel injection the cleft palate margins had reached the midline and engineered bone had enlarged the palatal bones. Removal of the medial edge mucosa and suturing allowed complete closure of the cleft. Compared to traditional palatoplasty, the injection/adhesion technique was easier, and the post-surgical recovery was faster. CT on week 20 revealed some overlapping or "bending" of palatal shelves in the two-flap repair group, which was not observed in the experimental nor control groups. A minimally invasive technique for cleft palate repair upon injectable scaffolds in a dog model of congenital cleft palate is feasible. Results suggest better growth of palatal bones. This represents an attractive clinical alternative to traditional palatoplasty for cleft palate patients. Copyright © 2013 Elsevier Inc. All rights reserved.

Changes in nose symmetry in unilateral cleft lip and palate treated by differing pre-surgical assistance: An objective assessment of primary repair.

PubMed

Spolyar, John L; Roldán, J Camilo

2015-07-01

Residual deformity of the nose, not lip, continues to be the greater challenge in UCCLP rehabilitation. Platform distortions often re-emerge following primary reconstruction revealing the stereotypical cleft-nose. Nasal alveolar molding reduces nose asymmetry. However, this study applies directional mechanics to the underlying platform distortions and soft tissue nose, introducing a novel device addressing the distorted septo-premaxillary junction. Retrospective assessment of 47 UCCLP patients by 2-dimensional photographic analysis with 24 subjects treated by dento-maxillary advancement (DMA) and nasal septum button-head pin (NSBP), 17 having nasal molding (NM), compared to 23 subjects without nose treatment, 16 with DMA and 7 with passive plates. Measurements were assessed by t tests, ≤ 05 confidence. Frontal view: nose-treatment sample achieved ideal ala-bases vertical symmetry (p = 0.00065 & 0.00073); significantly improved ala-rims "slump" angle (p = 0.0071). Both samples had nose positioning within the facial frame like non-cleft population. Sub-nasal view: significant differences were for columella angle (p = 0.0015), nares "offset" (p = 0.002), and columella symmetry (p = 0.022) with nose-treatment achieving near ideal columella symmetry score (0.92) vs. (0.81). NM and the novel NSBP procedures integrated with the platform correction effect of the DMA successfully treated at three distorted anatomic-levels native to UCCLP to improve nasal aesthetics. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Maxillary hypoplasia in the cleft patient: contribution of orthodontic dental space closure to orthognathic surgery.

PubMed

Lee, Justine C; Slack, Ginger C; Walker, Ryann; Graves, Lindsay; Yen, Sandra; Woo, Jessica; Ambaram, Rishal; Martz, Martin G; Kawamoto, Henry K; Bradley, James P

2014-02-01

Cleft lip and palate surgery in the developing child is known to be associated with maxillary hypoplasia. However, the effects of nonsurgical manipulations on maxillary growth have not been well investigated. The authors present the contribution of orthodontic dental space closure with canine substitution to maxillary hypoplasia and the need for orthognathic surgery. Cleft lip/palate and cleft palate patients older than 15 years of age were reviewed for dental anomalies, orthodontic canine substitution, and Le Fort I advancement. Skeletal relationships of the maxilla to the skull base (SNA), mandible (ANB), and facial height were determined on lateral cephalograms. Logistic regression analyses were performed to estimate odds ratios. Ninety-five patients were reviewed (mean age, 18.1 years). In 65 patients with congenitally missing teeth, 55 percent with patent dental spaces required Le Fort I advancement. In contrast, 89 percent who underwent canine substitution required Le Fort I advancement (p = 0.004). Canine substitution is associated with a statistically significant increase in maxillary retrognathia when compared with dental space preservation on lateral cephalograms (mean SNA, 75.2 and 79.0, respectively; p = 0.006). Adjusting for missing dentition, logistic regression analyses demonstrated that canine substitution is an independent predictor for orthognathic surgery (OR, 6.47) and maxillary retrusion defined by SNA < 78 (OR, 8.100). The coordination of orthodontia and surgery is essential to cleft care. The authors report a strong association between orthodontic cleft closure using canine substitution with maxillary hypoplasia and subsequent Le Fort I advancement, and suggest systematic criteria for management of cleft-related dental agenesis. Therapeutic, III.

Cleft palate repair with the use of osmotic expanders: a preliminary report.

PubMed

Kobus, Kazimierz F

2007-01-01

A new method of cleft palate repair by expansion of tissue by means of osmotic expanders implanted in the first stage of treatment is described. Self-expanding expanders manufactured by OSMED (Ilmenau, Germany) were implanted under the mucoperiosteal layer of the hard palate, on purpose to generate more tissue and provide facility for palate repair performed 24-48h later. Nineteen children aged from 2 to 3 years were operated from January 2004 to 15 April 2005. In clefts<10mm, tissue repair was possible without relaxing incisions. In 11 patients with clefts>10mm, cleft palate repair was more difficult and the outcomes were less favourable. Despite more generous dissection of the neurovascular bundles and other adjunctive measures such as mucosal V-Y plasty [Bardach J, Salyer K. Surgical techniques in cleft lip and palate. Chicago, London: Year Book Medical Publishers, Inc.; 1987.] and suturing of the mucosal grafts at the border of the hard and soft palate, seven 2-4mm fistulae were noted, however. Concluding, in spite of some shortcomings and unacceptable rate of fistula in wide clefts, the above-presented method seems to be an attractive concept. Despite some technical problems related mostly to still tested optimal filling phase, tissue expansion makes palate repair easier, probably without relaxing incisions and bone denudation. Consequently, some adverse effects on facial growth may be reduced. So far, there is no evidence for it, however, and since this is a preliminary report, there is a need for longer observations and larger material.

Facial Aesthetic Outcomes of Cleft Surgery: Assessment of Discrete Lip and Nose Images Compared with Digital Symmetry Analysis.

PubMed

Deall, Ciara E; Kornmann, Nirvana S S; Bella, Husam; Wallis, Katy L; Hardwicke, Joseph T; Su, Ting-Li; Richard, Bruce M

2016-10-01

High-quality aesthetic outcomes are of paramount importance to children growing up after cleft lip and palate surgery. Establishing a validated and reliable assessment tool for cleft professionals and families will facilitate cleft units, surgeons, techniques, and protocols to be audited and compared with greater confidence. This study used exemplar images across a five-point aesthetic scale, identified in a pilot project, to score lips and noses as separate units and compared these human scores with computer-based SymNose symmetry scores. Forty-five assessors (17 cleft surgeons nationally and 28 other cleft professionals from the UK South West Tri-centre units), scored 25 standardized photographs, uploaded randomly onto a Web-based platform, twice. Each photograph was shown in three forms: lip and nose together, and separately cropped images of nose only and lip only. The same images were analyzed using the SymNose software program. Scoring lips gave the best intrarater and interrater reliabilities. Nose scores were more variable. Lip scoring associated most closely with the whole-image score. SymNose ranking of the lip images related highly to the same ranking by humans (p = 0.001). The exemplar images maintained their established previous ranking. Images illustrating the aesthetic outcome grades are confirmed. The lip score is reliable and seems to dominate in the whole-image score. Noses are much harder to score reliably. It appears that SymNose can score lip images very effectively by symmetry. Further use of SymNose will be investigated, and families of children with cleft will trial the scoring system. Therapeutic, III.

[Clinical-epidemiological study in children with cleft lip palate in a secondary-level hospital].

PubMed

Pons-Bonals, Alicia; Pons-Bonals, Leticia; Hidalgo-Martínez, Sandra Margarita; Sosa-Ferreyra, Carlos Francisco

One of the most common congenital disorders that affects the facial structures is the cleft lip palate (CLP). The aim of this study was to generate the clinical-epidemiological profile of CLP patients from Hospital de Especialidades del Niño y la Mujer (HENM) Dr. Felipe Nuñez Lara, from the Ministry of Health, Queretaro, Mexico, from 2011 to 2014, who received treatment from the Cleft Lip Palate Clinic in order to provide interdisciplinary treatments for CLP patients based on the information from the pediatric records. Retrospective, cross-sectional, observational study using univariate analysis frequencies for qualitative variables; central statistical and dispersion for quantitative variables and clinical profile. One hundred records were reviewed, from which 15 were discarded for being syndromic cases. Epidemiological, clinical, and socio-demographic variables were studied. The epidemiological profile (variables associated with mother's pregnancy, patient's health at birth, nutritional and psychomotor development; family medical records, addictions, and socioeconomic factors) and clinical profile (disease classification by sex, structure, and side; surgeries classification and order in which they took place) of the treated population were registered. The results showed the need to standardize the data registration on medical records to improve the monitoring and treatment of patients and emphasize actions to maintain low incidence of CLP in Queretaro. Copyright © 2017 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

Establishment of a finite element model of a neonate's skull to evaluate the stress pattern distribution resulting during nasoalveolar molding therapy of cleft lip and palate patients.

PubMed

Bauer, Franz X; Heinrich, Veronika; Grill, Florian D; Wölfle, Felix; Hedderich, Dennis M; Rau, Andrea; Wolff, Klaus-Dietrich; Ritschl, Lucas M; Loeffelbein, Denys J

2018-04-01

Nasoalveolar Molding (NAM) is associated with ambivalent acceptance regarding effectiveness and unknown long-term results. Our purpose was to analyze the stress distribution patterns within the viscero- and neurocranium of neonates during the first phase of NAM therapy. A finite element (FE) model of a healthy four-week-old neonate was generated, derived from a computed tomography scan allowing the implementation of a bone-density-dependent material model. The influence of dental germs with variable material properties, the cleft width and area of expected force application were analyzed in a worst-case scenario. The resulting stress distribution patterns for each situation were analyzed using the software Ansys APDL. The established FE model was verified with a convergence analysis. Overall, stress patterns at the age of four weeks showed von Mises stress values below 60.000 Pa in the viscero- and neurocranium. The influences of the allocation of material properties for the dental germs, the area of force application, and the cleft width were negligible. A workflow to simulate the stress distribution and deformation in neonates attributable to various areas of force application has been established. Further analyses of the skulls of younger and older neonates are needed to describe the stress distribution patterns during NAM therapy. Copyright © 2018 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Epidemiological and genetic study in 207 cases of oral clefts in Alsace, north-eastern France.

PubMed Central

Stoll, C; Alembik, Y; Dott, B; Roth, M P

1991-01-01

The epidemiology of oral clefts was studied in the geographical area covered by our registry of congenital malformations. For each of the 207 new cases studied during the period 1979 to 1987, more than 50 factors were compared in probands and controls. The incidence of oral clefts was 1.75 per 1000, with cleft lip/palate (CL(P] 0.98 and cleft palate only (CP) 0.77 per 1000. A total of 8.2% of cleft cases were stillbirths and 5.3% were induced abortions. The more common types of associated malformations in the 76 affected cases (36.7%) with at least one anomaly other than oral cleft were neural tube defects and skeletal malformations. At birth, infants with oral clefts and other malformations were smaller, weighed less, and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with oral clefts were more often complicated by threatened abortion, polyhydramnios, and arterial hypertension. There was a significant association between clefting and consanguinity; heritability of CL(P) was 81% and first degree relatives of probands had more than three times the prevalence of noncleft malformations as controls. These results are of relevance to genetic counselling. PMID:1842671

Is gravidity 4+ a risk factor for oral clefts? A case-control study in eight South american countries using structural equation modeling.

PubMed

Gili, Juan Antonio; Poletta, Fernando Adrián; Campaña, Hebe; Comas, Belén; Pawluk, Mariela; Rittler, Monica; López-Camelo, Jorge Santiago

2013-09-01

Background : There is disagreement about the association between cleft lip with or without cleft palate and multigravidity, which could be explained by differences of adjusting for maternal age, Amerindian ancestry, and socioeconomic status. Objective : The aim was to evaluate gravidity 4+ (four or more gestations) as a risk factor for cleft lip with or without cleft palate in South America. Design : We used a matched (1:1) case-control study with structural equation modeling for related causes. Data were obtained from 1,371,575 consecutive newborn infants weighing ≥500 g who were born in the hospitals of the Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC) network between 1982 and 1999. There were a total of 1,271 cases with cleft lip with or without cleft palate (excluding midline and atypical cleft lip with or without cleft palate). A total of 1,227 case-control pairs were obtained, matched by maternal age, newborn gender, and year and place of birth. Potential confounders and intermediary variables were analyzed with structural equation modeling. Results : The crude risk of gravidity 4+ was 1.41 and the 95% confidence interval was 1.14 to 1.61. When applying structural equation modeling, the effect of multigravidity on the risk of cleft lip with or without cleft palate was 1.22 and the 95% confidence interval was 0.91 to 1.39. Conclusions : Multigravid mothers (more than four gestations) showed no greater risk of bearing children who had cleft lip with or without cleft palate than mothers with two or three births. Therefore, the often observed and reported association between multigravidity and oral clefts likely reflects the effect of other risk factors related to low socioeconomic status in South American populations.

Characterization of subtle brain abnormalities in a mouse model of Hedgehog pathway antagonist-induced cleft lip and palate.

PubMed

Lipinski, Robert J; Holloway, Hunter T; O'Leary-Moore, Shonagh K; Ament, Jacob J; Pecevich, Stephen J; Cofer, Gary P; Budin, Francois; Everson, Joshua L; Johnson, G Allan; Sulik, Kathleen K

2014-01-01

Subtle behavioral and cognitive deficits have been documented in patient cohorts with orofacial clefts (OFCs). Recent neuroimaging studies argue that these traits are associated with structural brain abnormalities but have been limited to adolescent and adult populations where brain plasticity during infancy and childhood may be a confounding factor. Here, we employed high resolution magnetic resonance microscopy to examine primary brain morphology in a mouse model of OFCs. Transient in utero exposure to the Hedgehog (Hh) signaling pathway antagonist cyclopamine resulted in a spectrum of facial dysmorphology, including unilateral and bilateral cleft lip and palate, cleft of the secondary palate only, and a non-cleft phenotype marked by midfacial hypoplasia. Relative to controls, cyclopamine-exposed fetuses exhibited volumetric differences in several brain regions, including hypoplasia of the pituitary gland and olfactory bulbs, hyperplasia of the forebrain septal region, and expansion of the third ventricle. However, in affected fetuses the corpus callosum was intact and normal division of the forebrain was observed. This argues that temporally-specific Hh signaling perturbation can result in typical appearing OFCs in the absence of holoprosencephaly--a condition classically associated with Hh pathway inhibition and frequently co-occurring with OFCs. Supporting the premise that some forms of OFCs co-occur with subtle brain malformations, these results provide a possible ontological basis for traits identified in clinical populations. They also argue in favor of future investigations into genetic and/or environmental modulation of the Hh pathway in the etiopathogenesis of orofacial clefting.

METHANOL EXPOSURE DURING GASTRULATION CAUSES HOLOPROSENCEPHALY, FACIAL DYSGENESIS AND CERVICAL VERTEBRAL MALFORMATIONS IN C57BL/6J MICE

EPA Science Inventory

Exposure of pregnant CD-1 mice to methanol during the period of gastrulation results in exencephaly, cleft palate, and cervical vertebra malformations (Rogers and Mole, 1997, Teratology 55, 364). C57BL/6J mice are sensitive to the teratogenicity of ethanol; fetuses of this strai...

Subtypes in 22q11.2 Deletion Syndrome Associated with Behaviour and Neurofacial Morphology

ERIC Educational Resources Information Center

Sinderberry, Brooke; Brown, Scott; Hammond, Peter; Stevens, Angela F.; Schall, Ulrich; Murphy, Declan G. M.; Murphy, Kieran C.; Campbell, Linda E.

2013-01-01

22q11.2 deletion syndrome (22q11DS) has a complex phenotype with more than 180 characteristics, including cardiac anomalies, cleft palate, intellectual disabilities, a typical facial morphology, and mental health problems. However, the variable phenotype makes it difficult to predict clinical outcome, such as the high prevalence of psychosis among…

[Cloverleaf skull and bilateral facial clefts].

PubMed

Alvarez-Manassero, Denisse; Manassero-Morales, Gioconda

2015-01-01

Cloverleaf skull syndrome, or Kleeblattschädel syndrome, is a rare malformation in which the skull has a cloverleaf appearance. It is caused by the premature closure of several sutures, being evident before birth. To present our experience in a case of cloverleaf skull syndrome, and update the information from the literature. A female infant of 5 months of age, diagnosed at birth with cleft lip and palate and hydrocephaly. A peritoneal ventricle valve was implanted at 30 days of life, and an ocular enucleation was performed due to an infectious process. The patient was followed-up in Genetics, where it confirmed a macrocephaly and craniosynostosis type cloverleaf skull. The 46XX cytogenetic study and echocardiography were normal. The brain CT scan showed multiple anomalies associated with hydrocephaly and non-specific malformations. Cloverleaf skull may be present in isolated form or associated with other congenital abnormalities, leading to various craniosynostosis syndromes, such as Crouzon, Pfeiffer or Carpenter. It may also be a component of the amniotic rupture sequence or to different dysplasias, such as campomelic dysplasia, thanatophoric dysplasia type 2, or the asphyxiating thoracic dystrophy of Jeune. The case presented does not fulfil all the characteristics needed to be included within a specific syndrome, and on not having a family history that suggests a hereditary pattern or chromosome abnormalities, it is concluded that it is a case of a congenital anomaly of sporadic presentation. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Tetra-phocomelia: the seal limb deformity - a case report.

PubMed

Samal, Sunil Kumar; Rathod, Setu; Ghose, Seetesh

2015-02-01

We report a case of term live baby with tetra-phocomelia born to a 35-year-old G3P2L2A0 with history of consanguineous marriage. She was an unbooked case from a tribal community with no previous antenatal visits. At 39 wk of gestation, she was admitted to our hospital with complaint of pain abdomen and on examination was found to be in second stage of labour. She delivered vaginally a term live 2.5 kg female baby with multiple anomalies. There was no history of drug intake, radiation exposure, maternal diabetes or family history of congenital anomalies to support the occurrence of tetra-phocomelia in this baby. The neonate also had multiple facial abnormalities like hypertelorism, microretrognathia and partial cleft palate. Further investigations revealed no abnormalities of internal organs. At present the baby is being followed up at our paediatric department. The case is reported owing to its rarity and term live birth.

Tetra-Phocomelia: The Seal Limb Deformity - A Case Report

PubMed Central

Rathod, Setu; Ghose, Seetesh

2015-01-01

We report a case of term live baby with tetra-phocomelia born to a 35-year-old G3P2L2A0 with history of consanguineous marriage. She was an unbooked case from a tribal community with no previous antenatal visits. At 39 wk of gestation, she was admitted to our hospital with complaint of pain abdomen and on examination was found to be in second stage of labour. She delivered vaginally a term live 2.5 kg female baby with multiple anomalies. There was no history of drug intake, radiation exposure, maternal diabetes or family history of congenital anomalies to support the occurrence of tetra-phocomelia in this baby. The neonate also had multiple facial abnormalities like hypertelorism, microretrognathia and partial cleft palate. Further investigations revealed no abnormalities of internal organs. At present the baby is being followed up at our paediatric department. The case is reported owing to its rarity and term live birth. PMID:25859493

Velo-Cardio-Facial Syndrome: 30 Years of Study

PubMed Central

Shprintzen, Robert J.

2009-01-01

Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlačková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features described that involve essentially every organ and system. The syndrome has drawn considerable attention because a number of common psychiatric illnesses are phenotypic features including attention deficit disorder, schizophrenia, and bipolar disorder. The expression is highly variable with some individuals being essentially normal at the mildest end of the spectrum, and the most severe cases having life-threatening and life-impairing problems. The syndrome is caused by a microdeletion from chromosome 22 at the q11.2 band. Although the large majority of affected individuals have identical 3 megabase deletions, less than 10% of cases have smaller deletions of 1.5 or 2.0 megabases. The 3 megabase deletion encompasses a region containing 40 genes. The syndrome has a population prevalence of approximately 1:2,000 in the U.S., although incidence is higher. Although initially a clinical diagnosis, today velo-cardio-facial syndrome can be diagnosed with extremely high accuracy by fluorescence in situ hybridization (FISH) and several other laboratory techniques. Clinical management is age dependent with acute medical problems such as congenital heart disease, immune disorders, feeding problems, cleft palate, and developmental disorders occupying management in infancy and preschool years. Management shifts to cognitive, behavioral, and learning disorders during school years, and then to the potential for psychiatric disorders including psychosis in late adolescence and adult years. Although the majority of people with velo-cardio-facial syndrome do not develop psychosis, the risk for severe psychiatric illness is 25 times higher for people affected with velo-cardio-facial syndrome than the general population. Therefore, interest in understanding the nature of psychiatric illness in the syndrome remains strong. PMID:18636631

Factors prognostic for phonetic development after cleft palate repair.

PubMed

Lee, Joon Seok; Kim, Jae Bong; Lee, Jeong Woo; Yang, Jung Dug; Chung, Ho Yun; Cho, Byung Chae; Choi, Kang Young

2015-10-01

Palatoplasty is aimed to achieve normal speech, improve food intake, and ensure successful maxillary growth. However, the velopharyngeal function is harder to control than other functions. Therefore, many studies on the prognostic factor of velopharyngeal insufficiency have been conducted. This study aimed to evaluate the relationships between speech outcomes and multimodality based on intraoral and preoperative three-dimensional computerized tomographic (CT) findings. Among 73 children with cleft palate who underwent palatoplasty between April 2011 and August 2014 at Kyungpook National University Hospital (KNUH), 27 were retrospectively evaluated. The 27 cases were non-syndromic, for which successful speech evaluation was conducted by a single speech-language pathologist (Table 1). Successful speech evaluation was defined as performing the test three times in 6-month intervals. Three intraoral parameters were measured before and immediately after operation (Fig. 1). On axial- and coronal-view preoperative facial CT, 5 and 2 different parameters were analyzed, respectively (Figs. 2 and 3). Regression analysis (SPSS IBM 22.0) was used in the statistical analysis. Two-flap palatoplasty and Furlow's double opposing Z-plasty were performed in 15 and 12 patients, respectively. The operation was performed 11 months after birth on average. Children with a higher palatal arch and wider maxillary tuberosity distance showed hypernasality (p < 0.05; Table 2). The useful prognostic factors of velopharyngeal function after palatoplasty were palate width and height, rather than initial diagnosis, treatment method, or palate length. Therefore, a more active intervention is needed, such as orthopedic appliance, posterior pharyngeal wall augmentation, or early speech training. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Additive Manufacturing Techniques for the Reconstruction of 3D Fetal Faces

PubMed Central

Citro, Daniela; Padula, Francesco; Motyl, Barbara; Marcolin, Federica; Calì, Michele

2017-01-01

This paper deals with additive manufacturing techniques for the creation of 3D fetal face models starting from routine 3D ultrasound data. In particular, two distinct themes are addressed. First, a method for processing and building 3D models based on the use of medical image processing techniques is proposed. Second, the preliminary results of a questionnaire distributed to future parents consider the use of these reconstructions both from an emotional and an affective point of view. In particular, the study focuses on the enhancement of the perception of maternity or paternity and the improvement in the relationship between parents and physicians in case of fetal malformations, in particular facial or cleft lip diseases. PMID:29410600

Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting.

PubMed

Howe, B J; Cooper, M E; Vieira, A R; Weinberg, S M; Resick, J M; Nidey, N L; Wehby, G L; Marazita, M L; Moreno Uribe, L M

2015-07-01

Children with oral clefts show a wide range of dental anomalies, adding complexity to understanding the phenotypic spectrum of orofacial clefting. The evidence is mixed, however, on whether the prevalence of dental anomalies is elevated in unaffected relatives and is mostly based on small samples. In the largest international cohort to date of children with nonsyndromic clefts, their relatives, and controls, this study characterizes the spectrum of cleft-related dental anomalies and evaluates whether families with clefting have a significantly higher risk for such anomalies compared with the general population. A total of 3,811 individuals were included: 660 cases with clefts, 1,922 unaffected relatives, and 1,229 controls. Dental anomalies were identified from in-person dental exams or intraoral photographs, and case-control differences were tested using χ(2) statistics. Cases had higher rates of dental anomalies in the maxillary arch than did controls for primary (21% vs. 4%, P = 3 × 10(-8)) and permanent dentitions (51% vs. 8%, P = 4 × 10(-62)) but not in the mandible. Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. More anomalies were seen in the ipsilateral side of the cleft. Agenesis and tooth displacements were the most common dental anomalies found in case probands for primary and permanent dentitions. Compared with controls, unaffected siblings (10% vs. 2%, P = 0.003) and parents (13% vs. 7%, P = 0.001) showed a trend for increased anomalies of the maxillary permanent dentition. Yet, these differences were nonsignificant after multiple-testing correction, suggesting genetic heterogeneity in some families carrying susceptibility to both overt clefts and dental anomalies. Collectively, the findings suggest that most affected families do not have higher genetic risk for dental anomalies than the general population and that the higher prevalence of anomalies in cases is primarily a physical consequence of the cleft and surgical interventions. © International & American Associations for Dental Research 2015.

Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies - USP (HRAC-USP) - Part 2: Pediatric Dentistry and Orthodontics

PubMed Central

FREITAS, José Alberto de Souza; GARIB, Daniela Gamba; OLIVEIRA, Thais Marchini; LAURIS, Rita de Cássia Moura Carvalho; de ALMEIDA, Ana Lúcia Pompéia Fraga; NEVES, Lucimara Teixeira; TRINDADE-SUEDAM, Ivy Kiemle; YAEDÚ, Renato Yassutaka Faria; SOARES, Simone; PINTO, João Henrique Nogueira

2012-01-01

The aim of this article is to present the pediatric dentistry and orthodontic treatment protocol of rehabilitation of cleft lip and palate patients performed at the Hospital for Rehabilitation of Craniofacial Anomalies - University of São Paulo (HRAC-USP). Pediatric dentistry provides oral health information and should be able to follow the child with cleft lip and palate since the first months of life until establishment of the mixed dentition, craniofacial growth and dentition development. Orthodontic intervention starts in the mixed dentition, at 8-9 years of age, for preparing the maxillary arch for secondary bone graft procedure (SBGP). At this stage, rapid maxillary expansion is performed and a fixed palatal retainer is delivered before SBGP. When the permanent dentition is completed, comprehensive orthodontic treatment is initiated aiming tooth alignment and space closure. Maxillary permanent canines are commonly moved mesially in order to substitute absent maxillary lateral incisors. Patients with complete cleft lip and palate and poor midface growth will require orthognatic surgery for reaching adequate anteroposterior interarch relationship and good facial esthetics. PMID:22666849

Prevalence of cleft lip and cleft palate in rural north-central guatemala.

PubMed

Matute, Jorge; Lydick, Elaine A; Torres, Olga R; Owen, Karen K; Jacobsen, Kathryn H

2015-05-01

To estimate the number of new cases of cleft lip and cleft palate in the department (state) of Alta Verapaz, Guatemala, in 2012. Cross-sectional survey of midwives from communities identified through a two-stage cluster-sampling process. Midwives were asked how many babies they had delivered in the past year and how many of those newborns had various types of birth defects, as illustrated in pictures. Indigenous Mayan communities in rural north-central Guatemala. Midwives (n = 129) who had delivered babies in the previous year. Reports of babies born with cleft lip and cleft palate. A 1-year prevalence rate of 18.9 per 10,000 for cleft lip and 4.7 per 10,000 for cleft palate was estimated for Alta Verapaz. None of the cases of cleft lip also had cleft palate. The indigenous communities in north-central Guatemala might have a relatively high cleft lip prevalence rate compared with the global average.

Management of an infant with cleft lip and palate with phocomelia in dental practice.

PubMed

Muthu, M S

2000-12-01

Cleft lip and palate is a severe birth defect occurring approximately one in 800-1000 newborn infants. The incidence varies widely among races. Cleft lip and palate together account for approximately 50% of all cases whereas isolated cleft lip and isolated cleft palate occur in about 25% of cases. Many of these congenital anomalies appear to be genetically determined though the majority are of unknown causes or teratogenic influences. Presented here is a 3 day old infant with bilateral cleft lip and palate and phocomelia for whom a feeding obturator was made and delivered to facilitate feeding.

Multivariate analysis on unilateral cleft lip and palate treatment outcome by EUROCRAN index: A retrospective study.

PubMed

Yew, Ching Ching; Alam, Mohammad Khursheed; Rahman, Shaifulizan Abdul

2016-10-01

This study is to evaluate the dental arch relationship and palatal morphology of unilateral cleft lip and palate patients by using EUROCRAN index, and to assess the factors that affect them using multivariate statistical analysis. A total of one hundred and seven patients from age five to twelve years old with non-syndromic unilateral cleft lip and palate were included in the study. These patients have received cheiloplasty and one stage palatoplasty surgery but yet to receive alveolar bone grafting procedure. Five assessors trained in the use of the EUROCRAN index underwent calibration exercise and ranked the dental arch relationships and palatal morphology of the patients' study models. For intra-rater agreement, the examiners scored the models twice, with two weeks interval in between sessions. Variable factors of the patients were collected and they included gender, site, type and, family history of unilateral cleft lip and palate; absence of lateral incisor on cleft side, cheiloplasty and palatoplasty technique used. Associations between various factors and dental arch relationships were assessed using logistic regression analysis. Dental arch relationship among unilateral cleft lip and palate in local population had relatively worse scoring than other parts of the world. Crude logistics regression analysis did not demonstrate any significant associations among the various socio-demographic factors, cheiloplasty and palatoplasty techniques used with the dental arch relationship outcome. This study has limitations that might have affected the results, example: having multiple operators performing the surgeries and the inability to access the influence of underlying genetic predisposed cranio-facial variability. These may have substantial influence on the treatment outcome. The factors that can affect unilateral cleft lip and palate treatment outcome is multifactorial in nature and remained controversial in general. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Novel computer vision analysis of nasal shape in children with unilateral cleft lip.

PubMed

Mercan, Ezgi; Morrison, Clinton S; Stuhaug, Erik; Shapiro, Linda G; Tse, Raymond W

2018-01-01

Optimization of treatment of the unilateral cleft lip nasal deformity (uCLND) is hampered by lack of objective means to assess initial severity and changes produced by treatment and growth. The purpose of this study was to develop automated 3D image analysis specific to the uCLND; assess the correlation of these measures to esthetic appraisal; measure changes that occur with treatment and differences amongst cleft types. Dorsum Deviation, Tip-Alar Volume Ratio, Alar-Cheek Definition, and Columellar Angle were assessed using computer-vision techniques. Subjects included infants before and after primary cleft lip repair (N = 50) and children aged 8-10 years with previous cleft lip (N = 50). Two expert surgeons ranked subjects according to esthetic nose appearance. Computer-based measurements strongly correlated with rankings of infants pre-repair (r = 0.8, 0.75, 0.41 and 0.54 for Dorsum Deviation, Tip-Alar Volume Ratio, Alar-Cheek Definition, and Columellar Angle, p < 0.01) while all measurements except Alar-Cheek Definition correlated moderately with rankings of older children post-repair (r ∼ 0.35, p < 0.01). Measurements were worse with greater severity of cleft type but improved following initial repair. Abnormal Dorsum Deviation and Columellar Angle persisted after surgery and were more severe with greater cleft type. Four fully-automated measures were developed that are clinically relevant, agree with expert evaluations and can be followed through initial surgery and in older children. Computer vision analysis techniques can quantify the nasal deformity at different stages, offering efficient and standardized tools for large studies and data-driven conclusions. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

The Smile Index: Part 1. A Large-Scale Study of Phenotypic Norms for Preoperative and Postoperative Unilateral Cleft Lip.

PubMed

Yao, Caroline A; Imahiyerobo, Thomas; Swanson, Jordan; Auslander, Allyn; De Cardenas, Diego; Figueiredo, Jane C; McCullough, Meghan; Costa, Melinda; Vanderburg, Richard; Magee, William P

2018-01-01

Unilateral cleft lip has a spectrum of disease morphology, but severity classifications are difficult given the absence of accessible, objective assessment tools or reference data. The authors characterize the spectrum of cleft morphology before and after surgical repair for a large, multi-ethnic population using easily identifiable facial landmarks collected through a novel smart phone-based application. Anthropometric measurements and standardized photographs were prospectively collected in Morocco, Bolivia, Vietnam, and Madagascar during medical missions in 2015 using an application designed specifically for the study. After data collection, two experienced cleft surgeons and two laypersons subjectively ranked photographs based on the degree of deformity/aesthetics. One hundred forty-seven patients were analyzed. Mean preoperative cleft width ratio was 0.4 ± 0.12. Nasolabial symmetry improved significantly from preoperatively to postoperatively for the following measurements: columellar angle (65 ± 17 degrees to 87 ± 8 degrees), nostril width ratio (1.7 ± 0.68 to 1.0 ± 0.22), philtral height ratio (0.8 ± 0.14 to 1.0 ± 0.14), and lip length ratio (0.9 ± 0.26 to 1.0 ± 0.11) (p < 0.001). Surgeon and layperson rankings showed high inter-rater reliability (r = 0.64, p < 0.001). Preoperatively, multivariate regression showed that cleft width ratio, nostril width ratio, and philtral height ratio were predictive of rank (p < 0.01). Postoperatively, philtral height ratio was most predictive of rank (p = 0.0097). Most cleft characteristics were not significantly different between countries. The authors present simpler, more straightforward measures to quantify preoperative and postoperative morphology/aesthetics and introduce a novel technology to streamline and standardize measurements to make data collection more accessible.

Comparison between autogenous iliac bone and freeze-dried bone allograft for repair of alveolar clefts in the presence of plasma rich in growth factors: A randomized clinical trial.

PubMed

Shirani, Gholamreza; Abbasi, Amir J; Mohebbi, Simin Z; Moharrami, Mohammad

2017-10-01

This study aimed to compare the effectiveness of alveolar cleft repair using iliac bone and freeze-dried bone allograft (FDBA) in the presence of plasma rich in growth factors (PRGF). Patients with unilateral alveolar cleft (n = 32) were randomly allocated to either the iliac plus PRGF group or the FDBA plus PRGF group. CBCT images were obtained before and 6 months after the surgery to assess the regenerated bone volume. Paired t-tests and two-way analysis of variance (ANOVA) were applied to analyze the data using SPSS 16.0 software. The patients' mean age was 15 ± 5.7 years (range = 8-27). In the iliac plus PRGF group, the mean volume of cleft before the surgery and the mean regenerated bone volume 6 months after were 1.67 ± 0.66 and 1.14 ± 0.47 cm 3 , respectively. The corresponding values were 1.5 ± 0.54 and 0.72 ± 0.23 cm 3 in the FDBA plus PRGF group. The remaining bone to cleft volume ratio was not associated with grafting time (secondary or tertiary) and the original cleft volume. Iliac bone reinforced with PRGF was more successful than FDBA plus PRGF in repairing alveolar cleft (p = 0.007). Due to the poor performance of the allograft, autografts should still be preferred in spite of possible donor site morbidity. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Ear Infection in Isolated Cleft Lip: Etiological Implications

PubMed Central

Ruegg, Teresa A.; Cooper, Margaret E.; Leslie, Elizabeth J.; Ford, Matthew D.; Wehby, George L.; Deleyiannis, Frederic W.B.; Czeizel, Andrew E.; Hecht, Jacqueline T.; Marazita, Mary L.; Weinberg, Seth M.

2015-01-01

Background and Hypothesis Chronic ear infections are a common occurrence in children with orofacial clefts involving the secondary palate. Less is known about the middle ear status of individuals with isolated clefts of the lip, although several studies have reported elevated rates of ear infection in this group. The purpose of this retrospective study was to test the hypothesis that chronic ear infections occur more frequently in isolated cleft lip cases (n=94) compared with controls (n=183). Methods A questionnaire was used to obtain information on history of chronic ear infection. The association between ear infection status (present/absent) and cleft lip status (cleft lip case/control) was tested using both chi-square and logistic regression. Results and Conclusions The reported occurrence of chronic ear infection was significantly greater in cleft lipcases (31%) compared to unaffected controls (11%). After adjusting for age and sex, having a cleft lip increased the odds of being positive for ear infection by a factor greater than three (OR=3.698; 95%CI=1.91–7.14). Within cleft lipcases, there was no difference in the occurrence of ear infection by defect laterality or by the type of clefting present in the family history. Although velopharyngeal insufficiency was present in 18.4% of our cleft lip sample, there was no statistical association between ear infection and abnormal speech patterns. These results may have potential implications both for the clinical management of isolated cleft lip cases and for understanding the etiology of orofacial clefting. PMID:26153759

Critical analysis of consecutive unilateral cleft lip repairs: determining ideal sample size.

PubMed

Power, Stephanie M; Matic, Damir B

2013-03-01

Objective : Cleft surgeons often show 10 consecutive lip repairs to reduce presentation bias, however the validity remains unknown. The purpose of this study is to determine the number of consecutive cases that represent average outcomes. Secondary objectives are to determine if outcomes correlate with cleft severity and to calculate interrater reliability. Design : Consecutive preoperative and 2-year postoperative photographs of the unilateral cleft lip-nose complex were randomized and evaluated by cleft surgeons. Parametric analysis was performed according to chronologic, consecutive order. The mean standard deviation over all raters enabled calculation of expected 95% confidence intervals around a mean tested for various sample sizes. Setting : Meeting of the American Cleft Palate-Craniofacial Association in 2009. Patients, Participants : Ten senior cleft surgeons evaluated 39 consecutive lip repairs. Main Outcome Measures : Preoperative severity and postoperative outcomes were evaluated using descriptive and quantitative scales. Results : Intraclass correlation coefficients for cleft severity and postoperative evaluations were 0.65 and 0.21, respectively. Outcomes did not correlate with cleft severity (P  =  .28). Calculations for 10 consecutive cases demonstrated wide 95% confidence intervals, spanning two points on both postoperative grading scales. Ninety-five percent confidence intervals narrowed within one qualitative grade (±0.30) and one point (±0.50) on the 10-point scale for 27 consecutive cases. Conclusions : Larger numbers of consecutive cases (n > 27) are increasingly representative of average results, but less practical in presentation format. Ten consecutive cases lack statistical support. Cleft surgeons showed low interrater reliability for postoperative assessments, which may reflect personal bias when evaluating another surgeon's results.

Pre-anesthetic echocardiographic findings in children undergoing non-cardiac surgery at the University of Benin Teaching Hospital, Nigeria

PubMed Central

Wilson, E Sadoh,; Paul, Ikhurionan; Charles, Imarengiaye,

2016-01-01

Summary Background A pre-anaesthestic echocardiogram (echo) is requested for most non-cardiac surgeries to identify possible cardiac structural anomalies Objective To describe the prevalence and spectrum of structural cardiac abnormalities seen in various non-cardiac conditions Methods We carried out a retrospective review of pre-anaesthetic echos performed over five years on children scheduled for non-cardiac surgery. The requests were categorised according to referring specialities, and the biodata and echo findings were noted Results A total of 181 children and 181 echocardiograms were studied, and 100 (55.2%) of the patients were male. Most of the children (87, 48.1%) with oro-facial clefts were referred from dentistry. Of the 181 children, 39 (21.5%) had cardiac abnormalities, most (34, 87.2%) of whom had congenital heart disease (CHD). Ophthalmic requests with suspected congenital rubella syndrome (CRS) had the highest prevalence of 8/12 (66.7%) while the lowest was oro-facial clefts at 15/87 (17.2%). Atrial septal defect was the commonest abnormality, found in 14 patients (35.9%) Conclusion Pre-anaesthetic echo should be performed, especially for children with suspected CRS and other congenital anomalies, requiring non-cardiac surgery. PMID:27701485

Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico.

PubMed

Corona-Rivera, Jorge Román; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Peña-Padilla, Christian; Olvera-Molina, Sandra; Orozco-Martín, Miriam A; García-Cruz, Diana; Ríos-Flores, Izabel M; Gómez-Rodríguez, Brian Gabriel; Rivas-Soto, Gemma; Pérez-Molina, J Jesús

2018-02-19

We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during the period 2009-2016 at the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case-control study was conducted among 420 newborns, including only those 105 patients with nonsyndromic cleft lip with or without cleft palate (cases), and 315 infants without birth defects (controls). Data were analyzed using multivariable logistic regression analysis expressed as adjusted odds ratio with 95% confidence intervals . The overall prevalence for typical orofacial clefts was 28 per 10,000 (95% confidence interval: 24.3-31.6), or 1 per 358 live births. The mean values for the prepregnancy weight, antepartum weight, and pre-pregnancy body mass index were statistically higher among the mothers of cases. Infants with nonsyndromic cleft lip with or without cleft palate had a significantly higher risk for previous history of any type of congenital anomaly (adjusted odds ratio: 2.7; 95% confidence interval: 1.4-5.1), history of a relative with cleft lip with or without cleft palate (adjusted odds ratio: 19.6; 95% confidence interval: 8.2-47.1), and first-trimester exposures to progestogens (adjusted odds ratio: 6.8; 95% CI 1.8-25.3), hyperthermia (adjusted odds ratio: 3.4; 95% confidence interval: 1.1-10.6), and common cold (adjusted odds ratio: 3.6; 95% confidence interval: 1.1-11.9). These risks could have contributed to explain the high prevalence of orofacial clefts in our region of Mexico, emphasizing that except for history of relatives with cleft lip with or without cleft palate, most are susceptible of modification. © 2018 Japanese Teratology Society.

Cleft Lip and Cleft Palate Surgery: Malpractice Litigation Outcomes.

PubMed

Justin, Grant A; Brietzke, Scott E

2017-01-01

  This study examined malpractice claims related to cleft lip and cleft palate surgery to identify common allegations and injuries and reviewed financial outcomes.   The WestlawNext legal database was analyzed for all malpractice lawsuits and settlements related to the surgical repair of cleft lip and palate.   Inclusion criteria included patients undergoing surgical repair of a primary cleft lip or palate or revision for complications of previous surgery. Data evaluated included patient demographics, type of operation performed, plaintiff allegation, nature of injury, and litigation outcomes.   A total of 36 cases were identified, with 12 unique cases from 1981 to 2006 meeting the inclusion criteria. Six cases (50%) were decided by a jury and six by settlement. Five cases involved complications related to the specific surgery, and the other seven were associated with any surgery and perioperative care of children and adults. Cleft palate repair (50%) was the most frequently litigated surgery. Postoperative negligent supervision was the most common allegation (42%) and resulted in a payout in each case (mean = $3,126,032). Death (42%) and brain injury (25%) were the most frequent injuries reported. Financial awards were made in nine cases (after adjusting for inflation, mean = $2,470,552, range = $0 to $7,704,585). The awards were significantly larger for brain injury than other outcomes ($4,675,395 versus $1,368,131 after adjusting for inflation, P = .0101).   Malpractice litigation regarding cleft lip and palate surgery is uncommon. However, significant financial awards involving perioperative brain injury have been reported.

Clinical outcomes of primary palatoplasty in pre-school-aged cleft palate children in Srinagarind hospital: quality of life.

PubMed

Pradubwong, Suteera; Mongkholthawornchai, Siriporn; Keawkhamsean, Natda; Patjanasoontorn, Niramol; Chowchuen, Bowornsilp

2014-10-01

Cleft lips and cleft palates are common congenital anomalies, which affects facial appearance, speech, hearing, teeth alignment and other structures. Craniofacial anomalies and speech disorders are crucial problems in the preschool-aged children (5-6 years old), when they start attending school and become more engaged in the community. This condition, which differentiates them from other students, can lead to teasing or mocking which can cause low-self esteem, an inferiority complex, andfoster bad relationships with friends. Missing class in order to receive treatment and other additional care can affect a student's learning, development and overall-quality of life. The purpose of this research was to study the quality of life in preschool-aged cleftpalate children and satisfaction with their level of speech. This was a retrospective, descriptive study. The data were collected by reviewing medical records of patients with cleft lip and cleft palate aged 5-6 years old who underwent operation and treatment with the Tawanchai Center at Srinagarind Hospital. There were 39patients in this study. Data collection was conducted for 5 months (June to October 2013). The research instruments were: (1) General Demographic Questionnaire, (2) Quality of Life Questionnaire with 5 Domains, and (3) the Satisfaction of Speech Questionnaire. The descriptive statistics, percentages and the standard deviation were analyzed in the present study. The findings revealedfamily information pertaining to CLP treatment and the impact it has on consumption, speech training, hearing test, development, dental treatment, communication skills, participation, referral treatment as well as the quality ofcoordinationfor advanced treatment. The present study revealed that all ofthe aforementioned criteria were met at a high level. Moreover the child's sickness had only a moderate impact on family life. In conclusion, the overall satisfaction was at a very high level. It was concluded that the collaboration of the Tawanchai Cleft Center and the government, as well as with private and non-governmental organizations was exceptional, particularly in regard to providing proper and continuous treatment for patients with cleft lips and/or cleft palate. The findings reflect a good quality of life in the pre-schooled children with cleft lip and cleft palate that received treatment from the Tawanchai Cleft Center at Srinagarind Hospital. Furthermore, the study showed that the problems associated with the condition, only affected the family's lives at a minimal level.

Electromyographic analysis of superior orbicularis oris muscle function in children surgically treated for unilateral complete cleft lip and palate.

PubMed

Szyszka-Sommerfeld, Liliana; Woźniak, Krzysztof; Matthews-Brzozowska, Teresa; Kawala, Beata; Mikulewicz, Marcin

2017-09-01

The aim of this study was to assess the electrical activity of the superior orbicularis oris muscle in children surgically treated for unilateral complete cleft lip and palate (UCCLP). The sample comprised 45 patients 6.38-12.68 years of age with UCCLP and 40 subjects 6.61-11.71 years of age with no clefts. Electromyographical (EMG) recordings were taken with a DAB-Bluetooth Instrument (Zebris Medical GmbH, Germany) in the rest position and during saliva swallowing, lip protrusion and reciprocal compression of the lips, as well as while producing the phonemes /p/, /b/, and /m/ combined with the vowel /a/. The electrical activity of the upper lip during saliva swallowing and lip compression was significantly greater in the cleft group. Similar resting level activity was observed in both groups. During the production of the /p/, /b/, and /m/ phonemes combined with the vowel /a/ the results showed no significant differences in the EMG activity between children with UCCLP and noncleft subjects. Patients with UCCLP have abnormal upper lip function characterized by increased activity of the superior orbicularis oris muscle during saliva swallowing and lip compression, and this may affect facial morphology. Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.

The role of folate metabolism in orofacial development and clefting

PubMed Central

Wahl, Stacey E.; Kennedy, Allyson E.; Wyatt, Brent H.; Moore, Alexander D.; Pridgen, Deborah E.; Cherry, Amanda M.; Mavila, Catherine B.; Dickinson, Amanda J.G.

2015-01-01

Folate deficiency has been associated with numerous diseases and birth defects including orofacial defects. However, whether folate has a role in the face during early orofacial development has been unclear. The present study reveals that pharmacological and antisense oligonucleotide mediated inhibition of DHFR, an integral enzyme in the folate pathway, results in specific changes in the size and shape of the midface and embryonic mouth. Such defects are accompanied by a severe reduction in the muscle and cartilage jaw elements without significant change in neural crest pattern or global levels of methylation. We propose that the orofacial defects associated with DHFR deficient function are the result of decreased cell proliferation and increased cell death via DNA damage. In particular, localized apoptosis may also be depleting the cells of the face that express crucial genes for the differentiation of the jaw structures. Folate supplementation is widely known to reduce human risk for orofacial clefts. In the present study, we show that activating folate metabolism can reduce median oral clefts in the primary palate by increasing cell survival. Moreover, we demonstrate that a minor decrease in DHFR function exacerbates median facial clefts caused by RAR inhibition. This work suggests that folate deficiencies could be a major contributing factor to multifactorial orofacial defects. PMID:26144049

Autosomal Dominant Nonsyndromic Cleft Lip and Palate: Significant Evidence of Linkage at 18q21.1

PubMed Central

Beiraghi, Soraya ; Nath, Swapan K. ; Gaines, Matthew ; Mandhyan, Desh D. ; Hutchings, David ; Ratnamala, Uppala ; McElreavey, Ken ; Bartoloni, Lucia ; Antonarakis, Gregory S. ; Antonarakis, Stylianos E. ; Radhakrishna, Uppala 

2007-01-01

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital facial defects, with an incidence of 1 in 700–1,000 live births among individuals of European descent. Several linkage and association studies of NSCL/P have suggested numerous candidate genes and genomic regions. A genomewide linkage analysis of a large multigenerational family (UR410) with NSCL/P was performed using a single-nucleotide–polymorphism array. Nonparametric linkage (NPL) analysis provided significant evidence of linkage for marker rs728683 on chromosome 18q21.1 (NPL=43.33 and P=.000061; nonparametric LOD=3.97 and P=.00001). Parametric linkage analysis with a dominant mode of inheritance and reduced penetrance resulted in a maximum LOD score of 3.61 at position 47.4 Mb on chromosome 18q21.1. Haplotype analysis with informative crossovers defined a 5.7-Mb genomic region spanned by proximal marker rs1824683 (42,403,918 bp) and distal marker rs768206 (48,132,862 bp). Thus, a novel genomic region on 18q21.1 was identified that most likely harbors a high-risk variant for NSCL/P in this family; we propose to name this locus “OFC11” (orofacial cleft 11). PMID:17564975

Evaluation of 5-year-old children with complete cleft lip and palate: Multicenter study. Part 1: Lip and nose aesthetic results.

PubMed

Dissaux, Caroline; Bodin, Frédéric; Grollemund, Bruno; Picard, Arnaud; Vazquez, Marie-Paule; Morand, Béatrice; James, Isabelle; Kauffmann, Isabelle; Bruant-Rodier, Catherine

2015-12-01

Cleft surgery is marked by all the controversies and the multiplication of protocols, as it has been shown by the Eurocleft study. The objective of this pilot study is to start a comparison and analyzing procedure between primary surgical protocols in French centers. Four French centers with different primary surgical protocols for cleft lip and palate repair, have accepted to be involved in this retrospective study. In each center, 20 consecutive patients with complete cleft lip and palate (10 UCLP and 10 BCLP per center), non syndromic, have been evaluated at a mean age of 5 [4,6]. In this first part, the aesthetic results of nose and lip repair were assessed based on the scale established by Mortier et al. (1997). Considering nose outcome, primary cleft repair surgery including a nasal dissection gives a statistically significant benefit in terms of septum deviation. Considering lip result, muscular dehiscence rate is significantly higher in BCLP patients with a two-stage lip closure. The centers using Millard one-stage lip closure do not have uniform results. For UCLP patients, the quality of scar is not statistically different between Skoog and Millard techniques. Primary results based on a simple, reproducible evaluation protocol. Extension to other centers required. Therapeutic study. Level III/retrospective multicenter comparative study. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Linkage study of nonsyndromic cleft lip with or without cleft palate using candidate genes and mapped polymorphic markers

DOE Office of Scientific and Technical Information (OSTI.GOV)

Stein, J.D.; Nelson, L.D.; Conner, B.J.

1994-09-01

Nonsyndromic cleft lip with or without cleft palate (CL(P)) involves fusion or growth failure of facial primordia during development. Complex segregation analysis of clefting populations suggest that an autosomal dominant gene may play a role in this common craniofacial disorder. We have ascertained 16 multigenerational families with CL(P) and tested linkage to 29 candidate genes and 139 mapped short tandem repeat markers. The candidate genes were selected based on their expression in craniofacial development or were identified through murine models. These include: TGF{alpha}, TGF{beta}1, TGF{beta}2, TGF{beta}3, EGF, EGFR, GRAS, cMyc, FGFR, Jun, JunB, PDFG{alpha}, PDGF{beta}, IGF2R, GCR Hox7, Hox8, Hox2B,more » twirler, 5 collagen and 3 extracellular matrix genes. Linkage was tested assuming an autosomal dominant model with sex-specific decreased penetrance. Linkage to all of the candidate loci was excluded in 11 families. RARA was tested and was not informative. However, haplotype analysis of markers flanking RARA on 17q allowed exclusion of this candidate locus. We have previously excluded linkage to 61 STR markers in 11 families. Seventy-eight mapped short tandem repeat markers have recently been tested in 16 families and 30 have been excluded. The remaining are being analyzed and an exclusion map is being developed based on the entire study results.« less

Reliable critical sized defect rodent model for cleft palate research.

PubMed

Mostafa, Nesrine Z; Doschak, Michael R; Major, Paul W; Talwar, Reena

2014-12-01

Suitable animal models are necessary to test the efficacy of new bone grafting therapies in cleft palate surgery. Rodent models of cleft palate are available but have limitations. This study compared and modified mid-palate cleft (MPC) and alveolar cleft (AC) models to determine the most reliable and reproducible model for bone grafting studies. Published MPC model (9 × 5 × 3 mm(3)) lacked sufficient information for tested rats. Our initial studies utilizing AC model (7 × 4 × 3 mm(3)) in 8 and 16 weeks old Sprague Dawley (SD) rats revealed injury to adjacent structures. After comparing anteroposterior and transverse maxillary dimensions in 16 weeks old SD and Wistar rats, virtual planning was performed to modify MPC and AC defects dimensions, taking the adjacent structures into consideration. Modified MPC (7 × 2.5 × 1 mm(3)) and AC (5 × 2.5 × 1 mm(3)) defects were employed in 16 weeks old Wistar rats and healing was monitored by micro-computed tomography and histology. Maxillary dimensions in SD and Wistar rats were not significantly different. Preoperative virtual planning enhanced postoperative surgical outcomes. Bone healing occurred at defect margin leaving central bone void confirming the critical size nature of the modified MPC and AC defects. Presented modifications for MPC and AC models created clinically relevant and reproducible defects. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Craniofacial structure variations in patients with palatal anomalies and velopharyngeal dysfunction.

PubMed

Nachmani, Ariela; Aizenbud, Dror; Nageris, Ben; Emodi, Omri; Kassem, Firas

2017-02-01

Cephalometric evaluation of craniofacial and craniopharyngeal morphology is important for understanding the factors affecting velopharyngeal dysfunction (VPD) in patients with palatal anomalies. In this study, 366 patients with VPD were retrospectively stratified into cleft lip and palate (CLP), cleft palate (CP), submucous cleft palate (SMCP), occult submucous cleft palate (OSMCP), and non-CP groups. Lateral cephalometrics were used to assess craniofacial, craniopharyngeal, and velopharyngeal anatomy. The average craniofacial morphology in patients with VPD differed significantly according to the type of palatal anomaly. The non-CP and OSMCP groups differed from the CLP, CP, and SMCP groups in nasopharyngeal size and shape as depicted by a larger ANS-Ptm-Ve angle, a smaller S-N-Ba and NBa-PP angles, and a shorter linear value of S-Ar in the non-CP group. The CLP and CP groups had shorter ANS-Ptm, shorter Ptm-P, and smaller SNA and SNB angles. VPD patients with overt clefts have different skeletal and nasopharyngeal shapes compared to non-CP and OSMCP. Velopharyngeal function assessment should include the size and shape of the nasopharyngeal space in addition to the size and the activity of the velum and posterior and lateral walls of the nasopharynx. This should enable a more precise understanding of VPD pathology, and lead to improvements in the posterior pharyngeal flap technique in order to obtain better postoperative speech outcomes after surgical management of velopharyngeal dysfunction. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Facial growth and development in unilateral cleft lip and palate: comparison between secondary alveolar bone grafting and primary periosteoplasty.

PubMed

Cagáňová, Veronika; Borský, Jiří; Smahel, Zbyněk; Velemínská, Jana

2014-01-01

To describe the effect of secondary alveolar bone grafting in patients with unilateral cleft lip and palate by comparison with a sample of patients who have undergone primary periosteoplasty. Cephalometric analysis of lateral x-ray films in a retrospective semilongitudinal study. Lateral x-ray films of 18 secondary alveolar bone grafting patients and 48 primary periosteoplasty patients at 10 years of age and again at 15 years of age. The treatment of secondary alveolar bone grafting patients included lip repair according to Tennison, palatoplasty including retropositioning, pharyngeal flap surgery, and secondary alveolar bone grafting. The lips of primary periosteoplasty patient were repaired using the methods of Tennison and Veau, followed by primary periosteoplasty, palatoplasty including retropositioning, and pharyngeal flap surgery. Lateral radiographs were assessed using classical morphometry. There were few significant differences at 10 years of age between the secondary alveolar bone grafting and primary periosteoplasty patients. At 15 years of age, there were several significant differences. Compared with primary periosteoplasty patients, subsequent development in patients who had undergone secondary alveolar bone grafting was characterized by a significantly better position of the upper and lower dentoalveolar components in relation to the facial plane, a higher increase in the global convexity of the soft profile, a significantly better maxillary inclination, and a more favorable development of vertical intermaxillary relationships. Craniofacial development in secondary alveolar bone grafting patients was better than that in primary periosteoplasty patients due to the more marked facial convexity, the increased prominence of the nose, and better vertical intermaxillary relationships.

The long and winding road--the journey of a cleft lip and palate patient part 1.

PubMed

Madahar, Arun; Murray, Alison; Orr, Robert; Sandler, Paul Jonathan

2013-12-01

Patients with a cleft lip and palate (CLP) deformity require the highest standard of care that can be provided and this requires multidisciplinary care from teams located in regional cleft centres. Care of these cases is from birth to adulthood and requires several phases of intervention, corresponding to the stages of facial and dental development. Management ideally starts pre-natally, following the initial diagnosis, and occasionally pre-surgical appliances are prescribed. The lip is ideally repaired within three months, followed by palate closure between 12 and 18 months. Careful monitoring is required in the first few years and ENT referral, where necessary, will diagnose middle ear infection, which commonly affects CLP patients. Speech therapy is an integral part of the ongoing care. Excellent oral hygiene is essential and preventive dietary advice must be given and regularly reinforced. Orthodontic expansion is often needed at 9 years of age in preparation for a bone graft and, once the permanent dentition erupts, definitive orthodontic treatment will be required. Maxillary forward growth may have been constrained by scarring from previous surgery, so orthognathic correction may be required on growth completion. Final orthodontic alignment and high quality restorative care will allow the patients to have a pleasing aesthetic result. CLP patients and their families will need continuing support from medical and dental consultants, specialist nurses, health visitors, speech and language specialists and, perhaps, psychologists. These two articles outline the principles of care for the CLP patient and, secondly, illustrate this with a case report, documenting one patient's journey from birth to 21 years of age. A successful outcome for CLP patients requires a sound dentition.The general dental practitioner role is vital to establish and maintain excellent oral hygiene, a healthy diet and good routine preventive and restorative care. Understanding the total needs of CLP patients can help the dentist to provide high quality care as part of the multidisciplinary management.

Clinical and Epidemiologic Description of Orofacial Clefts in Bogota and Cali, Colombia, 2001-2015.

PubMed

Sarmiento, K; Valencia, S; Gracia, G; Hurtado-Villa, P; Zarante, I

2018-04-01

Among congenital craniofacial anomalies, orofacial clefts (OFCs) are the most common. Global prevalence is 2 in 1000 and in Colombia, 1 in 700. Our goal was to describe cleft palate (CP) prevalence and cleft lip with or without cleft palate (CL±P) from 2001 to 2015 in Bogota and Cali, Colombia. Using the ECLAMC case-control design method, information was obtained from the Congenital Anomalies Monitoring and Surveillance Programs in Bogota and Cali. We describe the prevalence of cases classified into the following groups: isolated, polymalformed, and syndromic. The proportion of cases and controls was 1:4. Data were analyzed using frequency distribution and Student t test to compare means and 95% confidence intervals (CIs). We identified 529 OFC cases and 2116 controls from 448,930 births: a rate of 11.8 per 10,000 (CI = 10.80-12.83). From the total cases, 73% were identified with CL/CP compared to 27% with CP. Males had higher CL±P (59%) prevalence, whereas the highest neonatal mortality was observed among polymalformed cases (7%). The most common anomaly identified among our cases was cleft lip without isolated cleft palate (58%). We found that OFCs are linked to birthweight, size, and gestational age and higher parity with statistically significant differences in all variables compared to controls. OFC is a highly prevalent anomaly in Colombia, with a range of maternal and infant differences across case subgroups. The identification of important OFC subgroups that follow certain patterns of prevalence may prove useful to primary and tertiary care facilities with the goal of reducing further disability.

Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease.

PubMed

Márquez-Ávila, Candy Sue; Vizcaíno-Alarcón, Alfredo; García-Delgado, Constanza; Núñez-Martínez, Paulina María; Flores-Ramírez, Francisco; Reyes-de la Rosa, Alejandra del Pilar; Mendelsberg-Fishbein, Paola; Ibarra-Grajeda, Diana; Medina-Bravo, Patricia; Balderrábano-Saucedo, Norma; Esteva-Solsona, Salvador; Márquez-Quiróz, Luz del Carmen; Flores-Cuevas, Arturo; Sánchez-Urbina, Rocío; Morales-Jiménez, Ariadna Berenice; Garibay-Nieto, Nayely; Del Bosque-Garza, Jesús; Pietropaolo-Cienfuegos, Dino; Gutiérrez-Camacho, Claudia; García-Morales, Leticia; Morán-Barroso, Verónica Fabiola

2015-11-01

Velocardiofacial syndrome (VCFS) is the most common microdeletion syndrome with an incidence of 1:4000 live births. Its phenotype is highly variable with facial, velopharyngeal, cardiac, endocrine, immunologic and psychiatric abnormalities. It is caused by a microdeletion in chromosome 22q11.2. We present 7 years of experience evaluating patients with VCFS regarding their main clinical characteristics. The patients included were multidisciplinary evaluated and had a positive FISH analysis for del22q11.2. A total of 62 patients were assessed, a 34 female/28 male ratio was observed with ages ranging from 9 days to 16 years, all but one patient had typical facial features. A diagnosis of congenital heart disease was established in 97% of the patients; other clinical characteristics were identified with different percentages such as cleft palate, and hypocalcaemia. Three cases had a familial presentation. While the clinical findings of this study were in general terms in keeping with the literature, it is interesting the unexpectedly high percentage of congenital heart disease identified in Mexican children with VCFS that also was the main cause for clinical referral. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

The evaluation and surgical management of cyclodialysis clefts that have failed to respond to conservative management

PubMed Central

Ioannidis, Alexander S; Bunce, Catey; Barton, Keith

2014-01-01

Purpose To investigate factors that may influence successful correction of hypotony in a consecutive series of patients with cyclodialysis clefts repaired surgically over a 10-year period. Design Retrospective interventional case series. Methods Interventional case series of consecutive patients with cyclodialysis clefts and hypotony treated surgically after failure of conservative treatment. Results Eighteen patients (18 eyes) of mean (SD) age 48.3 (15.8) years at the time of surgery were included (16 male, 2 female). All were diagnosed using gonioscopy, usually assisted with intracameral viscoelastic injection. Imaging used in three cases was not found to be sufficiently precise to plan surgical intervention, without prior gonioscopic cleft visualisation. The intraocular pressure (IOP) was restored in nine cases (50%) after one procedure with a postoperative IOP (mean±SD) of 13.6±4.5 mm Hg (6/11 who had cyclopexy as a first procedure and 3/6 who had cryopexy). 2–3 procedures were required in the remaining nine patients. There was a trend towards the use of cyclopexy for larger clefts and cryopexy for smaller clefts (NS). We observed a trend for a lower likelihood of successful closure of larger clefts after one intervention. Two eyes that had cyclopexy required later IOP-lowering surgery to achieve IOP control. Conclusions Most clefts were closed with one procedure. A trend towards larger cleft size as a preoperative risk factor for failure to achieve closure with one procedure was observed. In this series, imaging was not found to be sufficiently precise to replace viscoelastic-assisted gonioscopy in the diagnosis and evaluation of cyclodialysis clefts. PMID:24457370

Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.

PubMed

Lansdon, Lisa A; Darbro, Benjamin W; Petrin, Aline L; Hulstrand, Alissa M; Standley, Jennifer M; Brouillette, Rachel B; Long, Abby; Mansilla, M Adela; Cornell, Robert A; Murray, Jeffrey C; Houston, Douglas W; Manak, J Robert

2018-01-01

Orofacial clefts are one of the most common birth defects, affecting 1-2 per 1000 births, and have a complex etiology. High-resolution array-based comparative genomic hybridization has increased the ability to detect copy number variants (CNVs) that can be causative for complex diseases such as cleft lip and/or palate. Utilizing this technique on 97 nonsyndromic cleft lip and palate cases and 43 cases with cleft palate only, we identified a heterozygous deletion of Isthmin 1 in one affected case, as well as a deletion in a second case that removes putative 3' regulatory information. Isthmin 1 is a strong candidate for clefting, as it is expressed in orofacial structures derived from the first branchial arch and is also in the same "synexpression group" as fibroblast growth factor 8 and sprouty RTK signaling antagonist 1a and 2 , all of which have been associated with clefting. CNVs affecting Isthmin 1 are exceedingly rare in control populations, and Isthmin 1 scores as a likely haploinsufficiency locus. Confirming its role in craniofacial development, knockdown or clustered randomly interspaced short palindromic repeats/Cas9-generated mutation of isthmin 1 in Xenopus laevis resulted in mild to severe craniofacial dysmorphologies, with several individuals presenting with median clefts. Moreover, knockdown of isthmin 1 produced decreased expression of LIM homeobox 8 , itself a gene associated with clefting, in regions of the face that pattern the maxilla. Our study demonstrates a successful pipeline from CNV identification of a candidate gene to functional validation in a vertebrate model system, and reveals Isthmin 1 as both a new human clefting locus as well as a key craniofacial patterning gene. Copyright © 2018 by the Genetics Society of America.

Local Wound Care for Primary Cleft Lip Repair: Treatment and Outcomes With use of Topical Hydrogen Peroxide.

PubMed

Strong, Amy L; Nauta, Allison C; Kuang, Anna A

2015-12-01

This study highlights and validates a peroxide-based wound healing strategy for treatment of surgically closed facial wounds in a pediatric population. The authors identified pediatric patients undergoing primary cleft lip repair as a specific population to evaluate the outcomes of such a protocol. Through analysis of defined outcome measures, a reliable and reproducible protocol for postoperative wound care following primary cleft lip repair with favorable results is described. This retrospective study analyzes wound healing outcomes in pediatric patients undergoing primary cleft lip repair from 2006 to 2011 at a tertiary academic center. The wound healing protocol was used in both primary unilateral and bilateral repairs. One hundred fortysix patients between the ages of 0 and 4 years underwent primary cleft lip repair and cleft rhinoplasty by a single, fellowship-trained craniofacial surgeon. Postoperatively, wounds were treated with half-strength hydrogen peroxide and bacitracin, as well as scar massage. Incisional dehiscence, hypertrophic scar formation, discoloration, infection, and reoperation were studied. Outcomes were evaluated in light of parent compliance, demographics, preoperative nasoalveolar molding (PNAM), and diagnosis. The authors identified 146 patients for inclusion in this study. There was no wound or incisional dehiscence. One hundred twenty-four patients demonstrated favorable cosmetic outcome. Only 3 (2%) of patients who developed suboptimal outcomes underwent secondary surgical revision (> 1 year after surgery). Demographic differences were not statistically significant, and PNAM treatment did not influence outcomes. These data validate the use of halfstrength hydrogen peroxide and bacitracin as part of a wound healing strategy in pediatric incisional wounds. The use of hydrogen peroxide produced comparable outcomes to previously published studies utilizing other wound healing strategies and, therefore, these study findings support the further use of this regimen for this particular population.

Comprehensive surgical. Orthodontic treatment of class III malocclusion in cleft patient involving minimally invasive surgery Case report and literature review.

PubMed

Stojkovic, Goran; Stojkovic, Miodrag; Stojkovic, Jasna; Nikolic, Dejan; Stajcic, Zoran

2016-12-19

Surgical and orthodontic treatment of a teenage cleft patient. Authors describe the case of a 13 year old female cleft patient presented with class III malocclusion RESULT: The patient underwent comprehensive surgical secondary bone grafting and orthodontic treatment. Stable skeletal and occlusal class I relationship was achived and maintained in the post treatment observation period till the age of 16. Although several authors suggests primary gingivoperiosteoplasty, other advocates that such early intervention can cause later restrictions in maxillary growth. For alveolar reconstruction, maxillary growth and dental age were the main considerations in determining the timing of surgical intervention. This case showed that borderline cases of complex dentoalveolar and skeletal anomaly in cleft patients could be successfully treated with comprehensive secondary bone grafting and orthodontic treatment thus avoiding the need for orthognatic surgery. Alveolar bone grafting, Cleft, Malocclusion.

Diprosopia revisited in light of the recognized role of neural crest cells in facial development.

PubMed

Carles, D; Weichhold, W; Alberti, E M; Léger, F; Pigeau, F; Horovitz, J

1995-01-01

The aim of this study is to compare the theory of embryogenesis of the face with human diprosopia. This peculiar form of conjoined twinning is of great interest because 1) only the facial structures are duplicated and 2) almost all cases have a rather monomorphic pattern. The hypothesis is that an initial duplication of the notochord leads to two neural plates and subsequently duplicated neural crests. In those conditions, derivatives of the neural crests will be partially or totally duplicated; therefore, in diprosopia, the duplicated facial structures would be considered to be neural crest derivatives. If these structures are identical to those that are experimentally demonstrated to be neural crest derivatives in animals, these findings are an argument to apply this theory of facial embryogenesis in man. Serial horizontal sections of the face of two diprosopic fetuses (11 and 21 weeks gestation) were studied macro- and microscopically to determine the external and internal structures that are duplicated. Complete postmortem examination was performed in search for additional malformations. The face of both fetuses showed a very similar morphologic pattern with duplication of ocular, nasal, and buccal structures. The nasal fossae and the anterior part of the tongue were also duplicated, albeit the posterior part and the pharyngolaryngeal structures were unique. Additional facial clefts were present in both fetuses. Extrafacial anomalies were represented by a craniorachischisis, two fused vertebral columns and, in the older fetus, by a complex cardiac malformation morphologically identical to malformations induced by removal or grafting of additional cardiac neural crest cells in animals. These pathological findings could identify the facial structures that are neural crest derivatives in man. They are similar to those experimentally demonstrated to be neural crest derivatives in animals. In this respect, diprosopia could be considered as the end of a spectrum, whereas the other end is agnathia-holoprosencephaly complex. This assumption has to be discussed, but we want to draw attention to the fact that diprosopia must not be considered as a curious form of conjoined twinning, but as a major means of bringing us a better knowledge of the facial embryogenesis in man.

Is Routine Use of High Resolution Computerized Tomography of Temporal Bone in Patients of Atticoantral Chronic Suppurative Otitis Media without Intracranial Complications Justified?

PubMed

Bathla, Meeta; Doshi, Hiren; Kansara, Atul

2018-03-01

Role of high resolution computerized tomography (HRCT) of temporal bone is established in cases of atticoantral chronic suppurative otitis media (CSOM) with intracranial complications. Routine use of HRCT in management of patients of atticoantral CSOM without intracranial complications has been an issue of debate. The aim of this study was to evaluate the routine use of HRCT of temporal bone in such cases. This study was a prospective study done at LG hospital, AMC MET Medical College, Ahmedabad to evaluate and compare the temporal bone findings in HRCT and intraoperative findings in 100 patients with atticoantral CSOM. All patients underwent HRCT screening followed by surgical exploration of middle ear cleft. In extent of disease HRCT showed very high sensitivity and specificity for epitympanum (100, 94%) and mesotympanum (98, 98%) areas. It gave valuable information of disease extent in hidden areas like sinus tympani and facial recess of mesotympanum. HRCT satisfactorily delineated malleus and incus erosion but had 75% sensitivity for detecting erosion of stapes suprastructure, though specificity was of 97%. For bony anatomical landmarks HRCT showed very high sensitivity and specificity for detecting erosion of lateral semicircular canal, tegmen tympani and sinus plate. Detection of facial canal erosion on HRCT had moderate sensitivity of 75%. We concluded that routine use of HRCT is justified as a reliable preoperative tool in patients with atticoantral CSOM without intracranial complications and it helps to plan type of surgical intervention. HRCT has limited role to distinguish between granulations and cholesteatoma and also to delineate stapes supra structure and facial nerve canal.

Diprosopus: Systematic review and report of two cases.

PubMed

Bidondo, María Paz; Groisman, Boris; Tardivo, Agostina; Tomasoni, Fabián; Tejeiro, Verónica; Camacho, Inés; Vilas, Mariana; Liascovich, Rosa; Barbero, Pablo

2016-12-01

Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29). Diprosopus prevalence was 2 per 1,000,000 births (95% confidence interval, 0.2-6.8). In the systematic review, we identified 31 diprosopus cases. The facial structures more frequently duplicated were nose and eyes. Most frequent associated anomalies were: anencephaly, duplication of cerebral hemispheres, craniorachischisis, oral clefts, spinal abnormalities, congenital heart defects, diaphragmatic hernia, thoracic and/or abdominal visceral laterality anomalies. One of the RENAC cases and three cases from the literature had another discordant nonmalformed twin. The conjoined twins prevalence was similar to other studies. The prevalence of diprosopus was higher. The etiology is still unknown. The presence of visceral laterality anomalies may indicate the link between diprosopus and the alteration or duplication of the primitive node in the perigastrulation period (12-15 days postfertilization). Pregnancies of more than two embryos may be a risk factor for diprosopus. Given the low prevalence of this defect, it would be useful to perform studies involving several surveillance systems and international consortiums. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. Birth Defects Research (Part A) 106:993-1007, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Second branchial cleft anomaly with an ectopic tooth: a case report.

PubMed

Alyono, Jennifer C; Hong, Paul; Page, Nathan C; Malicki, Denise; Bothwell, Marcella R

2014-09-01

Branchial cleft cysts, sinuses, and fistulas are the most common congenital lateral neck lesions in children. They arise as a result of an abnormal development of the branchial arches and their corresponding ectoderm-lined branchial clefts. Of these diverse anomalies, second branchial cleft lesions are the most common, accounting for approximately 95% of all branchial arch pathologies. We describe what is to the best of our knowledge the first reported case of an ectopic tooth in a branchial cleft anomaly. The patient was a young girl who had other congenital abnormalities and syndromic features and who was eventually diagnosed with Townes-Brocks syndrome. We describe the clinical presentation, management, pathologic analysis, and postoperative outcomes of this case, and we present a brief review of Townes-Brocks syndrome.

Children with a cleft lip and palate: an exploratory study of the role of the parent-child interaction.

PubMed

Gassling, Volker; Christoph, Caroline; Wahle, Kristina; Koos, Bernd; Wiltfang, Jörg; Gerber, Wolf-Dieter; Siniatchkin, Michael

2014-09-01

Having a child with an orofacial cleft may be associated with a specific pattern of parenting. In order to investigate the parenting style, the present study assessed parent-child interactions during a problem-solving task performed under pressure. Parent-child interactions were video recorded for 15 families with a child with a cleft lip and palate (CLP), which were then compared to 20 healthy families and 20 families with a child suffering from migraines. The children had to solve a puzzle within a specified time with either their mother or father. In families with a child with CLP, mothers tried to support their children more often and children demonstrated more autonomous behaviour towards both parents than children in healthy and migraine-affected families. Moreover, the children with CLP relied less on their fathers for help and interrupted their fathers less frequently. Autonomous behaviour among children with CLP which is supported by their parents may represent psychosocial compensatory mechanisms in the family environment. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Faces in 4 dimensions: Why do we care, and why the fourth dimension?

PubMed

Trotman, Carroll-Ann

2011-12-01

The purpose of this article is to describe a dynamic approach for 3-dimensional analyses of facial soft-tissue movements. The method and analysis have numerous applications but, most specifically, are used to assess diagnostic and treatment outcomes of soft-tissue surgery in patients with repaired cleft lip and palate. Copyright © 2011 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

Atelosteogenesis type 2.

PubMed Central

Newbury-Ecob, R

1998-01-01

Atelosteogenesis type 2 (AO2) (MIM 256050) is a neonatally lethal chondrodysplasia characterised by severe limb shortening and deficient ossification of parts of the skeleton. Other features include facial dysmorphism, cleft palate, talipes, and abducted thumbs and toes. Phenotypic overlap with non-lethal diastrophic dysplasia (DTD) suggested a common aetiology and it has recently been confirmed that both syndromes result from mutations in the DTDST (diastrophic dysplasia sulphate transporter) gene. Images PMID:9475095

Maternal underweight and obesity and risk of orofacial clefts in a large international consortium of population-based studies.

PubMed

Kutbi, Hebah; Wehby, George L; Moreno Uribe, Lina M; Romitti, Paul A; Carmichael, Suzan; Shaw, Gary M; Olshan, Andrew F; DeRoo, Lisa; Rasmussen, Sonja A; Murray, Jeffrey C; Wilcox, Allen; Lie, Rolv T; Munger, Ronald G

2017-02-01

Evidence on association of maternal pre-pregnancy weight with risk of orofacial clefts is inconsistent. Six large case-control studies of orofacial clefts from Northern Europe and the USA were included in analyses pooling individual-level data. Cases included 4943 mothers of children with orofacial clefts (cleft lip only: 1135, cleft palate with cleft lip: 2081, cleft palate only: 1727) and controls included 10 592 mothers of unaffected children. Association of orofacial cleft risk with pre-pregnancy maternal weight classified by level of body mass index (BMI, kg/m 2 ) was evaluated using logistic regression adjusting for multiple covariates. Cleft palate, both alone and with cleft lip (CP+/-CL), was associated with maternal class II+ pre-pregnancy obesity (≥ 35)compared with normal weight [adjusted odds ratio (aOR) = 1.36; 95% confidence interval (CI) = 1.16, 1.58]. CP+/-CL was marginally associated with maternal underweight (aOR = 1.16; 95% CI = 0.98, 1.36). Cleft lip alone was not associated with BMI. In this largest population-based study to date, we found an increased risk of cleft palate, with or without cleft lip, in class II+ obese mothers compared with normal-weight mothers; underweight mothers may also have an increased risk, but this requires further study. These results also suggest that extremes of weight may have a specific effect on palatal development. © The Author 2016; all rights reserved. Published by Oxford University Press on behalf of the International Epidemiological Association

Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13 - implications for cytogenetics and molecular biology

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lipson, A.; Sholler, G.; Issacs, D.

We report on a female with a interstitial deletion of 10p13 and a phenotype similar to that seen with the 22q deletion syndromes (DiGeorge/velo-cardio-facial). She had a posterior cleft palate, perimembranous ventricular septal defect, dyscoordinate swallowing, T-cell subset abnormalities, small ears, maxillary and mandibular hypoplasia, broad nasal bridge, deficient alae nasi, contractures of fingers and developmental delay. This could indicate homology of some developmental genes at 22q and 10p so that patients with the velocardiofacial phenotype who do not prove to be deleted on 22q are candidates for a 10p deletion. 58 refs., 3 figs.

Xeroderma pigmentosum--Cockayne syndrome complex: a further case.

PubMed Central

Hamel, B C; Raams, A; Schuitema-Dijkstra, A R; Simons, P; van der Burgt, I; Jaspers, N G; Kleijer, W J

1996-01-01

We report on a male patient born to healthy, first cousin, Moroccan parents. During the pregnancy growth retardation was observed. Birth weight, length, and OFC were all well below the 3rd centile. Facial anomalies, microphthalmia, cleft palate, small penis, and flexion contractures of large joints were noted. Cerebral MRI showed dysmyelination. The clinical course was characterised by feeding difficulties, growth failure, lack of development, photosensitivity, and death at 7 months. The main differential diagnoses were COFS syndrome and early onset Cockayne syndrome (CS). UV exposure of cultured fibroblasts showed inhibition of nucleic acids synthesis. Further DNA repair studies showed extreme cellular sensitivity to UV and xeroderma pigmentosum (XP)-like defective nucleotide excision repair (NER), which in combination with the clinical symptoms indicated the very rare XP-CS complex. Complementation analysis showed that the XPG gene is affected in this patient. In cases suspected of having COFS syndrome and early onset CS, extensive DNA repair studies are needed to reach the definitive diagnosis, thereby allowing reliable genetic counselling and prenatal diagnosis. Images PMID:8818951

Risk factors leading to mucoperiosteal flap necrosis after primary palatoplasty in patents with cleft palate.

PubMed

Rossell-Perry, Percy; Figallo-Hudtwalcker, Olga; Vargas-Chanduvi, Roberto; Calderon-Ayvar, Yvette; Romero-Narvaez, Carolina

2017-10-01

Few studies have been published reporting risk factors for flap necrosis after primary palatoplasty in patients with cleft palate. This complication is rare, and the event is a disaster for both the patient and the surgeon. This study was performed to explore the associations between different risk factors and the development of flap necrosis after primary palatoplasty in patients with cleft palate. This is a case-control study. A 20 years retrospective analysis (1994-2015) of patients with nonsyndromic cleft palate was identified from medical records and screening day registries). Demographical and risk factor data were collected using a patient´s report, including information about age at surgery, gender, cleft palate type, and degree of severity. Odds ratios and 95% confident intervals were derived from logistic regression analysis. All cases with diagnoses of flap necrosis after primary palatoplasty were included in the study (48 patients) and 156 controls were considered. In multivariate analysis, female sex, age (older than 15 years), cleft type (bilateral and incomplete), and severe cleft palate index were associated with significantly increased risk for flap necrosis. The findings suggest that female sex, older age, cleft type (bilateral and incomplete), and severe cleft palatal index may be associated with the development of flap necrosis after primary palatoplasty in patients with cleft palate.

"Superior cleft sign" as a marker of rectus abdominus/adductor longus tear in patients with suspected sportsman's hernia.

PubMed

Murphy, Grainne; Foran, Paul; Murphy, Darra; Tobin, Oliver; Moynagh, Michael; Eustace, Stephen

2013-06-01

We describe a new imaging sign, the "superior cleft sign", identified at both symphysography and MRI, which should be used as a marker of rectus abdominis/adductor longus attachment tearing. A study population of 25 patients presenting with clinically suspected sportsman's hernia, who had undergone both symphysography and MRI of the groin were included for study. In each case, images were reviewed to determine the presence of a superior cleft, secondary cleft, and or both abnormalities. Images of all patients complaining of groin crease discomfort similar to sportsman's hernia revealed the presence of a superior cleft at the rectus abdominis/adductor longus attachment. This "superior cleft sign" correlated with the side of symptoms in each case, and, in contrast to the previously described secondary cleft along the inferior margin of the inferior pubic ramus, occurred parallel to the inferior margin of the superior pubic ramus. The presence of the "superior cleft sign" should be sought in addition to the previously described secondary cleft sign in sportspeople presenting with exercise-related groin pain or pubalgia. It should specifically be sought in patients referred with suspected sportsman's hernia.

The Effect of Happiness Training Based on Fordyce Model on Perceived Stress in the Mothers of Children with Cleft Lip and Palate.

PubMed

Hemati, Zeinab; Abbasi, Samira; Paki, Somayeh; Kiani, Davood

2017-06-01

Introduction: A child afflicted with facial deformities such as cleft lip and palate usually affects their parents, because of difficulties in nutrition, speech, aesthetics and social connections, and also imposing a lot of stress on them. The aim of this study was to investigate the effects of a happiness program on the perceived stress in the mothers of children with cleft lip and palate. Methods: This study was a quasi-experimental study in which 64 mothers of children with cleft lip and palate were divided by simple random sampling into intervention and control groups (n=64). The program of happiness training was implemented within 10 sessions and the questionnaires of demographics and Cohen perceived stress were filled out prior to and two months after the last session in intervention group. Data analysis was done using SPSS Ver.13. Results: Independent t-test indicated a significant difference in the perceived stress mean score after training in the intervention and control groups. Also paired t-test indicated a significant difference in perceived stress mean score before and after training in the intervention group, but the difference was not statistically significant for the control group. Conclusion: Considering the effect of happiness program on reducing stress in the mothers of children with cleft lip and palate, it is recommended that this model can be used as an intervention in the maternal care for more involvement in the process of treatment and care of their child, in addition to reduce psychological problems in the parents.

Proper size of endotracheal tube for cleft lip and palate patients and intubation outcomes.

PubMed

Abdollahifakhim, Shahin; Sheikhzadeh, Dariush; Shahidi, Nikzad; Nojavan, Gholamreza; Bayazian, Gholamreza; Aleshi, Hamideh

2013-05-01

The aim of the current study was to identify the proper size of endotracheal tube for intubation of cleft lip and palate patients and intubation outcomes in these patients. In this analytic cross-sectional study, 60 nonsyndromic cleft lip and palate patients were selected who had surgery between April 2010 and April 2012 at Pediatrics Hospital, Tabriz University of Medical Sciences, Iran. Demographic findings, previous admissions, and surgical history were registered. The proper tube size was measured by normal children formulas. Then tube size was confirmed by patients' minimum resistance to intubation, proper ventilation reported by anesthesiologist, and appropriate air leakage at an airway pressure of 15-20 cm H₂O. If intubation was unsuccessful then smaller size of endotracheal tube would be tried. Frequency of intubation trials and the biggest endotracheal tube size were recorded. Their average age, weight and height were 21.39 ± 4.95 months, 9.97 ± 1.18 kg and 74.30 ± 26.61 cm, respectively. The average tracheal tube size and frequency of intubation trials were 4.34 ± 0.78 and 1.63 ± 0.80, respectively. Seven cases required an endotracheal tube size smaller than the recommended size for that age including one case in unilateral cleft palate, three cases in unilateral cleft lip, one case in unilateral cleft lip and palate, and two cases in bilateral cleft lip and palate. Findings proved that considering subglottic stenosis incidence in these children, it is reasonable to determine the tube size for nonsyndromic cleft lip and palate patients by applying the currently available standards for normal children. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Oral clefting in china over the last decade: 205,679 patients.

PubMed

Kling, Rochelle R; Taub, Peter J; Ye, Xiaoqian; Jabs, Ethylin Wang

2014-10-01

China is the most populated country and has one of the highest prevalences of oral clefting. The present study reports the epidemiology and surgical procedures performed on the largest reported cohort of individuals with clefting in China. A retrospective review of patients who received cleft repair through Smile Train in China from 2000 to 2011 was conducted. Data on demographics, cleft characteristics, associated malformations, pregnancy and family history, and surgical technique were analyzed using SPSS (IBM, Chicago, Ill.). A total of 205,679 patients underwent 209,169 cleft procedures. Cleft lip and palate (42.7%) was most common followed by isolated cleft palate (32.4%) and isolated cleft lip (24.9%). Males accounted for 63.5% of cases. The average age at initial surgery was 6.12 years. By 2011, this decreased to 1.8 years of age for lip repair and to 5.9 years of age for palate repair. The preferred techniques were rotation-advancement (55%) for unilateral lip repair and Von-Langenbeck (38%) and pushback (39%) for palate repair. The percentages of cases with associated anomalies and surgical complications were 12.8% and 0.36%, respectively. This study provides insight into cleft care in China as it reports the largest cohort of cleft patients treated by surgeons to date. Our results generally follow trends previously reported in China and developed countries. The male:female ratio for cleft palate patients was higher than expected. The average age at primary repair is higher than recommended, but seems to be decreasing.

Self-concept of children and adolescents with cleft lip and/or palate.

PubMed

Leonard, B J; Brust, J D; Abrahams, G; Sielaff, B

1991-10-01

The self-concept of 105 children (8 to 11 years) and adolescents (12 to 18 years) with cleft lip and/or palate (CLP) was studied using the Piers-Harris Children's Self-Concept Scale and selected demographic and medical variables. Results indicated that most (98%) of children had average or above average self-concept scores. Further analysis, however, demonstrated an interaction between age and gender: adolescent girls experienced a more negative self-concept in comparison to younger girls and adolescent boys experienced a more positive self-concept in comparison to younger boys. In addition, popularity cluster scores for all children were below the mean for the normed population. Because children with CLP have additional difficulties (i.e., facial disfigurement, speech and language deficits, multiple surgeries), professionals should intercede to prevent or interrupt negative psychosocial outcomes, particularly for adolescent girls.

[First branchial cleft cyst in nasopharynx: a case report].

PubMed

2017-09-20

We report a rare case of first branchial cleft cyst arising from the nasopharynx. A 47-year old woman with a six-month-history of right ear stuffy and hearing loss was studied. Electronic nasopharyngeal examination revealed a mass in the nasopharynx of this case. The tumor was removed endoscopically with endonasal approach. Postoperative pathological examination indicated that it was branchial cleft cyst. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

Hereditary ectodermal dysplasia: A retrospective study

PubMed Central

More, Chandramani B.; Bhavsar, Khusbhu; Joshi, Jigar; Varma, Saurabh N.; Tailor, Mansi

2013-01-01

Background: Ectodermal dysplasia (ED) is a group of rare, inherited disorders characterized by sparse hair, missing teeth and inability to sweat. Objective: To review and analyze cases of ED with an emphasis on clinical manifestations and parent's marriage history. Methodology: The present retrospective study was conducted by assessing the clinical records of nineteen cases of ED, available in the archives of the department; for age, gender, family history of consanguineous marriage and clinical manifestations. Results: It was observed that ED was more prevalent in males, with a ratio of 1.7:1. The hypohydrotic type was more common (78.95%) than hydrotic type (21.05%). The marriage history of parents revealed that 66.67% had consanguineous marriage and had 68.42% offspring's affected with ED; whereas 33.33% had history of non-consanguineous marriage and had 31.58% offspring's affected with ED. The clinical manifestations observed were- dry skin(94.74%); scaly skin(42.11%); sparse hair on scalp, eyebrows and eyelashes(100%); frontal bossing(63.18%); saddle nose (57.89%); hypertelorism (47.37%); nail abnormality(52.63%); normal sweat glands(21.05%); abnormal sweat glands(78.95%); hypoplastic maxilla(52.63%); protuberant lips (57.89%); palmo-plantar keratosis(21.05%); wrinkled & hyper pigmented facial skin(84.21%); partial anodontia(94.74%); conical shaped teeth(84.21%); high arched palate(68.42%); thin alveolar bone(100.00%); taurodontism(21.05%) and cleft lip & cleft palate(05.26%). The number of teeth present in all the cases ranged from 0 to 19. Conclusion: ED patients suffer from social problems and poor psychological and physiological development as a result of unacceptable esthetics and abnormal function of orofacial structures. Oral rehabilitation thus becomes mandatory, although it is often difficult; particularly in pediatric patients. PMID:24082749

Results of speech improvement following simultaneous push-back together with velopharyngeal flap surgery in cleft palate patients.

PubMed

Wermker, Kai; Lünenbürger, Henning; Joos, Ulrich; Kleinheinz, Johannes; Jung, Susanne

2014-07-01

Velopharyngeal insufficiency (VPI) can be caused by a variety of disorders. The most common cause of VPI is the association with cleft palate. The aim of this study was to evaluate the effectiveness of different surgical techniques for cleft palate patients with VPI: (1) velopharyngoplasty with an inferiorly based posterior pharyngeal flap (VPP posterior, Schönborn-Rosenthal), and (2) combination of VPP posterior and push-back operation (Dorrance). 41 subjects (26 females, 15 males) with VPI were analysed. Hypernasality was judged subjectively and nasalance data were assessed objectively using the NasalView system preoperative and 6 months postoperative. Subjective analysis showed improved speech results regarding hypernasality for all OP-techniques with good results for VPP posterior and VPP posterior combined with push-back with success rates of 94.4% and 87.7%, respectively. Objective analysis showed a statistically significant reduction of nasalance for both VPP posterior and VPP posterior combined with push-back (p < 0.01). However, there were no statistically significant differences concerning measured nasalance values postoperatively between the VPP posterior and VPP posterior combined with push-back. Based on our findings, both VPP posterior and VPP posterior combined with push-back showed good results in correction of hypernasality in cleft patients with velopharyngeal insufficiency. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Treatment outcome and long-term stability of skeletal changes following maxillary distraction in adult subjects of cleft lip and palate

PubMed Central

Singh, Satinder Pal; Jena, Ashok Kumar; Rattan, Vidya; Utreja, Ashok Kumar

2012-01-01

Aim: To evaluate the treatment outcome and long-term stability of skeletal changes following maxillary advancement with distraction osteogenesis in adult subjects of cleft lip and palate. Materials and Methods: Total 12 North Indian adult patients in the age range of 17-34 years with cleft lip and palate underwent advancement of maxilla by distraction osteogenesis. Lateral cephalograms recorded prior to distraction, at the end of distraction, 6 months after distraction, and at least 24 months (mean 25.5 ± 1.94 months) after distraction osteogenesis were used for the evaluation of treatment outcome and long-term stability of the skeletal changes. Descriptive analysis, ANOVA, and post-hoc test were used, and P-value 0.05 was considered as a statistically significant level. Results: Maxillary distraction resulted in significant advancement of maxilla (P<0.001). Counterclockwise rotation of the palatal plane took place after maxillary distraction. The position of the mandible and facial heights were stable during distraction. During the first 6 months of the post-distraction period, the maxilla showed relapse of approximately 30%. However, after 6 months post distraction, the relapse was very negligible. Conclusions: Successful advancement of maxilla was achieved by distraction osteogenesis in adult subjects with cleft lip and palate. Most of the relapse occurred during the first 6 months of post-distraction period, and after that the outcomes were stable. PMID:22919221

Treatment outcome and long-term stability of skeletal changes following maxillary distraction in adult subjects of cleft lip and palate.

PubMed

Singh, Satinder Pal; Jena, Ashok Kumar; Rattan, Vidya; Utreja, Ashok Kumar

2012-04-01

To evaluate the treatment outcome and long-term stability of skeletal changes following maxillary advancement with distraction osteogenesis in adult subjects of cleft lip and palate. Total 12 North Indian adult patients in the age range of 17-34 years with cleft lip and palate underwent advancement of maxilla by distraction osteogenesis. Lateral cephalograms recorded prior to distraction, at the end of distraction, 6 months after distraction, and at least 24 months (mean 25.5 ± 1.94 months) after distraction osteogenesis were used for the evaluation of treatment outcome and long-term stability of the skeletal changes. Descriptive analysis, ANOVA, and post-hoc test were used, and P-value 0.05 was considered as a statistically significant level. Maxillary distraction resulted in significant advancement of maxilla (P<0.001). Counterclockwise rotation of the palatal plane took place after maxillary distraction. The position of the mandible and facial heights were stable during distraction. During the first 6 months of the post-distraction period, the maxilla showed relapse of approximately 30%. However, after 6 months post distraction, the relapse was very negligible. Successful advancement of maxilla was achieved by distraction osteogenesis in adult subjects with cleft lip and palate. Most of the relapse occurred during the first 6 months of post-distraction period, and after that the outcomes were stable.

Rehabilitation of a One-day-Old Neonate with Cleft Lip and Palate using Palatal Obturator: A Case Report.

PubMed

Bansal, Rajesh; Kumar Pathak, Ashish; Bhatia, Baldev; Gupta, Sailesh; Kumar Gautam, Keshav

2012-05-01

Feeding a neonate with a complete cleft lip and palate is difficult pursuit due to communication between oral cavity and nasal cavity. A multidisciplinary approach is required to manage the complex problems involved in case of such neonates and their families. Present case is of a 1-day-old neonate having complete bilateral cleft lip and palate for which palatal obturator was constructed. A stepwise simple, easy and uncomplicated procedure for making accurate impressions, maxillary cast and fabrication of palatal obturator in infants with cleft lip and palate has been presented. The objective to present this case report is to emphasize the fact that how these palatal obturators /plates help in feeding, speech/language development, presurgical orthopedics and prevent other associated otorhinolaryngeal problems. How to cite this article: Bansal R, Pathak AK, Bhatia B, Gupta S, Gautam KK. Rehabilitation of a One-day Old Neonate with Cleft Lip and Palate using Palatal Obturator: A Case Report. Int J Clin Pediatr Dent 2012;5(2):145-147.

Emotional and behavioral reactions to facially deformed patients before and after craniofacial surgery.

PubMed

Barden, R C; Ford, M E; Wilhelm, W M; Rogers-Salyer, M; Salyer, K E

1988-09-01

The present experiment investigated whether observers' emotional and behavioral reactions to facially deformed patients could be substantially improved by surgical procedures conducted by well-trained specialists in an experienced multidisciplinary team. Also investigated was the hypothesis that emotional states mediate the effects of physical attractiveness and facial deformity on social interaction. Twenty patients between the ages of 3 months and 17 years were randomly selected from over 2000 patients' files of Kenneth E. Salyer of Dallas, Texas. Patient diagnoses included facial clefts, hypertelorism, Treacher Collins syndrome, and craniofacial dysostoses (Crouzon's and Apert's syndromes). Rigorously standardized photographs of patients taken before and after surgery were shown to 22 "naive" raters ranging in age from 18 to 54 years. Raters were asked to predict their emotional and behavioral responses to the patients. These ratings indicated that observers' behavioral reactions to facially deformed children and adolescents would be more positive following craniofacial surgery. Similarly, the ratings indicated that observers' emotional reactions to these patients would be more positive following surgery. The results are discussed in terms of current sociopsychologic theoretical models for the effects of attractiveness on social interaction. A new model is presented that implicates induced emotional states as a mediating process in explaining the effects of attractiveness and facial deformity on the quality of social interactions. Limitations of the current investigation and directions for future research are also discussed.

Recognition of children on age-different images: Facial morphology and age-stable features.

PubMed

Caplova, Zuzana; Compassi, Valentina; Giancola, Silvio; Gibelli, Daniele M; Obertová, Zuzana; Poppa, Pasquale; Sala, Remo; Sforza, Chiarella; Cattaneo, Cristina

2017-07-01

The situation of missing children is one of the most emotional social issues worldwide. The search for and identification of missing children is often hampered, among others, by the fact that the facial morphology of long-term missing children changes as they grow. Nowadays, the wide coverage by surveillance systems potentially provides image material for comparisons with images of missing children that may facilitate identification. The aim of study was to identify whether facial features are stable in time and can be utilized for facial recognition by comparing facial images of children at different ages as well as to test the possible use of moles in recognition. The study was divided into two phases (1) morphological classification of facial features using an Anthropological Atlas; (2) algorithm developed in MATLAB® R2014b for assessing the use of moles as age-stable features. The assessment of facial features by Anthropological Atlases showed high mismatch percentages among observers. On average, the mismatch percentages were lower for features describing shape than for those describing size. The nose tip cleft and the chin dimple showed the best agreement between observers regarding both categorization and stability over time. Using the position of moles as a reference point for recognition of the same person on age-different images seems to be a useful method in terms of objectivity and it can be concluded that moles represent age-stable facial features that may be considered for preliminary recognition. Copyright © 2017 The Chartered Society of Forensic Sciences. Published by Elsevier B.V. All rights reserved.

Higher risk of orofacial clefts in children born to mothers with angina pectoris: a population-based case-control study.

PubMed

Czeizel, Andrew E; Vereczkey, Attila; Bánhidy, Ferenc

2015-02-01

Previously an unexpected association of maternal angina pectoris (MAP) during pregnancy with a higher risk of orofacial clefts in their children was found. There were three objectives of this study: (i) to evaluate the validity of MAP-diagnoses in the previous study and the recent history of mothers with MAP in a follow-up study; (ii) to estimate the prevalence of other congenital abnormalities in the offspring of mothers with MAP; and (iii) to analyze the possible effect of confounders for the risk of orofacial clefts. The large dataset of population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities, 1980-1996 was evaluated including 22 843 cases with congenital abnormalities and 38 151 controls without any defect. Twenty-two cases (0.10%) and 12 controls (0.03%) were born to mothers with medically recorded MAP (odds ratio [OR] with 95% confidence interval [CI]: 3.7, 1.8-7.3). Of 22 cases, six had isolated cleft lip ± palate (OR with 95% CI: 13.3, 4.9-35.9) and two were affected with isolated cleft palate (OR with 95% CI: 10.5, 2.3-47.6). The diagnosis of MAP was confirmed in seven women visited at home in 2009-2010, two had recent myocardial infarction and five were smokers. There was no higher risk for other congenital abnormalities. In conclusion the higher risk of orofacial clefts was confirmed in the children of mothers with MAP and smoking may trigger the genetic predisposition of both MAP and orofacial clefts. However, the number of cases was limited and therefore further studies are needed to confirm or reject this theoretically and practically important observation. © 2014 Japanese Teratology Society.

Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America.

PubMed

Fernandez, Nicolas; Escobar, Rebeca; Zarante, Ignacio

2016-01-01

Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing na increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies. A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011. We included children diagnosed with associated hypospadias and among them we selected those that were associated with any craniofacial congenital anomaly. Global prevalence was 11.3 per 10.000 newborns. In this population a total of 809 patients with 1117 associated anomalies were identified. On average there were 1.7 anomalies per patient. Facial anomalies were present in 13.2%. The most commonly major facial anomaly associated to hypospadias was cleft lip/palate with 52 cases. We identified that 18% have an association with other anomalies, and found an association between craniofacial anomalies and hypospadias in 0.59 cases/10.000 newborns. Hypospadias is the most common congenital anomaly affecting the genitals. Its association with other anomalies is rare. It has been reported that other malformations occur in 29.3% of the cases with hypospadias. The more proximal the meatus, the higher the risk for having another associated anomaly. Associated hypospadias are rare, and it is important to identify the concurrent occurrence of craniofacial anomalies to better treat patients that might need a multidisciplinary approach. Copyright© by the International Brazilian Journal of Urology.

Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America

PubMed Central

Fernandez, Nicolas; Escobar, Rebeca; Zarante, Ignacio

2016-01-01

ABSTRACT Introduction: Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing an increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies. Materials and Methods: A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011. We included children diagnosed with associated hypospadias and among them we selected those that were associated with any craniofacial congenital anomaly. Results: Global prevalence was 11.3 per 10.000 newborns. In this population a total of 809 patients with 1117 associated anomalies were identified. On average there were 1.7 anomalies per patient. Facial anomalies were present in 13.2%. The most commonly major facial anomaly associated to hypospadias was cleft lip/palate with 52 cases. We identified that 18% have an association with other anomalies, and found an association between craniofacial anomalies and hypospadias in 0.59 cases/10.000 newborns. Discussion: Hypospadias is the most common congenital anomaly affecting the genitals. Its association with other anomalies is rare. It has been reported that other malformations occur in 29.3% of the cases with hypospadias. The more proximal the meatus, the higher the risk for having another associated anomaly. Conclusion: Associated hypospadias are rare, and it is important to identify the concurrent occurrence of craniofacial anomalies to better treat patients that might need a multidisciplinary approach. PMID:27564292

An unusual craniofacial cleft: amniotic band syndrome as a possible cause.

PubMed

Eichhorn, Mitchell G; Iacobucci, John J; Turfe, Zaahir

2015-04-01

We report the case of a no. 4 Tessier cleft in association with an unknown cleft of the mandible extending to the external auditory meatus. This has not been previously published in the literature and its underlying pathology remains undetermined. The nature of the cleft, possible classifications, and potential embryologic origins will be discussed. Amniotic band syndrome is the most likely cause of the cleft. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Oral Clefting in China Over the Last Decade: 205,679 Patients

PubMed Central

Kling, Rochelle R.; Taub, Peter J.; Ye, Xiaoqian

2014-01-01

Background: China is the most populated country and has one of the highest prevalences of oral clefting. The present study reports the epidemiology and surgical procedures performed on the largest reported cohort of individuals with clefting in China. Methods: A retrospective review of patients who received cleft repair through Smile Train in China from 2000 to 2011 was conducted. Data on demographics, cleft characteristics, associated malformations, pregnancy and family history, and surgical technique were analyzed using SPSS (IBM, Chicago, Ill.). Results: A total of 205,679 patients underwent 209,169 cleft procedures. Cleft lip and palate (42.7%) was most common followed by isolated cleft palate (32.4%) and isolated cleft lip (24.9%). Males accounted for 63.5% of cases. The average age at initial surgery was 6.12 years. By 2011, this decreased to 1.8 years of age for lip repair and to 5.9 years of age for palate repair. The preferred techniques were rotation-advancement (55%) for unilateral lip repair and Von-Langenbeck (38%) and pushback (39%) for palate repair. The percentages of cases with associated anomalies and surgical complications were 12.8% and 0.36%, respectively. Conclusions: This study provides insight into cleft care in China as it reports the largest cohort of cleft patients treated by surgeons to date. Our results generally follow trends previously reported in China and developed countries. The male:female ratio for cleft palate patients was higher than expected. The average age at primary repair is higher than recommended, but seems to be decreasing. PMID:25426353

Patterns of Orofacial Clefting in New York City From 1983 to 2010: Trends by Racial Background, Birthplace, and Public Health Strategies.

PubMed

Butts, Sydney C; Reynolds, Simone; Gitman, Lyuba; Patel, Prayag; Joseph, Michael

2018-01-01

To determine the role of racial background, public health initiatives, and residence on the prevalence of orofacial clefts (OFCs) in New York City (NYC). Retrospective review of OFC cases from the New York State Congenital Malformations Registry. Patients born with an OFC and all live births to mothers residing in NYC between 1983 and 2010. Orofacial cleft birth prevalence by cleft type, race, and borough of maternal residence for each year and by time period around the implementation of public health interventions including folate supplementation. A total of 3557 cases were reviewed. The prevalence remained stable for cleft palate and cleft lip with or without cleft palate (CL ± P) in sequential time periods of the study. Among CL ± P cases, cleft lip prevalence decreased early in the study compared to increases in cleft lip and palate prevalence. For most years, the prevalence of OFCs was lower among African Americans than whites. A total of 12% to 26% of mothers in 4 of the NYC boroughs deliver outside of their borough of residence, choosing to give birth in Manhattan most often. No difference in OFC prevalence was shown in any of the 5 NYC boroughs. The period prevalence remained relatively stable during the time periods before and after the implementation of folate supplementation for OFCs in NYC. Prevalence of OFC subtypes was lower for most time periods during this study among African Americans compared to whites. Several factors may explain the choice of birthplace outside of the mother's borough of residence.

Demographics of cleft care providers in Africa and reported experience in training and practice: direct analysis of continent-based practitioners.

PubMed

Adetayo, Oluwaseun A; Martin, Mark C

2012-05-01

To elucidate the impact of several geographic, cultural, and socioeconomic variables on cleft care delivery in Africa, and to investigate the current status of cleft care delivery in Africa. Survey of practitioners attending the second Pan-African Congress on Cleft Lip and Palate (PACCLIP). The annual PACCLIP conference in Ibadan, Nigeria, West Africa, February 2007. To provide an analysis of the demographics and training experience of cleft care providers in Africa by collating information directly from the continent-based practitioners. Plastic surgeons and oral and maxillofacial surgeons provide the majority of cleft care. Most of the participants reported availability of formal training programs in their respective countries. The predominant practice settings were university and government-based. During training, half of the providers had encountered up to 30 cleft cases, and a quarter had managed more than 100 cases. Representation of visiting surgeons were equally distributed between African and non-African countries. This study provides initial and detailed analysis crucial to understanding the underlying framework of cleft care composition teams, demographics of providers, and training and practice experience. This awareness will further enable North American and other non-African plastic surgeons to effectively partner with African cleft care providers to have a further reaching impact in the region.

Dental anomalies associated with unilateral and bilateral cleft lip and palate.

PubMed

Qureshi, Wafa A; Beiraghi, Soraya; Leon-Salazar, Vladimir

2012-01-01

The purpose of this study was to compare the prevalence of dental anomalies in the primary and permanent dentition of patients with unilateral (UCLP) and bilateral (BCLP) cleft lip with or without palate. One hundred two complete clinical records were randomly selected for review from a university-based cleft palate clinic. Only nonsyndromic UCLP and BCLP cases were further selected for analysis of dental anomalies. The prevalence of 9 dental categories, including anomalies in number, crown structure, position, and maxillary-mandibular relationship, was assessed and compared between UCLP and BCLP cases using Fisher's exact test. Of the 102 charts evaluated, there were 67 cases of UCLP and 29 cases of BCLP for a total of 96 cases. There was a high prevalence of dental anomalies in primary and permanent teeth; 93% of UCLP cases and 96% of BCLP cases presented with at least 1 dental anomaly. Significant differences ( P <.05) were only found in the prevalence of anodontia of a single tooth (UCLP=39%, BCLP=14%), multiple anodontia (UCLP=22%, BCLP=54%), and anterior malocclusion (UCLP=15%, BCLP=41%). There is a high prevalence of dental anomalies associated with orofacial clefts regardless of whether they are unilateral or bilateral cleft lip with or without palate.

The Public Recognizes Plastic Surgeons as Leading Experts in the Treatment of Congenital Cleft and Craniofacial Anomalies.

PubMed

Denadai, Rafael; Samartine Junior, Hugo; Denadai, Rodrigo; Raposo-Amaral, Cassio Eduardo

2015-11-01

The aim of this study is to assess the public perception of plastic surgeons (PS) as craniofacial surgery specialists. Members of the public (N = 1514) were asked to choose 1 or 2 specialists that they perceived to be an expert for 13 craniofacial surgery-related scenarios. Response patterns were distributed as "plastic surgeon alone" (PS alone), "PS combined with other specialists", or "no plastic surgeon" (No PS). Sociodemographic data, previous plastic surgery contact, and source of reported information were also collected. "Plastic surgeon alone" was significantly (all P < 0.05) more recognized as experts than all other response patterns particularly in congenital anomalies-related scenarios (83.33%). There was a significantly (all P < 0.05) poor understanding of the role of PSs in head/neck infection management, chronic facial palsy management, dental disease management, head and neck cancer surgery, vascular malformation surgery, and facial fracture surgery. Sex, age, education level, health care professional, prior plastic surgery contact, and source of reported information were not significant (all P < 0.05) determinants of "PS" as the response in bivariate and multivariate analyses. Public recognized PSs as experts primarily in treatment of congenital cleft and craniofacial anomalies, but as the overall scope of craniofacial surgery practice was poorly understood and known, improved public education is needed.

Contributions of PTCH Gene Variants to Isolated Cleft Lip and Palate

PubMed Central

Mansilla, M.A.; Cooper, M.E.; Goldstein, T.; Castilla, E.E.; Camelo, J.S. Lopez; Marazita, M.L.; Murray, J.C.

2007-01-01

Objective Mutations in patched (PTCH) cause the nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome. Nevoid basal cell carcinoma syndrome may present with developmental anomalies, including rib and craniofacial abnormalities, and predisposes to several tumor types, including basal cell carcinoma and medulloblastoma. Cleft palate is found in 4% of individuals with nevoid basal cell carcinoma syndrome. Because there might be specific sequence alterations in PTCH that limit expression to orofacial clefting, a genetic study of PTCH was undertaken in cases with cleft lip and/or palate (CL/P) known not to have nevoid basal cell carcinoma syndrome. Results Seven new normal variants spread along the entire gene and three missense mutations were found among cases with cleft lip and/or palate. One of these variants (P295S) was not found in any of 1188 control samples. A second variant was found in a case and also in 1 of 1119 controls. The third missense (S827G) was found in 5 of 1369 cases and in 5 of 1104 controls and is likely a rare normal variant. Linkage and linkage desequilibrium also was assessed using normal variants in and adjacent to the PTCH gene in 220 families (1776 individuals), each with two or more individuals with isolated clefting. Although no statistically significant evidence of linkage (multipoint HLOD peak = 2.36) was uncovered, there was borderline evidence of significant transmission distortion for one haplotype of two single nucleotide polymorphisms located within the PTCH gene (p = .08). Conclusion Missense mutations in PTCH may be rare causes of isolated cleft lip and/or palate. An as yet unidentified variant near PTCH may act as a modifier of cleft lip and/or palate. PMID:16405370

Maxillary segmental distraction in children with unilateral clefts of lip, palate, and alveolus.

PubMed

Zemann, Wolfgang; Pichelmayer, Margit

2011-06-01

Alveolar clefts are commonly closed by a bone grafting procedure. In cases of wide clefts the deficiency of soft tissue in the cleft area may lead to wound dehiscence and loss of the bony graft. Segmental maxillary bony transfer has been mentioned to be useful in such cases. Standard distraction devices allow unidirectional movement of the transported segment. Ideally the distraction should strictly follow the dental arch. The aim of this study was to analyze distraction devices that were adapted to the individual clinical situation of the patients. The goal was to achieve a distraction strictly parallel to the dental arch. Six children with unilateral clefts of lip, palate, and alveolus between 12 and 13 years of age were included in the study. The width of the cleft was between 7 and 19 mm. Dental cast models were used to manufacture individual distraction devices that should allow a segmental bony transport strictly parallel to the dental arch. Segmental osteotomy was performed under general anesthesia. Distraction was started 5 days after surgery. All distracters were tooth fixed but supported by palatal inserted orthodontic miniscrews. In all patients, a closure of the alveolar cleft was achieved. Two patients required additional bone grafting after the distraction procedure. The distraction was strictly parallel to the dental arch in all cases. In 1 case a slight cranial displacement of the transported maxillary segment could be noticed, leading to minor modifications of the following distractors. Distraction osteogenesis is a proper method to close wide alveolar clefts. Linear segmental transport is required in the posterior part of the dental arch, whereas in the frontal part the bony transport should run strictly parallel to the dental arch. An exact guided segmental transport may reduce the postoperative orthodontic complexity. Copyright © 2011 Mosby, Inc. All rights reserved.

Ankyloglossia with cleft lip: A rare case report

PubMed Central

Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

2015-01-01

Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

PubMed

Yu, Andrea C; Zambrano, Regina M; Cristian, Ingrid; Price, Sue; Bernhard, Birgitta; Zucker, Marc; Venkateswaran, Sunita; McGowan-Jordan, Jean; Armour, Christine M

2017-06-01

Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows. Additional variable features amongst the patients included microcephaly, metopic ridging or craniosynostosis, cleft palate, cardiac defects, and mild hypotonia. Although the patients' deletions varied in size, there was a 0.47 Mb region of overlap which contained 7 OMIM genes: EIP3B, CHST12, LFNG, BRAT1, TTYH3, AMZ1, and GNA12. We propose that monosomy of this region represents a novel microdeletion syndrome. We recommend that individuals with 7p22.3p22.2 deletions should receive a developmental assessment and a thorough cardiac exam, with consideration of an echocardiogram, as part of their initial evaluation. © 2017 Wiley Periodicals, Inc.

Teratogenic effects of Mimosa tenuiflora in a rat model and possible role of N-methyl- and N,N-dimethyltryptamine.

PubMed

Gardner, Dale; Riet-Correa, Franklin; Lemos, Danilo; Welch, Kevin; Pfister, James; Panter, Kip

2014-07-30

Mimosa tenuiflora is a shrub/tree found in northeastern Brazil sometimes eaten by livestock and believed to be responsible for malformations observed in many animals from that region. The teratogenic compounds in M. tenuiflora are not known. This study used pregnant rats fed M. tenuiflora and components therefrom for bioassay and fractionation of possible teratogenic compounds. Rat pups were examined for cranial-facial defects and skeletal malformations. Experimental diets included M. tenuiflora leaf and seed material, extracts of leaf and seed, alkaloid extracts of leaf and seed, and N-methyltryptamine and N,N-dimethyltryptamine. Pups from mothers who received M. tenuiflora plant material, methanol extracts, alkaloid extracts, and purified N-methyltryptamines had a higher incidence of soft tissue cleft palate and skeletal malformations. Results are summarized as to the frequency of observed cleft palate and other noted malformations for each diet versus control.

Multidisciplinary management of a patient with van der Woude syndrome: A case report.

PubMed

Tehranchi, Azita; Behnia, Hossein; Nadjmi, Nasser; Yassaee, Vahid Reza; Ravesh, Zeinab; Mina, Morteza

2017-01-01

Van der Woude syndrome (VWS) is the most frequent form of syndromic cleft lip and palate (SCLP) accounting for 2% of all patients with CLP. We describe the orthodontic treatment of a girl diagnosed with VWS referred by her family dentist for her cosmetic concerns. Comprehensive orthodontic treatment, secondary bone graft, distraction osteogenesis (for a deficient maxilla), secondary palatoplasty and excision of lower lip pits, as well as orthodontic and prosthetic procedures may provide a satisfactory outcome. Genetic testing showed a known putative splice site mutation (c.174+1G/A) as the prime cause of VWS in our patient and her family. SCLP has significant effects on facial aesthetics and the psychosocial status. Parents should be assessed and counseled appropriately. This condition is treatable in the absence of life threatening systemic anomalies. An interdisciplinary team approach is advocated. Copyright © 2016 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity.

PubMed

Jung, C; Sohn, C; Sergi, C

1998-04-01

Routine prenatal ultrasound of a massively obese mother at 21 weeks of gestation revealed short-limb dwarfism in the fetus. The proportionate shortening of tubular bones of about 50 per cent of the normal length, the absence of thoracic dysplasia, and a normal head circumference narrowed the diagnosis down to a severe but non-lethal skeletal dysplasia. Ulnar deviation of the hands and talipes made diastrophic dysplasia the most likely differential diagnosis. At post-mortem clinical examination, the diagnosis of diastrophic dysplasia was clearly apparent due to highly specific 'hitch-hiker thumbs', similarly luxated big toes, facial dysmorphism, and a cleft palate. Retrospective re-evaluation of the prenatal ultrasound videos revealed the misplaced thumbs, which together with the ulnar deviation of the wrist and suspected talipes, led to the conclusion that the definitive diagnosis can be established prenatally, even in a mother with massive obesity.

Oral findings and dental treatment in a patient with Dandy-Walker syndrome: a case report.

PubMed

Kusumoto, Yasuka; Shinozuka, Osamu

2014-01-01

Dandy-Walker syndrome (DWS) is congenital disease characterized by hypoplasia of the cerebellum, the formation of cysts that communicate with the fourth ventricle of the posterior cranial fossa, and hydrocephalus. In addition to various other complications, cleft lip/palate, facial retrognathia, a high-arched palate, and maldentition occur at an increased frequency in patients with DWS. However, few studies have reported the dental manifestations of DWS. Herein, we report the clinical manifestations, oral findings, and dental management of a DWS patient who was treated under general anesthesia. Poor oral hygiene, gingivitis, and several congenital dental abnormalities (e.g., generalized microdontia, conical tooth, transposition, and congenitally missing teeth) were observed. This report is the first to describe the oral findings and dental treatment of DWS. Our findings emphasize the importance of a multidisciplinary approach in the diagnosis and treatment of DWS. © 2013 Special Care Dentistry Association and Wiley Periodicals, Inc.

Tobacco smoking and oral clefts: a meta-analysis.

PubMed Central

Little, Julian; Cardy, Amanda; Munger, Ronald G.

2004-01-01

OBJECTIVE: To examine the association between maternal smoking and non-syndromic orofacial clefts in infants. METHODS: A meta-analysis of the association between maternal smoking during pregnancy was carried out using data from 24 case-control and cohort studies. FINDINGS: Consistent, moderate and statistically significant associations were found between maternal smoking and cleft lip, with or without cleft palate (relative risk 1.34, 95% confidence interval 1.25-1.44) and between maternal smoking and cleft palate (relative risk 1.22, 95% confidence interval 1.10-1.35). There was evidence of a modest dose-response effect for cleft lip with or without cleft palate. CONCLUSION: The evidence of an association between maternal tobacco smoking and orofacial clefts is strong enough to justify its use in anti-smoking campaigns. PMID:15112010

Bone morphogenetic protein type I receptor inhibition induces cleft palate associated with micrognathia and cleft lower lip in mice.

PubMed

Lai, Yongzhen; Xie, Changfu; Zhang, Shixian; Gan, Guowu; Wu, Di; Chen, Weihui

2016-07-01

Gain-of- and loss-of-function studies have demonstrated that changes in bone morphogenetic protein (BMP) signaling during embryo development cause craniofacial malformations, including cleft palate. It remains uncertain whether BMP signaling could be targeted pharmacologically to affect craniofacial morphogenesis. Pregnant C57Bl/6J mice were treated with the BMP type I receptor inhibitor LDN-193189 at the dose of 3, 6, or 9 mg/kg twice a day by intraperitoneal injection from embryonic day 10.5 (E10.5) to E15.5. At E16.5, embryos were investigated by facial measurement analysis and histology to determine the optimal concentration for malformation. Subsequent embryonic phenotypes were analyzed in detail by histology, whole-mount skeletal staining, micro-computed tomography, and palatal organic culture. We further used immunohistochemistry to analyze protein expression of the BMP-mediated canonical and noncanonical signaling components. The optimal concentration of LDN-193189 was determined to be 6 mg/kg. In utero, LDN-193189 exposures induced partial clefting of the anterior palate or complete cleft palate, which was attributed to a reduced cell proliferation rate in the secondary palate, and delayed palatal elevation caused by micrognathia. Analysis of signal transduction in palatal shelves at E12.5 and E13.5 identified a significant reduction of BMP/Smad signaling (p-Smad1/5/8) and unchanged BMP noncanonical signaling (p-p38, p-Erk1/2) after treatment with LDN-193189. The results of this study indicate that LDN-193189 can be used to manipulate BMP signaling by selectively targeting the BMP/Smad signaling pathway to affect palatal morphogenesis and produce phenotypes mimicking those caused by genetic mutations. This work established a novel mouse model for teratogen-induced cleft palate. Birth Defects Research (Part A) 106:612-623, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

A New Device for Alveolar Bone Transportation

PubMed Central

Vega, Omar; Pérez, Daniel; Páramo, Viviana; Falcón, Jocelyn

2011-01-01

We present a retrospective review of a new technique for the transportation of alveolar bone using a Hyrax device modified by the principal author (O.A.V.). There were seven patients (five males and two females), including five patients with cleft palate and lip diagnosis, one patient with a high-speed gunshot wound, and one patient with facial trauma sequel due to mandibular fracture. They were all treated with an alveolar bone transportation technique (ABT) through the use of the modified Hyrax device (VEGAX). Before surgery, distraction osteogenesis of the bifocal type was performed on four patients, and the trifocal type was performed on the other three patients. However, in one case, direct dental anchorage was not used, only orthodontic appliances. In all the cases, new bone formation and gingival tissue around the defect were obtained, posterior to the alveolar distraction process; no complications were observed in any patient. In one case, two teeth involved in the disk of the ABT were extracted, due to a previous condition of periodontal disease. The alveolar bone transport with the VEGAX device is an accessible technique for almost every patient with alveolar defects due to diverse causes. In all the presented cases, predictability and success were demonstrated. PMID:22655120

Advancement of the anterior maxilla by distraction (case report).

PubMed

Karakasis, Dimitri; Hadjipetrou, Loucia

2004-06-01

Several techniques of distraction osteogenesis have been applied for the correction of compromised midface in patients with clefts of the lip, alveolus and palate. This article presents a technique of callus distraction applied in a specific case of hypoplasia of a cleft maxilla with the sagittal advancement of the maxilla thus not affecting velopharyngeal function. The decision to apply distraction osteogenesis for advancement of the anterior maxillary segment in cleft patients offers many advantages.

Maternal Risk Factors Associated with the Development of Cleft Lip and Cleft Palate in Mexico: A Case-Control Study.

PubMed

Angulo-Castro, Emmanuel; Acosta-Alfaro, Luis F; Guadron-Llanos, Alma M; Canizalez-Román, Adrian; Gonzalez-Ibarra, Fernando; Osuna-Ramírez, Ignacio; Murillo-Llanes, Joel

2017-07-01

Cleft lip and palate, the most common developmental deformity, is seen worldwide and the etiology involves a combination of genetic and environmental factors. The purpose of this study was to determine the maternal risk factors associated with the development of cleft lip and cleft palate. We conducted a case control study at the Women's Hospital in Culiacan, Mexico. Medical records were analyzed, including patients who delivered babies with and without cleft lip and cleft palate from January 2010 to December 2015. Multiple variables were analyzed, including gestational age, weight at birth, the use of folic acid and multivitamins during pregnancy, smoking, alcohol abuse, the use of recreational drugs, history of sexually transmitted infections, marital status, socioeconomic status, education, and nutritional status. We found that the maternal risk factors with the strongest association for the development of cleft lip and cleft palate were the following: patients who were not taking folic acid during pregnancy [OR 3.27, 95% CI 1.32-8.09], P=0.00; patients who were not taking vitamin supplementation during pregnancy [OR 2.6, 95% CI 1.19-7.27], P=0.02; smoking during pregnancy [OR 2.05, 95% CI 1.23-3.41], P=0.01; and alcohol abuse during pregnancy [OR 1.90, 95% CI 1.17-3.08], P=0.03. The main risk factors associated with the development of cleft lip and cleft palate in a Mexican population at the Women's hospital in Culiacan, Sinaloa, Mexico were smoking, alcohol abuse, and patients not taking folic acid and multivitamins during pregnancy.

Fluconazole use and birth defects in the National Birth Defects Prevention Study.

PubMed

Howley, Meredith M; Carter, Tonia C; Browne, Marilyn L; Romitti, Paul A; Cunniff, Christopher M; Druschel, Charlotte M

2016-05-01

Low-dose fluconazole is used commonly to treat vulvovaginal candidiasis, a condition occurring frequently during pregnancy. Conflicting information exists on the association between low-dose fluconazole use among pregnant women and the risk of major birth defects. We used data from the National Birth Defects Prevention Study to examine this association. The National Birth Defects Prevention Study is a multisite, population-based, case-control study that includes pregnancies with estimated delivery dates from 1997 to 2011. Information on fluconazole use in early pregnancy was collected by self-report from 31,645 mothers of birth defect cases and 11,612 mothers of unaffected controls. Adjusted odds ratios and 95% confidence intervals were estimated for birth defects with 5 or more exposed cases; crude odds ratios and exact 95% confidence intervals were estimated for birth defects with 3-4 exposed cases. Of the 43,257 mothers analyzed, 44 case mothers and 6 control mothers reported using fluconazole. Six exposed infants had cleft lip with cleft palate, 4 had an atrial septal defect, and each of the following defects had 3 exposed cases: hypospadias, tetralogy of Fallot, d-transposition of the great arteries, and pulmonary valve stenosis. Fluconazole use was associated with cleft lip with cleft palate (odds ratio = 5.53; confidence interval = 1.68-18.24) and d-transposition of the great arteries (odds ratio = 7.56; confidence interval = 1.22-35.45). The associations between fluconazole and both cleft lip with cleft palate and d-transposition of the great arteries are consistent with earlier published case reports but not recent epidemiologic studies. Despite the larger sample size of the National Birth Defects Prevention Study, fluconazole use was rare. Further investigation is needed in large studies, with particular emphasis on oral clefts and conotruncal heart defects. Copyright © 2016 Elsevier Inc. All rights reserved.

Association Between Genes Involved in Craniofacial Development and Nonsyndromic Cleft Lip and/or Palate in the Brazilian Population.

PubMed

Machado, Renato Assis; Messetti, Ana Camila; de Aquino, Sibele Nascimento; Martelli-Júnior, Hercílio; Swerts, Mário Sérgio Oliveira; de Almeida Reis, Silvia Regina; Moreira, Helenara Salvati Bertolossi; Persuhn, Darlene Camati; Coletta, Ricardo D

2016-09-01

To determine the association of single-nucleotide polymorphisms (SNPs) in genes related to craniofacial development, which were previously identified as susceptibility signals for nonsyndromic oral clefts, in Brazilians with nonsyndromic cleft lip and/or palate (NSCL/P). The SNPs rs748044 (TNP1), rs1106514 (MSX1), rs28372960, rs15251 and rs2569062 (TCOF1), rs7829058 (FGFR1), rs1793949 (COL2A1), rs11653738 (WNT3), and rs242082 (TIMP3) were assessed in a family-based transmission disequilibrium test (TDT) and a structured case-control analysis based on the individual ancestry proportions. The SNPs were initially analyzed by TDT, and polymorphisms showing a trend toward excess transmission were subsequently studied in an independent case-control sample. The study sample consisted of 189 case-parent trios of nonsyndromic cleft lip with or without cleft palate (NSCL±P), 107 case-parent trios of nonsyndromic cleft palate (NSCP), 318 isolated samples of NSCL±P, 189 isolated samples of NSCP, and 599 healthy controls. Association of alleles with NSCL/P pathogenesis. Preferential transmission of SNPs rs28372960 and rs7829058 in NSCL±P trios and rs11653738 in NSCP trios (P = .04) were observed, although the structured case-control analysis did not confirm these associations. The haplotype T-C-C formed by TCOF1 SNPs rs28372960, rs15251, and rs2569062 was more frequently transmitted from healthy parents to NSCL±P offspring, but the P value (P = .01) did not withstand Bonferroni correction for multiple tests. With the modest associations, our results do not support the hypothesis that TNP1, MSX1, TCOF1, FGFR1, COL2A1, WNT3, and TIMP3 variants are risk factors for nonsyndromic oral clefts in the Brazilian population.

Ectrodactyly, Ectodermal dysplasia, and Cleft Lip-Palate Syndrome; Its Association with Conductive Hearing Loss

ERIC Educational Resources Information Center

Robinson, Geoffrey C.; And Others

1973-01-01

Conductive hearing loss associated with the ectrodactyly, ectodermal dysplasia, and cleft lip palate syndrome was reported in one sporadic case and in a pedigree with four cases in three generations. (GW)

Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hecht, J.T.; Yaping Wang; Connor, B.

1993-06-01

Nonsyndromic cleft lip with or without cleft palate (CLP) is a common craniofacial anomaly, the etiology of which is not known. Population studies have shown that a large proportion of cases occur sporadically. Recently, segregation analyses applied to CLP families have demonstrated that an autosomal dominant/codominant gene(s) may cause clefting in cases. Associations of autosomal dominant CLP and nonsyndromic cleft palate (CP) with HLA and F13A genes on chromosome 6p have been suggested previously. Linkage to these two areas on chromosome 6p were tested in 12 autosomal dominant families with CLP. With a LOD score of [minus]2 or less formore » exclusion, no evidence of linkage was found to four chromosome 6p markers. Multipoint analysis showed no evidence of a clefting locus in this region spanning 54 cM on chromosome 6p in these CLP families. 30 refs., 2 figs., 1 tab.« less

Comparison of two- and three-dimensional assessment methods of nasolabial appearance in cleft lip and palate patients: Do the assessment methods measure the same outcome?

PubMed

Mosmuller, David G M; Maal, Thomas J; Prahl, Charlotte; Tan, Robin A; Mulder, Frans J; Schwirtz, Roderic M F; de Vet, Henrica C W; Bergé, Stefaan J; Don Griot, J P W

2017-08-01

For the assessment of the nasolabial appearance in cleft patients, a widely accepted, reliable scoring system is not available. In this study four different methods of assessment are compared, including 2D and 3D asymmetry and aesthetic assessments. The data and ratings from an earlier study using the Asher-McDade aesthetic index on 3D photographs and the outcomes of 3D facial distance mapping were compared to a 2D aesthetic assessment, the Cleft Aesthetic Rating Scale, and to SymNose, a computerized 2D asymmetry assessment technique. The reliability and correlation between the four assessment techniques were tested using a sample of 79 patients. The 3D asymmetry assessment had the highest reliability and could be performed by just one observer (Intraclass correlation coefficient (ICC): 0.99). The 2D asymmetry assessment of the nose was highly reliable when performed by just one observer (ICC: 0.89). However, for the 2D asymmetry assessment of the lip more observers were needed. For the 2D aesthetic assessments 3 observers were needed. The 3D aesthetic assessment had the lowest single-observer reliability (ICC: 0.38-0.56) of all four techniques. The agreement between the different assessment methods is poor to very poor. The highest correlation (R: 0.48) was found between 2D and 3D aesthetic assessments. Remarkably, the lowest correlations were found between 2D and 3D asymmetry assessments (0.08-0.17). Different assessment methods are not in agreement and seem to measure different nasolabial aspects. More research is needed to establish exactly what each assessment technique measures and which measurements or outcomes are relevant for the patients. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

The use and reliability of SymNose for quantitative measurement of the nose and lip in unilateral cleft lip and palate patients.

PubMed

Mosmuller, David; Tan, Robin; Mulder, Frans; Bachour, Yara; de Vet, Henrica; Don Griot, Peter

2016-10-01

It is essential to have a reliable assessment method in order to compare the results of cleft lip and palate surgery. In this study the computer-based program SymNose, a method for quantitative assessment of the nose and lip, will be assessed on usability and reliability. The symmetry of the nose and lip was measured twice in 50 six-year-old complete and incomplete unilateral cleft lip and palate patients by four observers. For the frontal view the asymmetry level of the nose and upper lip were evaluated and for the basal view the asymmetry level of the nose and nostrils were evaluated. A mean inter-observer reliability when tracing each image once or twice was 0.70 and 0.75, respectively. Tracing the photographs with 2 observers and 4 observers gave a mean inter-observer score of 0.86 and 0.92, respectively. The mean intra-observer reliability varied between 0.80 and 0.84. SymNose is a practical and reliable tool for the retrospective assessment of large caseloads of 2D photographs of cleft patients for research purposes. Moderate to high single inter-observer reliability was found. For future research with SymNose reliable outcomes can be achieved by using the average outcomes of single tracings of two observers. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Evaluation of 5-year-old children with complete cleft lip and palate: Multicenter study. Part 2: Functional results.

PubMed

Dissaux, Caroline; Grollemund, Bruno; Bodin, Frédéric; Picard, Arnaud; Vazquez, Marie-Paule; Morand, Béatrice; James, Isabelle; Kauffmann, Isabelle; Bruant-Rodier, Catherine

2016-02-01

Cleft surgery is marked by all the controversies and the multiplication of protocols, as it has been shown by the Eurocleft study. The objective of this pilot study is to start a comparison and analyzing procedure between primary surgical protocols in French centers. Four French centers with different primary surgical protocols for cleft lip and palate repair, have accepted to be involved in this retrospective study. In each center, 20 consecutive patients with complete cleft lip and palate (10 UCLP, 10 BCLP per center), non syndromic, have been evaluated at a mean age of 5 [range, 4-6]. In this second part, maxillary growth and palatine morphology were assessed on clinical examination and on dental casts (Goslon score). Speech was also evaluated clinically (Borel-maisonny classification) and by Aerophonoscope. Veau-Wardill-Killner palatoplasty involves a higher rate of transversal maxillary deficiency and retromaxillary. The fistula rate is statistically lower with tibial periosteum graft hard palate closure but this technique seems to give retromaxillary. Malek and Talmant two-stage-palatoplasty techniques reach Goslon scores of 1 or 2. Considering speech, Sommerlad intravelar veloplasty got higher outcomes. Primary results. Extension to other centers required. The two-stage palatoplasty, including a Sommerlad intravelar veloplasty seems to have the less negative impact on maxillary growth, and to give good speech outcomes. Therapeutic study. Level III/retrospective multicenter comparative study. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Centralisation of services for children with cleft lip or palate in England: a study of hospital episode statistics

PubMed Central

2012-01-01

Background In 1998, a process of centralisation was initiated for services for children born with a cleft lip or palate in the UK. We studied the timing of this process in England according to its impact on the number of hospitals and surgeons involved in primary surgical repairs. Methods All live born patients with a cleft lip and/or palate born between April 1997 and December 2008 were identified in Hospital Episode Statistics, the database of admissions to English National Health Service hospitals. Children were included if they had diagnostic codes for a cleft as well as procedure codes for a primary surgical cleft repair. Children with codes indicating additional congenital anomalies or syndromes were excluded as their additional problems could have determined when and where they were treated. Results We identified 10,892 children with a cleft. 21.0% were excluded because of additional anomalies or syndromes. Of the remaining 8,606 patients, 30.4% had a surgical lip repair only, 41.7% a palate repair only, and 28.0% both a lip and palate repair. The number of hospitals that carried out these primary repairs reduced from 49 in 1997 to 13, with 11 of these performing repairs on at least 40 children born in 2008. The number of surgeons responsible for repairs reduced from 98 to 26, with 22 performing repairs on at least 20 children born in 2008. In the same period, average length of hospital stay reduced from 3.8 to 3.0 days for primary lip repairs, from 3.8 to 3.3 days for primary palate repairs, and from 4.6 to 2.6 days for combined repairs with no evidence for a change in emergency readmission rates. The speed of centralisation varied with the earliest of the nine regions completing it in 2001 and the last in 2007. Conclusions Between 1998 and 2007, cleft services in England were centralised. According to a survey among patients’ parents, the quality of cleft care improved in the same period. Surgical care became more consistent with current recommendations. However, key outcomes, including facial appearance and speech, can only be assessed many years after the initial surgical treatment. PMID:22682355

The clinical and economic impact of a sustained program in global plastic surgery: valuing cleft care in resource-poor settings.

PubMed

Hughes, Christopher D; Babigian, Alan; McCormack, Susan; Alkire, Blake C; Wong, Anselm; Pap, Stephen A; Vincent, Jeffrey R; Meara, John G; Castiglione, Charles; Silverman, Richard

2012-07-01

The development of surgery in low- and middle-income countries has been limited by a belief that it is too expensive to be sustainable. However, subspecialist surgical care can provide substantial clinical and economic benefits in low-resource settings. The goal of this study is to describe the clinical and economic impact of recurrent short-term plastic surgical trips in low- and middle-income countries. The authors conducted a retrospective review of clinic and operative logbooks from Hands Across the World's surgical experience in Ecuador. The authors calculated the disability-adjusted life-years averted to estimate the clinical impact of cleft repair and then calculated the economic impact of surgical intervention for cleft disease. One thousand one hundred forty-two reconstructive surgical cases were performed over 15 years. Surgery was most commonly performed for scar contractures [449 cases (39.3 percent)], of which burn scars comprised a substantial amount [215 cases (18.8 percent)]. There were 40 postoperative complications within 7 days of operation (3.5 percent), and partial wound dehiscence was the most common complication [16 of 40 (40 percent)]. Cleft disorders constituted 277 cases (24.3 percent), and 102 cases were primary cleft lip and/or palate cases. Between 396 and 1042 total disability-adjusted life-years were averted through surgery for these 102 cases of primary cleft repair. This translates to an economic benefit between $4.7 million (human capital approach) and $27.5 million (value of a statistical life approach). Plastic surgical disease is a significant source of morbidity for patients in resource-limited regions. Dedicated programs that provide essential reconstructive surgery can produce substantial clinical and economic benefits to host countries.

Prevalence of dental anomalies in patients with cleft lip and palate.

PubMed

Eslami, Neda; Majidi, Mohammad Reza; Aliakbarian, Majid; Hasanzadeh, Nadia

2013-09-01

The aim of the present study was to investigate the prevalence of dental anomalies in a group of patients with cleft lip and palate (CL/P) in the northeast of Iran. Ninety-one patients referring to the Cleft Lip and Palate Clinic of Mashhad Dental School were enrolled and classified into right CL/P, left CL/P, and bilateral CL/P groups. Photographs, dental casts, and panoramic and periapical radiographs were retrieved, and dental anomalies were recorded. χ test was used to analyze the frequency of dental anomalies according to type of cleft and sex. Missing maxillary lateral incisors was the most frequent dental anomaly, which was slightly higher in the bilateral group (61.1%). There were significantly more cases of missing lateral incisors outside the cleft area in right CL/P (P = 0.015). Peg lateral incisors were observed in 33.3% of bilateral CL/P compared with 28% of right and 23.3% of left unilateral cases. The sample presented rotations of central incisors in the cleft area in 33.3% of bilateral clefts. In unilateral clefts, it occurred more frequently in the right side (48%). Sexual dimorphism appeared only for maxillary central incisor rotation in the cleft area, which showed significantly greater frequency in females (P = 0.025). Transposition of maxillary canine and first premolars was found in 5.5% of bilateral, 8% of right, and 3.3% of left unilateral clefts. The prevalence of dental anomalies in the studied sample seems to be higher than that reported in the normal population. More anomalies were observed at the cleft side. The frequency of most anomalies was not significantly different between the 2 sexes.

Maternal Risk Factors Associated with the Development of Cleft Lip and Cleft Palate in Mexico: A Case-Control Study

PubMed Central

Angulo-Castro, Emmanuel; Acosta-Alfaro, Luis F; Guadron-Llanos, Alma M; Canizalez-Román, Adrian; Gonzalez-Ibarra, Fernando; Osuna-Ramírez, Ignacio; Murillo-Llanes, Joel

2017-01-01

Introduction: Cleft lip and palate, the most common developmental deformity, is seen worldwide and the etiology involves a combination of genetic and environmental factors. The purpose of this study was to determine the maternal risk factors associated with the development of cleft lip and cleft palate. Materials and Methods: We conducted a case control study at the Women’s Hospital in Culiacan, Mexico. Medical records were analyzed, including patients who delivered babies with and without cleft lip and cleft palate from January 2010 to December 2015. Multiple variables were analyzed, including gestational age, weight at birth, the use of folic acid and multivitamins during pregnancy, smoking, alcohol abuse, the use of recreational drugs, history of sexually transmitted infections, marital status, socioeconomic status, education, and nutritional status. Results: We found that the maternal risk factors with the strongest association for the development of cleft lip and cleft palate were the following: patients who were not taking folic acid during pregnancy [OR 3.27, 95% CI 1.32-8.09], P=0.00; patients who were not taking vitamin supplementation during pregnancy [OR 2.6, 95% CI 1.19-7.27], P=0.02; smoking during pregnancy [OR 2.05, 95% CI 1.23-3.41], P=0.01; and alcohol abuse during pregnancy [OR 1.90, 95% CI 1.17-3.08], P=0.03. Conclusions: The main risk factors associated with the development of cleft lip and cleft palate in a Mexican population at the Women’s hospital in Culiacan, Sinaloa, Mexico were smoking, alcohol abuse, and patients not taking folic acid and multivitamins during pregnancy. PMID:28819616

Premaxillary characteristics in complete bilateral cleft lip and palate: A predictor for treatment outcome

PubMed Central

El-Kassaby, Marwa Abdelwahab; Abdelrahman, Noha Ibrahim; Abbass, Islam Tarek

2013-01-01

Objectives: The aim of the current study was to investigate how bilateral cleft lip and palate (BCLP) cases responded differently to presurgical orthopedics (PSO) and primary lip repair (LR) based on premaxillary characteristics. We suggest a clinically oriented descriptive classification for BCLP based on premaxillary characteristics. Design and Setting: A retrospective longitudinal comparative study where available records of all non-syndromic patients with complete BCLP attending the Cleft Clinic, affiliated to the Oral and Maxillofacial Surgery department, Ain-Shams University, Cairo, Egypt were assessed. Sample Population and Methodology: Twenty-two cases were collected over a 4-years period from 2008 to 2011 (15 boys and 7 girls). Model assessment was performed for serial models representing four stages of treatment; M1: Prior to start of PSO, M2: At the end of PSO, M3: One month after LR, M4: Three months after LR. The premaxillary and vomerine widths were measured on M1. Models (M1-M4) were assessed for changes in anteroposterior projection, anterior arch width, intercanine width and posterior arch width and results were statistically analyzed. Intra-and postoperative surgical findings during and after primary LR were recorded. The sample was divided into two groups based on the premaxillary size and characteristics; Group R: Rudimentary premaxilla and Group P: Prominent premaxilla. Results: There was a highly significant difference in premaxillary width between the two groups (P = 0.00), changes in anteroposterior projection of the premaxilla were significant one and three months after LR. Changes in maxillary anterior arch width, intercanine and posterior arch widths were non-significant between groups. Mean age difference between the two groups was only statistically significant at the stage of LR. Surgical differences were noted between the two groups. Postoperatively as compared to group R; group P showed more premaxillary bulge and show at rest, as well as more prolabial stretching. In addition, facial profile was more convex in group P. Conclusion: The two types of BCLP outlined in this study are different from several aspects, and hence management should be modified according to each case. This descriptive classification provides a useful tool for evaluation and planning of patients with BCLP. PMID:23662253

A Rare Case Report of a Child Coexistence Thyroglossal Cyst and Second Branchial Cleft Fistulae.

PubMed

Mahdoufi, Rachid; Barhmi, Ismail; Tazi, Nabil; Rouadi, Sami; Abada, Reda; Roubal, Mohamed; Mahtar, Mohamed

2017-06-01

Thyroglossal duct cysts followed by branchial cleft anomalies are the most common congenital neck masses encountered in practice, second branchial cleft cysts and sinuses are the most common type (LaRiviere and Waldhausen in Surg Clin North Am 92(3):583-597, 2012). Although both abnormalities are common individually, but rarely seen associated in same patient as described in our case. Congenitalcervical anomalies are important to consider in the differential of head and neck masses in children and adults. These lesions can present as palpable cystic masses, infected masses, draining sinuses, or fistulae. Thyroglossal duct cysts are most common, followed by branchial cleft anomalies. A synchronous presentation of both type of cyst and fistula in a same child patient is very rare with no such cases reported in literature till date.

COMPREHENSIVE EVALUATIVE TECHNIQUES FOR THE CHILD WITH A CLEFT PALATE.

ERIC Educational Resources Information Center

BENSEN, JACK F.; WHITE, FRAZER D.

A MULTIDISCIPLINARY APPROACH TO CHILDREN WITH CLEFT PALATES IS DESCRIBED. THE SOUTH FLORIDA CLEFT PALATE CLINIC, REPRESENTING NINE PROFESSIONAL SPECIALTIES, MEETS WEEKLY TO SEE SIX OR SEVEN CASES. SPEECH PERFORMANCE IS RECORDED ON SIX DIAGNOSTIC, DATA COLLECTING FORMS WHICH PROVIDE A BASIS FOR RECORDING CLINICAL JUDGMENTS. PROGNOSIS AND…

Branchial Cleft Cyst.

PubMed

Nahata, Vaishali

2016-01-01

Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity.

Unilateral advancement of the maxillary minor segment by distraction osteogenesis in patients with repaired unilateral cleft lip and palate: report of two cases.

PubMed

Kuroe, Kazuto; Iino, Shoichiro; Shomura, Kenji; Okubo, Akiro; Sugihara, Kazumasa; Ito, Gakuji

2003-05-01

Collapse of the maxillary minor segment with lateral crossbite is a common feature in patients with repaired unilateral cleft lip/palate because of maxillary alveolar bony defect and palatal scar tissue. Distraction osteogenesis (DOG) is an effective technique of lengthening and augmentation for bone and gingiva. This case report describes the effects of unilateral advancement of the maxillary minor segment by DOG in two patients with the repaired unilateral cleft lip/palate.

Presurgical nasoalveolar molding: A boon to facilitate the surgical repair in infants with cleft lip and palate

PubMed Central

Attiguppe, Prabhakar Ramasetty; Karuna, Y. M.; Yavagal, Chandrashekar; Naik, Saraswathi V.; Deepak, B. M.; Maganti, Rekhamani; Krishna, Chaithanya G.

2016-01-01

Cleft lip and palate (CLP) is the most common congenital craniofacial anomaly. Rehabilitation of CLP generally requires a team approach. Alveolar and nasal reconstruction for these patients is a challenge for the reconstructive surgeon. Various procedures have been attempted to reduce the cleft gap, so as to obtain esthetic results postsurgically. The presurgical nasoalveolar molding (PNAM) technique, developed by Grayson, is a new approach to presurgical infant orthopedics. PNAM reduces the severity of the initial cleft alveolar and nasal deformity. Thus, it enables the surgeon and the patient to enjoy the benefits associated with repair of a cleft deformity that is minimal in severity. This article presents a brief insight into PNAM with a case series of three different cases (one unilateral and two bilateral) which underwent PNAM treatment and gave an excellent surgical prognosis. PMID:27994432

Torsion of partial cleft of ear lobule.

PubMed

Kumaraswamy, M; Waiker, Veena P

2014-02-01

Torsion is a well-known phenomenon involving organs with long mesentery. Torsion in the ear lobule is rare. Ear lobule is very well vascularized. In cases of partial cleft ear lobule, there is a small segment of lobule inferior to the cleft which is vascularized through the pedicles on either side of the cleft. A lady aged 89 years presented with discoloration of the ear lobule. She was diagnosed as having gangrene of the central part of lobule. The segment of the lobule had undergone more than 360° torsion. She underwent debridement of gangrenous part and lobuloplasty. In our case laxity of the stretched lobule caused the torsion of the segment followed by gangrene. This rare complication indicates the need for correction of the cleft lobule not only for esthetic purpose, but also for the prevention of torsion. Copyright © 2013 Tissue Viability Society. Published by Elsevier Ltd. All rights reserved.

Nasal Airway Dysfunction in Children with Cleft Lip and Cleft Palate: Results of a Cross-Sectional Population-Based Study, with Anatomical and Surgical Considerations.

PubMed

Sobol, Danielle L; Allori, Alexander C; Carlson, Anna R; Pien, Irene J; Watkins, Stephanie E; Aylsworth, Arthur S; Meyer, Robert E; Pimenta, Luiz A; Strauss, Ronald P; Ramsey, Barry L; Raynor, Eileen; Marcus, Jeffrey R

2016-12-01

The aesthetic aspects of the cleft lip nasal deformity have been appreciated for over a century, but the functional implications have remained largely underappreciated or misunderstood. This study describes the frequency and severity of nasal obstructive symptoms among children with cleft lip and/or cleft palate, addressing the hypotheses that age, cleft type, and severity are associated with the development of nasal obstructive symptoms. Children with nonsyndromic cleft lip and/or cleft palate and a comparison group of unaffected children born from 1997 to 2003 were identified through the North Carolina Birth Defects Monitoring Program and birth certificates. Nasal airway obstruction was measured using the validated Nasal Obstruction Symptom Evaluation scale. The survey was completed by parental proxy for 176 children with cleft lip and/or cleft palate and 333 unaffected children. Nasal obstructive symptoms were more frequently reported in cleft lip with cleft palate compared with unaffected children (p < 0.0001); children who had isolated cleft lip with or without alveolus and isolated cleft palate were not statistically different from unaffected children. Patients with unilateral cleft lip with cleft palate were found to be more severely affected than bilateral cases. Nasal obstruction was observed in early childhood, although severity worsened in adolescence. This population-based study reports a high prevalence of nasal obstructive symptoms in children with cleft lip and/or cleft palate based on type and severity of the cleft. The authors encourage cleft teams to consider using this or similar screening methods to identify which children may benefit from functional rhinoplasty. Risk, I.

Neonatal care of infants with cleft lip and/or palate: feeding orientation and evolution of weight gain in a nonspecialized Brazilian hospital.

PubMed

Amstalden-Mendes, Lívia Gobby; Magna, Luis Alberto; Gil-da-Silva-Lopes, Vera Lúcia

2007-05-01

To survey the feeding orientation received during the postnatal period by the parents of cleft babies, as well as the location where they receive the orientation; to identify resources used in feeding; and to assess the correlation of the child's weight with the surgical procedure schedule. During consultation for diagnosis and genetic counseling in a general tertiary hospital, 26 parents of cleft babies born in different hospitals were interviewed based on a semistructured protocol and spontaneous reports. Cleft palate was present in 42.31% (11/26), cleft lip/palate in 50% (13/26), and cleft lip in 7.69% (2/26) of the cases. Feeding orientation was given in maternities to 72% (18/25) and in specific rehabilitation centers to 24% (6/ 25) of the parents. Breast-feeding was encouraged in every case. Nevertheless, other feeding resources were necessary, especially bottles. Surgical procedure delays caused by poor weight gain occurred in 66.7% (12/18). Neonatal feeding orientation was not systematically given in every case. Because it is an important way to achieve an effective weight gain, educational programs for nonspecialized health professionals, as well as regular pediatric follow-up and specialized multi-professional teams, could improve nutritional intake and could move the schedule for surgical procedures forward. The results also suggest that specific neonatal health care for cleft babies should be part of health policy.

Assessing an avoidable and dispensable reoperative entity: Self-referred flawed cleft lip and palate repair.

PubMed

Foroglou, Pericles; Tsimponis, Antonis; Goula, Olga-Christina; Demiri, Efterpi

2015-01-01

Cleft lip and palate (CLP) is comprised within the wide range of congenital deformities of the maxillofacial region with an overall incidence on the increase from 1:1000 to 1:700 live births thus being the most common congenital birth error. Failure of the lateral and medial nasal processes to fuse with the anterior extension of maxillary processes and of the palatal shelves between the 4th and 8th gestational week results in cleft lip and palate. Clefts include different types with variable severity, confirming the complexity and unpredictable expression of cleft modality and have a multifactorial aetiology. Functional impairment, aesthetic disturbances and psychosocial effects are common sequalae in patients with cleft lip and palate. The main long-term morbidity of this condition may include dysfunctional speech, impaired hearing and communication, as well as dental problems. These complications are followed by unfavourable surgical outcome and aesthetic appearance, which all seem to affect this group of patients significantly and have an impact significantly both quality of life and healthcare. Treatment requirements of cleft patients are multifactorial and a multi-disciplinary approach and intervention at multiple levels is necessary. Yet, in this country, resources available to parents and consistent publicity given to this issue and its treatment are still inadequate in spite of the introduction of "Centres of Excellence" and Unified Hospitalization Coding or DRG equivalents to optimize health management. The multi-disciplinary approach to cleft management has been a reality for over a century while cleft treatment protocols are still being evaluated in order to optimise standards of cleft care. According to relevant guidelines primary surgical management of lip and palate defects is performed during the first 3 to 9 months of life. Secondary operations in the form of revisional lip and nose procedures are performed at later stages aiming with an aesthetically improved outcome. Indications for surgery include widened scars, lip contour deformities, shortened lips, poorly defined and flattened nasal tip, short columella and irregularities of the nostrils (narrow or high-riding) and cartilages. Wound dehiscence, contractures, vermilion notching, white roll malalignment and orovestibular fistulas are possible unfavourable results after cleft lip repair. The psychological status of children and adults with repaired cleft lip and palate has been the subject of extensive research especially regarding the way of their evaluation facial appearance, satisfaction and need for secondary corrective surgical procedures in the hope of increasing their self-esteem and self-confidence. The aim of this study was to assess secondary CLP deformity management in an accredited present-day tertiary hospital facility with an existing infrastructure of a specialist teams however not formed in a multidisciplinary group. Equally, to answer questions of specific operation indications and choice as related to prior surgeries, hospitalization time and cost, provision of adequate preoperative information, correlation between paediatric and plastic surgeons and effect of post-plastic surgical care on patients' health and well-being. It also aims at presenting, beyond our current primary cleft lip and palate repair approach, appropriate indications and timing of secondary repair and achieved results.

In utero exposure to valproate increases the risk of isolated cleft palate.

PubMed

Jackson, Adam; Bromley, Rebecca; Morrow, James; Irwin, Beth; Clayton-Smith, Jill

2016-05-01

Orofacial clefting (OFC) has been described in infants exposed to valproic acid (VPA) prenatally, but often no distinction is made between cleft lip and palate (CLP) and isolated cleft palate (ICP). This distinction is important as these conditions have different management implications and the distinction has implications too for understanding the teratogenic mechanisms. We searched EMBASE, Medline and Web of Science for observational studies describing OFC in association with VPA exposure. Searches for similarly exposed patients referred to a regional genetic centre and those recorded in the UK Epilepsy and Pregnancy Register (UKEPR) were undertaken. Cleft type and, where available, VPA doses prescribed were recorded. A total of 4459 cases of VPA exposure were reported in the literature in nine separate studies with 50 cases of OFC, the majority of which did not differentiate the cleft type. Eight patients ascertained through the regional genetic centre had ICP. Thirteen cases of OFC occurred in 1282 VPA monotherapy-exposed pregnancies in the UKEPR; nine had ICP and four had CLP, representing an 11.3-fold and 3.5-fold increase risk in ICP and CLP, respectively, over general population risk. Doses ranged from 200 to 2500 mg VPA daily with 73% of monotherapy ICP cases from the local cohort and UKEPR occurring at doses over 1000 mg. ICP is the predominant cleft type seen in prenatal VPA exposure. Parents should be counselled appropriately and infants should undergo review after delivery for ICP. Pregnancy registers collecting information on congenital anomalies should make the distinction between CLP and ICP as the risk differs across the two conditions. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Unilateral Cleft Hand with Cleft Foot

PubMed Central

Baba, Asif Nazir; Bhat, Yasmeen J.; Ahmed, Sheikh Mushtaq; Nazir, Abid

2009-01-01

Congenital anomalies of the hand form an important class of congenital malformations. They have a huge functional importance because of the part played by the hand in the daily activities of a person. The deformities also have significant cosmetic significance and may also be associated with other anomalies. Amongst the congenital anomalies, central deficiency or cleft hand is relatively rare. The association of cleft foot with cleft hand is an even more rare occurance. We present a case report of a 6 year old child, born of a non-consanginous marriage, having congenital central deficiency of ipsilateral hand and foot. PMID:21475543

Spontaneous cleft palate in a newborn gorilla (Gorilla gorilla gorilla).

PubMed

Siebert, J R; Williams, B; Collins, D; Winkler, L A; Swindler, D R

1998-09-01

We report the first case of cleft palate in a newborn male gorilla (Gorilla gorilla gorilla). The full-term infant was born to clinically healthy, wild-caught parents and survived 5 days. Autopsy disclosed a unilateral cleft palate, moderate scalp hemorrhage (birth versus postnatal trauma), cerebral edema, and a sterile fibrin vegetation in the heart. The palate was also shorter and narrower than expected, and the biorbital breadth was reduced; otherwise, growth and development appeared normal. Standard cranial and intraoral radiographs and three-dimensional reconstructions of computerized tomographic (CT) scans provided thorough and noninvasive methods of studying the craniofacial complex and extracranial skeleton. By this technique, major findings were: intact premaxilla, interpremaxillary, and premaxillary/maxillary sutures; intramaxillary cleft with ipsilateral choanal atresia; mildly asymmetric inferior turbinates; and normal nasal septum and vomer. Except for choanal atresia, cleft palate was not associated with other major craniofacial or extracranial anomalies in this case. Choanal atresia has been observed at times with cleft palate, but to our knowledge, the association has not been reported in nonhuman primates. Cleft palate, with or without cleft lip, has been recognized in a variety of nonhuman primates, including the lemur, marmoset, tamarin, squirrel monkey, and macaque. Some occurrences are spontaneous, while others are syndromic and/or arise from genetic or teratogenic influences. Each mode of presentation is poorly understood in nonhuman primates, but in this case, the absence of relevant environmental or parental history suggests that the occurrence was spontaneous. Anatomic studies of nonhuman primates are particularly valuable when they involve endangered species and will hopefully increase our understanding of the pathogenesis and etiology of congenital disorders, as well as other relationships between nonhuman primates and humans.

An undescribed first branchial cleft anomaly.

PubMed

Rockey, Jason Gabriel; John, D Gareth; Herbetko, John

2003-06-01

A variant of a type 2 first branchial cleft anomaly, in which accessory ossicles were found, is described. There follows a discussion of the classification of first branchial cleft abnormalities and how this particular case falls outside the standard classification. CT scanning is mentioned as the investigation that is most useful for defining these abnormalities.

Branchial Cleft Anomalies

PubMed Central

McPhail, Neil; Mustard, Robert A.

1966-01-01

The embryology, anatomy and pathology of branchial cleft anomalies are discussed and 87 cases reviewed. The most frequent anomaly was branchial cleft cyst, of which there were 77 cases. Treatment in all cases consisted of complete excision. There were five cases of external branchial sinus and five cases of complete branchial fistula. Sinograms were helpful in demonstrating these lesions. Excision presented little difficulty. No proved case of branchiogenic carcinoma has been found in the Toronto General Hospital. Five cases are described in which the original diagnosis was branchiogenic carcinoma—in four of these a primary tumour has already been found. The authors believe that the diagnosis of branchiogenic carcinoma should never be accepted until repeated examinations over a period of at least five years have failed to reveal a primary tumour. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5 PMID:5901161

Three-dimensional quantitative evaluation of midfacial skeletal changes after trans-sutural distraction osteogenesis for midfacial hypoplasia in growing patients with cleft lip and palate.

PubMed

Tong, Haizhou; Gao, Feng; Yin, Jiapeng; Shi, Zehong; Song, Tao; Li, Haidong; Sun, Xiaomei; Wang, Yongqian; Yin, Ningbei; Zhao, Zhenmin

2015-11-01

Trans-sutural distraction osteogenesis (TSDO) is an alternative method for the early treatment of midfacial hypoplasia in growing patients with cleft lip and palate (CLP). The purpose of this study was to analyze three-dimensional (3D) midfacial skeletal changes after TSDO and to explore the mechanism in this process. All patients with nonsyndromic CLP who underwent bone-borne TSDO for midfacial hypoplasia from 2005 to 2014 were reviewed in this retrospective study. 3D morphological and quantitative measurement analyses were performed to evaluate midfacial skeletal changes by superimposition of preoperative and postoperative computed tomographic images. Twenty-six patients with mean age of 11.5 years met the inclusion criteria. The 3D morphological findings exhibited the most significant suture stress changes at the pterygomaxillary suture area, with obvious bone generation in all patients. The whole midfacial skeleton had progressively increased advancement in a craniocaudal direction along the midface segment, associated with morphological changes in skeleton itself. The 3D quantitative measurement findings showed differential advancement of each landmark at the maxillary alveolar, zygomatic bone, orbital rim, and nasal bone, which was consistent with morphological findings. TSDO allows rotation advancement of the midfacial skeleton to achieve occlusal correction and facial harmony through the mechanism of both suture remodeling and bone remodeling. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Effects of certain therapeutic factors on facial development in isolated cleft palate.

PubMed

Smahel, Z

1989-01-01

Roentgencephalometry was used during the investigation of the effects of some therapeutic factors on the growth and development of the jaws in 64 adult males with an isolated cleft palate repaired by pushback. The anterior growth of the maxilla was not related to the age at the time of surgery or to orthodontic therapy with removable appliances. A small number of individuals operated during adolescence had also a shorter depth of the maxilla similarly as patients operated upon during early childhood. Anterior crossbite developed mostly in patients with reduced proclination of the upper alveolar process, while, on the contrary, a retrusion of the maxilla played no essential part. This observation proves useful for the prediction of the development of this malocclusion. The angle of sagittal jaw relations does not represent necessarily a valid criterion of the development of the jaws. In the presence of an overbite retrusion of the maxilla is associated with a retroposition of the mandible and thus the angle of sagittal jaw relations remains unchanged. Thus overbite represents an effective mechanism acting on the position of the mandible. A differentiated approach for the determination of the age of choice at the time of palate surgery according to the type and extent of the cleft is proposed.

Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome?

PubMed

Jaeger, April; Kapur, Raj; Whelan, Michael; Leung, Eric; Cunningham, Michael

2003-06-01

In 1972, Fuhrmann et al. (Humangenetik 1972;14:196-203) described a novel syndrome consisting of cleft palate (CP) and lateral synechiae (LS) between the palate and the floor of the mouth. This constellation of malformations, since denoted as cleft-palate lateral synechiae syndrome (CPLS), is a rare syndrome; only five cases have been reported since the original description. Because of the paucity of recognized cases, little is known regarding the phenotypic spectrum of this presumably autosomal dominant condition. We report two unrelated patients who presented with remarkably similar phenotypic features, including multiple intraoral synechiae (filiforme intraalveolar bands), cleft palate, micrognathia, and redundant lower lip tissue. Their phenotypic findings indicate a diagnosis of CPLS; however, case 3 (the monozygotic twin of case 2) had classic phenotypic features of Fryns syndrome. This report presents two new cases of CPLS, and suggests that the CPLS phenotype may represent the mild end of the Fryns syndrome phenotypic spectrum. Supplementary material for this article can be found on the Birth Defects Research (Part A) website (http://www.interscience.wiley.com/ jpages/1542-0752/suppmat/67/fig5.xls).

Maternal reproductive history and the risk of isolated congenital malformations.

PubMed

Materna-Kiryluk, A; Więckowska, B; Wiśniewska, K; Borszewska-Kornacka, M K; Godula-Stuglik, U; Limon, J; Rusin, J; Sawulicka-Oleszczuk, H; Szwałkiewicz-Warowicka, E; Walczak, M

2011-03-01

We examined the relationship between maternal reproductive history and the newborn's risk of isolated congenital malformations in a large case-control cohort from the Polish Registry of Congenital Malformations. Congenital malformations were classified into four categories: isolated congenital heart defects (n=1673), isolated cleft palate (n=255), cleft lip with or without cleft palate (n=448) and renal agenesis (n=103). The case groups were compared with a shared group of 2068 controls recruited in the same time period and geographic area. Multivariable logistic regression was used to assess the risk associated with maternal gravidity and of previous miscarriages after accounting for maternal age and other potential risk factors. In unadjusted analyses, maternal gravidity was significantly associated with increased risk of all four classes of congenital malformations. After adjustment, a significant association persisted for congenital heart defects [odds ratio (OR)=1.22, [95% confidence interval (CI) 1.09, 1.36], P=0.0007] and cleft lip with or without cleft palate (OR=1.21, [95% CI 1.09, 1.36], P=0.0005). A similar trend existed for isolated cleft palate (OR=1.18, [95% CI 1.02, 1.37], P=0.03). There was no appreciable increase in the risk of congenital malformations associated with a maternal history of miscarriages, but a trend for a protective effect on the occurrence of cleft lip with or without cleft palate was observed (OR=0.72, [95% CI 0.52, 0.99], P=0.045). Based on our data, maternal gravidity represents a significant risk factor for congenital heart defects and cleft lip with or without cleft palate in the newborn infant. Our data do not support an increase in risk because of past history of miscarriages. © 2011 Blackwell Publishing Ltd.

Treatment outcomes of pre-surgical infant orthopedics in patients with non-syndromic cleft lip and/or palate: A systematic review and meta-analysis of randomized controlled trials

PubMed Central

2017-01-01

Background Non-syndromic clefts lip and/or palate (CL/P) defects may have manifold significant and detrimental consequences for the affected individuals and their family environment. Although the use of pre-surgical infant orthopedics (PSIO) was introduced as a means to improve management and treatment outcomes, there still remains a controversy. Objective To investigate the effectiveness of PSIO in patients with non-syndromic CL/P and evaluate the quality of the available evidence. Search methods Search without restrictions, together with hand searching, until May 2016. Selection criteria Randomized clinical trials investigating the effects of pre-surgical infant orthopedic appliances. Data collection and analysis Following study retrieval and selection, data extraction and individual study risk of bias assessment using the Cochrane Risk of Bias Tool took place. The overall quality of the available evidence was assessed with the Grades of Recommendation, Assessment, Development and Evaluation approach. Results Finally 20 papers (3 unique trials) were identified, involving a total of 118 patients with unilateral complete CL/P and 16 with cleft of the soft and at least two thirds of the hard palate. Eight publications were considered as being of low, four of unclear and eight of high risk of bias. In general, the investigated appliances did not present significant effects when compared to each other or to no treatment in terms of feeding and general body growth, facial esthetics, cephalometric variables, maxillary dentoalveolar variables and dental arch relationships, speech and language evaluation, caregiver-reported outcomes, economic evaluation, as well as, adverse effects and problems. Overall, the quality of the available evidence was considered low. Conclusions The aforementioned findings could provide initial guidance in the clinical setting. However, given the multitude of parameters, which may have affected the results, good practice would suggest further research, in order to reach more robust relevant recommendations for management decisions in individual cases. PMID:28742129

[Bilateral labio-maxillo-palatal clefts. Therapeutic evaluation].

PubMed

Raphaël, B; Morand, B; Bettega, G; Lesne, V; Lesne, C; Lebeau, J

2001-06-01

The wide diversity of bilateral facial clefts makes it most difficult to assess surgical success, particularly in terms of long-term outcome. The aim of this work was to examine the rationale for the current protocol used for cleft surgery at the Grenoble University Hospital. In a first group of 28 children, a 3-step surgical protocol was applied. The first two steps were performed between 4 and 8 months with at least 3 months between each procedure. Skoog's unilateral cheilo-rhino-uranoplasty was used, associated with a periosteal tibial graft. The third step, performed between 10 and 12 months, was for staphylorraphy. Outcome was analyzed at 15 years and evidenced the deleterious effect of excessive and asymmetrical premaxillary scars, of the 2-step cheiloplasty and of columella lengthenings from the lip. The frequency of secondary revision of the superior labial vestibule and the medial labial tubercule (43%) was considered to be high; this procedure should be re-examined as should be osteotomy (32% revision). Palatine closure, acquired in 82% of the cases and premaxillary stability, achieved in 86%, would appear to favor use of the periosteal tibial graft. The osteogenic capacity of this graft tissue was less satisfactory after a second harvesting (from the same tibia three months later). These results have led us to modify our protocol, favoring early and total closure of the bony palate and continued use of the periosteal tibial graft. We now use the following operative protocol: premaxillary alignment using an active orthopedic plate at 2 months, lip adhesion associated with staphylorraphy and passive palatine contention plate at 3 months, definitive bilateral cheilo-uranoplasty associated with a single periosteal graft at 7 months. The preliminary results with this protocol in a group of 12 children have shown better quality scars, more harmonious maxillary arches, an excellent occlusion of the deciduous dentition, and preservation of the positive results obtained with the periosteal tibial graft.

Branchial cleft-like cysts in Hashimoto's thyroiditis: A case report and literature review.

PubMed

Miyazaki, Masaya; Kiuchi, Shizuka; Fujioka, Yasunori

2016-05-01

We report an extremely rare case of branchial cleft-like cysts in Hashimoto's thyroiditis. The patient was a 77-year-old man with a growing mass in the anterior neck. Ultrasonography and computed tomography revealed a cystic lesion with septum in the left thyroid and multiple small cystic lesions in the right thyroid. Lymph node swelling of the cervical region, supraclavicular fossa and submandibular region was also observed. Left thyroidectomy and lymph node dissection were performed. Histologically, cysts were lined by stratified squamous epithelium and dense lymphoid tissue having conspicuous follicle formation surrounded the epithelial lining. Solid cell nest (SCN)-like aggregations were seen in the thyroid parenchyma adjacent to the cyst walls and a small number of thyroid follicles were observed in the fibrous wall. Immunohistochemically, it is suggested that both the cyst lining and SCN-like aggregations are originally from thyroid follicles. Although, the exact histogenesis of branchial cleft-like cysts remains unclear, there are probably two different processes for its development, one is of branchial cleft origin and the other is mere squamous metaplasia, while in our case the latter is suggested. Herein, we report our new case and update information about branchial cleft-like cysts that appears in the literature. © 2016 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.

Spelling Processes of Children With Nonsyndromic Cleft Lip and/or Palate: A Preliminary Study.

PubMed

Lee, Karen Shi Mei; Young, Selena Ee-Li; Liow, Susan Jane Rickard; Purcell, Alison Anne

2015-01-01

Objective :  To compare the cognitive-linguistic processes underlying spelling performance of children with cleft lip and/or palate with those of typically developing children. Design :  An assessment battery including tests of hearing, articulation, verbal short-term and working memory, and phonological awareness, as well as word and nonword spelling, was administered to both groups. Participants :  A total of 15 children with nonsyndromic cleft lip and/or palate were case-matched by age and sex to 15 typically developing children. The children were aged between 6 and 8 years and were bilingual, with English the dominant language. Results :  Wilcoxon signed-rank tests revealed that the performance of children with cleft lip and/or palate was significantly poorer on phoneme deletion and nonword spelling (P < .05) compared with typically developing children. Spearman correlation analyses revealed different relationships between the cognitive-linguistic and spelling measures for the cleft lip and/or palate and typically developing groups. Conclusions :  Children with cleft lip and/or palate underachieve in phonological awareness and spelling skills. To facilitate early intervention for literacy problems, speech-language pathologists should routinely assess the cognitive-linguistic processing of children with cleft lip and/or palate, especially phonological awareness, as part of their case management protocols.

Branchial Cleft Cyst

PubMed Central

Nahata, Vaishali

2016-01-01

Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity. PMID:27904209

Congenital Palatal Fistula Associated with Submucous Cleft Palate

PubMed Central

Eshete, Mekonen; Camison, Liliana; Abate, Fikre; Hailu, Taye; Demissie, Yohannes; Mohammed, Ibrahim; Butali, Azeez; Losken, H. Wolfgang

2016-01-01

Background: Although cleft lip and cleft palate are among the most common congenital malformations, the presence of an isolated congenital palatal fistula along with a submucous cleft is very rare. This appears as an oval-shaped, full-thickness fenestration in the palatal midline that does not fully extend anteriorly or posteriorly, accompanied by the findings of a submucous cleft. Because of the uncommon nature of this entity, there is controversy about its etiology, diagnosis, and management. Methods: Two cases of children with congenital palatal fistulae and a submucous cleft palate are presented who were treated in different settings by different surgeons. Cases are discussed along with a thorough review of the available literature. Results: Patient 1 presented at 4 years of age with “a hole in the palate” since birth and abnormal speech. His palatal fistula and submucous cleft were repaired with a modified von Langenbeck technique in Ethiopia. At a 2-year follow-up, the palate remained closed, but hypernasal speech persisted. Patient 2 was a 1-year-old presenting with failure to thrive and nasal regurgitation, who underwent a Furlow palatoplasty in the United States with good immediate results. She was unfortunately lost to follow-up. Conclusions: A congenital fenestration of the palate is rare. Reports reveal suboptimal speech at follow-up, despite various types of repair, especially when combined with a submucous cleft. Available literature suggests that repair should not focus on fistula closure only but instead on providing adequate palate length to provide good velopharyngeal function, as in any cleft palate repair. PMID:27014542

Molecular, clinical and political approaches to the problem of cleft lip and palate.

PubMed

Sandy, J R

2003-02-01

The oral facial complex in man appears to be exquisitively sensitive to genetic and environmental influences which is why clefts of the palate are the most common congenital birth anomaly. The development of the palate starts at about the 6th week of inter-uterine life and requires development of the palatal shelves from the maxillary processes of the first arch, shelf elevation, medial edge epithelial breakdown and mesenchyme flow with subsequent establishment of osteogenic and myogenic blastemata. This significant level of matrix turnover is partly regulated by the matrix metalloproteinases and potentially this could be affected by abnormalities in gene function. This may represent a common mechanism for a variety of different genes associated with clefting of the palate. The measurement of outcomes for children born with a cleft requires a wide input from a variety of specialities. The development of these outcome measures requires rigorous testing and validation, but it is now possible to use a variety of outcome measures to establish clinical standards and this has been done nationally. The impact of identifying a need for a change in organisation of service delivery was probably underestimated. It is clear that the current organisations in the National Health Service struggle to implement change, even with a detailed study and hard evidence. Reasons for this are outlined and a potential harder hitting strategy for effecting this change is outlined. The move towards primary care trusts within the latest reorganisation of the Health Service is potentially extremely damaging for specialised services for low incidence anomalies.

Resonance and speech articulation after midface advancement in craniofacial dysostosis.

PubMed

Bordbar, Patrishia; Blumenow, Wendy; Duncan, Christian; Richardson, David

2012-03-01

This study aimed to analyze changes in resonance and speech articulation after midface advancement in syndromic craniofacial patients and to assess the influence of craniofacial diagnosis and the presence or absence of a cleft palate. This study is a retrospective analysis of resonance and speech articulation in patients after midface advancement. This project was carried out in a multidisciplinary pediatric craniofacial service. Eighteen patients underwent midface advancement between 2002 and 2009. Three were excluded because of inadequate records or presence of tracheostomy. Midface advancement was done by Le Fort III, facial bipartition, or monobloc, either conventional surgery or distraction osteogenesis. Outcomes include perceptual assessment of articulation and resonance using GOS.SP.ASS.98 revised and recommendation for speech surgery. Hypernasality scores decreased in 7 patients (46.7%), and 5 patients were recommended for speech surgery. Hyponasality scores improved in 10 patients (66.7%), were unchanged in 3 patients (20%), and decreased in 2 patients (13%). Articulation changed (improved) in 1 patient (6.7%) only. Hypernasality scores decreased in 33.3% of Crouzon and 71.4% of Apert patients. Five patients had a cleft palate, 4 had Apert syndrome, and hypernasality scores decreased in 3 patients. Of 3 patients with Apert syndrome but no cleft palate, 2 (66.7%) also had a decrease in hypernasality scores. Our findings suggest a high incidence of deterioration in velopharyngeal function after midface advancement, particularly in Apert syndrome, regardless of the presence of a cleft, and an improvement in hyponasality, but minimal change in articulation. Larger prospective multicenter studies are required to investigate these findings further.

Skeletal and soft tissue changes and stability in cleft lip and palate patients after distraction osteogenesis using a new intraoral maxillary device.

PubMed

Ansari, Edward; Tomat, Catherine; Kadlub, Natacha; Diner, Patrick A; Bellocq, Thomas; Vazquez, Marie-Paule; Picard, Arnaud

2015-04-01

The authors have recently reported on the use of an internal maxillary distraction device. In this study, we report on the hard and soft tissue movements achieved with this intraoral distraction device, and the stability changes after distraction osteogenesis for maxillary hypoplasia in patients with cleft lip and palate. Ten male patients with severe hypoplasia of the maxilla, with complete uni- or bilateral cleft lip and palate were included. The mean age of the patients at the time of operation was 11.91 years (±3.41). To evaluate the distraction process and stability, superimpositions on the preoperative lateral cephalograms were performed. The mean follow-up (FU) was 15.42 months (±3.94). Cephalometric measurements at all of the maxillary hard and soft tissue points improved significantly. Maxillary point A was advanced by 8.25 mm (±3.17; P < 0.001). After distraction soft tissue point A' had advanced 7.10 mm (±2.69; P < 0.001). The soft tissue to hard tissue ratio at point A was 0.86:1 after distraction. Maxillary horizontal relapse at point A was 14.1% at FU. Vertical relapse was not significant. This rigid intraoral distraction device can be successfully used in the correction of severe maxillary hypoplasia. The marked aesthetic improvement and low psychological encumbrance make this device viable for the treatment of cleft-related hypoplasia of the maxilla. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Oropharyngeal trauma mimicking a first branchial cleft anomaly.

PubMed

Larem, Aisha; Sheikh, Rashid; Al Qahtani, Abdulsalam; Khais, Frat; Ganesan, Shanmugam; Haidar, Hassan

2016-06-01

We present a unique and challenging case of a remnant foreign body that presented to us in a child disguised as a strongly suspected congenital branchial cleft anomaly. This case entailed oropharyngeal trauma, with a delayed presentation as a retroauricular cyst accompanied by otorrhea that mimicked the classic presentation of an infected first branchial cleft anomaly. During surgical excision of the presumed branchial anomaly, a large wooden stick was found in the tract. The diagnostic and therapeutic obstacles in the management of such cases are highlighted. In addition to exploring the existing literature, we retrospectively analyzed a plausible explanation of the findings of this case. Laryngoscope, 126:E224-E226, 2016. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain

PubMed Central

Li, Hong; Sheridan, Ryan; Williams, Trevor

2013-01-01

Multiple lines of evidence indicate that the AP-2 transcription factor family has an important regulatory function in human craniofacial development. Notably, mutations in TFAP2A, the gene encoding AP-2α, have been identified in patients with Branchio-Oculo-Facial Syndrome (BOFS). BOFS is an autosomal-dominant trait that commonly presents with facial clefting, eye defects and branchial skin anomalies. Examination of multiple cases has suggested either simple haploinsufficiency or more complex genetic causes for BOFS, especially as the clinical manifestations are variable, with no clear genotype–phenotype correlation. Mutations occur throughout TFAP2A, but mostly within conserved sequences within the DNA contact domain of AP-2α. However, the consequences of the various mutations for AP-2α protein function have not been evaluated. Therefore, it remains unclear if all BOFS mutations result in similar changes to the AP-2α protein or if they each produce specific alterations that underlie the spectrum of phenotypes. Here, we have investigated the molecular consequences of the mutations that localize to the DNA-binding region. We show that although individual mutations have different effects on DNA binding, they all demonstrate significantly reduced transcriptional activities. Moreover, all mutant derivatives have an altered nuclear:cytoplasmic distribution compared with the predominantly nuclear localization of wild-type AP-2α and several can exert a dominant-negative activity on the wild-type AP-2α protein. Overall, our data suggest that the individual TFAP2A BOFS mutations can generate null, hypomorphic or antimorphic alleles and that these differences in activity, combined with a role for AP-2α in epigenetic events, may influence the resultant pathology and the phenotypic variability. PMID:23578821

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

PubMed

Wieczorek, Dagmar; Gener, Blanca; González, Ma Jesús Martínez; Seland, Saskia; Fischer, Sven; Hehr, Ute; Kuechler, Alma; Hoefsloot, Lies H; de Leeuw, Nicole; Gillessen-Kaesbach, Gabriele; Lohmann, Dietmar R

2009-05-01

Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness. Other mandibulofacial dysostoses (MDs) such as Toriello (OMIM 301950), Bauru (OMIM 604830), Hedera-Toriello-Petty (OMIM 608257), and Guion-Almeida (OMIM 610536) syndromes are less well characterized and much rarer. Here we describe three unrelated patients showing clinical features overlapping with TCS, but who in addition have developmental delay, microcephaly and a distinct facial gestalt. Because of the distinct ear anomalies and the hearing loss a HOXA2 mutation was taken into account. CHARGE syndrome was discussed because of ear anomalies, choanal atresia, and developmental delay in our patients. But mutational analyses including sequencing of the TCOF1, the HOXA2, and the CHD7 genes, deletion screening of the TCOF1 gene as well as genomewide array analyses revealed normal results. We suggest that these three patients have a new type of mandibulofacial dysostosis. As all three cases are sporadic and both sexes are affected the pattern of inheritance might be autosomal dominant or autosomal recessive. Identification of additional patients will allow to further delineate the phenotype, to assign the inheritance pattern and to identify the molecular basis.

Three-dimensional morphology of first molars in relation to ethnicity and the occurrence of cleft lip and palate.

PubMed

Echtermeyer, Sandra; Metelmann, Philine H; Hemprich, Alexander; Dannhauer, Karl-Heinz; Krey, Karl-Friedrich

2017-01-01

This study aims to describe morphological peculiarities of maxillary and mandibular first molars in Europeans, Asians and Europeans with cleft lip and palate. Reflex microscopy was used to obtain three-dimensional morphometric landmarks from 40 models (11 Europeans and 13 Asians without cleft lip and palate, 16 Europeans with unilateral cleft lip and palate). The cases were examined using traditional morphometry and geometric morphometry, and visualized using thin-plate splines. Classic morphometry showed no right/left differences in the study groups and no significant differences with regard to the cleft side in patients with cleft lip and palate. In Asians, a significantly greater mesiodistal width was found. Geometric morphometry showed an enlarged centroid size in Asians (maxilla and mandible). In cleft patients, the cleft site did not appear to impact the morphology of first molars. Unilateral clefting did not affect the size and shape of molars; however, characteristic ethnicity-based differences were in fact identified. The results are relevant for orthodontic treatment with preadjusted appliances, and prosthetic CAD/CAM restorations.

Laterality of Oral Clefts and Academic Achievement.

PubMed

Gallagher, Emily R; Collett, Brent R; Barron, Sheila; Romitti, Paul; Ansley, Timothy; Wehby, George L

2017-02-01

Children with isolated oral clefts have lower academic performance when compared with unaffected peers, yet few studies have examined specific attributes of clefts that may modify this risk. Oral clefts have nonrandom laterality, with left-sided clefts being more common than right-sided clefts, a pattern that may be genetically or environmentally influenced. The objective of this study was to evaluate the association between cleft laterality and academic achievement in a population-based sample of children with and without isolated oral clefts. The study included 292 children with isolated unilateral cleft lip with or without cleft palate identified by using the Iowa Registry for Congenital and Inherited Disorders matched with 908 unaffected classmates. This group provided 1953 child-grade observations for cases and 6829 for classmates. Academic achievement was evaluated by using high-quality standardized test data on multiple academic domains as well as use of special education. We found that children with right-sided clefts had similar achievement scores and usage of special education services compared with their unaffected classmates. Children with left-sided clefts had lower reading scores than children with right-sided clefts by nearly 7 percentiles (P < .05). They also had lower scores on all evaluated domains by 4 to 6 percentiles and greater use of special education services by 6 percentage points than their classmates. Children with left-sided clefts had poorer academic performance than their classmates or children with right-sided clefts, who showed similar academic achievement compared with their unaffected classmates. Copyright © 2017 by the American Academy of Pediatrics.

[Inconformity between soft tissue defect and bony defect in incomplete cleft palate].

PubMed

Zhou, Xia; Ma, Lian

2014-12-01

To evaluate the inconformity between soft tissue defect and bony defect by observing the cleft extent of palate with complete secondary palate bony cleft in incomplete cleft palate patient. The patients with incomplete cleft palate treated in Hospital of Stomatology Peking University from July 2012 to June 2013 were reviewed, of which 75 cases with complete secondary palate bony cleft were selected in this study. The CT scan and intraoral photograph were taken before operation. The patients were classified as four types according to the extent of soft tissue defect. Type 1: soft tissue defect reached incisive foremen region, Type 2 was hard and soft cleft palate, Type 3 soft cleft palate and Type 4 submucous cleft palate. Type 1 was defined as conformity group (CG). The other three types were defined as inconformity group (ICG) and divided into three subgroups (ICG-I), (ICG-II) and (ICG-III). Fifty-seven patients were in ICG group, and the rate of inconformity was 76% (57/75). The percentage of ICG-I, ICG-II and ICG-III was 47% (27/57), 23% (13/57) and 30% (17/57), respevtively. There are different types of soft tissue deformity with complete secondary palate bony cleft. The inconformity between soft tissue and hard tissue defect exits in 3/4 of isolated cleft palate patients.

Multidisciplinary treatment approach in Treacher Collins syndrome.

PubMed

Hylton, Joseph B; Leon-Salazar, Vladimir; Anderson, Gary C; De Felippe, Nanci L O

2012-01-01

Treacher Collins syndrome (TCS) is a common genetic disorder with high penetrance and phenotypic variability. First and second branchial arches are affected in TCS, resulting in craniofacial and intraoral anomalies such as: severe convex facial profile; mid-face hypoplasia; microtia; eyelid colobomas; mandibular retrognathism; cleft palate; dental hypoplasia; heterotopic teeth; maxillary transverse hypoplasia; anterior open bite; and Angle Class II molar relationship. A high incidence of caries is also a typical finding in TCS patients. Nonetheless, even simple dental restorative procedures can be challenging in this patient population due to other associated medical conditions, such as: congenital heart defects; decreased oropharyngeal airways; hearing loss; and anxiety toward treatment. These patients often require a multidisciplinary treatment approach, including: audiology; speech and language pathology; otorhinolaryngology; general dentistry; orthodontics; oral and maxillofacial surgery; and plastic and reconstructive surgeries to improve facial appearance. This paper's purpose was to present a current understanding of Treacher Collins syndrome etiology, phenotype, and current treatment approaches.

A community-based survey of visible congenital anomalies in rural Tamil Nadu

PubMed Central

Sridhar, K.

2009-01-01

An extensive community-based survey of visible congenital defects covering 12.8 million children in rural Tamil Nadu state was conducted during the years 2004–05. A door-to-door survey was done utilizing the existing health care delivery system. More than 10,000 village health nurses were involved to collect the data. All children between the ages of 0 and 15 years were seen. The children with defects were seen by a medical officer and diagnosis was made as per chart. A total of 1.30% of children were born with some visible anomalies. The male:female ratio was 1.3:1. There was a family history in 9% and consanguinity in 32%. More than 5% mothers had taken some medication in the first trimester of pregnancy out of which anti-convulsants were 3.4%. Facial clefts showed a lower incidence of 1 in 1976 live births with peak incidence between March and June. Cleft palate alone showed a higher percentage (30%) than other studies. PMID:19884674

Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X-linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hamel, B.C.J.; Mariman, E.C.M.; Beersum, S.E.C. van

1994-07-15

We report on two brothers and their two maternal uncles with severe mental retardation, congenital heart defect, cleft or highly arched palate, short stature and craniofacial anomalies consisting of microcephaly, abnormal ears, bulbous nose, broad nasal bridge, malar hypoplasia, and micro-gnathia. Three of the four patients died at an early age. The mother of the two brothers had an atrial septal defect. She is assumed to be manifesting carrier of a mutant gene, which is expressed in her two sons and two brothers. By multipoint linkage analysis it is found that the most likely location of the responsible gene ismore » the pericentromeric region Xp21.3-q21.3 with DMD and DXS3 as flanking markers. Maximum information is obtained with marker DXS453 (Z = 1.20 at {theta} = 0.0). 24 refs., 12 figs., 1 tab.« less

A dynamic Shh expression pattern, regulated by SHH and BMP signaling, coordinates fusion of primordia in the amniote face

PubMed Central

Hu, Diane; Young, Nathan M.; Li, Xin; Xu, Yanhua; Hallgrímsson, Benedikt; Marcucio, Ralph S.

2015-01-01

The mechanisms of morphogenesis are not well understood, yet shaping structures during development is essential for establishing correct organismal form and function. Here, we examine mechanisms that help to shape the developing face during the crucial period of facial primordia fusion. This period of development is a time when the faces of amniote embryos exhibit the greatest degree of similarity, and it probably results from the necessity for fusion to occur to establish the primary palate. Our results show that hierarchical induction mechanisms, consisting of iterative signaling by Sonic hedgehog (SHH) followed by Bone morphogenetic proteins (BMPs), regulate a dynamic expression pattern of Shh in the ectoderm covering the frontonasal (FNP) and maxillary (MxP) processes. Furthermore, this Shh expression domain contributes to the morphogenetic processes that drive the directional growth of the globular process of the FNP toward the lateral nasal process and MxP, in part by regulating cell proliferation in the facial mesenchyme. The nature of the induction mechanism that we discovered suggests that the process of fusion of the facial primordia is intrinsically buffered against producing maladaptive morphologies, such as clefts of the primary palate, because there appears to be little opportunity for variation to occur during expansion of the Shh expression domain in the ectoderm of the facial primordia. Ultimately, these results might explain why this period of development constitutes a phylotypic stage of facial development among amniotes. PMID:25605783

Cleft palate caused by congenital teratoma.

PubMed

Veyssière, Alexis; Streit, Libor; Traoré, Hamady; Bénateau, Hervé

2017-02-01

A cleft palate results from incomplete fusion of the lateral palatine processes, the median nasal septum and the median palatine process. This case report describes a rare case of congenital teratoma originating from the nasal septum that may have interfered with the fusion of the palatal shelves during embryonic development, resulting in a cleft palate. An infant girl was born at 40 weeks of gestation weighing 3020 g with a complete cleft palate associated with a large central nasopharyngeal tumour. Computed tomography (CT) of the head showed a well defined mass of mixed density. The tumour was attached to the nasal septum in direct contact with the cleft palate. A biopsy confirmed the teratoma. Tumour resection was performed at 5 months, soft palate reconstruction at 7 months and hard palate closure at 14 months. There was no sign of local recurrence 1 year later. Most teratomas are benign and the prognosis is usually good. However, recurrence is not rare if germ cell carcinomatous foci are present within the teratoma. For these reasons, we advocate the use of a two-stage procedure in which closure of the cleft palate is postponed until histological examination confirms complete excision of the teratoma.

Evaluating the use of octyl-2-cyanoacrylate in unilateral cleft lip repair

PubMed Central

Malhotra, Vijaylaxmy; Dayashankara Rao, J. K.; Arya, Varun; Sharma, Shalender; Singh, Sushil; Luthra, Payal

2016-01-01

Background: Facial cosmetic results are one of the most concerning issues for the parents who get their children operated for cleft lip. Moreover, the postoperative care of the surgical site, the discomfort associated with the suture removal, and additional visit for suture removal are other reasons which encourages one to use any new technologies that may replace the need for suture placement. In this study, we used octyl-2-cyanoacrylate, a tissue adhesive which offers a viable alternative to traditional techniques without compromising optimal wound closure. Objective: To perform a comprehensive comparison of the outcomes from the use of Dermabond in patients undergoing primary repair of congenital cleft lip ± palate anomalies. Materials and Methods: Twenty patients, in the age group of 3–18 months were treated surgically for unilateral cleft lip deformity using Millard rotation-advancement flap. Pre- and post-operative photographs of the patients were taken at 1 week, 2 week, 1 month, 6 months, and 1 year postoperatively and were evaluated using Vancouver scar scale which was given by Sullivan in 1990. Paired t-test was used for statistical analysis. Results: Increased vascularity (hyperemia) was seen in the 1st and 2nd week in 35% and 30% patients, respectively which gradually reduced to normal in subsequent follow-ups. The scar was flat in 85% of patients in 1st week, and the number decreased to 10% at the end of 1 year. No wound dehiscence was found in any patients. Statistical analysis showed that among all the follow-ups, only the difference between the first and second follow-ups. Comparison of the results of 1 week with all other follow-ups yielded no significant results. Conclusion: Octyl-2-cyanoacrylate can be used for cleft lip closure effectively. The procedure is relatively painless and quick. Added to this are benefits of protection from wound infection since the material is bacteriostatic. PMID:28356686

The effect of various factors on the dental arch relationship in non-syndromic unilateral cleft lip and palate children assessed by new approach: a retrospective study.

PubMed

Haque, Sanjida; Alam, Mohammad Khursheed; Khamis, Mohd Fadhli

2017-05-06

Cleft lip and palate (CLP) is one of the most common birth defects. Multiple factors are believed to be responsible for an unfavorable dental arch relationship in CLP. Facial growth (maxillary) retardation, which results in class III malocclusion, is the primary challenge that CLP patients face. Phenotype factors and postnatal treatment factors influence treatment outcomes in unilateral cleft lip and palate (UCLP) children, which has led to a great diversity in protocols and surgical techniques by various cleft groups worldwide. The aim of this study was to illustrate the dental arch relationship (DAR) and palatal morphology (PM) of UCLP in Bangladeshi children and to explore the various factors that are responsible for poor DAR and PM. Dental models of 84 subjects were taken before orthodontic treatment and alveolar bone grafting. The mean age was 7.69 (SD 2.46) years. The DAR and PM were assessed blindly by five raters using the EUROCRAN index (EI). Kappa statistics was used to evaluate the intra- and inter-examiner agreement, chi square was used to assess the associations, and logistic regression analysis was used to explore the responsible factors that affect DAR and PM. The mean EUROCRAN scores were 2.44 and 1.93 for DAR and PM, respectively. Intra- and inter-examiner agreement was moderate to very good. Using crude and stepwise backward regression analyses, significant associations were found between the modified Millard technique (P = 0.047, P = 0.034 respectively) of cheiloplasty and unfavorable DAR. Complete UCLP (P = 0.017) was also significantly correlated with unfavorable DAR. The PM showed a significant association with the type of cleft, type of cheiloplasty and type of palatoplasty. This multivariate study determined that the complete type of UCLP and the modified Millard technique of cheiloplasty had significantly unfavorable effects on both the DAR and PM.

Third branchial cleft anomaly presenting as a retropharyngeal abscess.

PubMed

Huang, R Y; Damrose, E J; Alavi, S; Maceri, D R; Shapiro, N L

2000-08-31

Branchial cleft anomalies are congenital developmental defects that typically present as a soft fluctuant mass or fistulous tract along the anterior border of the sternocleidomastoid muscle. However, branchial anomalies can manifest atypically, presenting diagnostic and therapeutic challenges. Error or delay in diagnosis can lead to complications, recurrences, and even life-threatening emergencies. We describe a case of an infected branchial cleft cyst that progressed to a retropharyngeal abscess in a 5-week-old female patient. The clinical, radiographic, and histologic findings of this rare presentation of branchial cleft cyst are discussed.

Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: a new syndrome or Fryns "anophthalmia-plus" syndrome?

PubMed

Ozçelik, Derya; Sağlam, Ibrahim; SIlan, Fatma; Sezen, Gülbin; Unveren, Toygar

2008-05-01

We report that a 4-year-old boy presented with right unilateral complete cleft lip and palate, right anophthalmos, left congenital nystagmus, absence of the vomer bone, mental-motor retardation, and normal lymphocyte karyotype (46, XY). For reconstruction of the deformities, we performed cleft lip repair by Millard's rotation-advancement technique and planned cleft palate repair. This combination of cleft lip and palate, anophthalmos, congenital nystagmus, absent vomer bone, and mental-motor retardation has not, to our knowledge, previously been described. We suggest that this represents either another case of the rare Fryns "anophthalmia-plus" syndrome or a new syndrome.

Complete second branchial cleft anomaly presenting as a fistula and a tonsillar cyst: an interesting congenital anomaly.

PubMed

Thottam, Prasad John; Bathula, Samba S; Poulik, Janet M; Madgy, David N

2014-01-01

Branchial cleft anomalies make up 30% of all pediatric neck masses, but complete second branchial cleft anomalies are extremely rare. We report an unusual case of a complete second branchial cleft anomaly that presented as a draining neck fistula and a tonsillar cyst in an otherwise healthy 3-month-old girl. At the age of 7 months, the patient had been experiencing feeding difficulties, and there was increasing concern about the risk of persistent infections. At that point, the anomaly was excised in its entirety. Our suspicion that the patient had a complete second branchial cleft anomaly was confirmed by imaging, surgical excision, and histopathologic analysis.

First branchial cleft anomaly presenting as a recurrent post-auricular abscess.

PubMed

Siddiq, M A

2003-01-01

Embryological anomalies of the first branchial cleft are uncommonly encountered. They usually present as cysts, swellings, or fistulas in the pre-auricular or post-auricular area or high in the neck, which may become infected. Failure to recognise these unusual cases may result in misdiagnosis, inadequate treatment, and subsequent recurrence. Further definitive surgery may thus be complicated. A case is reported of a patient who attended accident and emergency on three occasions with an infected post-auricular cyst, which was treated by incision and drainage. It was subsequently found to be a first branchial cleft anomaly.

First-trimester non-systemic corticosteroid use and the risk of oral clefts in Norway

PubMed Central

Skuladottir; Wilcox; McConnaughey; Vindenes; Lie

2014-01-01

Background Exposure of pregnant mice to corticosteroids can produce oral clefts in offspring. While data in humans are more mixed, recent reports have suggested that dermatologic steroids are associated with oral clefts. Methods We investigated maternal first-trimester exposure to corticosteroids (focusing on dermatologic uses) and oral clefts in offspring using two population-based studies. The Norway Cleft Study (1996–2001) is a national case-control study including 377 infants with cleft lip +/− palate (CLP), 196 infants with cleft palate only (CPO) and 763 controls. The Norwegian Mother and Child Cohort Study (MoBa, 1998–2008), is a national birth cohort including 123 infants with CLP, 61 infants with CPO and 551 controls. Results In the case-control study, there was the suggestion of an association of dermatological corticosteroids with both CLP (adjusted OR (aOR) = 2.3, 95% confidence interval = 0.71, 7.7) and CPO (aOR = 3.4, 0.87–13). There was no evidence of this association in the cohort data (OR for CLP = 1.2; 0.50, 2.8), OR for CPO = 1.0, 0.30–3.4), although exposure to dermatological steroids was less specifically ascertained. There were no associations with other types of corticosteroids. Conclusion Our data add to the suggestive but inconsistent findings for this association. PMID:25127739

Treatment of velopharyngeal inadequacy in a patient with submucous cleft palate and myasthenia gravis.

PubMed

Rikihisa, Naoaki; Udagawa, Akikazu; Yoshimoto, Shinya; Ichinose, Masaharu; Kimura, Tomoe; Shimizu, Sara

2009-09-01

To describe the clinical course and management of a patient with submucous cleft palate who developed myasthenia gravis (MG) as an adult and suffered recurrent hypernasality. Few reports have described MG patients undergoing pharyngeal flap surgery for velopharyngeal incompetence, and these have described only slight speech improvement in such patients. Case report. The patient underwent primary pushback palatoplasty and superiorly based pharyngeal flap surgery for submucous cleft and short palate at age 7. Hypernasality showed major improvement after initial surgery. At age 19, the patient developed MG that triggered the recurrence of velopharyngeal incompetence. After MG was treated, revision pushback palatoplasty was performed for velopharyngeal incompetence when the patient was 24 years old. Preoperatively and postoperatively, the patient was evaluated by the same speech-language-hearing therapists, each with at least 5 years of clinical experience in cleft palate speech. After the second pushback palatoplasty, hypernasality and audible nasal air emission during speech decreased to mild. Primary pushback palatoplasty and pharyngeal flap surgery were performed for the submucous cleft palate. Revision pushback palatoplasty improved velopharyngeal inadequacy induced by MG. Decreased perceived nasality positively influenced the patient's quality of life. Combined pushback palatoplasty and pharyngeal flap surgery is thus an option in surgical treatment for velopharyngeal inadequacy to close the cleft and the velopharyngeal orifice in cases of cleft palate and MG.

Report of an unsual case of anophthalmia and craniofacial cleft in a newborn with Toxoplasma gondii congenital infection.

PubMed

Arce-Estrada, Gabriel Emmanuel; Gómez-Toscano, Valeria; Cedillo-Peláez, Carlos; Sesman-Bernal, Ana Luisa; Bosch-Canto, Vanessa; Mayorga-Butrón, José Luis; Vargas-Villavicencio, José Antonio; Correa, Dolores

2017-07-03

We present one unusual case of anophthalmia and craniofacial cleft, probably due to congenital toxoplasmosis only. A two-month-old male had a twin in utero who disappeared between the 7 th and the 14 th week of gestation. At birth, the baby presented anophthalmia and craniofacial cleft, and no sign compatible with genetic or exposition/deficiency problems, like the Wolf-Hirschhorn syndrome or maternal vitamin A deficiency. Congenital toxoplasmosis was confirmed by the presence of IgM abs and IgG neo-antibodies in western blot, as well as by real time PCR in blood. CMV infection was also discarded by PCR and IgM negative results. Structures suggestive of T. gondii pseudocysts were observed in a biopsy taken during the first functional/esthetic surgery. We conclude that this is a rare case of anophthalmia combined with craniofacial cleft due to congenital toxoplasmosis, that must be considered by physicians. This has not been reported before.

A case of 3q29 microdeletion syndrome involving oral cleft inherited from a non-affected mosaic parent: molecular analysis and ethical implications

PubMed Central

Petrin, Aline L.; Daack-Hirsch, Sandra; L’Heureux, Jamie; Murray, Jeffrey C

2010-01-01

Objective The objective of this study was to use array-CGH to detect causal microdeletions in samples of subjects with cleft lip and palate. Subjects We analyzed DNA samples from a male patient and parents that was seen during surgical screening for an Operation Smile medical mission in the Philippines. Method We used Affymetrix Genome Wide Human SNP Array 6.0 followed by sequencing and quantitative PCR using SYBR Green I dye. Results We report the second case of 3q29 microdeletion syndrome including cleft lip with or without cleft palate and the first case of this microdeletion syndrome inherited from a phenotypically normal mosaic parent. Conclusions Our findings confirm the utility of aCGH to detect causal microdeletions; indicate that parental somatic mosaicism should be considered in healthy parents for genetic counseling of the families and discuss important ethical implications of sharing health impact results from research studies with the participant families. PMID:20500065

[Surgical treatment in otogenic facial nerve palsy].

PubMed

Feng, Guo-Dong; Gao, Zhi-Qiang; Zhai, Meng-Yao; Lü, Wei; Qi, Fang; Jiang, Hong; Zha, Yang; Shen, Peng

2008-06-01

To study the character of facial nerve palsy due to four different auris diseases including chronic otitis media, Hunt syndrome, tumor and physical or chemical factors, and to discuss the principles of the surgical management of otogenic facial nerve palsy. The clinical characters of 24 patients with otogenic facial nerve palsy because of the four different auris diseases were retrospectively analyzed, all the cases were performed surgical management from October 1991 to March 2007. Facial nerve function was evaluated with House-Brackmann (HB) grading system. The 24 patients including 10 males and 14 females were analysis, of whom 12 cases due to cholesteatoma, 3 cases due to chronic otitis media, 3 cases due to Hunt syndrome, 2 cases resulted from acute otitis media, 2 cases due to physical or chemical factors and 2 cases due to tumor. All cases were treated with operations included facial nerve decompression, lesion resection with facial nerve decompression and lesion resection without facial nerve decompression, 1 patient's facial nerve was resected because of the tumor. According to HB grade system, I degree recovery was attained in 4 cases, while II degree in 10 cases, III degree in 6 cases, IV degree in 2 cases, V degree in 2 cases and VI degree in 1 case. Removing the lesions completely was the basic factor to the surgery of otogenic facial palsy, moreover, it was important to have facial nerve decompression soon after lesion removal.

Lip prints and inheritance of cleft lip and cleft palate.

PubMed

Cj, Manasa Ravath; Hc, Girish; Murgod, Sanjay; Hegde, Ramesh B; Jk, Savita

2014-07-01

Labial mucosa has elevations and depressions forming a pattern called 'Lip Prints'. Parents of patients with cleft lip &/or palate are known to have a particular lip print pattern. Analysis of lip prints and relationship between Cheiloscopy and inheritance of cleft lip &/or cleft palate. The study included 100 subjects [study groupparents with children having cleft lip &/or cleft palate, 50 fathers and 50 mothers) and 50 subjects (control group-parents having children without cleft lip &/or cleft palate, 25 fathers and 25 mothers. The lip prints of the subjects were obtained using the cellophane method and analysed using Suzuki & Tsuchihashi classification of lip prints. The data was subjected to Chi- Square test, Fisher Exact test and Student t-test [two tailed, independent]. A new whorl pattern was present in the study group. The groove count was higher in the fathers' than in the mothers' prints in the upper lip and vice versa in the lower lip. The new pattern was present in the study group in a significant number of cases. The groove count was significantly high in the study group. These two parameters can be of significant value to similar future studies.

Lip Prints and Inheritance of Cleft Lip and Cleft Palate

PubMed Central

CJ, Manasa Ravath; HC, Girish; Hegde, Ramesh B; JK, Savita

2014-01-01

Background: Labial mucosa has elevations and depressions forming a pattern called ‘Lip Prints’. Parents of patients with cleft lip &/or palate are known to have a particular lip print pattern. Objectives: Analysis of lip prints and relationship between Cheiloscopy and inheritance of cleft lip &/or cleft palate. Methodology: The study included 100 subjects [study groupparents with children having cleft lip &/or cleft palate, 50 fathers and 50 mothers) and 50 subjects (control group-parents having children without cleft lip &/or cleft palate, 25 fathers and 25 mothers. The lip prints of the subjects were obtained using the cellophane method and analysed using Suzuki & Tsuchihashi classification of lip prints. The data was subjected to Chi- Square test, Fisher Exact test and Student t-test [two tailed, independent]. Results: A new whorl pattern was present in the study group. The groove count was higher in the fathers’ than in the mothers’ prints in the upper lip and vice versa in the lower lip. Conclusion: The new pattern was present in the study group in a significant number of cases. The groove count was significantly high in the study group. These two parameters can be of significant value to similar future studies. PMID:25177633

Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.

PubMed

Wolf, Zena T; Brand, Harrison A; Shaffer, John R; Leslie, Elizabeth J; Arzi, Boaz; Willet, Cali E; Cox, Timothy C; McHenry, Toby; Narayan, Nicole; Feingold, Eleanor; Wang, Xioajing; Sliskovic, Saundra; Karmi, Nili; Safra, Noa; Sanchez, Carla; Deleyiannis, Frederic W B; Murray, Jeffrey C; Wade, Claire M; Marazita, Mary L; Bannasch, Danika L

2015-03-01

Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10(-13); adjusted p= 2.2 x 10(-3)). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 - 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases and 4 controls at 15X coverage led to the discovery of a frameshift mutation within ADAMTS20 (c.1360_1361delAA (p.Lys453Ilefs*3)), which segregated concordant with the phenotype. In a parallel study in humans, a family-based association analysis (DFAM) of 125 CL/P cases, 420 unaffected relatives, and 392 controls from a Guatemalan cohort, identified a suggestive association (rs10785430; p =2.67 x 10-6) with the same gene, ADAMTS20. Sequencing of cases from the Guatemalan cohort was unable to identify a causative mutation within the coding region of ADAMTS20, but four coding variants were found in additional cases of CL/P. In summary, this study provides genetic evidence for a role of ADAMTS20 in CL/P development in dogs and as a candidate gene for CL/P development in humans.

An unusual presentation of presentation of a branchial cleft cyst.

PubMed

Vemula, Rahul; Greco, Gregory

2012-05-01

Branchial cleft cysts are congenital anomalies that arise from the aberrant embryological development of the branchial apparatus. The location of a branchial cleft cyst is determined by which branchial cleft failed to obliterate during embryological development, with the second branchial cleft cyst being the most commonly recognized lesion. Although the most common location for branchial cleft cysts is between the external auditory canal and the level of the clavicle, the literature does describe unusual locations. We present a case a 15-year-old boy who had an enlarging lesion on his back that had been present since birth. A presumptive radiologic diagnosis of lymphangioma circumscriptum was made. Upon excision of the lesion and pathologic examination, it was determined to be a branchial cleft cyst. The patient had an uneventful postoperative course, and no recurrence was noted after a 2-year follow-up. Our clinical report demonstrates a lesion on the posterior thorax that proved to be a branchial cleft cyst and should always be part of the differential diagnosis for soft tissue masses of the thorax.

First branchial cleft fistula presenting with internal opening on the Eustachian tube: Illustrated cases and literature review.

PubMed

Liu, Yuhe; Li, Tiancheng; Xue, Junfang; Jia, Jun; Xiao, Shuifang; Zhao, Enmin

2012-05-01

Two cases of first branchial cleft fistula with internal opening on the Eustachian tube are reported and the diagnosis, management and embryological hypothesis are discussed. Retrospective study and review of the literature. Both patients were young boys with first branchial cleft anomaly clearly identified by computed tomography fistulography scan and direct Methylene Blue dye injection. In both cases, surgical removal revealed a fistula with internal opening located on the Eustachian tube near the nasopharynx. The main embryological theories and classification are reviewed. A connection between the theories of first branchial apparatus development and the classification by Work might explain the reported clinical association. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Dermatoglyphics and Cheiloscopy as Key Tools in Resolving the Genetic Correlation of Inheritance Patterns in Cleft Lip and Palate Patients: An Assessment of 160 Patients.

PubMed

Singh, Priyankar; Nathani, Dipesh B

2017-09-01

  The objective of this study was to correlate dermatoglyphics and cheiloscopy with genetic inheritance in cleft lip and cleft palate patients.   This was a case-control study to look for asymmetry in finger and lip print patterns. All of the participants were divided into two equal groups (40 mothers and 40 fathers in each group). The data were analyzed by three evaluators who were blind to the study to avoid any chances of error.   A sample of 160 sporadic participants were identified and evaluated. Group A was composed of 80 healthy parents not affected by cleft lip and cleft palate but had at least one child born with nonsyndromic cleft. Group B consisted of 80 healthy parents not affected by cleft lip and cleft palate and had healthy children without cleft lip and cleft palate.   Main outcome measures were marked dermatoglyphic asymmetry and specific lip print pattern in the study group.   We found marked asymmetry in various fingerprints and specific type II and type III lip print in the study group when compared with the control group. It was observed that groove count on the lip was significantly more frequent in study group parents.   Our study determined that there is a significant correlation between increased dermatoglyphic asymmetry and specific type II and type III lip print pattern in parents of children born with cleft. This could act as an important screening marker for the prediction of cleft lip and cleft palate inheritance.

Evaluation of the Effectiveness of an Alar Transfixion Suture for the Correction of a Vestibular Web and Alar-Facial Groove: A Photogrammetric Analysis.

PubMed

Han, Kihwan; Oh, Sangho; Choi, Jaehoon; Park, Sang Woo

2018-05-01

Alar transfixion sutures are commonly used for vestibular web correction. The purpose of this study was to evaluate the long-term results of the use of alar transfixion sutures in patients with a unilateral cleft lip nasal deformity using photogrammetric analysis. The study included 42 patients who were divided into child and adult groups. A total of 4 measurement items were evaluated from a basal view by photogrammetry using standardized clinical photographic techniques preoperatively, immediately postoperatively, 3 months postoperatively, and 6 months postoperatively. When the preoperative and last postoperative values were compared, no significant changes in any measurement items were noted in the adult group. In the child group, the proportional index (the ratio of the cleft side to the noncleft side) of the alar slope line inclination was significantly increased, but other measurement items showed no significant change. When the measurement items were compared between time points, no significant changes in any measurement items were noted in the adult group. In the child group, the proportional indexes of the alar length, the width between the subnasale and the alare, and the webbing degree were significantly decreased immediately postoperatively compared with the preoperative values. However, these significant changes were diminished at 3 months postoperatively. The proportional index of the alar slope line inclination was significantly increased at 3 months postoperatively compared with the preoperative value, but the significant change was diminished at 6 months postoperatively. The alar transfixion suture procedure is not effective for correcting a vestibular web and alar-facial groove.

Effective retropulsion and centralization of the severely malpositioned premaxilla in patients with bilateral cleft lip and palate: a novel modified presurgical nasoalveolar molding device with retraction screw.

PubMed

Li, Wanshan; Liao, Lishu; Dai, Jingbo; Zhong, Yuxiang; Ren, Leixi; Liu, Yutao

2014-12-01

A novel, modified presurgical nasoalveolar molding (MPNAM) device with retraction screw was designed and used in patients with bilateral complete cleft lip and palate (BCCLP) to rapidly retract and centralize the protuberant and malpositioned premaxilla and correct the nasolabial and palatal deformities. The orthopedic effects and possible complications were evaluated. Nine patients with BCCLP who met the inclusion criteria were selected. After the maxillary model was obtained, the new MPNAM device with retraction screw was designed and worn until cheilorrhaphy. Changes in local deformities and complications were observed continuously, and the orthopedic effect was evaluated. All patients quickly adapted to the MPNAM appliance, and the treatment was finished after 5-8 return visits. The columella was significantly prolonged, the nasal tip was elevated, and the collapsed nasal dome was obviously improved. Simultaneously, the premaxilla was rapidly retracted and rotated, and gradually centralized; the clefts were gradually reduced and closed, and a nearly normal dental arch was formed. Although there were some complications, the orthopedic treatment was continued until cheiloplasty. The MPNAM device with retraction screw can simultaneously correct nasolabial and palatal deformities and also rapidly retract and centralize the premaxilla. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Adult-Specific Life Outcomes of Cleft Lip and Palate in a Western Australian Cohort.

PubMed

Nicholls, Wendy; Harper, Craig; Robinson, Suzanne; Persson, Martin; Selvey, Linda

2018-01-01

People with a cleft of the lip and/or palate (CL/P) differ from their peers due to their facial appearance, hearing and speech difficulties, and the significant time spent attending appointments and recovering from surgical interventions. These differences may impact life outcomes including occupation, income, education, relationships, psychosocial health issues, and lifestyle choices. A self-administered questionnaire was posted to 338 former and current patients of the Cleft Lip and Palate Unit of Princess Margaret Hospital (PMH), Perth, Western Australia. Completed questionnaires were returned by 158 former and current patients. In comparison to the Australian Bureau of Statistics, study participants attained equivalent highest education levels, full-time annual income levels, occupational categories, employment rates, and home ownership levels. They did not marry later and demonstrated positive health-related lifestyle behaviors. However independent living was significantly delayed, and the number of romantic relationships, marriages, and children was lower, with separation/divorce rates also being lower. A key finding was that 78% of participants self-reported that they experienced at least 1 psychosocial health issue and more than half experienced anxiety and/or depression. When comparing the sociological outcomes for the study participants, the psychosocial outcomes were the areas of most concern. Further investigation is required to determine the causes for the high self-reported rates of anxiety and/or depression found in this study.

Reduction in morbidity after iliac crest bone harvesting: the concept of preemptive analgesia.

PubMed

Hoard, M A; Bill, T J; Campbell, R L

1998-09-01

The technique of autologous iliac crest bone grafting is an important aspect in the treatment of patients with cleft lip, cleft palate, and other craniofacial disorders. In patients with cleft lip and palate, the alveolar bone graft creates a continuous maxillary arch, closes the oronasal fistula, provides bony support for facial soft tissue and teeth, and facilitates orthodontic movement of teeth. The anatomic and physiologic benefits of this and similar autologous bone graft procedures are apparent. However, pain at the donor site represents a significant source of postoperative morbidity. This study was conducted to evaluate postoperative pain and the ability to perform activities of daily living after bupivacaine infiltration to iliac crest donor sites. Thirty-four alveolar bone graft patients (18 females, 16 males) treated at two teaching hospitals were included in the study. Eleven of the patients received intraoperative bupivacaine at the iliac donor site and 23 did not. A questionnaire was returned by all participants, and telephone follow-up was obtained. Responses to postoperative pain, time period to ambulation, and ability to perform activities of daily living were evaluated. Patients who received postoperative bupivacaine experienced delayed onset of postoperative pain, earlier ambulation, and were able to return to normal daily activity in a shorter period of time than those patients who received no local anesthesia. The concept of preemptive analgesia and its application to craniofacial surgery is discussed.

Cleft closure and undersizing annuloplasty improve mitral repair in atrioventricular canal defects

PubMed Central

Padala, Muralidhar; Vasilyev, Nikolay V.; Owen, James W.; Jimenez, Jorge H.; Dasi, Lakshmi P.; del Nido, Pedro J.; Yoganathan, Ajit P.

2009-01-01

Objective Reoperation rates to correct left atrioventricular valve regurgitation after primary repair of atrioventricular canal defects remain relatively high. The causes of valvular regurgitation are likely multifactorial, and simple cleft closure is often insufficient to prevent recurrence. Methods To elucidate the mechanisms leading to regurgitation, we conducted hemodynamic studies using isolated native mitral valves. Anatomy of these valves was altered to mimic atrioventricular canal type valves and studied under pediatric hemodynamic conditions. The impact of subvalvular geometry, cleft closure, annular dilatation, and annular undersizing on regurgitation were investigated. Results Papillary muscle position did not have a significant effect on regurgitation. Cleft closure had a significant impact on valvular competence, with reduction in regurgitation volume with increased cleft closure. Regurgitation volume decreased from 12.5 ± 2.4 mL/beat for an open cleft to 4.9 ± 1.9 mL/beat for a partially closed cleft and to 1.4 ± 1.6 mL/beat when the cleft was completely closed. Annular dilatation had a significant impact on regurgitation even after cleft closure. A 40% increase in annular size increased regurgitation by 59% for a partially closed cleft and by 84% for a fully closed cleft. Reducing the annular size by 20% from the physiologic level decreased the regurgitation volume by 12% for a fully open cleft and by 58% for the partially closed cleft case. Conclusions Annular dilatation after primary repair has a potentially significant role in the recurrence of atrioventricular valve regurgitation. Reducing the annular size and restricting dilatation as an adjunct to cleft closure is a promising surgical approach in such valve anatomies. PMID:19026810

Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the [beta][sub 3] subunit of the type A [gamma]-aminobutyric acid receptor

DOE Office of Scientific and Technical Information (OSTI.GOV)

Culiat, C.T.; Stubbs, L.; Nicholls, R.D.

1993-06-01

Genetic and molecular analyses of a number of radiation-induced deletion mutations of the pink-eyed dilution (p) locus in mouse chromosome 7 have identified a specific interval on the genetic map associated with a neonatally lethal mutation that results in cleft palate. This interval, closely linked and distal to p, and bracketed by the genes encoding the [alpha][sub 5] and [beta][sub 3] subunits of the type A [gamma]-aminobutyric acid receptor (Gabra5 and Gabrb3, respectively), contains a gene(s) (cp1; cleft palate 1) necessary for normal palate development. The cp1 interval extends from the distal breakpoint of the prenatally lethal p[sup 83FBFo] deletionmore » to the Gabrb3 locus. Among 20 p deletions tested, there was complete concordance between alterations at the Gabrb3 transcription unit and inability to complement the cleft-palate defect. These mapping data, along with previously described in vivo and in vitro teratological effects of [gamma]-aminobutyric acid or its agonists on palate development, suggest the possibility that a particular type A [gamma]-aminobutyric acid receptor that includes the [beta][sub 3] subunit may be necessary for normal palate development. The placement of the cp1 gene within a defined segment of the larger D15S12h (p)-D15S9h-1 interval in the mouse suggests that the highly homologous region of the human genome, 15q11-q13, be evaluated for a role(s) in human fetal facial development. 29 refs., 4 figs., 1 tab.« less

Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lachman, H.M.; Papolos, D.F.; Veit, S.

Velo-cardio-facial-syndrome (VCFS) is a common congenital disorder associated with typical facial appearance, cleft palate, cardiac defects, and learning disabilities. The majority of patients have an interstitial deletion on chromosome 22q11. In addition to physical abnormalities, a variety of psychiatric illnesses have been reported in patients with VCFS, including schizophrenia, bipolar disorder, and attention deficit hyperactivity disorder. The psychiatric manifestations of VCFS could be due to haploinsufficiency of a gene(s) within 22q11. One candidate that has been mapped to this region is catechol-O-methyltransferase (COMT). We recently identified a polymorphism in the COMT gene that leads to a valine{r_arrow}methionine substitution at aminomore » acid 158 of the membrane-bound form of the enzyme. Homozygosity for COMT158{sup met} leads to a 3- to 4-fold reduction in enzymatic activity, compared with homozygotes for COMT158{sup met}. We now report that in a population of patients with VCFS, there is an apparent association between the low-activity allele, COMT158{sup met}, and the development of bipolar spectrum disorder, and in particular, a rapid-cycling form. 33 refs., 3 tabs.« less

The Determination of Nursing Manpower Requirements in Humanitarian Assistance Missions for Hospital Ships

DTIC Science & Technology

2007-06-01

cleft lips and cleft palates which resulted in lower volume and slightly higher acuity. Other cases such as orthopedics and gynecology are performed at...nutritional and metabolic diseases, and immunity disorders. The category of congenital anomalies involved surgical repairs of cleft lips and... palates , while the category for diseases of the digestive system included patients with hernias. In contrast, the category for diseases of the nervous

Association of single nucleotide polymorphisms in WNT genes with the risk of nonsyndromic cleft lip with or without cleft palate.

PubMed

Rafighdoost, Houshang; Hashemi, Mohammad; Asadi, Hossein; Bahari, Gholamreza

2018-01-22

Nonsyndromic cleft lip with or without cleft palate is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors has been indicated to be related with susceptibility to nonsyndromic cleft lip with or without cleft palate. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate. In the present study, we aimed to inspect the relationship between WNT3 (rs3809857 and rs9890413), WNT3A (rs752107 and rs3121310), and WNT10a rs201002930 (c.392 C>T) polymorphisms and nonsyndromic cleft lip with or without cleft palate in an Iranian population. The present case-control study was carried out on 120 unrelated nonsyndromic cleft lip with or without cleft palate patients and 112 healthy subjects. The variants were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The findings suggest that the rs3809857 polymorphism significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.16, 95% confidence interval = 0.03-0.75, P = 0.020, TT vs GG), recessive (odds ratio = 0.16, 95% confidence interval = 0.03-0.72, P = 0.009, TT vs GG + GT) inheritance models. The rs9890413 variant marginally decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.41, 95% confidence interval = 0.17-0.99, P = 0.047, AG vs AA) model. Regarding C392T variant, the findings revealed that this variant significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.24, 95% confidence interval = 0.10-0.58, P = 0.002, CT vs CC) and allele (odds ratio = 0.26, 95% confidence interval = 0.11-0.62, P = 0.002, T vs C) models. No significant association was observed between the rs752107 and rs3121310 variants and risk/protection of nonsyndromic cleft lip with or without cleft palate. Stratified analysis showed that WNT10a rs201002930 (c.392 C>T) significantly decreased the risk of cleft lip with cleft palate and cleft palate only. In summary, the results suggest an association between WNT genes polymorphisms and the risk nonsyndromic cleft lip with or without cleft palate in a sample of the southeast Iranian population. © 2018 Japanese Teratology Society.

Possible Estrogen Dependency in the Pathogenesis of Branchial Cleft Cysts.

PubMed

Raguse, Jan D; Anagnostopoulos, Ioannis; Doll, Christian; Heiland, Max; Jöhrens, Korinna

2017-01-01

Even though branchial cleft cysts are currently accepted as a congenital anomaly, there is often a long delay until clinical presentation; branchial cleft cysts classically appear in the second to fourth decade of life. Our observation of their occurrence in three pregnant women encouraged us to contemplate a possible hormonal influence. Immunohistological analysis was performed for the evaluation of the estrogen receptor alpha (ER α ) in paraffin-embedded tissue specimens of 16 patients with a diagnosis of branchial cleft cyst, with three of them being pregnant. Expression of ER α was detected within epithelial cells only in branchial cleft cysts in pregnant females; moreover, higher growth fractions (Ki-67/Mib1) were found. The fact that the estrogen receptor was expressed only in pregnant women, in contrast to 13 investigated cases, may suggest that the high level of estrogen in pregnancy is a possible explanation for the spontaneous growth of branchial cleft cysts.

Possible Estrogen Dependency in the Pathogenesis of Branchial Cleft Cysts

PubMed Central

Raguse, Jan D.; Jöhrens, Korinna

2017-01-01

Background Even though branchial cleft cysts are currently accepted as a congenital anomaly, there is often a long delay until clinical presentation; branchial cleft cysts classically appear in the second to fourth decade of life. Our observation of their occurrence in three pregnant women encouraged us to contemplate a possible hormonal influence. Methods Immunohistological analysis was performed for the evaluation of the estrogen receptor alpha (ERα) in paraffin-embedded tissue specimens of 16 patients with a diagnosis of branchial cleft cyst, with three of them being pregnant. Results Expression of ERα was detected within epithelial cells only in branchial cleft cysts in pregnant females; moreover, higher growth fractions (Ki-67/Mib1) were found. Conclusion The fact that the estrogen receptor was expressed only in pregnant women, in contrast to 13 investigated cases, may suggest that the high level of estrogen in pregnancy is a possible explanation for the spontaneous growth of branchial cleft cysts. PMID:29410959

The effectiveness of tonsillectomy and partial adenoidectomy on obstructive sleep apnea in cleft palate patients.

PubMed

Abdel-Aziz, Mosaad

2012-11-01

The most common cause of pediatric obstructive sleep apnea (OSA) is adenotonsillar hypertrophy (ATH). In cleft palate patients, however, the obstructive effects of ATH are more severe due to narrow airways. The aim of this study was to assess the effectiveness of tonsillectomy and/or partial adenoidectomy on OSA in cleft palate patients. Case series. Tonsillectomy and/or partial adenoidectomy was performed in 17 repaired cleft palate patients with tonsillar and/or adenoid hypertrophy and OSA. Apnea/hypopnea (A/H) index and minimum O(2) saturation were measured before and after surgery. In addition, because these patients are vulnerable to speech impairment after pharyngeal surgery, auditory perceptual assessment (APA) and nasometric assessment of speech were performed. The mean preoperative A/H index was 17.6 ± 3.9, and the mean preoperative minimum O(2) saturation was 88.7 ± 1.5%. Both parameters improved postoperatively, to 1.9 ± 2.3 and 93.7 ± 1.5% respectively, and the changes were significant (P < 0.001). In 12 cases (70.6%), A/H indexes were normalized following surgery. Associated comorbidities such as retrognathia and narrow pharyngeal airways may underlie incomplete recovery in some cases. There were no significant postoperative changes in APA and nasalance scores. In most cases, tonsillectomy and/or partial adenoidectomy is an effective method for treatment of OSA in repaired cleft palate patients presenting with tonsillar and/or adenoid hypertrophy. However, some cases may need further procedures to relieve airway obstruction due to associated comorbidities. Copyright © 2012 The American Laryngological, Rhinological, and Otological Society, Inc.

Speech characteristics after articulation therapy in children with cleft palate and velopharyngeal dysfunction - A single case experimental design.

PubMed

Derakhshandeh, Fatemeh; Nikmaram, Mohammadreza; Hosseinabad, Hedieh Hashemi; Memarzadeh, Mehrdad; Taheri, Masoud; Omrani, Mohammadreza; Jalaie, Shohreh; Bijankhan, Mahmood; Sell, Debbie

2016-07-01

The aim of this study was to investigate the impact of an intensive 10-week course of articulation therapy on articulation errors in cleft lip and palate patients who have Velopharyngeal Insufficiency (VPI), non-oral and passive cleft speech characteristics. Five children with cleft palate (+/-cleft lip) with VPI and non-oral and passive cleft speech characteristics underwent 40 intensive articulation therapies over 10 weeks in a single case experimental design. The percentage of non-oral CSCs (NCSCs), passive CSCs (PCSCs), stimulable consonants (SC), correct consonants in word imitation (CCI), and correct consonants in picture naming (CCN) were captured at baseline, during intervention and in follow up phases. Visual analysis and two effect size indexes of Percentage of Nonoverlapping Data and Percentage of Improvement Rate Difference were analyzed. Articulation therapy resulted in visible decrease in NCSCs for all 5 participants across the intervention phases. Intervention was effective in changing percentage of passive CSCs in two different ways; it reduced the PCSCs in three cases and resulted in an increase in PCSCs in the other two cases. This was interpreted as intervention having changed the non-oral CSCs to consonants produced within the oral cavity but with passive characteristics affecting manner of production including weakness, nasalized plosives and nasal realizations of plosives and fricatives. Percent SC increased throughout the intervention period in all five patients. All participants demonstrated an increase in percentage of CCI and CCN suggesting an increase in the consonant inventory. Follow-up data showed that all the subjects were able to maintain their ability to articulate learned phonemes correctly even after a 4-week break from intervention. This single case experimental study supports the hypothesis that speech intervention in patients with VPI can result in an improvement in oral placements and passive CSCs. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Spontaneous alteration from Rathke's cleft cyst to craniopharyngioma--possible involvement of transformation between these pathologies.

PubMed

Ogawa, Yoshikazu; Watanabe, Mika; Tominaga, Teiji

2014-12-01

Both Rathke's cleft cyst and craniopharyngioma are considered to arise from the remnants of Rathke's diverticulum despite the quite different histological characteristics. These two lesions may consist of a disease spectrum extending from Rathke's cleft cyst to craniopharyngioma. However, in spite of increasing evidence of these intermediate histologies, very few cases of the actual transformation from Rathke's cleft cyst to craniopharyngioma have been reported in the same patient. A 47-year-old man suffered from recurrent visual dysfunction. Aspiration and partial cystectomy was performed to a suprasellar massive cystic lesion. The histological diagnosis was Rathke's cleft cyst with a small component of squamous metaplasia. Seven months later, the cyst was re-expanded. The cyst wall was irregularly thickened. Re-operation was performed, and the thickened anterior wall was widely removed. Postoperative histological examination showed multiplication of stratified squamous epithelia forming a papillary arrangement. Ki-67 staining showed positive cells randomly distributed not only in the basal layer but also in various epithelial layers, with a labeling index of more than 20 %. The histological diagnosis was squamous papillary type of craniopharyngioma with high potential of proliferation. Subsequent immunohistochemical examinations showed positive reaction to cytokeratin 8 only in the initial epithelium and negative in the latter epithelium. The present case was thought as an actual evidence of the proposed link between Rathke's cleft cyst and craniopharyngioma. Cytokeratin 8 could be the important examination to differentiate Rathke's cleft cyst from craniopharyngioma.

Orthodontically guided bone transport in the treatment of alveolar cleft: A case report

PubMed Central

Gómez, Elena; Otero, Marta; Berraquero, Rosario; Wucherpfennig, Begona; Hernández-Godoy, Juan; Guiñales, Jorge; Vincent, Germán; Burgueño, Miguel

2016-01-01

Introduction Conventional treatments are sometimes not possible in certain alveolar cleft cases due to the severity of the gap which separates the fragments. Various management strategies have been proposed, including sequential surgical interventions or delaying treatment until adulthood to then carry out maxillary osteotomies. A further alternative approach has also been proposed, involving the application of bone transport techniques to mobilise the osseous fragments and thereby reduce the gap between lateral fragments and the premaxilla. Case Report We introduce the case of a 10-year-old patient who presented with a bilateral alveolar cleft and a severe gap. Stable occlusion between the premaxilla and the mandible was achieved following orthodontic treatment, making it inadvisable to perform a retrusive osteotomy of the premaxilla in order to close the alveolar clefts. Faced with this situation, it was decided we would employ a bone transport technique under orthodontic guidance using a dental splint. This would enable an osseous disc to be displaced towards the medial area and reduce the interfragmentary distance. During a second surgical intervention, closure of the soft tissues was performed and the gap was filled in using autogenous bone. Conclusions The use of bone transport techniques in selected cases allows closure of the osseous defect, whilst also preserving soft tissues and reducing the amount of bone autograft required. In our case, we were able to respect the position of the premaxilla and, at the same time, generate new tissues at both an alveolar bone and soft tissue level with results which have remained stable over the course of time. Key words:Alveolar cleft, bone transport, graft. PMID:26855699

Clinical characteristics of horses and foals diagnosed with cleft palate in a referral population: 28 cases (1988–2011)

PubMed Central

Shaw, Sarah D.; Norman, Tracy E.; Arnold, Carolyn E.; Coleman, Michelle C.

2015-01-01

The objective of this case series was to characterize the population, case presentations, and outcomes of 28 equids diagnosed with cleft palate over a 25-year period. The incidence of cleft palate was 0.04%. The median age at presentation was 2 mo (range: 1 d to 3 y). Fifty percent of the animals were < 2 mo old, 21% were ≥ 2 mo but < 1 y old, and 29% were 1 y of age or older. Males and females were nearly equally represented. Short-term outcomes included euthanasia in 50%, surgical repair in 11%, supportive care in 4%, and no treatment in 32% of cases; 46% of the animals survived to discharge. Defects involving both the hard and soft palate and/or aspiration pneumonia generally had less favorable outcomes. Though cleft palate is rare in horses, it should be considered as a differential diagnosis in horses of all ages with nasal discharge, a cough, a history of recurrent respiratory infections, poor growth, or chronic submandibular lymphadenopathy. Endoscopic evaluation of the pharynx may aid in earlier diagnosis and prognostication for owners. PMID:26130841

Excess Maternal Transmission of Markers in TCOF1 Among Cleft Palate Case-Parent Trios From Three Populations

PubMed Central

Sull, Jae Woong; Liang, Kung-Yee; Hetmanski, Jacqueline B.; Fallin, M. Daniele; Ingersoll, Roxanne G.; Park, Ji Wan; Wu-Chou, Yah-Huei; Chen, Philip K.; Chong, Samuel S.; Cheah, Felicia; Yeow, Vincent; Park, Beyoung Yun; Jee, Sun Ha; Jabs, Ethylin W.; Redett, Richard; Scott, Alan F.; Beaty, Terri H.

2009-01-01

Isolated cleft palate is among the most common human birth defects. The TCOF1 gene has been suggested as a candidate gene for cleft palate based on animal models. This study tests for association between markers in TCOF1 and isolated, nonsyndromic cleft palate using a case-parent trio design considering parent-of-origin effects. Case-parent trios from three populations (comprising a total of 81 case-parent trios) were genotyped for single nucleotide polymorphisms (SNPs) in the TCOF1 gene. We used the transmission disequilibrium test and the transmission asymmetry test on individual SNPs. When all trios were combined, the odds ratio for transmission of the minor allele, OR(transmission), was significant for SNP rs15251 (OR = 2.88, P = 0.007), as well as rs2255796 and rs2569062 (OR = 2.08, P = 0.03; OR = 2.43, P = 0.041; respectively) when parent of origin was not considered. The transmission asymmetry test also revealed one SNP (rs15251) showing excess maternal transmission significant at the P = 0.005 level (OR = 6.50). Parent-of-origin effects were assessed using the parent-of-origin likelihood ratio test on both SNPs and haplotypes. While the parent-of-origin likelihood ratio test was only marginally significant for this SNP (P = 0.136), analysis of haplotypes of rs2255796 and rs15251 suggested excess maternal transmission. Therefore, these data suggest TCOF1 may influence risk of cleft palate through a parent-of-origin effect. PMID:18688869

Effects of growth on maxillary distraction osteogenesis in cleft lip and palate.

PubMed

Doucet, Jean-Charles; Herlin, Christian; Bigorre, Michèle; Bäumler, Caroline; Subsol, Gérard; Captier, Guillaume

2013-12-01

The objective was to analyze the effects of growth on the long-term result of maxillary distraction osteogenesis (DO) in cleft lip and palate (CLP). Retrospective study of 24 CLP cases with long-term follow-up operated for maxillary DO using the Polley and Figueroa technique: 10 patients were distracted during growth, while 14 patients were operated after their growth spurt. Preoperative (T0), 6-12 months postoperative (T1), and ≥4 years postoperative (T2) cephalometric radiographs were evaluated. A classical cephalometric analysis was used to assess the treatment stability, and a Procrustes superimposition method was performed to assess local changes in the maxilla and the mandible. At T0, the mean age was of 11.9 ± 1.4 years for growing patient, and 17.9 ± 3.5 years for patient treated after their growth spurt (P < 0.001). Between T0 and T1, a greater increase of the SNA was shown in growing patients (P = 0.036), but the relapse was more important between T1 and T2, with a significant decrease of the SNA (P = 0.002) and ANB (P = 0.032) compared to the patients treated after their growth spurt. Although not significant, growing patients showed greater rotations of their palatal plane and mandibular plane. Maxillary DO in CLP does not correct the growth deficit inherent to the pathology. Overcorrection of at least 20% is advised during growth. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Interdisciplinary evaluation of consecutive patients with unilateral cleft lip and palate at age 6, 15, and 25 years: a concurrent standardized procedure and documentation by plastic surgeon; speech and language pathologist; ear, nose, and throat specialist; and orthodontist.

PubMed

Tindlund, Rolf S; Holmefjord, Anders; Eriksson, Jens-Christian Haug; Johnson, Gunnar E; Vindenes, Hallvard

2009-09-01

To evaluate surgical results, speech, hearing, and craniofacial morphology after primary cleft repair performed from 1973 to 1979. During the years 1972 to 1985, all primary cleft surgeries were performed by 1 plastic surgeon, using Tennison lip closure combined with a periosteoplasty on the clefted alveolus at age 3 months. By mobilizing mucoperiosteal flaps, bony bridges were induced in the alveolar process in approximately 60% of the cases. All patients had the soft palate closed at age 24 months by a pushback technique. All children with complete unilateral clefts without soft tissue bands (unilateral cleft lip and palate) primary operated on 1973 to 1979 were included in the material, except 3 patients with a syndrome and 2 patients of foreign ethnicity. The material involved 30 consecutive patients with unilateral cleft lip and palate (20 boys and 10 girls; 16 left-sided and 14 right-sided clefts) who were operated on. Standardized records including photos, radiographs, lateral cephalograms, plaster model, and recording of speech and hearing were collected according to the treatment protocol at age 6, 15, and approximately 25 years. Evaluation included craniofacial descriptive cephalometric analysis, dentoalveolar morphology, dentofacial aesthetics, speech concerning articulation and nasality, and hearing status. Number of surgical interventions after primary surgery was recorded. Secondary revisions and candidates for orthognathic surgery are reported. Ten consecutive patients (case nos. 11-20) are demonstrated as clinical reports. : This longitudinal study shows how a multidisciplinary evaluation adequate for intercenter comparison can be performed when standardized procedures, registrations, and documentations are available.

[Anesthesia in a child operated for cleft lip associated with Patau's syndrome].

PubMed

Kamal, Manoj; Varghese, Don; Bhagde, Jeet; Singariya, Geeta; Simon, Annie Miju; Singh, Amar

Patients with Patau's syndrome (Trisomy 13) have multiple craniofacial, cardiac, neurological and renal anomalies with very less life expectancy. Among craniofacial anomalies cleft lip and palate are common. These craniofacial and cardiac anomalies present difficulties with anesthesia. We therefore describe the anesthetic management in the case of a Trisomy 13 child for operated for cleft lip at 10 months of age. Copyright © 2017. Publicado por Elsevier Editora Ltda.

[The application of facial liposuction and fat grafting in the remodeling of facial contour].

PubMed

Wen, Huicai; Ma, Li; Sui, Ynnpeng; Jian, Xueping

2015-03-01

To investigate the application of facial liposuction and fat grafting in the remodeling of facial contour. From Nov. 2008 to Mar. 2014, 49 cases received facial liposuction and fat grafting to improve facial contours. Subcutaneous facial liposuction with tumescent technique and chin fat grafting were performed in all the cases, buccal fat pad excision of fat in 7 cases, the masseter injection of botulinum toxin type A in 9 cases, temporal fat grafting in 25 cases, forehead fat grafting in 15 cases. Marked improvement was achieved in all the patients with stable results during the follow-up period of 6 - 24 months. Complications, such as asymmetric, unsmooth and sagging were retreated with acceptance results. Combination application of liposuction and fat grafting can effectively and easily improve the facial contour with low risk.

The correction of maxillary defciency with internal distraction devices: a multidisciplinary approach.

PubMed

Oz, A Alper; Ozer, Mete; Eroglu, Lütfi; Ozdemir, Oguz Suleyman

2013-09-01

The purpose of this case report is to present the orthodontic, surgical and restorative treatments in the case of an operated cleft lip and palate and severe maxillary defciency in a 14-year-old female patient. Only orthodontic treatment could be ineffcient for cleft lip and palate patients characterized with maxillary hypoplasia. Orthodontic and surgical treatment shows suffcient results, especially with severe skeletal defciency. A cleft lip and palate patient required complex multidisciplinary treatment to preserve health and restore esthetics. Dental leveling and alignment of the maxillary and mandibular teeth were provided before the surgery. Maxillary advancement and clockwise rotation of the maxillary-mandibular complex was applied by a Le Fort 1 osteotomy with two internal distraction devices. After the active treatment including orthodontic treatment and orthognathic surgery, upper full mouth ceramic restoration was applied. This report shows the efficiency of internal distraction devices in cleft lip palate patients and exemplifes the multidisciplinary care required for such diffcult cases. Clinical signifcance: Stable improved occlusion and skeletal relations were observed after a follow-up examination period of 12 months.

Palatogenesis

PubMed Central

Levi, Benjamin; Brugman, Samantha; Wong, Victor W; Grova, Monica; Longaker, Michael T

2011-01-01

Cleft palate represents the second most common birth defect and carries substantial physiologic and social challenges for affected patients, as they often require multiple surgical interventions during their lifetime. A number of genes have been identified to be associated with the cleft palate phenotype, but etiology in the majority of cases remains elusive. In order to better understand cleft palate and both surgical and potential tissue engineering approaches for repair, we have performed an in-depth literature review into cleft palate development in humans and mice, as well as into molecular pathways underlying these pathologic developments. We summarize the multitude of pathways underlying cleft palate development, with the transforming growth factor β superfamily being the most commonly studied. Furthermore, while the majority of cleft palate studies are performed using a mouse model, studies focusing on tissue engineering have also focused heavily on mouse models. A paucity of human randomized controlled studies exists for cleft palate repair, and so far, tissue engineering approaches are limited. In this review, we discuss the development of the palate, explain the basic science behind normal and pathologic palate development in humans as well as mouse models and elaborate on how these studies may lead to future advances in palatal tissue engineering and cleft palate treatments. PMID:21964245

How many breaks do we need to CATCH on 22q11?

DOE Office of Scientific and Technical Information (OSTI.GOV)

Dallapiccola, B.; Pizzuti, A.; Novelli, G.

1996-07-01

The major clinical manifestations of DiGeorge syndrome (DGS; MIM 188400), which reflect developmental abnormalities of the 3d and 4th pharyngeal pouch derivatives, include thymus- and parathyroid-gland aplasia or hypoplasia and conotruncal cardiac malformations. The additional dysmorphic facial features, such as hypertelorism, cleft lip and palate, bifid uvula, and small/low-set ears, which are also common, presumably reflect the same defect. The DGS phenotype has been associated with chromosome abnormalities and, sometimes, is the effect of teratogenic agents such as retinoic acid and alcohol. 53 refs., 1 fig.

Maxillary advancement using distraction osteogenesis with intraoral device.

PubMed

Takigawa, Yoko; Uematsu, Setsuko; Takada, Kenji

2010-11-01

This article describes the surgical orthodontic treatment of maxillary hypoplasia in a patient with cleft lip and palate using maxillary distraction osteogenesis with internal maxillary distractors. Maxillary advancement was performed to correct the retrusive maxillary facial profile and Class III malocclusion. Rotational movement of the distraction segment was made to correct the upper dental midline. Although maxillary advancement was insufficient because of unexpected breakage of the intraoral distractor after completion of the distraction, skeletal traction with a face mask compensated for the shortage. Successful esthetic improvement and posttreatment occlusal stability were achieved with no discernible relapse after 2 years of retention.

A Case of First Branchial Cleft Fistula Presenting with an External Opening on the Root of the Helical Crus

PubMed Central

2018-01-01

Background First branchial cleft anomalies (FBCA) are rare clinical entities of the head and neck. Typically, the tract of the FBCA begins in the external auditory canal and ends in the postauricular or submandibular region. Case Presentation We present a case of a 23-year-old man who had a first branchial cleft fistula with atypical opening on the root of the helical crus. Complete excision of the tract, including the cuff of surrounding cartilage, was performed. Histopathology revealed a fistular tract lined with squamous epithelium. To our knowledge, this is the first case to be reported of type I FBCA with an opening on the root of the helical crus. The low incidence and varied presentation often result in misdiagnosis and inappropriate treatment. Conclusions In the patients with FBCA, careful recognition of atypical variants is essential for complete excision. PMID:29560006

Branchial cleft cyst encircling the hypoglossal nerve

PubMed Central

Long, Kristin L.; Spears, Carol; Kenady, Daniel E.

2013-01-01

Branchial cleft anomalies are a common cause of lateral neck masses and may present with infection, cyst enlargement or fistulas. They may affect any of the nearby neck structures, causing compressive symptoms or vessel thrombosis. We present a case of a branchial cleft cyst in a 10-year-old boy who had been present for 1year. At the time of operation, the cyst was found to completely envelop the hypoglossal nerve. While reports of hypoglossal nerve palsies due to external compression from cysts are known, we believe this to be the first report of direct nerve involvement by a branchial cleft cyst. PMID:24963902

A New Classification System for Unilateral Cleft Lip and Palate Infants to assist Presurgical Infant Orthopedics.

PubMed

Daigavane, P S; Hazarey, P V; Niranjane, P; Vasudevan, S D; Thombare, B R; Daigavane, S

2015-01-01

The proposed advantages of pre-surgical naso-alveolar moulding (PNAM) are easy primary lip repair which heals under minimum tension reducing the scar formation and improving the aesthetic results in addition to reshaping of alar cartilage and improvement of nasal symmetry.However, the anatomy and alveolar morphology varies for each cleft child; the procedure for PNAM differs accordingly. In an attempt to categorize unilateral cleft lip and palate cases as per anatomical variations, a new classification system has been proposed. This classification aims to give an insight in unilateral cleft morphology based on which modification in PNAM procedure could be done.

Management of the Amniotic Band Syndrome with Cleft Palate: Literature Review and Report of a Case

PubMed Central

Cortez-Ortega, Carolina; Flores-Velázquez, Joselín; Ruiz-Rodríguez, Socorro; Noyola-Frías, Miguel Ángel; Santos-Díaz, Miguel Ángel

2017-01-01

Amniotic Band Syndrome (ABS) is a group of congenital malformations that includes the majority of typical constriction rings and limb and digital amputations, together with major craniofacial, thoracic, and abdominal malformations. The syndrome is caused by early rupture of the amniotic sac. Some of the main oral manifestations include micrognathia, hyperdontia, and cleft lip with or without cleft palate, which is present in 14.6% of patients with this syndrome. The purpose of this report was to describe the clinical characteristics and the oral treatment provided to a 6-month-old male patient affected with ABS with cleft lip and palate. PMID:28246561

First branchial cleft anomaly presenting as a recurrent post-auricular abscess

PubMed Central

Siddiq, M

2003-01-01

Failure to recognise these unusual cases may result in misdiagnosis, inadequate treatment, and subsequent recurrence. Further definitive surgery may thus be complicated. A case is reported of a patient who attended accident and emergency on three occasions with an infected post-auricular cyst, which was treated by incision and drainage. It was subsequently found to be a first branchial cleft anomaly. PMID:12533389

Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL [+-] P)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Shaw, D.; Field, L.; Ray, A.

1993-11-01

Chenevix-Trench et al. (1992) reported a significant difference between nonsyndromic cleft lip with or without cleft palate (CL [+-] P) cases and unrelated controls in the frequency of alleles at the retinoic acid receptor alpha (RARA) PstI RFLP located at 17q21.1. They also observed borderline significant (P = .055) differences between allele frequencies in subjects with cleft lip and palate (CL + P) compared with those with cleft lip only (CL). Retinoic acid (RA) is a known teratogen capable of producing cleft palate in rodents (Abbott and Birnbaum 1990). Chenevix-Tench et al. (1992) hypothesized that variation in susceptibility to themore » effects of RA in humans may result from alterations at the RARA locus. We have investigated association and linkage between CL [+-] P and a microsatellite marker (D17S579) located at 17q21 (Hall et al. 1992), selected for its proximity to RARA, in 14 extended multiplex families from rural West Bengal, India.« less

Contribution of malocclusion and female facial attractiveness to smile esthetics evaluated by eye tracking.

PubMed

Richards, Michael R; Fields, Henry W; Beck, F Michael; Firestone, Allen R; Walther, Dirk B; Rosenstiel, Stephen; Sacksteder, James M

2015-04-01

There is disagreement in the literature concerning the importance of the mouth in overall facial attractiveness. Eye tracking provides an objective method to evaluate what people see. The objective of this study was to determine whether dental and facial attractiveness alters viewers' visual attention in terms of which area of the face (eyes, nose, mouth, chin, ears, or other) is viewed first, viewed the greatest number of times, and viewed for the greatest total time (duration) using eye tracking. Seventy-six viewers underwent 1 eye tracking session. Of these, 53 were white (49% female, 51% male). Their ages ranged from 18 to 29 years, with a mean of 19.8 years, and none were dental professionals. After being positioned and calibrated, they were shown 24 unique female composite images, each image shown twice for reliability. These images reflected a repaired unilateral cleft lip or 3 grades of dental attractiveness similar to those of grades 1 (near ideal), 7 (borderline treatment need), and 10 (definite treatment need) as assessed in the aesthetic component of the Index of Orthodontic Treatment Need (AC-IOTN). The images were then embedded in faces of 3 levels of attractiveness: attractive, average, and unattractive. During viewing, data were collected for the first location, frequency, and duration of each viewer's gaze. Observer reliability ranged from 0.58 to 0.92 (intraclass correlation coefficients) but was less than 0.07 (interrater) for the chin, which was eliminated from the study. Likewise, reliability for the area of first fixation was kappa less than 0.10 for both intrarater and interrater reliabilities; the area of first fixation was also removed from the data analysis. Repeated-measures analysis of variance showed a significant effect (P <0.001) for level of attractiveness by malocclusion by area of the face. For both number of fixations and duration of fixations, the eyes overwhelmingly were most salient, with the mouth receiving the second most visual attention. At times, the mouth and the eyes were statistically indistinguishable in viewers' gazes of fixation and duration. As the dental attractiveness decreased, the visual attention increased on the mouth, approaching that of the eyes. AC-IOTN grade 10 gained the most attention, followed by both AC-IOTN grade 7 and the cleft. AC-IOTN grade 1 received the least amount of visual attention. Also, lower dental attractiveness (AC-IOTN 7 and AC-IOTN 10) received more visual attention as facial attractiveness increased. Eye tracking indicates that dental attractiveness can alter the level of visual attention depending on the female models' facial attractiveness when viewed by laypersons. Copyright © 2015 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

[Reconstruction of facial soft tissue defects with pedicled expanded flaps].

PubMed

Yangqun, Li; Yong, Tang; Wen, Chen; Zhe, Yang; Muxin, Zhao; Lisi, Xu; Chunmei, Hu; Yuanyuan, Liu; Ning, Ma; Jun, Feng; Weixin, Wang

2014-09-01

To investigate the application of pedicled expanded flaps for the reconstruction of facial soft tissue defects. The expanded skin flaps, pedicled with orbicularis oculi muscle, submental artery, the branch of facial artery, superficial temporal artery, interior upper arm artery, had similar texture and color as facial soft tissue. The pedicled expanded flaps have repaired the facial soft tissue defects. Between Jan. 2003 to Dec. 2013, 157 cases with facial soft tissue defects were reconstructed by pedicled expanded flaps. Epidermal necrosis happened at the distal end of 8 expanded flaps, pedicled with interior upper arm artery(4 cases), orbicularis oculi muscle(3 cases) and submental artery(1 case), which healed spontaneously after dressing. All the other flaps survived completely with similar color and inconspicuous scar. 112 cases were followed up for 8 months to 8 years. Satisfactory results were achieved in 75 cases. 37 cases with hypertrophic scar at incisions need secondary operation. Island pedicled expanded flap with similar texture and color as facial soft tissue is suitable for facial soft tissue defects. The facial extra-incision and large dog-ear deformity could be avoided.

MTHFR c.677C>T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile.

PubMed

Ramírez-Chau, C; Blanco, R; Colombo, A; Pardo, R; Suazo, J

2016-10-01

The functional variant within the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene c.677C>T, producing alterations in folate metabolism, has been associated with the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P). We assessed this association in a Chilean population using a combined analysis of case-control and case-parent trio samples. Samples of 165 cases and 291 controls and 121 case-parent trios (sharing the cases) were genotyped. Odds ratio (OR) was estimated for case-control (allele and genotype frequency differences), and this result was confirmed by allele transmission distortion in trios. Due to that these samples are not independent, a combined OR was also computed. Maternal genotype effect was additionally evaluated based on a log-linear method. Borderline but not significant OR (1.28; CI 0.97-1.69) was observed for risk allele (T) in the case-control sample. However, triad sample showed a significant association (OR 1.56: CI 1.09-2.25) which was confirmed by the combined OR (1.37; CI 1.11-1.71). Maternal genotype has been also associated with the phenotype (P = 0.002). In contrast to previous reports considering Chilean subjects, our results demonstrated that the offspring and maternal genotypes for MTHFR c.677C>T variant are strongly associated with NSCL/P in this Chilean population. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

A Survey of Congenital Heart Disease and Other Organic Malformations Associated with Different Types of Orofacial Clefts in Eastern China

PubMed Central

Sun, Ting; Tian, Hua; Wang, Changqian; Yin, Ping; Zhu, Yaqin; Chen, Xianghua; Tang, Zhengde

2013-01-01

Background A high incidence of orofacial clefts is reported in China, but no data has shown the relation between cleft types and the incidence of other defects so far. The aim of this study is to assess the incidence of congenital heart diseases and other organic defects associated with different types of orofacial clefts. Methodology and Principal Findings All children with orofacial clefts, which were sought out from the Health Information System of Shanghai Ninth People's Hospital between 1st Jan 2009 and 30th Dec 2011, were enrolled in this study. All subjects underwent a thorough examination and grouped by the cleft phenotype. The numbers and types of other organic defects were recorded and analyzed statistically using SPSS 17.0. Of 2180 cases reported as having orofacial clefts, 657 (30.1%) had other congenital abnormalities, which were significantly more common in cleft palate (47.9% (329/687)) than that in cleft lip (10.6% (80/755)) or cleft lip and palate (33.6% (248/738)) (P<0.01). In subgroups, unilateral cleft lip and palate had a statistically higher incidence of associated abnormalities than bilateral cleft lip and palate (P<0.01). The most common malformation was congenital heart disease, which counted 45.1% (296/657) of all malformations. Disorders of the central nervous system (14.3%(94/657)) and Skeletal anomalies (13.1%(86/657)) were also frequently associated. Additionally, the most common defect in heart was atrial septal defect, which was 39.7% (118/296) of all congenital heart diseases. Conclusions and Significance As the high incidence of heart defects and other organic abnormalities in the children with cleft palate in Eastern China, special attention should be paid to them and echocardiography should be a proposed examination in the evaluation of children with cleft palate before any surgical correction being executed. PMID:23349958

A survey of congenital heart disease and other organic malformations associated with different types of orofacial clefts in Eastern China.

PubMed

Sun, Ting; Tian, Hua; Wang, Changqian; Yin, Ping; Zhu, Yaqin; Chen, Xianghua; Tang, Zhengde

2013-01-01

A high incidence of orofacial clefts is reported in China, but no data has shown the relation between cleft types and the incidence of other defects so far. The aim of this study is to assess the incidence of congenital heart diseases and other organic defects associated with different types of orofacial clefts. All children with orofacial clefts, which were sought out from the Health Information System of Shanghai Ninth People's Hospital between 1(st) Jan 2009 and 30(th) Dec 2011, were enrolled in this study. All subjects underwent a thorough examination and grouped by the cleft phenotype. The numbers and types of other organic defects were recorded and analyzed statistically using SPSS 17.0. Of 2180 cases reported as having orofacial clefts, 657 (30.1%) had other congenital abnormalities, which were significantly more common in cleft palate (47.9% (329/687)) than that in cleft lip (10.6% (80/755)) or cleft lip and palate (33.6% (248/738)) (P<0.01). In subgroups, unilateral cleft lip and palate had a statistically higher incidence of associated abnormalities than bilateral cleft lip and palate (P<0.01). The most common malformation was congenital heart disease, which counted 45.1% (296/657) of all malformations. Disorders of the central nervous system (14.3%(94/657)) and Skeletal anomalies (13.1%(86/657)) were also frequently associated. Additionally, the most common defect in heart was atrial septal defect, which was 39.7% (118/296) of all congenital heart diseases. As the high incidence of heart defects and other organic abnormalities in the children with cleft palate in Eastern China, special attention should be paid to them and echocardiography should be a proposed examination in the evaluation of children with cleft palate before any surgical correction being executed.

Practical Repair Method for Unilateral Cleft Lips: Straight-Line Advanced Release Technique.

PubMed

Baek, Rong-Min; Choi, Jun-Ho; Kim, Baek-Kyu

2016-04-01

Straight-line closure repair of unilateral cleft lips was first introduced in the 1840s, and since then, many different techniques have been attempted for cleft repair. However, these methods have several disadvantages and are difficult to adopt. In this study, we describe our novel technique, known as Straight-Line Advanced Release Technique (StART), and its application in treating several cases of unilateral cleft lip. The preoperative design of the surgical method is drawn on the skin, the vermilion, and the oral mucosa. A total of 13 points are marked (points 0-12). The A flap, B flap, triangular flap, M (medial mucosal) flap, and L (lateral mucosal) flap are designed. After completion of the preoperative marking, the wide dissection is performed to separate the orbicularis oris muscle completely from the abnormally inserted bony structure and the enveloped skin-mucosal flap. The freed orbicularis oris muscle is then reconstructed with full width. After all planes of the lip wound are closed, a straight vertical skin suture line is achieved without any unnecessary transverse scar. Unilateral cleft lip repair using StART was conducted in 145 patients between 1993 and 2012. Cases of microform cleft lip were excluded. A total of 21 patients (14%) required a secondary operation on the lip after the first unilateral cheiloplasty. In all patients, satisfactory surgical outcomes were obtained with an indistinct straight-lined scar and a well-aligned lip contour. To acquire a natural and balanced shape in unilateral cleft lip repair, we recommend the novel StART.

Transoral robotic-assisted laryngeal cleft repair in the pediatric patient.

PubMed

Leonardis, Rachel L; Duvvuri, Umamaheswar; Mehta, Deepak

2014-09-01

To assess the feasibility of performing robotic-assisted laryngeal cleft repair in the pediatric population. Retrospective chart review at a tertiary academic children's hospital. All patients underwent transoral robotic-assisted laryngeal cleft repair from March 2011 to June 2013. Demographics, robotic docking time, operative time, and postoperative course and swallowing function were collected and analyzed. Five children, three male and two female, underwent successful transoral robotic-assisted laryngeal cleft repair for closure of a type I laryngeal cleft. Mean age at time of surgery was 21.6 months (standard deviation 6.1 months; range, 15-29 months). From case 1 to case 5, robotic docking time (18-10 minutes), robotic operative time (102-36 minutes), and total operating room time (173-105 minutes) decreased. There were no complications with time until extubation (range, 2-3 days), length of intensive care unit stay (range, 3-4 days), and total hospital stay (range, 3-5 days) within acceptable range following laryngeal cleft repair. Modified barium swallow (two patients) or fiberoptic endoscopic evaluation of swallowing (three patients) was performed postoperatively, with all patients showing complete resolution of penetration and aspiration. In addition, all patients experienced subjective resolution of dysphagia and/or choking with feeds postoperatively. Transoral robotic-assisted laryngeal cleft repair may offer specific advantages over a traditional endoscopic approach. In our experience, the procedure was well tolerated and associated with definitive surgical cure in all patients. The scope of robotic technology continually expands and should be considered a feasible tool at an institution-based level. © 2014 The American Laryngological, Rhinological and Otological Society, Inc.

Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.

PubMed

Peltekova, Iskra T; Hurteau-Millar, Julie; Armour, Christine M

2014-12-01

Chromosome 10q deletions are rare and phenotypically diverse. Such deletions differ in length and occur in numerous regions on the long arm of chromosome 10, accounting for the wide clinical variability. Commonly reported findings include dysmorphic facial features, microcephaly, developmental delay, and genitourinary abnormalities. Here, we report on a female patient with a novel interstitial 5.54 Mb deletion at 10q24.31-q25.1. This patient had findings in common with a previously reported patient with an overlapping deletion, including renal anomalies and an orofacial cleft, but also demonstrated lobar holoprosencephaly and a Dandy-Walker malformation, features which have not been previously reported with 10q deletions. An analysis of the region deleted in our patient showed numerous genes, such as KAZALD1, PAX2, SEMA4G, ACTRA1, INA, and FGF8, whose putative functions may have played a role in the phenotype seen in our patient. © 2014 Wiley Periodicals, Inc.

Evaluation of secondary alveolar bone grafting outcomes performed after canine eruption in complete unilateral cleft lip and palate.

PubMed

Lorenzoni, Diego Coelho; Janson, Guilherme; Bastos, Juliana Cunha; Carvalho, Roberta Martinelli; Bastos, José Carlos; de Cássia Moura Carvalho Lauris, Rita; Henriques, José Fernando Castanha; Ozawa, Terumi Okada

2017-01-01

Evaluate the results of secondary alveolar bone grafting (SABG) in patients with complete unilateral cleft lip and palate (UCLP), operated after permanent canine eruption (CE). Seventy-four periapical radiographs from patients with complete UCLP (mean age 14 years) submitted to SABG were retrospectively analyzed for the amount of bone in the cleft site through the Bergland and Chelsea scales. Of the cases, 47.3 % was classified as Bergland type I and Chelsea type A, 35.2 % as type II/C, 6.7 % as type III/D, and 10.8 % as type IV/failure. When the canine was moved into the grafted area, the success rate (type I/A) was 56.8 %; for cases in which the space was maintained for an implant or prosthetic finishing, the index was 45.8 %; however, this difference was not statistically significant. Even in advanced ages, after permanent canine eruption, SABG can be considered a highly successful procedure. This research shows good results of secondary alveolar bone grafting performed in patients with unilateral complete cleft lip and palate, even when it was performed after eruption of the permanent canine in the cleft area.

Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities.

PubMed

Tonni, Gabriele; Lituania, Mario; Chitayat, David; Bonasoni, Maria Paola; Keating, Sarah; Thompson, Megan; Shannon, Patrick

2014-12-01

Trisomy 9 is a rare chromosomal abnormality usually associated with first-trimester miscarriage; few fetuses survive until the second trimester. We report two new cases of complete trisomy 9 that both present unusual phenotypic associations, and we analyze the genetic pathway involved in this chromosomal abnormality. The first fetus investigated showed Dandy-Walker malformation, cleft lip, and cleft palate) at the second trimester scan. Cardiovascular abnormalities were characterized by a right-sided, U-shaped aortic arch associated with a ventricular septal defect (VSD). Symmetrical intrauterine growth restriction and multicystic dysplastic kidney disease were associated findings. The second fetus showed a dysmorphic face, bilateral cleft lip, hypoplastic corpus callosum, and a Dandy-Walker malformation. Postmortem examination revealed cardiovascular abnormalities such as persistent left superior vena cava draining into the coronary sinus, membranous ventricular septal defect, overriding aorta, pulmonary valve with two cusps and three sinuses, and the origin of the left subclavian artery distal to the junction of ductus arteriosus and aortic arch. Complete trisomy 9 may result in a wide spectrum of congenital abnormalities, and the presented case series contributes further details on the phenotype of this rare aneuploidy. Copyright © 2014. Published by Elsevier B.V.

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

PubMed

Brito, Luciano Abreu; Yamamoto, Guilherme Lopes; Melo, Soraia; Malcher, Carolina; Ferreira, Simone Gomes; Figueiredo, Joana; Alvizi, Lucas; Kobayashi, Gerson Shigeru; Naslavsky, Michel Satya; Alonso, Nivaldo; Felix, Temis Maria; Zatz, Mayana; Seruca, Raquel; Passos-Bueno, Maria Rita

2015-11-01

Nonsyndromic orofacial cleft (NSOFC) is a complex disease of still unclear genetic etiology. To investigate the contribution of rare epithelial cadherin (CDH1) gene variants to NSOFC, we target sequenced 221 probands. Candidate variants were evaluated via in vitro, in silico, or segregation analyses. Three probably pathogenic variants (c.760G>A [p.Asp254Asn], c.1023T>G [p.Tyr341*], and c.2351G>A [p.Arg784His]) segregated according to autosomal dominant inheritance in four nonsyndromic cleft lip with or without cleft palate (NSCL/P) families (Lod score: 5.8 at θ = 0; 47% penetrance). A fourth possibly pathogenic variant (c.387+5G>A) was also found, but further functional analyses are needed (overall prevalence of CDH1 candidate variants: 2%; 15.4% among familial cases). CDH1 mutational burden was higher among probands from familial cases when compared to that of controls (P = 0.002). We concluded that CDH1 contributes to NSCL/P with mainly rare, moderately penetrant variants, and CDH1 haploinsufficiency is the likely etiological mechanism. © 2015 WILEY PERIODICALS, INC.

Detection of orbicularis oris muscle defects in first degree relatives of cleft lip children using ultrasound.

PubMed

Mittal, M; Maheshwari, N; Ahlawat, K; Sharma, V; Sultan, A; Chopra, R

2012-01-01

The severity of cleft lip (CL) varies considerably from complete bilateral CL and palate at one end of the spectrum to a minimal CL at the other. In some cases of microform clefting, there may be no visible manifestation of the defect on the lip surface (i.e., the defect is occult) and no residual functional deficit. This study used high resolution ultrasonography to detect subclinical anomalies of orbicularis oris muscle (OOM) in first degree relatives of CL +- cleft palate children and compared it with controls. Thirty relatives of 25 children with non-syndromic CL or CL+ CP were identified for the study. Thirty subjects having negative family history of CL/P in three generations and absence of any minimal cleft features were taken as controls. Ultrasound scans of OOM of all the controls and relatives were taken. Statistical analysis was performed using standard χ2 tests with Yates correction. Defects were seen in 13.3% of relatives and no defects were seen in controls, this was not statistically significant. The data support the hypothesis that subclinical CL cases with subepithelial OOM defects do exist and Orbicularis oris discontinuities represent the mildest form of CL.

Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

PubMed

McVeigh, Terri P; Banka, Siddharth; Reardon, William

2015-10-01

Kabuki syndrome is a rare genetic malformation syndrome that is characterized by distinct facies, structural defects and intellectual disability. Kabuki syndrome may be caused by mutations in one of two histone methyltransferase genes: KMT2D and KDM6A. We describe a male child of nonconsanguineous Irish parents presenting with multiple malformations, including bilateral extreme microphthalmia; cleft palate; congenital diaphragmatic hernia; duplex kidney; as well as facial features of Kabuki syndrome, including interrupted eyebrows and lower lid ectropion. A de-novo germline mutation in KMT2D was identified. Whole-exome sequencing failed to reveal mutations in any of the known microphthalmia/anopthalmia genes. We also identified four other patients with Kabuki syndrome and microphthalmia. We postulate that Kabuki syndrome may produce this type of ocular phenotype as a result of extensive interaction between KMT2D, WAR complex proteins and PAXIP1. Children presenting with microphthalmia/anophthalmia should be examined closely for other signs of Kabuki syndrome, especially at an age where the facial gestalt might be less readily appreciable.

Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations.

PubMed

Sull, Jae Woong; Liang, Kung-Yee; Hetmanski, Jacqueline B; Fallin, M Daniele; Ingersoll, Roxanne G; Park, Ji Wan; Wu-Chou, Yah-Huei; Chen, Philip K; Chong, Samuel S; Cheah, Felicia; Yeow, Vincent; Park, Beyoung Yun; Jee, Sun Ha; Jabs, Ethylin W; Redett, Richard; Scott, Alan F; Beaty, Terri H

2008-09-15

Isolated cleft palate is among the most common human birth defects. The TCOF1 gene has been suggested as a candidate gene for cleft palate based on animal models. This study tests for association between markers in TCOF1 and isolated, nonsyndromic cleft palate using a case-parent trio design considering parent-of-origin effects. Case-parent trios from three populations (comprising a total of 81 case-parent trios) were genotyped for single nucleotide polymorphisms (SNPs) in the TCOF1 gene. We used the transmission disequilibrium test and the transmission asymmetry test on individual SNPs. When all trios were combined, the odds ratio for transmission of the minor allele, OR(transmission), was significant for SNP rs15251 (OR = 2.88, P = 0.007), as well as rs2255796 and rs2569062 (OR = 2.08, P = 0.03; OR = 2.43, P = 0.041; respectively) when parent of origin was not considered. The transmission asymmetry test also revealed one SNP (rs15251) showing excess maternal transmission significant at the P = 0.005 level (OR = 6.50). Parent-of-origin effects were assessed using the parent-of-origin likelihood ratio test on both SNPs and haplotypes. While the parent-of-origin likelihood ratio test was only marginally significant for this SNP (P = 0.136), analysis of haplotypes of rs2255796 and rs15251 suggested excess maternal transmission. Therefore, these data suggest TCOF1 may influence risk of cleft palate through a parent-of-origin effect. Copyright 2008 Wiley-Liss, Inc.

An unusual otoscopic finding associated with a type II first branchial cleft anomaly.

PubMed

Ebelhar, A J; Potts, K

2012-03-01

We report an interesting case involving a child with a branchial cleft anomaly with two fistulous tracts, one of which was associated with an unusual otoscopic finding. A seven-year-old girl presented with an apparent type II first branchial cleft cyst after an acute infection. Parotidectomy and excision of the tract were performed, with subsequent development of pre-auricular swelling three months later. Further surgery was performed to remove a second duplication anomaly of the external auditory canal. Otomicroscopy showed a fibrous band arising from the wall of the canal and attached to the tympanic membrane at the umbo. Otoscopic findings on physical examination can be important diagnostic clues in the early recognition of branchial cleft anomalies. The classification system proposed by Work may fail to describe some branchial cleft lesions.

Maternal exposure to ozone and PM{sub 2.5} and the prevalence of orofacial clefts in four U.S. states

DOE Office of Scientific and Technical Information (OSTI.GOV)

Zhou, Ying, E-mail: yzhou2@cdc.gov

Background: While there is some evidence that maternal exposure to ambient air pollution is associated with orofacial clefts in offspring, the epidemiologic studies have been largely equivocal. We evaluated whether maternal exposure to elevated county-level ambient fine particulate matter with aerodynamic diameter ≤2.5 µm (PM{sub 2.5}) and ozone during early gestation was associated with a higher prevalence of orofacial clefts. Methods: Birth data consisting of 4.7 million births from 2001 to 2007 were obtained from National Birth Defects Prevention Network for four states — Arizona, Florida, New York (excluding New York City), and Texas. The air pollution exposure assessment formore » gestational weeks 5–10 was based on county-level average concentrations of PM{sub 2.5} and ozone data generated using a Bayesian fusion model available through CDC's Environmental Public Health Tracking Network. Two outcomes were analyzed separately: cleft lip with or without cleft palate, cleft palate alone. In logistic regression analyses, we adjusted for factors that were suspected confounders or modifiers of the association between the prevalence of orofacial clefts and air pollution, i.e., infant sex, race-ethnicity, maternal education, smoking status during pregnancy, whether this was mother's first baby, maternal age. Results: Each 10 µg/m{sup 3} increase in PM{sub 2.5} concentration was significantly associated with cleft palate alone (OR =1.43, 95% CI: 1.11–1.86). There was no significant association between PM{sub 2.5} concentration and cleft lip with or without cleft palate. No associations were observed between ozone exposure and the two outcomes of orofacial clefts. Conclusions: Our study suggests that PM{sub 2.5} significantly increased the risk of cleft palate alone, but did not change the incidence of cleft lip with or without palate. Ozone levels did not correlate with incidence of orofacial clefts. - Highlights: • This is a large study with about 4.7 million births and 7000 orofacial cleft cases. • PM{sub 2.5} significantly increased the risk of cleft palate alone. • PM{sub 2.5} did not change the incidence of cleft lip with or without palate. • Ozone levels did not correlate with incidence of orofacial clefts.« less

Endoscope-assisted approach to excision of branchial cleft cysts.

PubMed

Teng, Stephanie E; Paul, Benjamin C; Brumm, John D; Fritz, Mark; Fang, Yixin; Myssiorek, David

2016-06-01

The purpose of this study is to describe an endoscope-assisted surgical technique for the excision of branchial cleft cysts and compare it to the standard approach. Retrospective case series review. Twenty-seven cases described as branchial cleft excisions performed by a single surgeon at one academic medical center were identified between 2007 and 2014. Twenty-five cases (8 endoscopic, 17 standard approach) were included in the study. Cases were excluded if final pathology was malignant. Patient charts were reviewed, and two techniques were compared through analysis of incision size, operative time, and surgical outcomes. This study showed that the length of incision required for the endoscopic approach (mean = 2.13 ± 0.23) was significantly less than that of the standard approach (mean = 4.10 ± 1.46, P = 0.008) despite the fact that there was no significant difference in cyst size between the two groups (P = 0.09). The other variables examined, including operative time and surgical outcomes, were not significantly different between the two groups. This transcervical endoscope-assisted approach to branchial cleft cyst excision is a viable option for uncomplicated cases. It provides better cosmetic results than the standard approach and does not negatively affect outcomes, increase operative time, or result in recurrence. 4. Laryngoscope, 126:1339-1342, 2016. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

Multidimensional esthetic evaluation of patients with a cleft lip and palate wearing a maxillary partial removable dental prosthesis: A 5-year retrospective study.

PubMed

Yu, Dedong; Xing, Guofang; Nie, Ping; Zhang, Xiuyin; Steve Shen, Guofang

2016-04-01

No published quantitative or qualitative studies are available of the 2-dimensional (2D) and 3D esthetic evaluation of patients with a cleft lip and palate (CLP) wearing a maxillary partial removable dental prosthesis (MPRDP). The purpose of this retrospective clinical study was to qualitatively and quantitatively evaluate the facial esthetic improvements of patients with CLP wearing an MPRDP for 5 years by using 2D cephalometric and 3D photogrammetry methods. Six patients, 2 men and 4 women, with CLP deformity were recruited and treated with an MPRDP by the same dentist over 5 years. Results of the clinical examination were recorded before and after wearing the MPRDP. Sella-nasion-A (SNA) point, the U1-SN, 0-meridian to SN, nasolabial angle, and maxillary incisor exposure were measured by 2D cephalometric analysis before and after wearing the MPRDP. 3D photographs were captured by 3dMD software. Geomagic Spark Studio software was also used to measure the patients' improved upper lip projection after the MPRDP was worn. The paired sample t test was used to compare the participants (α=.05). U1-SN (P<.05) and 0-meridian to SN (P<.01) had significant deviation statistically. After patients underwent clinical examination, SNA and nasiolabial angles were found to have improved, although no statistical significance was observed. A maxillary partial removable dental prosthesis (MPRDP) can advance the upper lip forward, restoring the subnasal and upper lip projection. Patients' nasiolabial angles with MPRDPs were decreased, which led to a more harmonious facial contour. Copyright © 2016 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

PubMed

Herman, Sean B; Guo, Tingwei; McGinn, Donna M McDonald; Blonska, Anna; Shanske, Alan L; Bassett, Anne S; Chow, Eva W C; Bowser, Mark; Sheridan, Molly; Beemer, Frits; Devriendt, Koen; Swillen, Ann; Breckpot, Jeroen; Digilio, M Cristina; Marino, Bruno; Dallapiccola, Bruno; Carpenter, Courtney; Zheng, Xin; Johnson, Jacob; Chung, Jonathan; Higgins, Anne Marie; Philip, Nicole; Simon, Tony; Coleman, Karlene; Heine-Suner, Damian; Rosell, Jordi; Kates, Wendy; Devoto, Marcella; Zackai, Elaine; Wang, Tao; Shprintzen, Robert; Emanuel, Beverly S; Morrow, Bernice E

2012-11-01

Velo-cardio-facial syndrome/DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, with an estimated incidence of 1/2,000-1/4,000 live births. Approximately 9-11% of patients with this disorder have an overt cleft palate (CP), but the genetic factors responsible for CP in the 22q11DS subset are unknown. The TBX1 gene, a member of the T-box transcription factor gene family, lies within the 22q11.2 region that is hemizygous in patients with 22q11DS. Inactivation of one allele of Tbx1 in the mouse does not result in CP, but inactivation of both alleles does. Based on these data, we hypothesized that DNA variants in the remaining allele of TBX1 may confer risk to CP in patients with 22q11DS. To test the hypothesis, we evaluated TBX1 exon sequencing (n = 360) and genotyping data (n = 737) with respect to presence (n = 54) or absence (n = 683) of CP in patients with 22q11DS. Two upstream SNPs (rs4819835 and rs5748410) showed individual evidence for association but they were not significant after correction for multiple testing. Associations were not identified between DNA variants and haplotypes in 22q11DS patients with CP. Overall, this study indicates that common DNA variants in TBX1 may be nominally causative for CP in patients with 22q11DS. This raises the possibility that genes elsewhere on the remaining allele of 22q11.2 or in the genome could be relevant. Copyright © 2012 Wiley Periodicals, Inc.

Skeletal and dental stability after maxillary distraction with a rigid external device in adult cleft lip and palate patients.

PubMed

Aksu, Muge; Saglam-Aydinatay, Banu; Akcan, Cenk Ahmet; El, Hakan; Taner, Tulin; Kocadereli, Ilken; Tuncbilek, Gokhan; Mavili, Mehmet Emin

2010-02-01

To evaluate skeletal and dental stability in adult cleft lip and palate patients treated with a rigid external distraction system at the end of distraction and during the postdistraction period. Lateral cephalograms of 7 patients were obtained before distraction, at the end of distraction, and during the postdistraction period. The mean age before distraction was 21.56 +/- 4.73 years. The mean follow-up was 37.3 +/- 12.4 months. The assessment of findings showed that skeletal maxillary sagittal movement was achieved in a superoanterior direction. The maxillary depth angle and effective maxillary length increased significantly (2 degrees and 9 mm, respectively) after distraction, whereas the palatal plane angle increased by 8 degrees , resulting in an anterior movement of the maxilla with a counterclockwise rotation. The lower facial height showed no significant changes after distraction. The sagittal movement of the upper incisors and the angulation of the upper first molars increased significantly (4.5 mm and 5.5 degrees , respectively). During the postdistraction period, the maxilla showed a slight relapse (22%). The effective maxillary length decreased by 2 mm. The palatal plane angle almost returned to its original position, showing 7 degrees of clockwise rotation. The lower facial height remained stable. The upper incisors moved anteriorly and the upper first molars showed a significant mesioangular change during follow-up. After distraction, significant maxillary advancement was achieved with a counterclockwise rotation. The upper incisors moved labially, and the upper first molars angulated mesially. After 3 years, a 22% relapse rate was seen in the maxilla. The counterclockwise rotation of the maxilla was returned to its original position. The upper incisors moved more anteriorly. Copyright 2010 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

[Clinical experience in facial nerve tumors: a review of 27 cases].

PubMed

Zhang, Fan; Wang, Yucheng; Dai, Chunfu; Chi, Fanglu; Zhou, Liang; Chen, Bing; Li, Huawei

2010-01-01

To analyze the clinical manifestations and the diagnosis of the facial nerve tumor according to the clinical information, and evaluate the different surgical approaches depending on tumor location. Twenty-seven cases of facial nerve tumors with general clinical informations available from 1999.9 to 2006.12 in the Shanghai EENT Hospital were reviewed retrospectively. Twenty (74.1%) schwannomas, 4 (14.8%) neurofibromas ,and 3 (11.1%) hemangiomas were identified with histopathology postoperatively. During the course of the disease, 23 patients (85.2%) suffered facial paralysis, both hearing loss and tinnitus affected 11 (40.7%) cases, 5 (18.5%) manifested infra-auricular mass and the others showed some of otalgia or vertigo or ear fullness or facial numbness/twitches. CT or/and MRI results in 24 cases indicated that the tumors originated from the facial nerve. Intra-operative findings showed that 24 (88.9%) cases involved no less than 2 segments of the facial nerve, of these 24 cases 87.5% (21/24) involved the mastoid portion, 70.8% (17/24) involved the tympanic portion, 62.5% (15/24) involved the geniculate ganglion, only 4.2% (1/24) involved the internal acoustic canal (IAC), and 3 cases (11.1%) had only one segments involved. In all of these 27 cases, the tumors were completely excised, of which 13 were resected followed by an immediate facial nerve reconstruction, including 11 sural nerve cable graft, 1 facial nerve end-to-end anastomosis and 1 hypoglossal-facial nerve end-to-end anastomosis. Tumors were removed with preservation of facial nerve continuity in 2 cases. Facial nerve tumor is a rare and benign lesion, and has numerous clinical manifestations. CT and MRI can help surgeons to make a right diagnosis preoperatively. When and how to give the patients an operation depends on the patients individually.

Simultaneous branchial cleft and thyroid disorders may present a management challenge.

PubMed

Harding, Jane L; Veivers, David; Sidhu, Stan B; Sywak, Mark S; Shun, Albert; Delbridge, Leigh W

2005-09-01

Cysts, sinuses or abscesses arising from second, third or fourth branchial cleft remnants may lie either within the body of, or in close proximity to the thyroid gland. Given their infrequent nature they may pose both diagnostic and management challenges for the treating surgeon when they occur in association with thyroid disorders. This is a case series. All patients with concomitant thyroid disorders and a branchial cleft anomaly treated in the University of Sydney Endocrine Surgical Unit in the 10-year period 1994-2003 comprised the study group. Patient demographics, clinical presentation, imaging, surgical management, definitive histology and outcomes were documented. Six patients were identified with an age range of 3-76 years and a male : female ratio of 1:5. Five branchial cleft anomalies were left sided, one was right sided. Two patients had second cleft anomalies, both of which were initially thought to represent metastatic lymph nodes in association with thyroid cancer. A further two patients had third cleft abnormalities presenting as suppurative thyroiditis. The final two patients had fourth cleft abnormalities causing intraoperative management problems. Branchial cleft remnants and anomalies are rare but may occur in association with thyroid disease. They may pose a diagnostic and management dilemma either preoperatively, when mistaken for metastatic thyroid cancer, or intraoperatively when mistaken for a thyroid nodule.

Novel presentation of a fourth branchial cleft anomaly in a male infant.

PubMed

Evans, Seth H; Marinello, Mark; Dodson, Kelley M

2010-01-01

Fourth branchial cleft anomalies are rare congenital disorders of the neck. We describe a case involving a unique presentation of this entity as well as a review of the literature concerning its management. Copyright (c) 2010 Elsevier Inc. All rights reserved.

Preoperative Identification of Facial Nerve in Vestibular Schwannomas Surgery Using Diffusion Tensor Tractography

PubMed Central

Choi, Kyung-Sik; Kim, Min-Su; Kwon, Hyeok-Gyu; Jang, Sung-Ho

2014-01-01

Objective Facial nerve palsy is a common complication of treatment for vestibular schwannoma (VS), so preserving facial nerve function is important. The preoperative visualization of the course of facial nerve in relation to VS could help prevent injury to the nerve during the surgery. In this study, we evaluate the accuracy of diffusion tensor tractography (DTT) for preoperative identification of facial nerve. Methods We prospectively collected data from 11 patients with VS, who underwent preoperative DTT for facial nerve. Imaging results were correlated with intraoperative findings. Postoperative DTT was performed at postoperative 3 month. Facial nerve function was clinically evaluated according to the House-Brackmann (HB) facial nerve grading system. Results Facial nerve courses on preoperative tractography were entirely correlated with intraoperative findings in all patients. Facial nerve was located on the anterior of the tumor surface in 5 cases, on anteroinferior in 3 cases, on anterosuperior in 2 cases, and on posteroinferior in 1 case. In postoperative facial nerve tractography, preservation of facial nerve was confirmed in all patients. No patient had severe facial paralysis at postoperative one year. Conclusion This study shows that DTT for preoperative identification of facial nerve in VS surgery could be a very accurate and useful radiological method and could help to improve facial nerve preservation. PMID:25289119

Airway and feeding problems in infants with Fairbairn-Robin triad deformities.

PubMed

du Plessis, Susanna M; van den Berg, Hester J S; Bütow, Kurt W; Hoogendijk, Christiaan F

2013-01-01

The majority of patients with Pierre Robin sequence in the subdivision Fairbairn- Robin triad (FRT), are born with glossoptosis, retro-/micrognathia and cleft or agenesis of the palate leading to feeding difficulties and airway obstruction. There is limited literature on these problems, and on methods used to address them. Community nurses in the Facial Cleft Deformity Clinic evaluate associated airway obstruction and feeding problems and devise nursing interactions to address these. This retrospective study examined the incidence of airway and feeding difficulties in the neonatal, pre-surgical period, as well as the surgical and nutritional management of these infants. Retrospective records of 215 infants with FRT were examined and data on incidence, airway and feeding difficulties and surgical and nutritional management was collected. Descriptive statistics, including average and percentage values, were compiled. The incidence of FRT amongst the cleft palate patients was 6.0%, with 37.7% of these having feeding difficulties. However, surgical interventions such as glossopexy (5.6%), distraction osteogenesis (0.9%) and tracheotomy (2.3%) for airway management were seldom required. Most of the infants who had upper airway obstruction and feeding problems were handled by means of suction and drinking plates, along with additional specific feeding aids. This reduced airway obstruction in 70.6%, and feeding problems in 62.4% of these infants. Based on this study’s finding the introduction of the suction and drinking plate and the use of specific types of feeding devices and surgical management can improve growth and development in infants with FRT.

TCDD disrupts posterior palatogenesis and causes cleft palate.

PubMed

Yamada, Tomohiro; Hirata, Azumi; Sasabe, Eri; Yoshimura, Tomohide; Ohno, Seiji; Kitamura, Naoya; Yamamoto, Tetsuya

2014-01-01

Dioxins (e.g. 2,3,7,8-tetrachlorodibenzo-p-dioxin; TCDD) cause cleft palate at a high rate. A post-fusional split may contribute to the pathogenesis, and tissue fragility may be a concern. The objective of this study was to investigate the effects of TCDD on the palatal epithelium, bone and muscle, which contribute to tissue integrity. ICR mice (10-12 weeks old) were used. TCDD was administered on E12.5 at 40 mg/kg. Immunohistochemical staining for AhR, ER-α, laminin, collagen IV, osteopontin, Runx2, MyoD, and desmin were performed. Furthermore, western blot analysis for osteopontin, Runx2, MyoD, and desmin were performed to evaluate protein expression in the palatal tissue. Immunohistologically, there was little difference in the collagen IV and laminin localization in the palatal epithelium between control versus TCDD-treated mice. Runx2 and osteopontin immunoreactivity decreased in the TCDD-treated palatal bone, and MyoD and desmin decreased in the TCDD-treated palatal muscle. AhR and ER-α immunoreactivity were localized to the normal palatal bone, but ER-α was diminished in the TCDD-treated palate. On western blot analysis, Runx2, MyoD, and desmin were all downregulated in the TCDD-treated palate. TCDD may suppress palatal osteogenesis and myogenesis via AhR, and cause cleft palates via a post-fusional split mechanism, in addition to a failure of palatal fusion. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Maxillary Distraction Osteogenesis in Unilateral Cleft Lip and Palate Patients with Rigid External Distraction System.

PubMed

Alkhouri, Shadi; Waite, Peter D; Davis, Matthew B; Lamani, Ejvis; Kau, Chung How

2017-01-01

Distraction osteogenesis (DO) is a treatment option for patients with maxillary hypoplasia secondary to cleft lip and palate (CLP). The aim of this study is to present a technique for maxillary DO using Le Fort I osteotomy with rigid external distraction (RED) system. The patient presented in this paper was an Asian female with CLP aged 13 years and 6 months. She presented with severe midfacial deficiency with a Class III dental malocclusion with a negative overjet and concave facial profile. Cone-beam computed tomography images were recorded preoperatively and the operation performed involved a high Le Fort I osteotomy. The appliance fabricated was banded to upper first molars used for anchorage of the RED system. Distraction of the maxilla was initiated after 7-day latency period. Postoperative cephalometric analysis showed maxillary advancement anteriorly and superiorly, the total distraction treatment period was 10 days. The maxillary advancement was 10.5 mm and the SNA angle increased from 67.5° to 77.9°. Furthermore, the ANB angle changed from -9.8° to 1.6° and the occlusion changed from Class III to Class I. The profile of the face changed from concave to convex and a much better esthetic result was achieved. The study suggests RED system to be a reliable alternative procedure for the treatment of midfacial hypoplasia with or without cleft. Furthermore, it minimizes the risk of the surgical procedure and shortens the operating time.

Treatment of maxillary cleft palate: Distraction osteogenesis vs. orthognathic surgery

PubMed Central

Rachmiel, Adi; Even-Almos, Michal; Aizenbud, Dror

2012-01-01

Purpose: The purpose of this paper is to compare the treatment of hypoplastic, retruded maxillary cleft palate using distraction osteogenesis vs. orthognathic surgery in terms of stability and relapse, growth after distraction and soft tissue profile changes. Materials and Methods: The cleft patients showed anteroposterior maxillary hypoplasia with class III malocclusion and negative overjet resulting in a concave profile according to preoperative cephalometric measurements, dental relationship, and soft tissue analysis. The patients were divided in two groups of treatment : S0 eventeen were treated by orthognathic Le Fort I osteotomy fixed with four mini plates and 2 mm screws, and 19 were treated by maxillary distraction osteogenesis with rigid extraoral devices (RED) connected after a Le Fort I osteotomy. The rate of distraction was 1 mm per day to achieve Class I occlusion with slight overcorrection and to create facial profile convexity. Following a 10 week latency period the distraction devices were removed. Results: In the RED group the maxilla was advanced an average of 15.80 mm. The occlusion changed from class III to class I. The profile of the face changed from concave to convex. At a 1-year follow up the results were stable. The mean orthognathic movement was 8.4 mm. Conclusion: In mild maxillary deficiency a one stage orthognathic surgery is preferable. However, in patients requiring moderate to large advancements with significant structural deficiencies of the maxilla or in growing patients the distraction technique is preferred. PMID:23483803

Neonatal Presentation of an Air-Filled Neck Mass that Enlarges with Valsalva: A Case Report

PubMed Central

Patel, Jasminkumar Bharatbhai; Kilbride, Howard; Paulson, Lorien

2015-01-01

Branchial cleft cysts are common causes of congenital neck masses in the pediatric population. However, neonatal presentation of branchial cleft cysts is uncommon, but recognizable secondary to acute respiratory distress from airway compression or complications secondary to infection. We report a 1-day-old infant presenting with an air-filled neck mass that enlarged with Valsalva and was not associated with respiratory distress. The infant was found to have a third branchial cleft cyst with an internal opening into the pyriform sinus. The cyst was conservatively managed with endoscopic surgical decompression and cauterization of the tract and opening. We review the embryology of branchial cleft cysts and current management. PMID:26495186

Anovulvar cleft and vaginal prolapse-hyperplasia in a bitch.

PubMed

Mostachio, G Q; Vicente, W R R; Cardilli, D J; Pires, E A; Toniollo, G H

2007-12-01

This report presents the case of a nine-month-old bitch with incomplete occlusion of the skin and mucosa between the anus and dorsal commissure of the vulva. This anomaly, known as anovulvar cleft, was associated with a vaginal prolapse-hyperplasia. Anovulvar cleft is a rare condition in bitches and is caused by incomplete closure of the dorsal urogenital folds. Anovulvar cleft can lead to clitoritis, abrasion, dryness and devitalisation of the smooth exposed mucosa. Surgery can correct the condition. In the present study, surgical resection of the hyperplasic vaginal tissue associated with perineoplasty using an inverted V-shaped incision showed excellent results. An ovariohysterectomy was also performed to prevent recurrence of the vaginal prolapse-hyperplasia.

Secondary rhinoplasty using flying-bird and vestibular tornado incisions for unilateral cleft lip patients.

PubMed

Matsuya, Tokuzo; Iida, Seiji; Kogo, Mikihiko

2003-08-01

To correct the nasal deformity in cleft lip patients, a new procedure of open rhinoplasty using a "flying-bird" incision in the nostril tip with a vestibule "tornado"-shaped incision in the cleft side is presented. The newly designed vestibular incision produces effective vestibular advancement with the freed lower lateral cartilage. The flying-bird incision makes it possible to produce a suitable nostril tip appearance with symmetrical external nostril vestibules. If the vestibular defect after flap advancement is wide, a full-thickness skin graft is used to give priority for making a good external nostril shape. This procedure is useful for most cleft lip noses, particularly in cases of moderate to severe deformity.

Facial nerve palsy: analysis of cases reported in children in a suburban hospital in Nigeria.

PubMed

Folayan, M O; Arobieke, R I; Eziyi, E; Oyetola, E O; Elusiyan, J

2014-01-01

The study describes the epidemiology, treatment, and treatment outcomes of the 10 cases of facial nerve palsy seen in children managed at the Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife over a 10 year period. It also compares findings with report from developed countries. This was a retrospective cohort review of pediatric cases of facial nerve palsy encountered in all the clinics run by specialists in the above named hospital. A diagnosis of facial palsy was based on International Classification of Diseases, Ninth Revision, Clinical Modification codes. Information retrieved from the case note included sex, age, number of days with lesion prior to presentation in the clinic, diagnosis, treatment, treatment outcome, and referral clinic. Only 10 cases of facial nerve palsy were diagnosed in the institution during the study period. Prevalence of facial nerve palsy in this hospital was 0.01%. The lesion more commonly affected males and the right side of the face. All cases were associated with infections: Mainly mumps (70% of cases). Case management include the use of steroids and eye pads for cases that presented within 7 days; and steroids, eye pad, and physical therapy for cases that presented later. All cases of facial nerve palsy associated with mumps and malaria infection fully recovered. The two cases of facial nerve palsy associated with otitis media only partially recovered. Facial nerve palsy in pediatric patients is more commonly associated with mumps in the study environment. Successes are recorded with steroid therapy.

Comparing Plastic Surgery and Otolaryngology Management in Cleft Care: An Analysis of 4,999 Cases.

PubMed

Jubbal, Kevin T; Zavlin, Dmitry; Olorunnipa, Shola; Echo, Anthony; Buchanan, Edward P; Hollier, Larry H

2017-12-01

Care for patients with cleft lip and palate is best managed by a craniofacial team consisting of a variety of specialists, including surgeons, who are generally plastic surgeons or otolaryngologists trained in the United States. The goal of this study was to compare the surgical approaches and management algorithms of cleft lip, cleft palate, and nasal reconstruction between plastic surgeons and otolaryngologists. We performed a retrospective analysis of the American College of Surgeons' National Surgical Quality Improvement Program Pediatric database between 2012 and 2014 to identify patients undergoing primary repair of cleft lip, cleft palate, and associated rhinoplasty. Two cohorts based on primary specialty, plastic surgeons and otolaryngologists, were compared in relation to patient characteristics, 30-day postoperative outcomes, procedure type, and intraoperative variables. Plastic surgeons performed the majority of surgical repairs, with 85.5% ( n  = 1,472) of cleft lip, 79.3% ( n  = 2,179) of cleft palate, and 87.9% ( n  = 465) of rhinoplasty procedures. There was no difference in the age of primary cleft lip repair or rhinoplasty. However, plastic surgeons performed primary cleft palate repair earlier than otolaryngologists ( p  = 0.03). Procedure type varied between the specialties. In rhinoplasty, otolaryngologists were more likely to use septal or ear cartilage, whereas plastic surgeons preferred rib cartilage. Results were similar, with no statistically significant difference in terms of mortality, reoperation, readmission, or complications. Significant variation exists in the treatment of cleft lip and palate based on specialty service with regard to procedure timing and type. However, short-term rates of mortality, wound occurrence, reoperation, readmission, and surgical or medical complications remain similar.

Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model.

PubMed

Lau, Marco Chi Chung; Kwong, Ernest Man Lok; Lai, Keng Po; Li, Jing-Woei; Ho, Jeff Cheuk Hin; Chan, Ting-Fung; Wong, Chris Kong Chu; Jiang, Yun-Jin; Tse, William Ka Fai

2016-06-01

Treacher Collins Syndrome (TCS) is a rare congenital birth disorder (1 in 50,000 live births) characterized by severe craniofacial defects, including the downward slanting palpebral fissures, hypoplasia of the facial bones, and cleft palate (CP). Over 90% of patients with TCS have a mutation in the TCOF1 gene. However, some patients exhibit mutations in two new causative genes, POLR1C and POLR1D, which encode subunits of RNA polymerases I and III, that affect ribosome biogenesis. In this study, we examine the role of POLR1C in TCS using zebrafish as a model system. Our data confirmed that polr1c is highly expressed in the facial region, and dysfunction of this gene by knockdown or knock-out resulted in mis-expression of neural crest cells during early development that leads to TCS phenotype. Next generation sequencing and bioinformatics analysis of the polr1c mutants further demonstrated the up-regulated p53 pathway and predicted skeletal disorders. Lastly, we partially rescued the TCS facial phenotype in the background of p53 mutants, which supported the hypothesis that POLR1C-dependent type 3 TCS is associated with the p53 pathway. Copyright © 2016 Elsevier B.V. All rights reserved.

The impact of facial abnormalities and their spatial position on perception of cuteness and attractiveness of infant faces

PubMed Central

Lewis, Jennifer; Roberson, Debi

2017-01-01

Research has demonstrated that how “cute” an infant is perceived to be has consequences for caregiving. Infants with facial abnormalities receive lower ratings of cuteness, but relatively little is known about how different abnormalities and their location affect these aesthetic judgements. The objective of the current study was to compare the impact of different abnormalities on the perception of infant faces, while controlling for infant identity. In two experiments, adult participants gave ratings of cuteness and attractiveness in response to face images that had been edited to introduce common facial abnormalities. Stimulus faces displayed either a haemangioma (a small, benign birth mark), strabismus (an abnormal alignment of the eyes) or a cleft lip (an abnormal opening in the upper lip). In Experiment 1, haemangioma had less of a detrimental effect on ratings than the more severe abnormalities. In Experiment 2, we manipulated the position of a haemangioma on the face. We found small but robust effects of this position, with abnormalities in the top and on the left of the face receiving lower cuteness ratings. This is consistent with previous research showing that people attend more to the top of the face (particularly the eyes) and to the left hemifield. PMID:28749958

Fine needle aspiration cytology versus frozen section in branchial cleft cysts.

PubMed

Begbie, F; Visvanathan, V; Clark, L J

2015-02-01

Branchial cleft cysts occur because of a failure of involution of the second branchial cleft. However, as well-differentiated squamous cell carcinoma can mimic branchial cleft cysts, there is a lack of consensus on the appropriate management of cystic neck lumps. To report our experience of fine needle aspiration cytology and frozen section examination in the management of cystic neck lumps. Retrospective case note review of patients managed in the Southern General Hospital, Scotland, UK. The sensitivity of fine needle aspiration cytology and frozen section for detecting branchial cleft cysts was 75 per cent and 100 per cent respectively. Two patients who did not undergo intra-operative frozen section examination were either over- or under-treated, which is discussed. Adult patients subjected to surgical excision of a suspected branchial cyst should undergo intra-operative frozen section analysis regardless of clinical suspicion for malignancy. This part of management is critical to ensure patients are offered appropriate treatment.

A Type I first branchial cleft cyst masquerading as a parotid tumor.

PubMed

Krishnamurthy, Arvind; Ramshanker, Vijayalakshmi

2014-01-01

Branchial cleft anomalies are caused by incomplete regression of the cervical sinus of "His" during the 6(th) and 7(th) weeks of embryologic development. Although congenital in origin, first branchial cleft cysts (FBCCs) can present later in life. FBCCs are rare causes of parotid swellings, accounting for <1% of all the branchial cleft abnormalities. The diagnosis of FBCCs is a clinical challenge; the condition is often overlooked and mismanaged. We report a case of Type 1 FBCC in a 22-year-old female with an asymptomatic 3.5 cm × 2.5 cm sized cystic mass. It was removed completely under the impression of a cystic tumor of the parotid. On histopathology, the cyst had a squamous epithelium-lined wall with lymphoid aggregation which was characteristic of a branchial cleft cyst. A good understanding of the regional anatomy and embryology can lead to an early diagnosis and thereby effective management of FBCC.

Pre-surgical nasoalveolar moulding in patient with unilateral cleft of lip, alveolus and palate: case report.

PubMed

Patel, Dolly; Goyal, Ramesh

2012-01-01

A 2 month-old infant with unilateral cleft lip, alveolus and palate was presented with wide alveolar defect, soft-tissue deformity and a markedly sunken nasal wing at the cleft side. The patient was treated with a moulding plate and additionally with a nasal stent. The device consisted of an acrylic plate with an attached nasal stent that lifted the nasal dome. Under this pre-surgical treatment, the cleft edges moved closer by 9 mm and 6 mm at the alveolar ridge and palate, respectively. The nasal wing was lifted considerably. Pre-surgical nasoalveolar moulding helped to reduce the cleft gap, improve the arch form, approximate lip segments and distinctly improve the morphology of the nose by correcting flattened nasal wings. Copyright © 2011 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.

PubMed

Urban, M; Opitz, C; Bommer, C; Enders, H; Tinschert, S; Witkowski, R

1998-09-23

We report on a 13-year-old patient followed since birth. He is the only offspring of young, non-consanguineous German parents. His mother has an isolated left cleft of lip and a cleft palate. At birth, our patient presented with bilaterally cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and mild symmetrical deficiencies of the long bones of the lower limbs. Haematological evaluation demonstrated a leukaemoid reaction during a urinary tract infection as well as intermittent thrombocytopenia and episodes of marked eosinophilia during the first two years of life. Intellectual development has been normal. Comparison with two similar cases from the literature suggests a non-random phenotypic overlap of Roberts syndrome (MIM 268300) and TAR syndrome (MIM 274000). Such clinical constellations may be key observations to understand the genetic relationship of Roberts syndrome and TAR syndrome in future phenotype-genotype correlations.

Birth defects related to bendectin use in pregnancy. I. Oral clefts and cardiac defects.

PubMed

Mitchell, A A; Rosenberg, L; Shapiro, S; Slone, D

1981-06-12

The risk of birth defects previously associated with Bendectin use in early pregnancy were evaluated in a case-control study of malformed infants whose mothers were interviewed in three regional centers; 98 infants with isolated cleft palate (CP), 221 with cleft lip with or without cleft palate (CL +/- CP), and 122 with selected heart defects (HD) were compared with 970 other malformed infants who served as controls. Relative risk estimates (with their 95% confidence limits) for first-trimester exposure to Bendectin were as follows: CP, 0.9 (0.5 to 1.5); CL +/- CP, 0.6 (0.4 to 0.8); and HD, 1.0 (0.6 to 1.6). Allowance for a large number of potentially confounding factors did not materially influence the risk estimates. These findings suggest that early in utero exposure to Bendectin does not appreciably increase the risk of oral clefts or selected cardiac defects.

Reconstruction of Nasal Cleft Deformities Using Expanded Forehead Flaps: A Case Series.

PubMed

Ramanathan, Manikandhan; Sneha, Pendem; Parameswaran, Ananthnarayanan; Jayakumar, Naveen; Sailer, Hermann F

2014-12-01

Reconstruction of the nasal clefts is a challenging task considering the nasal anatomic complexity and their possible association with craniofacial defects. The reconstruction of these defects needs extensive amounts of soft tissue that warrant the use of forehead flaps. Often presence of cranial defects and low hairline compromise the amount of tissue available for reconstruction warrenting tissue expansion. To evaluate the efficacy of tissue expansion in reconstruction of congenital nasal clefts. 9 patients with congenital nasal clefts involving multiple sub units were taken up for nasal reconstruction with expanded forehead flaps. The average amount of expansion needed was 200 ml. The reconstruction was performed in 3 stages. Expanded forehead flaps proved to be best modality for reconstruction providing the skin cover needed for ala, columella and dorsum with minimal scarring at the donor site. Expansion of the forehead flap is a viable option for multiple sub unit reconstruction in congenital nasal cleft deformities.

Major diagnostic and pathological features of iniencephaly based on twenty-four cases.

PubMed

Joó, József Gábor; Beke, Artúr; Papp, Csaba; Szigeti, Zsanett; Csaba, Akos; Papp, Zoltán

2008-01-01

Iniencephaly is quite a rare malformation the etiology of which is still not fully understood. In the majority of cases it is a grave and lethal condition. It is often complicated by other abnormalities affecting the central nervous system (spina bifida, anencephaly), but malformations involving other organs and systems may also be observed. Based on 24 cases the authors have surveyed the diagnostics of iniencephaly with special regard to the disorders affecting the central and non-central nervous systems. In addition, they have compared the results of prenatal diagnostics and pathological investigations. In the sample, maternal age ranged between 17 and 42 (median 24) years. Positive obstetrical-gynecological and genetic findings in the patients' history have been reported in 4 and 2 cases, respectively. In these cases, the maternal serum alpha-fetoprotein (AFP) values ranged between 0.7 and 3.9 (median 2.0) MoM, while the amniotic fluid AFP values were between 0.9 and 2.7 (median 1.4) MoM. Spina bifida (50%) and anencephaly (42%) were the most commonly occurring complications affecting the central nervous system. Among the non-central nervous system disorders, malformations of the abdominal (omphalocele) and thoracic walls (diaphragmatic hernia) were found most frequently and the tendency to develop associated polyhydramnios was also very high (75%). Pathological investigations revealed developmental disorders such as cleft lip and palate, ventricular septal defect and facial dysmorphism, which are difficult to detect using ultrasonography. Copyright 2008 S. Karger AG, Basel.

Clinical features and management of facial nerve paralysis in children: analysis of 24 cases.

PubMed

Cha, H E; Baek, M K; Yoon, J H; Yoon, B K; Kim, M J; Lee, J H

2010-04-01

To evaluate the causes, treatment modalities and recovery rate of paediatric facial nerve paralysis. We analysed 24 cases of paediatric facial nerve paralysis diagnosed in the otolaryngology department of Gachon University Gil Medical Center between January 2001 and June 2006. The most common cause was idiopathic palsy (16 cases, 66.7 per cent). The most common degree of facial nerve paralysis on first presentation was House-Brackmann grade IV (15 of 24 cases). All cases were treated with steroids. One of the 24 cases was also treated surgically with facial nerve decompression. Twenty-two cases (91.6 per cent) recovered to House-Brackmann grade I or II over the six-month follow-up period. Facial nerve paralysis in children can generally be successfully treated with conservative measures. However, in cases associated with trauma, radiological investigation is required for further evaluation and treatment.

Dental materials for cleft palate repair.

PubMed

Sharif, Faiza; Ur Rehman, Ihtesham; Muhammad, Nawshad; MacNeil, Sheila

2016-04-01

Numerous bone and soft tissue grafting techniques are followed to repair cleft of lip and palate (CLP) defects. In addition to the gold standard surgical interventions involving the use of autogenous grafts, various allogenic and xenogenic graft materials are available for bone regeneration. In an attempt to discover minimally invasive and cost effective treatments for cleft repair, an exceptional growth in synthetic biomedical graft materials have occurred. This study gives an overview of the use of dental materials to repair cleft of lip and palate (CLP). The eligibility criteria for this review were case studies, clinical trials and retrospective studies on the use of various types of dental materials in surgical repair of cleft palate defects. Any data available on the surgical interventions to repair alveolar or palatal cleft, with natural or synthetic graft materials was included in this review. Those datasets with long term clinical follow-up results were referred to as particularly relevant. The results provide encouraging evidence in favor of dental and other related biomedical materials to fill the gaps in clefts of lip and palate. The review presents the various bones and soft tissue replacement strategies currently used, tested or explored for the repair of cleft defects. There was little available data on the use of synthetic materials in cleft repair which was a limitation of this study. In conclusion although clinical trials on the use of synthetic materials are currently underway the uses of autologous implants are the preferred treatment methods to date. Copyright © 2015 Elsevier B.V. All rights reserved.

Outcomes of Cleft Palate Repair in Patients with Pierre Robin Sequence: A Matched Case-Control Study.

PubMed

Hardwicke, Joseph T; Richards, Helen; Cafferky, Louise; Underwood, Imogen; ter Horst, Britt; Slator, Rona

2016-03-01

Pierre Robin sequence results from a cascade of events that occur during embryologic development and frequently presents with cleft palate. Some studies have shown speech outcomes to be worse in patients with Pierre Robin sequence after cleft palate repair. A cohort of Pierre Robin sequence patients who all required an airway intervention and nasogastric feeding in the neonatal period were identified and speech outcomes assessed at 5 years of age. A cleft- and sex-matched non-Pierre Robin sequence, cleft palate-only comparison group was also identified from the same institution and study period. A total of 24 patients with Pierre Robin sequence that required airway and nutritional support in the neonatal period were matched for age, sex, and cleft type to a group of 24 non-Pierre Robin sequence cleft patients. There was no significant difference in the incidence of oronasal fistula between the groups. Secondary surgery for velopharyngeal incompetence was significantly more (p = 0.017) in the Pierre Robin sequence group, who also had significantly greater nasality (p = 0.031) and cleft speech characteristic (p = 0.023) scores. The authors hypothesize that other factors may exist in Pierre Robin sequence that may lead to poor speech outcomes. The authors would suggest counseling parents of children with Pierre Robin sequence that have required a neonatal airway intervention, that speech development may be poorer than in other children with cleft palate, and that these children will have a significantly higher incidence of secondary speech surgery. Risk, II.

Presurgical Nasoalveolar Molding for Correction of Cleft Lip Nasal Deformity: Experience From Northern India

PubMed Central

Mishra, Brijesh; Singh, Arun K.; Zaidi, Javed; Singh, G. K.; Agrawal, Rajiv; Kumar, Vijay

2010-01-01

Context: The cleft lip type nasal deformity presents one of the most complex surgical challenges. The long-term postoperative results are still not satisfactory despite an emphasis on primary nasal correction. This is attributed to tissue memory and healing. Nasoalveolar molding is used effectively to reshape the nasal cartilage and to mold the maxillary arch before cleft lip repair. Aims: This study was undertaken to evaluate the role of presurgical nasoalveolar molding in correction of cleft lip nasal deformity for patients with unilateral and bilateral clefts of the lip. Settings and Design: Twenty-three cases of clefts of lip and palate with nasal deformity were subjected to present study from May 2004 to May 2006. These cases were initially treated on outpatient basis, and they were admitted at the time of operation. All of these patients were children of less than 1 year of age, belonging to north Indian population. Material and Methods: Study consisted of patients of cleft lip and palate who were given presurgical nasoalveolar splints at early age. Lip repair was done after at least 2 months of molding. These patients along with control group (without presurgical nasoalveolar molding) were followed up for 1 year. Measurements were taken at different intervals in study over dental cast and on patients. Data obtained from comparison of 2 groups were analyzed using “MSTAT” analysis software (developed by Dr Russel Freed, Professor & Director, Crop & Soil Sciences Department, Michigan State University, East Lansing, Michigan). Results: In our study, we found that nostril height was more in patients of experimental group (P = .18), while nostril width and alar perimeter were not changed significantly. Children with nasoalveolar molding had significant lengthening of columella (P = .02). Patients of unilateral cleft lip had more reduction in alveolar gap (P = .08) than bilateral group (P = .15). Conclusions: Nasoalveolar molding can be a useful adjunct for treatment of cleft lip nasal deformity. It is a cost-effective technique that can reduce the number of future surgeries such as alveolar bone grafting and secondary rhinoplasties. PMID:20694165

Pacific Partnership 2007: The First Dedicated United States Ship Humanitarian and Civic Assistance Mission

DTIC Science & Technology

2010-10-25

surgical patients. Other eye surgeries corrected ptyergium and strabismus. Pediatric surgical cases were mainly hernia repair and cleft palate / cleft ... lip repair. Basic medical care, MEDCAP, was provided ashore at each location of the mission. PP07 MEDCAP mission data, consolidated from daily

How to Avoid Facial Nerve Injury in Mastoidectomy?

PubMed Central

Ryu, Nam-Gyu

2016-01-01

Unexpected iatrogenic facial nerve paralysis not only affects facial disfiguration, but also imposes a devastating effect on the social, psychological, and economic aspects of an affected person's life at once. The aims of this study were to postulate where surgeons had mistakenly drilled or where obscured by granulations or by fibrous bands and to look for surgical approach with focused on the safety of facial nerve in mastoid surgery. We had found 14 cases of iatrogenic facial nerve injury (IFNI) during mastoid surgery for 5 years in Korea. The medical records of all the patients were obtained and analyzed injured site of facial nerve segment with surgical technique of mastoidectomy. Eleven patients underwent facial nerve exploration and three patients had conservative management. 43% (6 cases) of iatrogenic facial nerve injuries had occurred in tympanic segment, 28.5% (4 cases) of injuries in second genu combined with tympanic segment, and 28.5% (4 cases) of injuries in mastoid segment. Surgeons should try to identify the facial nerve using available landmarks and be kept in mind the anomalies of the facial nerve. With use of intraoperative facial nerve monitoring, the avoidance of in order to avoid IFNI would be possible in more cases. Many authors emphasized the importance of intraoperative facial nerve monitoring, even in primary otologic surgery. However, anatomical understanding of intratemporal landmarks with meticulous dissection could not be emphasized as possible to prevent IFNI. PMID:27626078

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.

PubMed

Mehawej, Cybel; Chouery, Eliane; Maalouf, Diane; Baujat, Geneviève; Le Merrer, Martine; Cormier-Daire, Valérie; Mégarbané, André

2012-02-01

Autosomal recessive Robinow syndrome (OMIM 268310) is a condition caused by mutations in the ROR2 gene, the receptor tyrosine kinase-like orphan receptor 2. The main characteristic features are: a face resembling that of a fetus, cleft lip and palate, mesomelic limb shortening, a micropenis in males, hydronephrosis or urinary tract infections, and skeletal and vertebral anomalies. This study reports two sisters from a consanguineous Lebanese family with an autosomal recessive Robinow syndrome. Both presented with short stature, dysmorphic facial features, and mild bone abnormalities. One of the affected girls had a malformation of her right hand: a mesoaxial polydactyly combined with a syndactyly of the 3rd and 4th fingers, and a short right 3rd metacarpal bone. Molecular analysis of the ROR2 gene revealed the presence of a previously undescribed missense mutation: p.R272C (c.814C>T), in the cysteine-rich domain of the protein. These patients are compared with other cases, and a phenotype-genotype correlation is discussed. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Muscle fiber diameter assessment in cleft lip using image processing.

PubMed

Khan, M F J; Little, J; Abelli, L; Mossey, P A; Autelitano, L; Nag, T C; Rubini, M

2018-04-01

To pilot investigation of muscle fiber diameter (MFD) on medial and lateral sides of the cleft in 18 infants with cleft lip with or without cleft palate (CL/P) using image processing. Formalin-fixed paraffin-embedded (FFPE) tissue samples from the medial and lateral sides of the cleft were analyzed for MFD using an image-processing program (ImageJ). For within-case comparison, a paired Student's t test was performed. For comparisons between classes, an unpaired t test was used. Image processing enabled rapid measurement of MFD with majority of fibers showing diameter between 6 and 11 μm. There was no significant difference in mean MFD between the medial and lateral sides, or between CL and CLP. However, we found a significant difference on the medial side (p = .032) between males and females. The image processing on FFPE tissues resulted in easy quantification of MFD with finding of a smaller MFD on the medial side in males suggesting possible differences in orbicularis oris (OO) muscle between the two sexes in CL that warrants replication using larger number of cases. Moreover, this finding can aid subclinical phenotyping and potentially in the restoration of the anatomy and function of the upper lip. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. All rights reserved.

Association of MEOX2 polymorphism with nonsyndromic cleft palate only in a Vietnamese population.

PubMed

Tran, Duy L; Imura, Hideto; Mori, Akihiro; Suzuki, Satoshi; Niimi, Teruyuki; Ono, Maya; Sakuma, Chisato; Nakahara, Shinichi; Nguyen, Tham T H; Pham, Phuong T; Hoang, Viet; Tran, Van T T; Nguyen, Minh D; Natsume, Nagato

2017-10-14

To evaluate the association between the single nucleotide polymorphism (SNP) rs227493 in the MEOX2 gene and nonsyndromic cleft palate only, this research was conducted as a case-control study by comparing a nonsyndromic cleft palate only group with an independent, healthy, and unaffected control group who were both examined by specialists. Based on clinical examination and medical records, we analyzed a total of 570 DNA samples, including 277 cases and 293 controls, which were extracted from dry blood spot samples collected from both the Odonto and Maxillofacial Hospital in Ho Chi Minh City and Nguyen Dinh Chieu Hospital in Ben Tre province, respectively. The standard procedures of genotyping the specific SNP (rs2237493) for MEOX2 were performed on a StepOne Realtime PCR system with TaqMan SNP Genotyping Assays. Significant statistical differences were observed in allelic frequencies (allele T and allele G) between the non-syndromic cleft palate only and control groups in female subjects, with an allelic odds ratio of 1.455 (95% confidence interval: 1.026-2.064) and P < 0.05. These study findings suggest that nonsyndromic isolated cleft palate might be influenced by variation of MEOX2, especially SNP rs2237493 in Vietnamese females. © 2017 Japanese Teratology Society.

ATTITUDE OF CLEFT CARE SPECIALISTS IN AFRICA TOWARDS PRESURGICAL ORTHOPAEDICS.

PubMed

Adeyemi, A T; Bankole, O O

2012-12-01

To determine the attitude of cleft care specialists working in Africa towards pre-surgical orthopaedics. A cross sectional study. Pan-African conference on cleft lip and palate in Nigeria. Sixty cleft care specialists working in Africa. The general attitude towards pre-surgicalorthopaedics was positive. Majority of the specialists employ pre-surgical orthopaedics before surgical repair. Fifty four (91%) of the specialists use plaster strapping for cases of bilateral cleft, five (8.3%) use nasoalveolar molding and one (2%) use feeding plate. Half of the specialists (50%) felt that pre-surgical orthopaedics is to be managed by orthodontists alone. There were significant difference in attitude towards pre-surgical orthopaedics between providers (p < 0.05). Orthodontists had a strong positive attitude towards pre-surgical orthopaedics than other specialists. Younger specialists had a more positive attitude towards pre-surgical orthopaedics than older specialists. Cleft care specialists in Africa have a positive attitude towards pre-surgical orthopaedics. Majority of them use plaster strapping technique. Younger specialists have a more favorable attitude towards pre-surgical orthopaedics than older specialists.

Characterization of the IMF By-dependent field-aligned currents in the cleft region based on DE 2 observations

NASA Technical Reports Server (NTRS)

Taguchi, S.; Sugiura, M.; Winningham, J. D.; Slavin, J. A.

1993-01-01

The magnetic field and plasma data from 47 passes of DE-2 are used to study the IMF By-dependent distribution of field-aligned currents in the cleft region. It is proposed that the low-latitude cleft current (LCC) region is not an extension of the region 1 or region 2 current system and that a pair of LCCs and high-latitude cleft currents (HCCs) constitutes the cleft field-aligned current regime. The proposed pair of cleft field-aligned currents is explained with a qualitative model in which this pair of currents is generated on open field lines that have just been reconnected on the dayside magnetopause. The electric fields are transmitted along the field lines to the ionosphere, creating a poleward electric field and a pair of field-aligned currents when By is positive; the pair of field-aligned currents consists of a downward current at lower latitudes and an upward current at higher latitudes. In the By negative case, the model explains the reversal of the field-aligned current direction in the LCC and HCC regions.

Cleft lip with or without cleft palate and dermatoglyphic asymmetry: evaluation of a Chinese population.

PubMed

Neiswanger, K; Cooper, M E; Weinberg, S M; Flodman, P; Keglovits, A Bundens; Liu, Y; Hu, D N; Melnick, M; Spence, M A; Marazita, M L

2002-08-01

To determine if Chinese individuals with non syndromic cleft lip with or without cleft palate (CL/P) display more dermatoglyphic asymmetry than unaffected relatives or controls. Case-control study with two control groups (genetically related and unrelated). A total of 500 CL/P probands from Shanghai, China, 421 unaffected relatives, and 66 controls of Chinese heritage. Finger and palm prints were collected, and pattern frequencies, total ridge counts (TRC), and atd angles were calculated. Asymmetry scores between right and left hands were defined for each of the three dermatoglyphic measures. Probands' asymmetry scores were compared statistically with the scores of unaffected relatives and controls. In general, the probands' asymmetry scores for TRC and atd angle did not differ significantly from the scores of either unaffected relatives or controls. However, probands with a positive family history of clefting showed significantly more asymmetry in their pattern types than either probands without a family history, unaffected relatives or controls. These results suggest that a unique genetic mechanism of developmental instability may obtain in CL/P individuals with a positive family history of clefting.

Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wyszynski, D.F.; Lewanda, A.F.; Beaty, T.H.

1996-12-30

Despite considerable research, the cause of non-syndromic cleft lip with or without cleft palate (NSCLP) is still an enigma. Case-control and cohort studies have searched for environmental factors that might influence the development of this common malformation, such as maternal cigarette smoking, periconceptional supplementation of folic acid and multivitamins, agricultural chemical use, and place of residence, among others. However, these studies are subject to numerous biases, and their results have often been contradictory and inconclusive. 41 refs., 1 fig.

Oral health considerations in a patient with oligosymptomatic ectrodactyly-ectodermal dysplasia-cleft syndrome.

PubMed

Sharma, Gaurav; Nagpal, Archna

2017-01-01

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome-a complex, pleiotropic disorder resulting in multiple congenital anomalies-has an unpredictable clinical expression and is typically manifested as an autosomal-dominant trait. This article presents a rare case of oligosymptomatic EEC syndrome in a 19-year-old man who exhibited atypical dental findings but no cleft lip or palate. This article is intended to create awareness about this rare syndrome and highlight the role of oral healthcare specialists in improving the quality of life for patients with EEC.

Evidence-Triggered for Care of Patients with Cleft Lip and Palate in Srinagarind Hospital: Operating Room.

PubMed

Sroyhin, Waranya; Thiamwisai, Lumphung; Surit, Pattama; Chowchuen, Bowornslip

2016-08-01

The operating room Srinagarind hospital handles most cases that require surgical repair including cleft lip and palate patients. The average number of patients undergone surgical correction has risen to 216 in 2016 from 150 in 2014. Patients who underwent surgery, particularly infants had to be separated from family, stay in restricted place, abstaining from food and water, these create stress, fear, anxiety and pain to the child and may have affected to the outcomes of the treatment. For parents and families will also are anxious, and fears about the disease and treatment, losing children, disabled children after the surgery. In addition, their concerns with complications of surgery and chance of recovery. Therefore, there is a need to examine the clinical problems of patients who undergo surgery for cleft lip and palate in order to provide comprehensive care. To identify problems in regards to care for patients with cleft lip and palate, in the operating room, Srinagarind Hospital. The descriptive study was conducted involving nine departments of nursing services, Srinagarind Hospital. After the consideration of human ethic, both quantitative and qualitative data were collected based on The Center for Advance Nursing Practice Model through the following four stimulators: 1) reviewed 30 patients medical records; 2) reviewed four related literatures; 3) surveyed nurses opinion towards health condition’s and the effects of the 10 families with cleft lip and palate; and 4) interviewed ten mothers and families towards the health of cleft lip and palate children. The interviews obtained 15-20 minutes per case with a total of eight months of collecting data (June 2015 - January 2016). The quantitative data were analyzed using percentage and content analyses were used with qualitative data. There were four cases underwent operation for cleft lip and palate (40%) four cases underwent age 3-6 months and 10-18 month four cases underwent age 3-6 months and 10-18 month(40%) which included six male (60%) and ten female caregivers (100%), four of which aged older than 50 years (40%), three cases were each a farmer and housekeeper. For nurses, the majority aged between 40-44 years, nine of which had bachelor degree (90%). The results from nurses’ survey found that the caregiver concerned about patients’ hunger, and surgical complications such as hypothermia, pressure ulcers from operation, postural, bleeding after operation which need additional operation, something stuck in operating wound, and infected wound. The interviewing with the caregiver and mother towards patient health conditions found that the caregivers concerned about anesthetic procedure, wound separation and infection, and the operating cost. Most patients felt fear of fainting and thirsty since food and water discontinuation. Based on the literature review, the problems included the caregivers’ concerns about surgical complications which these were similar to those results from the nurses’ survey. Problems for care of patients with cleft lip and palate in the operating room in Srinagarind Hospital were: 1) concerns about the operation and cost of treatment, 2) surgical complication both immediate and long-term complications, 3) concerns about pain and wound infection. Such evidence would be used in the development plan towards nursing system for cleft lip and palate patients in the operating room.

Internationally adopted children with cleft lip and/or palate: A retrospective cohort study.

PubMed

Werker, C L; de Wilde, H; Mink van der Molen, A B; Breugem, C C

2017-12-01

The treatment approach for internationally adopted children with cleft lip and/or palate differs from locally born children with cleft lip and/or palate. They are older at initial presentation, may have had treatment abroad of different quality, and are establishing new and still fragile relationships with their adoptive parents. The aim of this study was to describe the characteristics and initial care and treatment of this group. A retrospective cohort study was performed including all internationally adopted children with cleft lip and/or palate presenting to the cleft team outpatient clinic in the Wilhelmina Children's Hospital between January 1994 and December 2014. Medical records of all patients were reviewed; information concerning demographic characteristics, characteristics at initial presentation, and treatment were obtained. A total number of 132 adopted patients were included: 15% had cleft lip, 7% had cleft palate, and 78% had cleft lip and palate. The average age at the time of adoption was 26.5 months. In most cases, China was the country of origin. Seventy-eight percent had surgery in their country of origin, primarily lip repair. Fistulae in need of revision surgery were found in 8% of the patients. Pharyngoplasty was needed in 48% of the patients. No significant differences were found for mean age at adoption, gender, cleft type, and one- or two-stage palatal closure. Internationally adopted children with cleft lip and/or palate are a very diverse group of patients with challenging treatment. These children undergo surgery late and frequently need additional surgery. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Cervical vertebral maturation of female children with orofacial clefts.

PubMed

Sun, Ling; Li, Wei Ran

2013-09-01

Objective : To evaluate the skeletal maturation of girls with orofacial clefts using the cervical vertebral maturation method. Design : Case-control study. Setting : The School of Stomatology, Peking University. Patients : A total of 173 girls with cleft lip and/or palate from 8 to 16 years old were compared with 1038 age-matched girls without clefts. Results : In the 8- to 9-year-olds, most of the girls from both groups were in cervical stage 1. In the 14- to 15-year-olds and 15- to 16-year-olds, almost all the girls from both groups were in cervical stages 5 and 6, and most of the 15- to 16-year-old girls were in cervical stage 6. Differences existed in each year for 9- to 14-year-olds, which was confirmed by statistical analysis. After ordinal logistical regression of data from girls 9 to 14 years of age, girls of the same age in the non-cleft lip and/or palate group were associated with 1.559 times the odds of having achieved higher cervical stages than those in the cleft lip and/or palate group. Most girls without cleft lip and/or palate were in cervical stages 3 and 4 in the 11- to 12-year-olds; whereas, it was not so obvious in the girls with cleft lip and/or palate. By the age of 12, girls with cleft lip and/or palate had 2.667 times the risk of delayed cervical stage 3, and the 95% confidence interval for the odds ratio was 1.013 to 7.019. Conclusions : Girls with cleft lip and/or palate are at a higher risk of delayed pubertal growth.

Frontonasal dysplasia: oral features, restorative and orthodontic dental treatment in a child.

PubMed

Valério, R A; Scatena, C; Santos, F R R; Romano, F L; Queiroz, A M; Paula-Silva, F W G

2017-04-01

Frontonasal dysplasia is a complex rare malformation, characterised by abnormalities involving the central portion of the face, especially the eyes, nose and forehead. It can manifest independently or associated with other abnormalities as part of some syndromes. The purpose of this case report was to describe a 5-year-old patient, diagnosed with frontonasal dysplasia. Among the abnormalities characterised with this disorder were ocular hypertelorism, broad nose tip with median notch, median facial cleft, bifid anterior skull, low set hairline, Poland's syndactyly and ankyloglossia. Consisted of behavioural management, oral hygiene instruction, prophylaxis, topical fluoride application, extraction of primary teeth, composite resin restorations and sealants in pits and fissures. Preformed metal crowns were also applied to the right and left primary maxillary second molars. Currently, the patient is 11 years-old in the permanent dentition and therefore was referred for corrective orthodontic and periodontal treatments due to the persistence of gingival retraction of the permanent mandibular right central incisor. The treatment in this case was directed to the promotion of oral health and orthodontic corrections, which are of fundamental importance due to medical, physical and social limitations of children affected by this syndrome, hindering healing and rehabilitative treatment. Paediatric dentists should be included in multidisciplinary teams providing care to patients with special needs, improving their quality of life.

Paternal Risk Factors for Oral Clefts in Northern Africans, Southeast Asians, and Central Americans

PubMed Central

Ly, Stephanie; Burg, Madeleine L.; Ihenacho, Ugonna; Brindopke, Frederick; Auslander, Allyn; Magee, Kathleen S.; Sanchez-Lara, Pedro A.; Nguyen, Thi-Hai-Duc; Nguyen, Viet; Tangco, Maria Irene; Hernandez, Angela Rose; Giron, Melissa; Mahmoudi, Fouzia J.; DeClerck, Yves A.; Magee, William P.; Figueiredo, Jane C.

2017-01-01

While several studies have investigated maternal exposures as risk factors for oral clefts, few have examined paternal factors. We conducted an international multi-centered case–control study to better understand paternal risk exposures for oral clefts (cases = 392 and controls = 234). Participants were recruited from local hospitals and oral cleft repair surgical missions in Vietnam, the Philippines, Honduras, and Morocco. Questionnaires were administered to fathers and mothers separately to elicit risk factor and family history data. Associations between paternal exposures and risk of clefts were assessed using logistic regression adjusting for potential confounders. A father’s personal/family history of clefts was associated with significantly increased risk (adjusted OR: 4.77; 95% CI: 2.41–9.45). No other significant associations were identified for other suspected risk factors, including education (none/primary school v. university adjusted OR: 1.29; 95% CI: 0.74–2.24), advanced paternal age (5-year adjusted OR: 0.98; 95% CI: 0.84–1.16), or pre-pregnancy tobacco use (adjusted OR: 0.96; 95% CI: 0.67–1.37). Although sample size was limited, significantly decreased risks were observed for fathers with selected occupations. Further research is needed to investigate paternal environmental exposures as cleft risk factors. PMID:28629204

[The apron mucosal flap of the lower lip for the repair of the secondary deformities of the cleft lip].

PubMed

Wu, K; Xu, J; Lin, Y

1996-05-01

Twelve cases of secondary deformities of the cleft lip were repaired with the apron mucosal flap of the lower lip. The operation method is described. The advantages and disadvantages are discussed. Good results were obtained in patients with mild or medium secondary deformities.