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Sample records for cleft palate surgery

  1. Cleft Lip and Palate

    MedlinePlus

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Cleft Lip and Palate KidsHealth > For Teens > Cleft Lip and Palate Print ... slight scar on her upper lip. What Are Cleft Lip and Palate? Cleft lip and palate are birth defects that ...

  2. Orthognathic surgery in the cleft lip and palate patient.

    PubMed

    Herber, S C; Lehman, J A

    1993-10-01

    Orthognathic surgery for the cleft lip and palate patient should be designed to achieve good facial aesthetics and a stable, functional occlusion. Maxillary and mandibular osteotomies, which benefit cleft lip and palate patients with associated dentofacial deformities, should be modified to meet the needs of the individual patient. Soft-tissue correction of the upper lip and nose adds to the overall aesthetic result, but should be performed as a separate procedure.

  3. Palatal changes after lip surgery in different types of cleft lip and palate.

    PubMed

    Kramer, G J; Hoeksma, J B; Prahl-Andersen, B

    1994-09-01

    This study concerns palatal development during 6 months following primary lip closure. The sample consisted of 75 children with different forms of cleft lip and palate and 51 noncleft children. The palate was measured at 3 months of age, just before lip surgery, after surgery at 6 months, and again at 9 months of age. The results showed that lip closure has a strong effect in the anterior alveolar region. This effect was restricted to 3 months after surgery. The changes in complete clefts were more explicit than in incomplete cleft forms. Furthermore, the data showed that arch depth reduction due to lip surgery was compensated for by continued anteroposterior palatal growth. Early orthopedics appeared to prevent major palatal collapse immediately after lip surgery. Finally simultaneous closure of the alveolar cleft at the nasal side resulted in continued reduction of anterior cleft width.

  4. Cleft Lip and Cleft Palate

    MedlinePlus

    ... Age Support Resources Books for Kids and Adults Cleft Lip/Palate & Craniofacial Specialists in Your Area FAQs for Parents ... cleft palate, or both cleft lip and cleft palate. Cleft lip and cleft palate are congenital defects, or birth ...

  5. 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;…

  6. Frequency of homologous blood transfusion in patients undergoing cleft lip and palate surgery

    PubMed Central

    Adeyemo, Wasiu L.; Ogunlewe, Mobolanle O.; Desalu, Ibironke; Ladeinde, Akinola L.; Adeyemo, Titilope A.; Mofikoya, Bolaji O.; Hassan, Olakunle O.; Akanmu, Alani S.

    2010-01-01

    Aim: The study aims to determine the frequency of homologous blood transfusion in patientsundergoing cleft lip and palate surgery at the Lagos University Teaching Hospital, Nigeria. Setting and Design: A prospective study of transfusion rate in cleft surgery conducted at the Lagos University Teaching Hospital, Nigeria. Material and Methods: One hundred consecutive patients who required cleft lip and palate surgery were recruited into the study. Data collected included age, sex and weight of patients, type of cleft defects, type of surgery done, preoperative haematocrit, duration of surgery, amount of blood loss during surgery, the number of units of blood cross-matched and those used. Each patient was made to donate a unit of homologous blood prior to surgery. Results: There were 52 females and 48 males with a mean age of 64.4 ± 101.1 months (range, 3-420 months). The most common cleft defect was isolated cleft palate (45%) followed by unilateral cleft lip (28%). Cleft palate repair was the most common procedure (45%) followed by unilateral cleft lip repair (41%). The mean estimated blood loss was 95.8 ± 144.9 ml (range, 2-800ml). Ten (10%) patients (CL=2; CP=5, BCL=1; CLP=2) were transfused but only two of these were deemed appropriate based on percentage blood volume loss. The mean blood transfused was 131.5 ± 135.4ml (range, 35-500ml). Six (60%) of those transfused had a preoperative PCV of < 30%. Only 4.9% of patients who had unilateral cleft lip surgery were transfused as compared with 50% for CLP surgery, 11% for CP surgery, and 10% for bilateral cleft lip surgery. Conclusions: The frequency of blood transfusion in cleft lip and palate surgery was 10% with a cross-match: transfusion ratio of 10 and transfusion index of 0.1. A "type and screen" policy is advocated for cleft lip and palate surgery. PMID:20924451

  7. [Cleft palate surgery with ENT-pathology correction].

    PubMed

    Radkevich, A A; Vakhrushev, S G; Gantimurov, A A; Ivanov, V A

    2014-01-01

    The article presents the cases of cleft palate surgical treatment with simultaneous intervention in ENT organs (bypass of the tympanic cavity, segmental or total adenotomy, etc.) with the restoration of vomer anatomy and hard palate reconstruction by means of super-elastic low-profile nickel titanium implant. The article describes the advantages of the method in comparison with the conventional ones.

  8. 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

  9. Cleft palate - resources

    MedlinePlus

    Resources - cleft palate ... The following organizations are good resources for information on cleft palate : Cleft Palate Foundation -- www.cleftline.org March of Dimes -- www.marchofdimes.com/professionals/14332_1210.asp ...

  10. Cleft lip and palate surgery: 30 years follow-up

    PubMed Central

    Guerrero, Cesar A.

    2012-01-01

    Ten cleft lip and palate patients with complete unilateral (five patients) and bilateral (five patients) clefts were treated by a multidisciplinary team integrated by psychologists, surgeons, orthodontists, prosthodontists, pediatric dentists, and speech pathologists, to obtain ideal soft tissue and hard tissue continuity, facial symmetry, functional and esthetic dentitions, excellent nasal architecture, subtle, and hidden lip scars. No hypernasality and adequate social adaptation were found in the 30 years follow-up (20-30 years follow-up with an average of 25.5 years). The patients were treated in a pro-active fashion avoiding complications and related problems, executing the ideal surgical, dental, and speech therapy plan, based on a close follow-up over the entire period. Those patients treated at the right time required less surgeries and less salvaging maneuvers and presented complete dentitions with less dental prosthesis or dental implants and stable occlusions, than those who missed the ideal dental and surgical treatment opportunities. The focus of this article is the need of a close long-term follow-up to ensure an ideal patient's quality of life. PMID:23483117

  11. Cleft Lip and Cleft Palate

    MedlinePlus

    ... can breast-feed, a cleft palate may make sucking difficult. Ear infections and hearing loss. Babies with cleft palate are especially at risk of developing middle ear fluid and hearing loss. Dental problems. If the cleft extends through the upper gum, ...

  12. Cleft Lip and Cleft Palate

    MedlinePlus

    ... and advocacy priorities National Network of Perinatal Quality Collaboratives Launch Prematurity research centers What is team science? ... how the body develops or how the body works. Cleft lip and cleft palate are common birth ...

  13. Cleft lip and palate

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/001051.htm Cleft lip and palate To use the sharing features on this page, please enable JavaScript. Cleft lip and palate are birth defects that affect the upper lip ...

  14. Maxilla dimension in patients with unilateral and bilateral cleft lip and palate. Changes from birth until palate surgery at age three.

    PubMed

    Opitz, C; Kratzsch, H

    1997-01-01

    This study traces the changes in maxillary dimension in 44 unilateral cleft lip and palate (UCLP) patients and 28 bilateral cleft lip and palate (BCLP) patients from birth up to the time of palate surgery at age 3. Measurements on dental casts were carried out at 4 defined registration stages. The results revealed a continuous reduction in cleft dimension parallel to an increase in the transversal and sagittal maxillary dimensions. The inclination of the palatal slope displayed such a high degree of variability that no statement regarding the development in this variable could be made. Differences between the 2 types of cleft patients were found only in the maxillary sagittal dimension. Wearing an orthopedic plate after surgery appears to prevent transversal collapse in the anterior region and to counteract external transversal and sagittal forces. Only temporary inhibition of growth in the sagittal dimension of the maxilla was observed after lip surgery.

  15. Cleft lip and palate repair - discharge

    MedlinePlus

    ... lip and palate Cleft lip and palate repair Review Date 5/9/2016 Updated by: David A. ... and reconstructive plastic surgery, Palm Beach Gardens, FL. Review provided by VeriMed Healthcare Network. Also reviewed by ...

  16. Cleft Lip and Palate

    MedlinePlus

    ... that include feeding problems, middle ear fluid and hearing loss, dental problems, and speech problems. Feeding problems Have ... hearing problems Kids with cleft palate can have hearing loss . This may be caused by fluid building up ...

  17. Cleft palate repair and variations

    PubMed Central

    Agrawal, Karoon

    2009-01-01

    Cleft palate affects almost every function of the face except vision. Today a child born with cleft palate with or without cleft lip should not be considered as unfortunate, because surgical repair of cleft palate has reached a highly satisfactory level. However for an average cleft surgeon palatoplasty remains an enigma. The surgery differs from centre to centre and surgeon to surgeon. However there is general agreement that palatoplasty (soft palate at least) should be performed between 6-12 months of age. Basically there are three groups of palatoplasty techniques. One is for hard palate repair, second for soft palate repair and the third based on the surgical schedule. Hard palate repair techniques are Veau-Wardill-Kilner V-Y, von Langenbeck, two-flap, Aleveolar extension palatoplasty, vomer flap, raw area free palatoplasty etc. The soft palate techniques are intravelar veloplasty, double opposing Z-plasty, radical muscle dissection, primary pharyngeal flap etc. And the protocol based techniques are Schweckendiek's, Malek's, whole in one, modified schedule with palatoplasty before lip repair etc. One should also know the effect of each technique on maxillofacial growth and speech. The ideal technique of palatoplasty is the one which gives perfect speech without affecting the maxillofacial growth and hearing. The techniques are still evolving because we are yet to design an ideal one. It is always good to know all the techniques and variations so that one can choose whichever gives the best result in one's hands. A large number of techniques are available in literature, and also every surgeon incorporates his own modification to make it a variation. However there are some basic techniques, which are described in details which are used in various centres. Some of the important variations are also described. PMID:19884664

  18. [Cleft lip and palate in Campeche Mayas].

    PubMed

    Weiss, K M; Georges, E; Levy, B; Aguirre, A; Portilla, R J; Gaitán, C L; Leyva, E; Rodríguez, T

    1988-07-01

    It has been suggested that among American Indians, as in some genetically-related Asiatic ethnic groups, incidence of cleft lip and/or cleft palate is higher than among people of Caucasian extraction. Such hypothesis, plus growing demand for services observed at a center for the surgery of cleft lip and cleft palate in Campeche state, led the authors to undertake research among the Maya residents of that region. However, neither careful review of case histories nor field research performed in several Indian communities could confirm the hypothesis of a higher incidence among this ethnic community.

  19. Oro-nasal fistula development and velopharyngeal insufficiency following primary cleft palate surgery--an audit of 148 children born between 1985 and 1997.

    PubMed

    Inman, D S; Thomas, P; Hodgkinson, P D; Reid, C A

    2005-12-01

    We present an audit of primary cleft palate surgery in our unit including rates of two important post-operative complications. Multidisciplinary audit clinics ran from March 1998 to April 2002 to follow up all local patients with a cleft lip or palate who had undergone primary palatal surgery in our unit. One hundred and forty eight patients were studied. Patient ages at follow-up ranged from 3 years and 10 months to 17 years and 4 months. Two surgeons performed the primary surgery. One hundred and twenty eight Wardill-Kilner and 20 Von Langenbeck repairs were performed. We found a 4.7% rate of oro-nasal fistula development requiring surgical closure, and a 26.4% rate of velopharyngeal insufficiency (VPI) requiring subsequent pharyngoplasty. We noted that the type of cleft involved affected the rate of VPI, 16% of patients with unilateral cleft lip and palate versus 29.2% of patients with a solitary cleft palate requiring secondary surgery. Outcome of surgery was determined by a 'Cleft Audit Protocol for Speech' (CAPS) speech therapy assessment at follow-up clinics. Only 14.9% of all patients assessed demonstrated any degree of hypernasality. Our results compare favourably with other recent studies including the Clinical Standards Advisory Group (CSAG) report into treatment of children with cleft lip and palate.

  20. Effects of lip revision surgery on long-term orosensory function in patients with cleft lip/palate.

    PubMed

    Essick, Greg; Phillips, Ceib; Chung, Yunro; Trotman, Carroll-Ann

    2013-09-01

    OBJECTIVE : To determine whether secondary lip revision surgery impacts sensitivity of the upper lip. DESIGN : A three-group, parallel, prospective, nonrandomized clinical trial. SETTING : University of North Carolina School of Dentistry. PATIENTS, PARTICIPANTS : Three groups: (1) patients with repaired cleft lip/palate who were scheduled for lip revision (revision; N = 20); (2) patients with repaired cleft lip/palate who did not receive a lip revision (non-revision; N = 13); and (3) non-cleft control subjects (non-cleft; N = 22). Interventions : Lip revision surgery. MAIN OUTCOME MEASURES : Measures of (1) two-point perception threshold (two-point), (2) warmth detection threshold (warm), and (3) cool detection threshold (cool) were obtained from two sites on the upper lip vermilion. The revision participants were tested approximately 1 week before surgery and then approximately 3 and 12 months after surgery. The non-revision and non-cleft participants were tested at similar times. RESULTS : There were no significant differences among the three groups at baseline for two-point, warm, or cool. The main effects of group, age, sex, and time were not statistically significant for the two-point or warm (p > .05). The mean differences between the 3- and 12-month follow-up visits and baseline for two-point and warm were small for all three groups. For cool, group was statistically significant (p = .04), the difference in the non-revision group between follow-up and baseline was 31% to 34% higher than in the non-cleft group (p = .01). CONCLUSIONS : Although at postsurgery revision participants exhibited threshold values comparable to presurgical values, the sensory differences observed among subgroups of participants with cleft lip are complex.

  1. Lip Repair Surgery for Bilateral Cleft Lip and Palate in a Patient Diagnosed with Trisomy 13 and Holoprosencephaly.

    PubMed

    Akamatsu, Tadashi; Hanai, Ushio; Nakajima, Serina; Kobayashi, Megumi; Miyasaka, Muneo; Matsuda, Shinichi; Ikegami, Mariko

    2015-06-20

    We report a case of lip repair surgery performed for bilateral cleft lip and palate in a patient diagnosed with trisomy 13 and holoprosencephaly. At the age of 2 years and 7 months, the surgery was performed using a modified De Hann design under general anesthesia. The operation was completed in 1 h and 21 min without large fluctuations in the child's general condition. The precise measurement of the intraoperative design was omitted, and the operation was completed using minimal skin sutures. It is possible to perform less-invasive and short surgical procedures after careful consideration during the preoperative planning. Considering the recent improvements in the life expectancy of patients with trisomy 13, we conclude that surgical treatments for non-life threatening malformations such as cleft lip and palate should be performed for such patients.

  2. Changing strategy and implementation of a new treatment protocol for cleft palate surgery in "Maria Sklodowska Curie" (MSC) Children's Hospital, Bucharest, Romania.

    PubMed

    Spataru, Radu; Mark, Hans

    2014-12-01

    In "Maria Sklodowska Curie" (MSC) Children's Hospital, Bucharest, Romania, cleft palate repair has been performed according to von Langenbeck since 1984. The speech was good in most patients but wide clefts had a high percentage of fistulas, abnormal speech due to short length and limited mobility of the soft palate. In 2009, the protocol was changed to Gothenburg Delayed Hard Palate Closure, (DHPC) technique. The present evaluation was performed to study the implementation of this technique. One hundred and sixty-eight patients with cleft palate were admitted, 89 isolated cleft palate (ICP), 53 unilateral (UCLP) and 26 bilateral (BCLP). In these, 228 surgical interventions were performed. Soft Palate Repair (SPR) and Hard Palate Repair (HPR) were performed with the DHPC procedure. The transfer to this technique was successfully performed in three steps: one team visit to Gothenburg by a surgeon from MSC and two visits by surgeons from Gothenburg to the MSC. Patients with SPR and HPR were operated on without major complications and there were no differences in results between Gothenburg surgeons and MSC surgeons. The interventions with SPR and HPR technique were proven to be easy to teach and learn and successfully performed without major complications. For cleft patients at MSC hospital it has meant earlier surgery, less re-operations and complications. This report shows a successful change of strategy for palatal repair with improved outcome regarding surgery. In future, speech and growth will be followed on a regular basis and will be compared with results from the Gothenburg Cleft Team.

  3. Molecular basis of cleft palates in mice

    PubMed Central

    Funato, Noriko; Nakamura, Masataka; Yanagisawa, Hiromi

    2015-01-01

    Cleft palate, including complete or incomplete cleft palates, soft palate clefts, and submucosal cleft palates, is the most frequent congenital craniofacial anomaly in humans. Multifactorial conditions, including genetic and environmental factors, induce the formation of cleft palates. The process of palatogenesis is temporospatially regulated by transcription factors, growth factors, extracellular matrix proteins, and membranous molecules; a single ablation of these molecules can result in a cleft palate in vivo. Studies on knockout mice were reviewed in order to identify genetic errors that lead to cleft palates. In this review, we systematically describe these mutant mice and discuss the molecular mechanisms of palatogenesis. PMID:26322171

  4. Cleft palate in Pfeiffer syndrome.

    PubMed

    Stoler, Joan M; Rosen, Heather; Desai, Urmen; Mulliken, John B; Meara, John G; Rogers, Gary F

    2009-09-01

    The frequency of associated cleft palate is known to be high in some fibroblast growth factor receptor 2 (FGFR2)-mediated craniosynostosis syndromes, such as Apert syndrome. However, there is little information on the frequency of palatal clefts in the FGFR2-mediated disorder, that is, Pfeiffer syndrome. The purpose of this study was to determine the frequency of palatal clefts in patients with Pfeiffer syndrome. The records of patients with Pfeiffer syndrome managed in our craniofacial unit were reviewed. Only patients with a confirmed diagnosis of Pfeiffer syndrome were included. Diagnostic criteria were as follows: characteristic mutations in FGFR1 or FGFR2 or, in the absence of genetic testing, clinical findings consistent with Pfeiffer syndrome as determined by a clinical geneticist or our most experienced surgeon (J.B.M.). Only 2 clefts were noted in 25 patients (8%), including 1 with a submucous cleft and 1 with an overt palatal cleft. Many patients (87%) were described as having a high-arched and narrow palate, and 1 had a low, broad palate. Nine patients were noted to have choanal atresia or stenosis. Clefting of the palate does occur in Pfeiffer syndrome but at a low frequency.

  5. Surgical correction of cleft lip and palate.

    PubMed

    Jayaram, Rahul; Huppa, Christoph

    2012-01-01

    Surgical cleft repair aims to restore function of the oro-nasal sphincter and oro-nasal soft tissues and re-establish the complex relationship between perioral and perinasal muscle rings without compromising subsequent mid-facial growth and development. Here we review the surgical anatomy of this region, optimal timing for surgical repair and current thinking on the use of surgical adjuncts. In addition, an overview of current surgical techniques available for the repair of cleft lip, cleft palate and velopharyngeal insufficiency is presented. Finally, we briefly discuss nasal revision surgery and the use of osteotomy, including distraction osteogenesis in the cleft patient.

  6. An Opportunity for Diagonal Development in Global Surgery: Cleft Lip and Palate Care in Resource-Limited Settings

    PubMed Central

    Patel, Pratik B.; Hoyler, Marguerite; Maine, Rebecca; Hughes, Christopher D.; Hagander, Lars; Meara, John G.

    2012-01-01

    Global cleft surgery missions have provided much-needed care to millions of poor patients worldwide. Still, surgical capacity in low- and middle-income countries is generally inadequate. Through surgical missions, global cleft care has largely ascribed to a vertical model of healthcare delivery, which is disease specific, and tends to deliver services parallel to, but not necessarily within, the local healthcare system. The vertical model has been used to address infectious diseases as well as humanitarian emergencies. By contrast, a horizontal model for healthcare delivery tends to focus on long-term investments in public health infrastructure and human capital and has less often been implemented by humanitarian groups for a variety of reasons. As surgical care is an integral component of basic healthcare, the plastic surgery community must challenge itself to address the burden of specific disease entities, such as cleft lip and palate, in a way that sustainably expands and enriches global surgical care as a whole. In this paper, we describe a diagonal care delivery model, whereby cleft missions can enrich surgical capacity through integration into sustainable, local care delivery systems. Furthermore, we examine the applications of diagonal development to cleft care specifically and global surgical care more broadly. PMID:23316355

  7. Profile evaluation of patients with cleft lip and palate undergoing surgery at a reference center in rio de janeiro, Brazil.

    PubMed

    Franco, Diogo; Iani, Marcella; Passalini, Ronaldo; Demolinari, Ivan; Arnaut, Marcio; Franco, Talita

    2012-01-01

    In Brazil, the classic timeline for operating on cleft lip and palate is three months old for cheiloplasty and is 12 to 18 months old for palatoplasty. As from Brazilian treatment centers are usually located in major cities, patients living in more remote areas are often unable to receive treatment at the ideal ages. Data were analyzed retrospectively on 45 patients with cleft lip and/or palate, consecutively operated at the Reference Center, Rio de Janeiro Federal University, Brazil. Particularly noteworthy among these data are gender, clinical presentation, operations performed, age of surgery, and the distance between their homes and the hospital. The average age of patients undergoing primary cheiloplasty was 9.4 months, with primary palatoplasties performed at an average age of 7.2 years. As 67% of these patients lived in other towns, they encountered difficulties in seeking and continuing specialized care. Despite attempts to decentralize cleft palate care in Brazil, suitable conditions are not yet noted for following the treatment protocols in a full and adequate manner.

  8. Hearing outcomes in patients with cleft lip/palate.

    PubMed

    Skuladottir, Hildur; Sivertsen, Ase; Assmus, Jorg; Remme, Asa Rommetveit; Dahlen, Marianne; Vindenes, Hallvard

    2015-03-01

    Objective : Children with cleft lip and palate or cleft palate only have a high incidence of conductive hearing loss from otitis media with effusion. Studies demonstrating longitudinal results are lacking. This study was undertaken to investigate long-term longitudinal hearing outcomes of children with cleft lip and/or cleft palate and cleft palate only. Design : Retrospective chart review. Setting : Clinical charts of patients born with cleft lip and palate or cleft palate only in 1985 to 1994 who were referred to the cleft team in Bergen, Norway. Study findings include 15 years of follow-up. Participants : The study population consisted of 317 children of whom 159 had nonsyndromic cleft lip and palate and 158 had nonsyndromic cleft palate. Main Outcome Measures : Pure tone average calculated from pure tone audiometry at ages 4, 6, and 15 years. Results : The median pure tone average significantly improved with increasing age. For the cleft lip and palate group, the median pure tone average at ages 4, 6, and 15 years was 16 dB hearing level (HL), 13 dB HL, and 9 dB HL, respectively (P ≤ .001). In the cleft palate group the median pure tone average at ages 4, 6, and 15 years was 15 dB HL, 12 dB HL, and 9 dB HL, respectively (P ≤ .001). There was no significant difference in the hearing levels between the two groups. Patients who had surgical closure of the palate at age 18 months had a significantly better pure tone average outcome at age 15 compared with patients who had surgery at 12 months. Conclusions : Hearing improves significantly from childhood to adolescence in patients with cleft lip and palate and cleft palate only.

  9. Isolated congenital palatal fistula without submucous cleft palate.

    PubMed

    Karacan, Mehmet; Olgun, Haşim; Tan, Onder; Caner, Ibrahim

    2009-09-01

    Congenital fistula of the palate is a rare deformity. It has been generally associated with cleft palate. Treatment of cleft palate is surgical intervention. We present a child with congenital fistula of palate that was not associated with submucous cleft and closed spontaneously at 18 months.

  10. CLEFT PALATE. FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

    ERIC Educational Resources Information Center

    RUTHERFORD, DAVID; WESTLAKE, HAROLD

    DESIGNED TO PROVIDE AN ESSENTIAL CORE OF INFORMATION, THIS BOOK TREATS NORMAL AND ABNORMAL DEVELOPMENT, STRUCTURE, AND FUNCTION OF THE LIPS AND PALATE AND THEIR RELATIONSHIPS TO CLEFT LIP AND CLEFT PALATE SPEECH. PROBLEMS OF PERSONAL AND SOCIAL ADJUSTMENT, HEARING, AND SPEECH IN CLEFT LIP OR CLEFT PALATE INDIVIDUALS ARE DISCUSSED. NASAL RESONANCE…

  11. Maxillary distraction versus orthognathic surgery in cleft lip and palate patients: effects on speech and velopharyngeal function.

    PubMed

    Chua, H D P; Whitehill, T L; Samman, N; Cheung, L K

    2010-07-01

    This clinical randomized controlled trial was performed to compare the effects of distraction osteogenesis (DO) and conventional orthognathic surgery (CO) on velopharyngeal function and speech outcomes in cleft lip and palate (CLP) patients. Twenty-one CLP patients who required maxillary advancement ranging from 4 to 10 mm were recruited and randomly assigned to either CO or DO. Evaluation of resonance and nasal emission, nasoendoscopic velopharyngeal assessment and nasometry were performed preoperatively and at a minimum of two postoperative times: 3-8 months (mean 4 months) and 12-29 months (mean 17 months). Results showed no significant differences in speech and velopharyngeal function changes between the two groups. No correlation was found between the amount of advancement and the outcome measures. It was concluded that DO has no advantage over CO for the purpose of preventing velopharyngeal incompetence and speech disturbance in moderate cleft maxillary advancement.

  12. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies - USP (HRAC-USP) - Part 3: Oral and Maxillofacial Surgery

    PubMed Central

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

    2012-01-01

    This paper presents the treatment protocol of maxillofacial surgery in the rehabilitation process of cleft lip and palate patients adopted at HRAC-USP. Maxillofacial surgeons are responsible for the accomplishment of two main procedures, alveolar bone graft surgery and orthognathic surgery. The primary objective of alveolar bone graft is to provide bone tissue for the cleft site and then allow orthodontic movements for the establishment of an an adequate occlusion. When performed before the eruption of the maxillary permanent canine, it presents high rates of success. Orthognathic surgery aims at correcting maxillomandibular discrepancies, especially anteroposterior maxillary deficiencies, commonly observed in cleft lip and palate patients, for the achievement of a functional occlusion combined with a balanced face. PMID:23329251

  13. Distraction or orthognathic surgery for cleft lip and palate patients: which is better?

    PubMed

    Cheung, L K; Chua, Hannah Daile P

    2008-06-01

    Maxillary deformities of cleft lip and palate (CLP) can be treated by either conventional osteotomies (CO) or distraction osteogenesis (DO). Which one is better for CLP patients suffering from a moderate extent of maxillary hypoplasia? The aim of the study was to evaluate the treatment outcomes of CO and compared with DO in correction of moderate maxillary hypoplasia. The results showed that CLP patients receiving DO were more anxious and depressed during the first three months but became happier in the long-term. The nasalance of DO and CO was found to be similar. However, on the skeletal stability, DO was shown to be significantly more stable when compared with CO in the horizontal plane within the first six months and in vertical plane during the first three months and between 1-2 year.

  14. Strategies to improve regeneration of the soft palate muscles after cleft palate repair.

    PubMed

    Carvajal Monroy, Paola L; Grefte, Sander; Kuijpers-Jagtman, Anne Marie; Wagener, Frank A D T G; Von den Hoff, Johannes W

    2012-12-01

    Children with a cleft in the soft palate have difficulties with speech, swallowing, and sucking. These patients are unable to separate the nasal from the oral cavity leading to air loss during speech. Although surgical repair ameliorates soft palate function by joining the clefted muscles of the soft palate, optimal function is often not achieved. The regeneration of muscles in the soft palate after surgery is hampered because of (1) their low intrinsic regenerative capacity, (2) the muscle properties related to clefting, and (3) the development of fibrosis. Adjuvant strategies based on tissue engineering may improve the outcome after surgery by approaching these specific issues. Therefore, this review will discuss myogenesis in the noncleft and cleft palate, the characteristics of soft palate muscles, and the process of muscle regeneration. Finally, novel therapeutic strategies based on tissue engineering to improve soft palate function after surgical repair are presented.

  15. Analysis of velopharyngeal morphology in adults with velopharyngeal incompetence after surgery of a cleft palate.

    PubMed

    Lu, Yong; Shi, Bing; Zheng, Qian; Xiao, Wenlin; Li, Sheng

    2006-07-01

    This study analyzed the relationship of velopharyngeal morphology and velopharyngeal function among 13 adults with velopharyngeal incompetence (VPI), 14 adults with velopharyngeal competence (VPC) after primary surgical treatment of cleft palate, and 20 noncleft adults. The measurements included velar length, pharyngeal depth, pharyngeal height, and the need ratio of pharyngeal depth to velar length. In addition, the cranial base, cervical vertebrae, posterior nasal spine, and also the position of the posterior pharyngeal wall (PPW) in the pharyngeal triangle were analyzed. All data were subjected to the Student t test of statistical significance. The results showed that the VPI group had normal pharyngeal depth and a significantly shorter velar length, resulting in a greater depth/length ratio than those of the VPC group and normal control subjects. The position of PPW in the pharyngeal triangle was located significantly more superior in the VPI group compared with the VPC group and normal control subjects. Measurements of the anteroposterior and the vertical dimensions in the regions of the cranial base and cervical vertebrae revealed no significant difference among the 3 groups. According to this study, the velopharyngeal morphology of adults with VPI is characterized by a shorter palate, greater need ratio, slightly counterclockwise-rotated pharyngeal triangle, and superiorly positioned PPW.

  16. Cleft Palate Foundation

    MedlinePlus

    ... Sequence, Crouzon Syndrome, and Treacher Collins Syndrome. Cleftline™ Bears Our Cleftline™ bears bring comfort to children with cleft lip and ... anxiety they experience from having facial differences. Each bear is custom-made with stitches across its upper ...

  17. Cleft palate cells can regenerate a palatal mucosa in vitro.

    PubMed

    Liu, J; Lamme, E N; Steegers-Theunissen, R P M; Krapels, I P C; Bian, Z; Marres, H; Spauwen, P H M; Kuijpers-Jagtman, A M; Von den Hoff, J W

    2008-08-01

    Cleft palate repair leaves full-thickness mucosal defects on the palate. Healing might be improved by implantation of a mucosal substitute. However, the genetic and phenotypic deviations of cleft palate cells may hamper tissue engineering. The aim of this study was to construct mucosal substitutes from cleft palate cells, and to compare these with substitutes from normal palatal cells, and with native palatal mucosa. Biopsies from the palatal mucosa of eight children with cleft palate and eight age-matched control individuals were taken. Three biopsies of both groups were processed for (immuno)histochemistry; 5 were used to culture mucosal substitutes. Histology showed that the substitutes from cleft-palate and non-cleft-palate cells were comparable, but the number of cell layers was less than in native palatal mucosa. All epithelial layers in native palatal mucosa and mucosal substitutes expressed the cytokeratins 5, 10, and 16, and the proliferation marker Ki67. Heparan sulphate and decorin were present in the basal membrane and the underlying connective tissue, respectively. We conclude that mucosal cells from children with cleft palate can regenerate an oral mucosa in vitro.

  18. Comparison of haemodynamic responses following different concentrations of adrenaline with and without lignocaine for surgical field infiltration during cleft lip and cleft palate surgery in children.

    PubMed

    Muthukumar, Marimuthu; Arya, Virendra K; Mathew, Preety J; Sharma, Ramesh K

    2012-01-01

    Surgical field infiltration with adrenaline is common practice for quality surgical field during cleft lip and palate repair in children. Intravascular absorption of adrenaline infiltration often leads to adverse haemodynamic responses. In this prospective, double-blinded, randomised study the haemodynamic effects, quality of surgical field and postoperative analgesia following surgical field infiltration with different concentrations of adrenaline with and without lignocaine were compared in 100 American Society of Anesthesiologists physical status I children aged six months to seven years undergoing cleft lip/palate surgery. A standard anaesthesia protocol was used and they were randomised into four groups based on solution for infiltration: adrenaline 1:400,000 (group A), adrenaline 1:200,000 (group B), lignocaine + adrenaline 1:400,000 (group C) and lignocaine + adrenaline 1:200,000 (group D). Statistically significant tachycardia and hypertension occurred only in group B as compared to other groups (P <0.001). The peak changes in heart rate and mean arterial pressure following infiltration occurred at 4.3 ± 2.4, 3.8 ± 1.5, 5.7 ± 3.2 and 5.9 ± 4.9 minutes in groups A, B, C and D respectively. Surgical field was comparable among all groups. Postoperative pain scores and rescue analgesic requirements were lesser in the groups where lignocaine was added to the infiltrating solution (P <0.05). We found that 1:400000 or 1:200000 adrenaline with lignocaine 0.5 to 0.7% is most suitable for infiltration in terms of stable haemodynamics, quality of surgical field and good postoperative analgesia in children.

  19. Space Technology for Palate Surgery

    NASA Technical Reports Server (NTRS)

    1980-01-01

    University of Miami utilized NASA's spacecraft viewing technology to develop the optical profilometer provides more accurate measurements of cleft palate casts than has heretofore been possible, enabling better planning of corrective surgery. Lens like instrument electronically scans a palate cast precisely measuring its irregular contours by detecting minute differences in the intensity of a light beam reflected off the cast. Readings are computer processed and delivered to the surgeon by a teleprinter.

  20. Treatment of a patient with a bilateral cleft lip and palate with implants and surgery of the maxillary anterior region.

    PubMed

    Batra, Panchali; Agrawal, Vikas; Kiran, H Jyothi; Madanagowda, Shivalinga Barsapur

    2010-01-01

    Caring for patients with bilateral cleft lips and palates requires an interdisciplinary approach. The treatment of such a patient is described. Therapy comprised maxillary expansion, mini-implant insertion, premaxillary osteotomy, and vomeroplasty, which led to a drastic improvement of the occlusion and facial appearance.

  1. Genetics of Cleft Palate and Velopharyngeal Insufficiency

    PubMed Central

    Sweeney, Walter M.; Lanier, Steve T.; Purnell, Chad A.; Gosain, Arun K.

    2015-01-01

    Velopharyngeal insufficiency (VPI) can occur in the setting of an unrepaired or repaired cleft lip and palate. The rate of VPI has been documented as high as 33% in some studies with higher rates of recurrences following surgery associated with genetic syndromes such as 22q11.2 deletions. The primary cause of VPI in these groups is still identified as the anatomic abnormalities of the velum. In this review, the anatomy and physiology of the velum are discussed along with genetic mutations associated with VPI. PMID:27617110

  2. A Health Systems Perspective on the Mission Model for Cleft Lip and Palate Surgery: A Matter of Sustainability or Responsibility?

    PubMed

    Carlson, Lucas Cummings; Hatcher, Kristin Ward; Vanderburg, Richard; Ayala, Ruben Eduardo; Mbugua Kabetu, Charles Edward; Magee, William P; Magee, William P

    2015-06-01

    One in 700 children around the world are born with cleft lip and/or palate (CL/P). Although reconstructive surgery is widely available in high-income settings, over 2 billion people in low- and middle-income countries lack access to essential surgical care. The mission model has been demonstrated to be highly effective in responding to the global surgical workforce crisis, but has been questioned in regard to its sustainability, value, and overall impact. Through effective health systems integration, the mission model presents abundant opportunities for streamlined delivery and horizontal impact. Still, the primary goal of the mission model is direct care delivery; and although the value of sustainability is indisputably vital, we contend that the mission model, when executed responsibly, creates high-value, sustained impact on the individual lives of those presently in need. We furthermore advocate for the sustained commitment of implementing organizations, patient safety, local integration, and a new focus on patient centeredness as key elements of the responsible mission model.

  3. 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

  4. 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

  5. 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.

  6. [Cleft lip and palate--problematic cleft speech].

    PubMed

    Hortis-Dzierzbicka, M A

    1999-01-01

    The early restoration of facial and palatal morphology in patients with cleft of lip and/or palate provides the anatomical base for good speech outcome. The author gives the up todate overview of the main problems concerning cleft speech, such as velopalatal insufficiency and typical articulation errors. The article describes the modern methods for the evaluation of VPI and current trends in treatment modalities for VPI.

  7. 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.

  8. Spectrographic measures of the speech of young children with cleft lip and cleft palate.

    PubMed

    Casal, C; Domínguez, C; Fernández, A; Sarget, R; Martínez-Celdrán, E; Sentís-Vilalta, J; Gay-Escoda, C

    2002-01-01

    Twenty-two consecutive children with repaired cleft lip and/or palate [isolated cleft lip (CL) 6, isolated cleft palate (CP) 7, unilateral cleft lip and palate (UCLP) 7, and bilateral cleft lip and palate 2] with a mean age of 27 months underwent spectrographic measures of tape-recorded speech (DSP Sona-Graph digital unit). Controls were 22 age- and sex-matched noncleft children. Data analyzed included (1) the Spanish vocalic variables [a, i, u, e, o]: first formant, second formant, duration, and context; (2) obstruent variables [p, t, k]: burst, voice onset time, and duration, and (3) nasal variables [m]: first formant, second formant, and duration. Statistically significant differences were observed between the CL group and the control group in the first formant of [e] and in the increase of the frequency of the [t] burst. Comparison between UCLP and controls showed differences in the second formant of [a], in the first formant of [o], and in the second formant of [o]. These results suggest a small but significant influence of either the cleft lip or its repair on lip rounding for [o] and [u]. In addition, tongue position differences were most likely responsible for the differences seen with [a] and [e]. Spectrographic differences in the current patients did not contribute to meaningful differences in speech sound development. Individualized care (orthodontics, surgery, speech therapy) in children with cleft lip and/or palate attended at specialized craniofacial units contributes to normalization of speech development.

  9. Globalization of Craniofacial Plastic Surgery: Foreign Mission Programs for Cleft Lip and Palate

    PubMed Central

    Laub, Donald R.

    2015-01-01

    Abstract International Humanitarian Interchanges are a bona fide component of surgery and medicine. Additionally, these programs also provide substantial benefit both to the doers and the recipients. The foreign mission program is potentially a weapon of foreign policy which is underutilized and underestimated. Physician job dissatisfaction is increasing. However, the happiness and satisfaction of the participants in the short-term multidisciplinary trips, repeated, well-organized and respectful, with rather complete integration of the surgical system of the sister countries (“Plan B”), approaches 100%. The theory of the International Humanitarian Interchanges is based on substance, on medical theory. These trips are particularly successful in interchanges with medium-resourced countries. Furthermore, the academic visiting professor (“Plan A”: hi-resource place to hi-resource place), the One Man Can Save the World model (“Plan C”: to the low-resource place), and the intriguing Horton Peace Plan have possibilities for long-term benefit to the doer, recipient, the field of surgery, and the body of knowledge. In all of these, our country and the family of nations advance. The theoretical basis is not always religious nor the grand strategy plan; both have either proselytizing or political dominance as primary motives, and are mentioned as historically helpful. PMID:26080114

  10. Globalization of Craniofacial Plastic Surgery: Foreign Mission Programs for Cleft Lip and Palate.

    PubMed

    Laub, Donald R

    2015-06-01

    International Humanitarian Interchanges are a bona fide component of surgery and medicine. Additionally, these programs also provide substantial benefit both to the doers and the recipients.The foreign mission program is potentially a weapon of foreign policy which is underutilized and underestimated.Physician job dissatisfaction is increasing. However, the happiness and satisfaction of the participants in the short-term multidisciplinary trips, repeated, well-organized and respectful, with rather complete integration of the surgical system of the sister countries ("Plan B"), approaches 100%.The theory of the International Humanitarian Interchanges is based on substance, on medical theory. These trips are particularly successful in interchanges with medium-resourced countries.Furthermore, the academic visiting professor ("Plan A": hi-resource place to hi-resource place), the One Man Can Save the World model ("Plan C": to the low-resource place), and the intriguing Horton Peace Plan have possibilities for long-term benefit to the doer, recipient, the field of surgery, and the body of knowledge. In all of these, our country and the family of nations advance.The theoretical basis is not always religious nor the grand strategy plan; both have either proselytizing or political dominance as primary motives, and are mentioned as historically helpful.

  11. Speech evaluation for patients with cleft palate.

    PubMed

    Kummer, Ann W

    2014-04-01

    Children with cleft palate are at risk for speech problems, particularly those caused by velopharyngeal insufficiency. There may be an additional risk of speech problems caused by malocclusion. This article describes the speech evaluation for children with cleft palate and how the results of the evaluation are used to make treatment decisions. Instrumental procedures that provide objective data regarding the function of the velopharyngeal valve, and the 2 most common methods of velopharyngeal imaging, are also described. Because many readers are not familiar with phonetic symbols for speech phonemes, Standard English letters are used for clarity.

  12. The Fetal Cleft palate: V. Elucidation of the Mechanism of Palatal Clefting in the Congenital Caprine Model

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Maternal ingestion of Nicotiana glauca from gestation days 32 through 41 results in a high incidence of cleft palate in Spanish goats. This caprine cleft palate model was used to evaluate the temporal sequence of palatal shelf fusion throughout the period of cleft induction with the poisonous plant...

  13. Parental Reactions to Cleft Palate Children.

    ERIC Educational Resources Information Center

    Vanpoelvoorde, Leah; Shaughnessy, Michael F.

    1991-01-01

    This paper reviews parents' emotional reactions following the birth of a cleft lip/palate child. It examines when parents were told of the deformity and discusses the duties of the speech-language pathologist and the psychologist in counseling the parents and the child. (Author/JDD)

  14. Parental Reactions to Cleft Palate Children.

    ERIC Educational Resources Information Center

    Vanpoelvoorde, Leah

    This literature review examines parental reactions following the birth of a cleft lip/palate child, focusing primarily on the mother's reactions. The research studies cited have explored such influences on maternal reactions as her feelings of lack of control over external forces and her feelings of guilt that the deformity was her fault. Delays…

  15. Cleft lip and palate care in Romania.

    PubMed

    Martin, Vanessa

    2011-11-01

    Vanessa Martin travelled with a surgical team to Romania over a period of 12 years to support nurses and improve practice in the treatment of cleft lip and palate. She recounts her experiences and the changes that took place during that time.

  16. 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…

  17. Algorithms for the treatment of cleft lip and palate.

    PubMed

    Stal, S; Klebuc, M; Taylor, T D; Spira, M; Edwards, M

    1998-10-01

    Developing standardized outcomes and algorithms of treatment is a constantly evolving task. This article examines four variables in this process: cleft type, operative technique, surgical experience, and timing. Input from international cleft lip and palate programs regarding techniques and treatment modalities provide a dynamic tool for assessment and the development of guidelines in the treatment of the cleft lip and palate patient.

  18. Cleft palate in a male water buffalo calf.

    PubMed

    Mazaheri, Y; Ranjbar, R; Ghadiri, A R; Afsahr, F Saberi; Nejad, S Goorani; Mahabady, M Khaksary; Afrough, M; Karampoor, R; Tavakoli, A

    2007-12-15

    Congenital palatal defects are common in animals but there is only one report of water buffalo has been recorded in Iran. One died male water buffalo calf was examined after hysterotomy operation. At necropsy findings, brachygnathia, palate cleft and small lungs were diagnosed. It is the second report of water buffalo cleft palate in Iran.

  19. Three-dimensional digital evaluation of dental arches in infants with cleft lip and/or palate.

    PubMed

    Fernandes, Viviane Mendes; Jorge, Paula Karine; Carrara, Cleide Felício Carvalho; Gomide, Márcia Ribeiro; Machado, Maria Aparecida Andrade Moreira; Oliveira, Thais Marchini

    2015-01-01

    The aim of this study was to measure and compare the dimensions of the dental arches on three-dimensional digital study models in children with and without cleft lip and palate before the primary surgery. The sample consisted of 223 digital models of children aged 3-9 months, divided into 5 groups: without craniofacial deformities, unilateral and bilateral incomplete cleft lip and alveolus, unilateral and bilateral complete cleft lip and alveolus, unilateral cleft lip and palate, and bilateral cleft lip and palate. Dental casts of the maxillary dental arches of the children were used. The dental casts underwent a process of scanning through 3D scanner and the measurements used for the correlation among groups were made on the scanned images. Statistical analysis was performed by t test and ANOVA followed by Tukey test. The results showed that the intercanine distance and anterior cleft width was wider in children with unilateral cleft lip and palate. The intertuberosity distances and posterior cleft width was wider in children with bilateral cleft lip and palate among the groups. Children with cleft lip and palate before the primary surgery had wider maxillary arch dimensions than the children without cleft lip and palate.

  20. Association between velopharyngeal function and dental-consonant misarticulations in children with cleft lip/palate.

    PubMed

    Pulkkinen, J; Haapanen, M L; Laitinen, J; Paaso, M; Ranta, R

    2001-06-01

    We studied the association between velopharyngeal function and misarticulation of the dental consonants /r/, /s/ and /l/ in children with cleft lip/palate. We assessed 278 6-year-old Finnish-speaking non-syndromic children (115 girls, 163 boys) with isolated cleft palate (n= 81), cleft lip/alveolus (n= 82) or unilateral (n= 84) or bilateral (n= 31) cleft lip and palate. Auditory analysis of speech and velopharyngeal function, the presence of fistulae, previous velopharyngoplasty and speech therapy, as well as surgical technique and timing of primary palatal surgery were obtained from the hospital records. The misarticulations of the sounds /r/, /s/ and /l/ were evaluated in spontaneous speech by two experienced speech pathologists from the cleft team. Velopharyngeal function was categorised, on the basis of the effect on speech, into competent, marginal incompetent and obvious incompetent. Nasal grimace and distortions due to palatal fistulae were registered. The results indicated that velopharyngeal function was not significantly associated with misarticulation of any of the sounds /r/, /s/ and /l/ or their combinations in any cleft groups. The technique and timing of primary palatal surgery, the presence of fistulae and previous pharyngoplasty were not associated with misarticulations. On the basis of these results we conclude that dental-consonant misarticulations occur independently of velopharyngeal function, primary palatal surgical technique and timing of palatoplasty.

  1. Cleft Lip and Cleft Palate--What to Know and Who Can Help

    ERIC Educational Resources Information Center

    Apel, Laura

    2008-01-01

    Craniofacial defects such as cleft lip and cleft palate are among the most common of all birth defects in the United States, with one in every 600 newborns affected. Cleft lip and/or palate can occur as an isolated condition or may be one component of an inherited disease or syndrome. Dealing with the condition is an extremely difficult and…

  2. Flap Necrosis after Palatoplasty in Patients with Cleft Palate

    PubMed Central

    Rossell-Perry, Percy

    2015-01-01

    Palatal necrosis after palatoplasty in patients with cleft palate is a rare but significant problem encountered by any cleft surgeon. Few studies have addressed this disastrous complication and the prevalence of this problem remains unknown. Failure of a palatal flap may be attributed to different factors like kinking or section of the pedicle, anatomical variations, tension, vascular thrombosis, type of cleft, used surgical technique, surgeon's experience, infection, and malnutrition. Palatal flap necrosis can be prevented through identification of the risk factors and a careful surgical planning should be done before any palatoplasty. Management of severe fistulas observed as a consequence of palatal flap necrosis is a big challenge for any cleft surgeon. Different techniques as facial artery flaps, tongue flaps, and microvascular flaps have been described with this purpose. This review article discusses the current status of this serious complication in patients with cleft palate. PMID:26273624

  3. Early Speech Production of Children with Cleft Palate.

    ERIC Educational Resources Information Center

    Estrem, Theresa; Broen, Patricia A.

    1989-01-01

    The study comparing word-initial target phonemes and phoneme production of five toddlers with cleft palate and five normal toddlers found that the cleft palate children tended to target more words with word-initial nasals, approximants, and vowels and fewer words with word-initial stops, fricatives, and affricates than normal children. (Author/DB)

  4. Single-Word Intelligibility in Speakers with Repaired Cleft Palate

    ERIC Educational Resources Information Center

    Whitehill, Tara; Chau, Cynthia

    2004-01-01

    Many speakers with repaired cleft palate have reduced intelligibility, but there are limitations with current procedures for assessing intelligibility. The aim of this study was to construct a single-word intelligibility test for speakers with cleft palate. The test used a multiple-choice identification format, and was based on phonetic contrasts…

  5. Use of rotation flap in repair of cleft palate and velopharyngeal insufficiency.

    PubMed

    Isik, Daghan; Durucu, Cengiz; Isik, Yasemin; Atik, Bekir; Kocak, Omer Faruk; Karatas, Erkan; Bekerecioglu, Mehmet

    2011-07-01

    Although cleft palate anomaly is frequent, the criterion standards in surgical treatment have not been determined yet. There are a few techniques described for cleft palate repair owing to the limited tissue in the palatal mucosa, the rigid structure of the palatal mucosa, and the limited vascularity of the hard palate. In this study, a novel cleft palate repair technique based on separating the soft palate from the hard palate as a musculomucosal flap and using it as a rotation flap has been described. The operation is evaluated individually for each anomaly because variations occur in the surgical technique according to the extension of the cleft toward the teeth in the palate. This operation was performed on a total of 28 patients (17 girls and 11 boys) aged between 1.5 and 16 years and presented to our clinic. Patients were assessed for speech analysis outcomes, tympanogram values, hearing functions, magnitude of palatal lengthening during the operation, and rate of fistulae. Statistically significant differences in values of the speech analysis and the audiometric assessment were determined between before and 6 months after surgery. Complete recovery of otitis was observed 1 month after surgery without another treatment in 9 (42.8%) of 21 patients who were detected to have serous otitis media preoperatively. Tension-free closure, lower risk of fistula, good restoration of velopharyngeal functions, ability to be performed on all types of cleft palate, ability to provide a good intraoperative exposure, and being a single stage seem to be the most important advantages of this technique.

  6. Use of buccal myomucosal flap for palatal lengthening in cleft palate patient: Experience of 20 cases

    PubMed Central

    Varghese, Don; Datta, Shubharanjan; Varghese, Annie

    2015-01-01

    Background: The purpose of this review was to assess the effectiveness of the buccal myomucosal flap in secondary repairs of cleft palate in 20 patients. Patients and Methods: Totally, 20 patients, who underwent secondary palatoplasty between 5 years and 8 years in which a buccal myomucosal flap was used, were reviewed retrospectively. All patients had undergone at least one previous attempted repair at other institutions. Indications for the secondary repair included velopharyngeal incompetence and/or oronasal fistula. Patients were evaluated preoperatively for oronasal fistula status, velopharyngeal competence, nasal resonance, speech quality, and nasal escape. Results: The buccal myomucosal flap was used in all 20 patients, and there was marked increase in the quality of speech as well as nasal regurgitation decreased. In patients with levator dysfunction due to poor primary surgery and glottal speech the results were inconclusive Conclusion: Palate re-repair combined with a buccal myomucosal flap, occasionally in conjunction with other techniques, is an effective method for correcting failed cleft palate repairs. Minimum donor site morbidity and complication makes the buccal flap a useful armamentarium of a cleft surgeon. PMID:25821372

  7. Cleft Palate Habilitation; Proceedings of the Annual Symposium on Cleft Palate Habilitation (5th, Syracuse University, New York, May 11-12, 1967).

    ERIC Educational Resources Information Center

    Lencione, Ruth M., Ed.

    With emphasis on the growing interdisciplinary approach to the treatment of cleft palate, Ruth M. Lencione introduces the subject covering incidence, causes, and classification. Richard B. Stark discusses surgery of the primary pharyngeal flap and E. Harris Nober presents a review of the literature on hearing problems. Aubrey L. Ruess examined…

  8. Use of Biphasic Continuous Positive Airway Pressure in Premature Infant with Cleft Lip–Cleft Palate

    PubMed Central

    George, Lovya; Jain, Sunil K.

    2015-01-01

    Preterm infants (PIs) often require respiratory support due to surfactant deficiency. Early weaning from mechanical ventilation to noninvasive respiratory support decreases ventilation-associated irreversible lung damage. This wean is particularly challenging in PIs with cleft lip and cleft palate due to anatomical difficulties encountered in maintaining an adequate seal for positive pressure ventilation. PI with a cleft lip and palate often fail noninvasive respiratory support and require continued intubation and mechanical ventilation. We are presenting the first case report of a PI with cleft lip and palate who was managed by biphasic nasal continuous positive airway pressure. PMID:26495158

  9. Anterior pillarplasty: a modification in cleft palate repair.

    PubMed

    Çelebiler, Özhan; Ersoy, Burak; Numanoğlu, Ayhan

    2011-07-01

    After the primary repair of cleft palate, surgeons are frequently confronted with a short soft palate and a wide velopharyngeal space, both of which are known to diminish the quality of speech. We introduce a new modification of the primary repair of cleft palate that lengthens the soft palate and helps to reduce the volume of the velopharyngeal space. Ten patients younger than 12 months with nonsyndromic cleft palate were operated on with this technique. The incision at the cleft margin extended behind the uvula as a modification to the classic design of mucoperiosteal flaps. The sagittally divided mucosal layers of each anterior tonsillar pillar are sutured at the midline 1 cm posterior to the new uvula. The rate of postoperative fistula formation and other complications were evaluated postoperatively. One patient had a uvular and partly pillar detachment at the postoperative period. All other clefts healed without complication. The primary repair of the cleft palate with the anterior pillarplasty technique is a safe and easy-to-perform procedure. This modification can effectively reduce the transverse diameter of the velopharyngeal space and increase the anteroposterior length of the palate.

  10. Computational Embryology and Predictive Toxicology of Cleft Palate

    EPA Science Inventory

    Capacity to model and simulate key events in developmental toxicity using computational systems biology and biological knowledge steps closer to hazard identification across the vast landscape of untested environmental chemicals. In this context, we chose cleft palate as a model ...

  11. A review of cleft lip and palate management: Experience of a Nigerian Teaching Hospital

    PubMed Central

    Efunkoya, Akinwale Adeyemi; Omeje, Kelvin Uchenna; Amole, Ibiyinka Olushola; Osunde, Otasowie Daniel; Akpasa, Izegboya Olohitae

    2015-01-01

    Background: Cleft lip (CL) and palate (CLP) management is multidisciplinary. A cleft team was formed in a Nigerian Tertiary Hospital to address the health needs of cleft patients in the centre. Aim: This paper aims at documenting the Aminu Kano Teaching Hospital (AKTH) management protocol for orofacial clefts and also to review our experience with CLP surgeries performed at AKTH since our partnering with Smile Train. Materials and Methods: A retrospective review of all the cleft patients surgically treated from January 2006 to December 2014 under Smile Train sponsorship was undertaken. A descriptive narrative of the cleft team protocol was also given. Results: One hundred and fifty-five patients (80 males, 75 females) had surgical repairs of either the lip or palate. CL patients were 83 (53.55%), while CLP patients were 45 (29.03%) and isolated cleft palate patients were 27 (17.42%). Conclusion: The inclusion of various specialities in the cleft team is highly desirable. Poverty level amongst our patients frequently limits our management to surgical treatment sponsored by the Smile Train, despite the presence of other residual problems. PMID:26712291

  12. Feeding Techniques for Children Who Have Cleft Lip and Palate.

    ERIC Educational Resources Information Center

    Klein, Marsha Dunn

    This pamphlet on feeding techniques for children who have cleft lip and palate emphasizes the role of the parent as part of a team involving many specialists. The pamphlet begins with explanations of complete and incomplete separations of the lip, unilateral and bilateral cleft lips, corrective surgical procedures, etc. The importance of weight…

  13. PREVALENCE OF CLEFT LIP AND PALATE IN GEORGIA.

    PubMed

    Chincharadze, S; Vadachkoria, Z; Mchedlishvili, I

    2017-01-01

    Cleft lip and palate take significant place in congenital malformations. We aimed to study epidemiological peculiarities of these pathologies in Georgia for 2006-2015. We compared magnitude of its distribution with the data from 1981-1990. Prevalence of cleft lip and palate in Georgia in 2006-2015 was 0.95±0.04 per 1000 live births, while in 1981-1990- it was 1.05, i.e. in contrast to 1980's frequency of these pathological conditions decreased to some extent. Distribution of cleft lip and palate varies across the country regions. The most intensive spread has been observed in Mtskheta-Mtianeti region, where prevalence composed 2.28/1000. In the rest of the regions frequency of these pathologies is significantly lower. For instance, in Kakheti the rate is equal to 1,87/1000, in Kvemo Kartli - 1.56/1000, in Shida Kartli - 1.55/1000. In the rest of the regions prevalence rate is lower than the country average. It should be noted that in Tbilisi the rate is as low as 0.80/1000. The lowest level has been reported in Guria - 0.56/1000. Currently cleft lip with palate is the most frequently occurring anomaly in Georgia accounting for 39.8% of all congenital malformations. Cleft lip alone ranks the second - 36.1%, followed by cleft palate (24.1%). These pathologies are more frequent in boys than in girls. 60.3% of the cases are reported in males, in contrast to girls - 39.7% (p<0.01). Usually, cleft palate is the most common among girls, but in our case, it had higher prevalence among boys, 53.6% vs. 46,4%. Thus cleft lip and palate distribution in Georgia is characterized by epidemiological peculiarities, which should be considered in implementation of preventive measures.

  14. Treatment for Adults (with Cleft Lip and Palate)

    MedlinePlus

    ... throat, hearing, dentistry, speech, oral surgery, nursing, and psychology among others. You can obtain the names of ... of the cleft team, particularly the psychologist and social worker. Interaction with other adults with clefts, through ...

  15. Roberts-SC syndrome, a rare syndrome and cleft palate repair.

    PubMed

    Murthy, Jyotsna; Dewan, Madhu; Hussain, Altaf

    2008-07-01

    Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.

  16. Prosthetic management of soft palate cleft--a case report.

    PubMed

    Dosumu, O O; Ogunrinde, T J; Ogundipe, O T

    2006-09-01

    The treatment of cleft in the soft palate can be achieved essentially by surgical reconstruction or prosthetic obturation. The goals of prosthetic intervention are to prevent food and liquid leakage into the nose and to improve speech intelligibility by ensuring functional velopharyngeal port closure. In this report, the prosthetic management of a 5-year-old child with soft palatal cleft is presented. The impression of the cleft was taken with tissue conditioner, Visco -gel, TM (De Trey, Amalgamated Dental London) and the pharyngeal obturator (speech bulb) was made in clear acrylic resin. Patient tolerated the appliance well and was referred to speech therapist for speech articulation.

  17. Simplified feeding appliance for an infant with cleft palate.

    PubMed

    Masih, Shaila; Chacko, Reena Annie; Thomas, Abi M; Singh, Namita; Thomas, Rodny; Abraham, Deena

    2014-01-01

    A child born with cleft palate may experience difficulties while feeding. Early surgical treatment may need to be postponed until certain age and weight gain of the infant. The case presented here is of a 1-month-old neonate born with cleft palate, assisted with a new feeding appliance made with ethylene vinyl acetate using pressure molding technique to aid in proper feeding. The patient's weight and health significantly improved after the insertion of obturator. The advantages of this material included being lightweight, moldability, good palatal fit and decreased soft tissue injury.

  18. Pre Surgical Nasoalveolar Molding: Changing Paradigms in Early Cleft Lip and Palate Rehabilitation

    PubMed Central

    Murthy, Prashanth Sadashiva; Deshmukh, Seema; Bhagyalakshmi, A; Srilatha, KT

    2013-01-01

    Background: Alveolar and nasal reconstruction for patients with cleft lip and palate is a challenge for the reconstructive surgeon. Various procedures have been attempted to reduce the cleft gap so as to obtain esthetic results post surgically. Yet there is need of continuous exploration of newer and better methods. Rehabilitation of cleft lip and palate generally requires a team approach with paedodontists playing a major role of performing nasoalveolar molding. Presurgical Nasoalveolar Molding (PNAM) was introduced to reshape the alveolar and nasal segments prior to surgical repair. Over the time there have been changes in the concepts of the same. To assess these changing concepts a pubmed search was performed with different related terminologies and articles over a period of 30 years were obtained. Among the articles retrieved, studies performed over different concepts in early management of cleft lip and palate was selected for the systematic review. Aims This paper describes the changing paradigms in the management of patients with cleft lip and palate, focuses on the current concept of Presurgical nasoalveolar molding(PNAM) and discusses the long term benefits of the same. Conclusion The concept of the management of cleft lip and palate has changed over the time with more emphasis on the nasal and alveolar molding prior to the primary lip repair. This molding reduces the number reconstructive surgeries performed later for the purpose of esthetics. How to cite this article: Murthy P S, Deshmukh S, Bhagyalakshmi A, Srilatha K T. Pre Surgical Nasoalveolar Molding: Changing Paradigms in Early Cleft Lip and Palate Rehabilitation. J Int Oral Health 2013; 5(2):76-86. PMID:24155594

  19. The Effect of Cleft Palate Repair on Contractile Properties of Single Permeabilized Muscle Fibers From Congenitally Cleft Goats Palates

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A cleft palate goat model was used to study the contractile properties of the levator veli palatini (LVP) muscle which is responsible for the movement of the soft palate. In 15-25% of patients that undergo palatoplasty, residual velopharyngeal insufficiency (VPI) remains a problem and often require...

  20. 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.

  1. Dislocated Tongue Muscle Attachment and Cleft Palate Formation.

    PubMed

    Kouskoura, T; El Fersioui, Y; Angelini, M; Graf, D; Katsaros, C; Chiquet, M

    2016-04-01

    In Pierre Robin sequence, a retracted tongue due to micrognathia is thought to physically obstruct palatal shelf elevation and thereby cause cleft palate. However, micrognathia is not always associated with palatal clefting. Here, by using the Bmp7-null mouse model presenting with cleft palate and severe micrognathia, we provide the first causative mechanism linking the two. In wild-type embryos, the genioglossus muscle, which mediates tongue protrusion, originates from the rostral process of Meckel's cartilage and later from the mandibular symphysis, with 2 tendons positive for Scleraxis messenger RNA. In E13.5 Bmp7-null embryos, a rostral process failed to form, and a mandibular symphysis was absent at E17.5. Consequently, the genioglossus muscle fibers were diverted toward the lingual surface of Meckel's cartilage and mandibles, where they attached in an aponeurosis that ectopically expressed Scleraxis. The deflection of genioglossus fibers from the anterior-posterior toward the medial-lateral axis alters their direction of contraction and necessarily compromises tongue protrusion. Since this muscle abnormality precedes palatal shelf elevation, it is likely to contribute to clefting. In contrast, embryos with a cranial mesenchyme-specific deletion of Bmp7 (Bmp7:Wnt1-Cre) exhibited some degree of micrognathia but no cleft palate. In these embryos, a rostral process was present, indicating that mesenchyme-derived Bmp7 is dispensable for its formation. Moreover, the genioglossus appeared normal in Bmp7:Wnt1-Cre embryos, further supporting a role of aberrant tongue muscle attachment in palatal clefting. We thus propose that in Pierre Robin sequence, palatal shelf elevation is not impaired simply by physical obstruction by the tongue but by a specific developmental defect that leads to functional changes in tongue movements.

  2. Protocols in Cleft Lip and Palate Treatment: Systematic Review

    PubMed Central

    de Ladeira, Pedro Ribeiro Soares; Alonso, Nivaldo

    2012-01-01

    Objectives. To find clinical decisions on cleft treatment based on randomized controlled trials (RCTs). Method. Searches were made in PubMed, Embase, and Cochrane Library on cleft lip and/or palate. From the 170 articles found in the searches, 28 were considered adequate to guide clinical practice. Results. A scarce number of RCTs were found approaching cleft treatment. The experimental clinical approaches analyzed in the 28 articles were infant orthopedics, rectal acetaminophen, palatal block with bupivacaine, infraorbital nerve block with bupivacaine, osteogenesis distraction, intravenous dexamethasone sodium phosphate, and alveoloplasty with bone morphogenetic protein-2 (BMP-2). Conclusions. Few randomized controlled trials were found approaching cleft treatment, and fewer related to surgical repair of this deformity. So there is a need for more multicenter collaborations, mainly on surgical area, to reduce the variety of treatment modalities and to ensure that the cleft patient receives an evidence-based clinical practice. PMID:23213503

  3. Assessment of differentially expressed plasma microRNAs in nonsyndromic cleft palate and nonsyndromic cleft lip with cleft palate

    PubMed Central

    Li, Qian; Chen, Ling; Gao, Yanli; Yan, Hui; Zhou, Bei; Li, Jun

    2016-01-01

    Plasma microRNAs (miRNAs) have recently emerged as a new class of regulatory molecules that influence many biological functions. However, the expression profile of plasma microRNAs in nonsyndromic cleft palate (NSCP) or nonsyndromic cleft lip with cleft palate (NSCLP) remains poorly investigated. In this study, we used Agilent human miRNA microarray chips to monitor miRNA levels in three NSCP plasma samples (mixed as the CP group), three NSCLP plasma samples (mixed as the CLP group) and three normal plasma samples (mixed as the Control group). Six selected plasma miRNAs were validated in samples from an additional 16 CP, 33 CLP and 8 healthy children using qRT-PCR. Using Venn diagrams, distinct and overlapping dysregulated miRNAs were identified. Their respective target genes were further assessed using gene ontology and pathway analysis. The results show that distinct or overlapping biological processes and signalling pathways were involved in CP and CLP. Our study showed that the common key gene targets reflected functional relationships to the Notch, Wnt, phosphatidylinositol and Hedgehog signalling pathways. Further studies should examine the mechanism of the potential target genes, which may provide new avenues for future clinical prevention and therapy. PMID:27863433

  4. Cleft Lip and Palate Surgery

    MedlinePlus

    ... and “type and cross” to check your child’s blood type) • Take a complete medical history of your child • Do a complete physical examination of your child Always tell your child’s ... hard for your child’s blood to clot. Ask your child’s doctor or OMS ...

  5. One-flap Palatoplasty: A Cohort Study to Evaluate a Technique for Unilateral Cleft Palate Repair

    PubMed Central

    Cotrinal-Rabanal, Omar; Caceres-Nano, Evelyn

    2015-01-01

    Background: The 2-flap palatoplasty technique is actually the approach most commonly used in the United States for cleft palate repair. This is a one-time surgery that enables closure under minimal tension, lowering rates of subsequent fistula development. However, its primary disadvantage is potential detriment to maxillary growth (due to extent of dissection on both sides of the cleft and raw lateral surfaces). Since 2007, a surgical technique using only one mucoperiosteal flap from the noncleft side has been performed by us, reducing the extent of the surgery and its potential nondesirable effects over the palate. The purpose of this study is to evaluate the utility of this technique for unilateral cleft palate repair. Methods: This is a retrospective, simple-blinded cohort study between 2 groups of 120 patients each with unilateral cleft palate who were operated on using the 2-flap and 1-flap techniques by the Outreach Surgical Center Program Lima from 2007 to 2012. Data collection was accomplished by physical examination to evaluate the presence or absence of a fistula and to evaluate the presence of hypernasality. Postoperative bleeding was also studied. Results: We have observed no increase in the rate of fistulas and velopharyngeal insufficiency between these 2 studied groups (P = 0.801 and P = 1.000). Conclusions: Use of a 1-flap technique for unilateral cleft palate repair allowed us to achieve results comparable to those of a 2-flap technique in terms of postoperative fistula development and hypernasal speech. Additional studies are required to evaluate the effect of this technique on palatal growth. PMID:25973351

  6. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate

    PubMed Central

    Moreno, Lina M.; Mansilla, Maria Adela; Bullard, Steve A.; Cooper, Margaret E.; Busch, Tamara D.; Machida, Junichiro; Johnson, Marla K.; Brauer, David; Krahn, Katherine; Daack-Hirsch, Sandy; L'Heureux, Jamie; Valencia-Ramirez, Consuelo; Rivera, Dora; López, Ana Maria; Moreno, Manuel A.; Hing, Anne; Lammer, Edward J.; Jones, Marilyn; Christensen, Kaare; Lie, Rolv T.; Jugessur, Astanand; Wilcox, Allen J.; Chines, Peter; Pugh, Elizabeth; Doheny, Kim; Arcos-Burgos, Mauricio; Marazita, Mary L.; Murray, Jeffrey C.; Lidral, Andrew C.

    2009-01-01

    Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22–q33. To identify the etiologic gene, we undertook an iterative and complementary fine mapping strategy using family-based CL/P samples from Colombia, USA and the Philippines. Candidate genes within 9q22–q33 were sequenced, revealing 32 new variants. Concurrently, 397 SNPs spanning the 9q22–q33 2-LOD-unit interval were tested for association. Significant SNP and haplotype association signals (P = 1.45E − 08) narrowed the interval to a 200 kb region containing: FOXE1, C9ORF156 and HEMGN. Association results were replicated in CL/P families of European descent and when all populations were combined the two most associated SNPs, rs3758249 (P = 5.01E − 13) and rs4460498 (P = 6.51E − 12), were located inside a 70 kb high linkage disequilibrium block containing FOXE1. Association signals for Caucasians and Asians clustered 5′ and 3′ of FOXE1, respectively. Isolated cleft palate (CP) was also associated, indicating that FOXE1 plays a role in two phenotypes thought to be genetically distinct. Foxe1 expression was found in the epithelium undergoing fusion between the medial nasal and maxillary processes. Mutation screens of FOXE1 identified two family-specific missense mutations at highly conserved amino acids. These data indicate that FOXE1 is a major gene for CL/P and provides new insights for improved counseling and genetic interaction studies. PMID:19779022

  7. A modified feeding plate for a newborn with cleft palate.

    PubMed

    Erkan, Mustafa; Karaçay, Seniz; Atay, Arzu; Günay, Yumuşhan

    2013-01-01

    Objectives : Cleft palate is a common congenital maxillofacial defect. We wish to present the fabrication of a modified feeding plate that will adapt to the changing palatal and velopharyngeal morphology during function. Case Report : A neonate with unilateral cleft lip and palate was referred to our clinic for the fabrication of a feeding plate. Intraoral examination revealed a cleft involving the uvula and the soft palate, with an alveolar defect on the left side. An impression was taken and a dental cast was obtained. A 1-mm Bioplast clear soft plate was pressed on the model. After trimming the edges of the plate, several retentive holes were made for its attachment to the hard plate. With the Bioplast soft plate replaced on the cast, plaster was used to cover parts of the soft plate that were not to come in contact with the hard plate. Biocryl resin was put on the retentive holes and 2-mm Biocryl C Rosa-transparent plate was pressed. The edges of the plate were cut, trimmed, and polished. Conclusion : This modified feeding plate effectively obstructed the soft palate defect. The adaptation of the flexible bulb of the appliance with the soft palate was excellent. Evaluation with nasoendoscopy revealed the synchronized movement of the bulb of the appliance with the soft palate during swallowing. Soft extension of the feeding plate eliminated the risk of irritation, and the baby accepted the appliance easily.

  8. A Comparative Study of Oral Microbiota in Infants with Complete Cleft Lip and Palate or Cleft Soft Palate

    PubMed Central

    Tanasiewicz, Marta

    2017-01-01

    Few reports have been published on the early microbiota in infants with various types of cleft palate. We assessed the formation of the oral microbiota in infants with complete cleft lip and palate (CLP n = 30) or cleft soft palate (CSP n = 25) in the neonatal period (T1 time) and again in the gum pad stage (T2 time). Culture swabs from the tongue, palate, and/or cleft margin at T1 and T2 were taken. We analysed the prevalence of the given bacterial species (the percentage) and the proportions in which the palate and tongue were colonised by each microorganism. At T1, Streptococcus mitis (S. mitis) were the most frequently detected in subjects with CLP or CSP (63% and 60%, resp.). A significantly higher frequency of methicillin-sensitive Staphylococcus aureus (S. aureus MSSA) was observed in CLP compared to the CSP group. At T2, significantly higher percentages of S. mitis, S. aureus MSSA, Staphylococcus epidermidis, and members of the Enterobacteriaceae family were noted in CLP infants compared to the CSP. S. mitis and Streptococcus sanguinis appeared with the greatest frequency on the tongue, whereas Streptococcus salivarius was predominant on the palate. The development of the microbiota in CLP subjects was characterised by a significant increase in the prevalence of pathogenic bacteria. PMID:28393073

  9. Posteriorly based lateral tongue flap for reconstruction of large palatal-alveolar fistulas in cleft patients

    PubMed Central

    Rahpeyma, Amin; Khajehahmadi, Saeedeh

    2015-01-01

    Background: Large palatal fistula in cleft patients is a difficult situation, especially with previous multiple surgeries, which have led to severe scars in the palatal mucosa. Tongue flaps are useful aids in such situations. Materials and Methods: Seven cleft patients who were reconstructed by posteriorly based lateral tongue flap between 2005 and 2012 were studied. Variables such as flap-ability to close the fistula, remaining tongue shape at least 1 year after operation, and speech improvement (patients’ self-assessment) were evaluated. Results: Age range of the patients was 14‒45 years. The male-to-female ratio was 2/7. Posteriorly based lateral tongue flap effectively closed the large fistula in 6/7 of patients. The largest dimensions of fistula closed by this flap was 5 cm × 1.5 cm. Follow-up of 2‒7 years showed that the tongue never returned to the original size and remained asymmetrical. In addition, the nasal speech did not improve dramatically after the closure of large palatal/alveolar fistulas in this age group. Conclusion: Posteriorly based lateral tongue flap is an effective method to solve the problem of large palatal fistulas in adult cleft patients. The most useful indication for this flap is a large longitudinal palatal fistula, extending to the alveolar process. Asymmetrical tongue shape after surgery is the rule and speech improvement depends on patient's age and location of fistula. PMID:26981466

  10. An extraorally activated expansion appliance for cleft palate infants.

    PubMed

    Latham, R A; Kusy, R P; Georgiade, N G

    1976-07-01

    A new lever-action expansion appliance is described which is designed specifically for use in infants with cleft lip and palate. An extraoral control knob allows for easy activation, while the important anterior cleft areas are left clear for premaxillary repositioning and clinical assessment. Activation is registered by a positive clicking sound. Rapid expansion is made possible by the design of the appliance which is retained by stainless steel pins.

  11. A new technique for feeding dogs with a congenital cleft palate for surgical research.

    PubMed

    Martínez-Sanz, Elena; Casado-Gómez, Inmaculada; Martín, Concepción; López-Gordillo, Yamila; González, Pablo; Rodríguez-Bobada, Cruz; Paradas, Irene; González-Meli, Beatriz; Maldonado, Estela; Maestro, Carmen; Prados, Juan Carlos; Martínez-Álvarez, Concepción

    2011-04-01

    In humans, cleft palate (CP) is one of the most common malformations. Although surgeons use palatoplasty to close CP defects in children, its consequences for subsequent facial growth have prompted investigations into other novel surgical alternatives. The animal models of CP used to evaluate new surgical treatments are frequently obtained by creating surgically induced clefts in adult dogs. This procedure has been ethically criticized due to its severity and questionable value as an animal model for human CP. Dogs born with a congenital CP would be much better for this purpose, provided they developed CP at a sufficient rate and could be fed. Up until now, feeding these pups carried the risk of aspiration pneumonia, while impeding normal suckling and chewing, and thus compromising orofacial growth. We developed a technique for feeding dog pups with CP from birth to the time of surgery using two old Spanish pointer dog pups bearing a complete CP. This dog strain develops CP in 15-20% of the offspring spontaneously. Custom-made feeding teats and palatal prostheses adapted to the pups' palates were made from thermoplastic plates. This feeding technique allowed lactation, eating and drinking in the pups with CP, with only sporadic rhinitis. To determine whether the use of this palatal prosthesis interferes with palatal growth, the palates of three littermate German shorthaired pointer pups without CP, either wearing or not wearing (controls) the prosthesis, were measured. The results showed that the permanent use of this prosthesis does not impede palatal growth in the pups.

  12. Cleft size at the time of palate repair in complete unilateral cleft lip and palate as an indicator of maxillary growth.

    PubMed

    Liao, Y-F; Prasad, N K K; Chiu, Y-T; Yun, C; Chen, P K-T

    2010-10-01

    Cleft size at the time of palate repair might affect the difficulty of surgical repair and, thus, indirectly postoperative maxillary growth. This retrospective study aimed to determine whether a correlation existed between the cleft size at the time of palate repair and the growth of the maxilla. Maxillary dental casts of 39 infants with non-syndromic complete unilateral cleft lip and palate, taken at the time of palate repair, were used to measure cleft size. Cleft size was defined as the percentage of the total palatal area. The later growth of the maxilla was determined using lateral and postero-anterior cephalometric radiographs taken at 9 years of age. The Pearson correlation analysis was used for statistical analysis. The results showed negative correlations between cleft size and the maxillary length (PMP-ANS, PMP-A) and the maxillary protrusion (S-N-ANS, SNA). These data suggest that in patients with complete unilateral cleft lip and palate there is a significant correlation between the cleft size at the time of palate repair and the maxillary length and protrusion. Patients with a large cleft at the time of palate repair have a shorter and more retrusive maxilla than those with a small cleft by the age of 9 years.

  13. Presurgical orthopedic premaxillary alignment in cleft lip and palate reconstruction.

    PubMed

    Papay, F A; Morales, L; Motoki, D S; Yamashiro, D K

    1994-11-01

    Premaxillary malposition is a difficult problem in cleft lip and palate repair. Orthopedic palatal devices are excellent in positioning the premaxilla, though they are somewhat cumbersome and require complex techniques in adjusting precisely the position of the premaxilla prior to repair. A new technique has been developed for premaxillary repositioning in conjunction with palatal shelf expansion and obturation. The procedure implements microplate fixation anterior to the premaxillary segment and linked to a palatal splint by adjustable elastics. The microplate is inserted through a nasal floor incision and secured by a tight submucosal tunnel through minimal dissection between the prolabium and premaxilla. The last hole of each microplate protrudes through the mucosa and is attached to a pin-retained palatal splint by an elastic chain. Differential tension is applied to the chains to allow gradual repositioning of the protruding maxilla while the splint expands and maintains positioning of the lateral palatal segments. These elastic retractors can be adjusted by staff in the outpatient office. During the past 2 years, this technique has been used successfully in 21 consecutive patients with unilateral or bilateral cleft lip and palate. Its technical ease and design allows simple adjustments to control premaxillary positioning and growth before definitive surgical closure.

  14. 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.

  15. Production of Two Nasal Sounds by Speakers With Cleft Palate.

    PubMed

    Bressmann, Tim; Radovanovic, Bojana; Harper, Susan; Klaiman, Paula; Fisher, David; Kulkarni, Gajanan V

    2016-12-29

    Manyspeakers with cleft palate develop atypical consonant productions, especially for pressure consonants such as plosives, fricatives, and affricates. The present study investigated the nature of nasal sound errors. The participants were eight female and three male speakers with cleft palate between the ages of 6 to 20. Speakers were audio-recorded, and midsagittal tongue movement was captured with ultrasound. The speakers repeated vowel-consonant-vowel with the vowels /α/, /i/, and /u/ and the alveolar and velar nasal consonants /n/ and //. The productions were reviewed by three listeners. The participants showed a variety of different placement errors and insertions of plosives, as well as liquid productions. There was considerable error variability between and within speakers, often related to the different vowel contexts. Three speakers co-produced click sounds. The study demonstrated the wide variety of sound errors that some speakers with cleft palate may demonstrate for nasal sounds. Nasal sounds, ideally in different vowel contexts, should be included in articulation screenings for speakers with cleft palate, perhaps more than is currently the case.

  16. [Lipid peroxidation indices in children with congenital cleft palate].

    PubMed

    Nagirnyĭ, Ia P

    1989-01-01

    Observed were 66 children with congenital palate clefts and a control group of 25 children. The data suggest that the disease involves the lipid peroxidation disorders and impairment of the antioxydative defence. The results can be used for designing the antioxydant and membrane-stabilizing therapies in out-patient departments.

  17. Speech and language in the patient with cleft palate.

    PubMed

    Mildinhall, Sue

    2012-01-01

    This chapter describes the normal development of speech and speech problems that may arise for the child born with cleft lip and/or palate. It describes current trends and the importance of multidisciplinary working in this complex field. The contribution of the speech and language therapist to the management of this population is considered.

  18. 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.

  19. Can Peripheral Hearing Justify the Speech Disorders in Children with Operated Cleft Palate?

    PubMed Central

    Cerom, Jaqueline Lourenço; Macedo, Camila de Cássia; Feniman, Mariza Ribeiro

    2013-01-01

    Introduction Any impairment in the hearing ability of a child with cleft lip and palate may cause difficulties in receptive and expressive language. Purpose Check the association between velopharyngeal dysfunction (VPD), compensatory articulation (CA), and peripheral hearing loss in children with cleft palate surgery. Methods Retrospective study with 60 children (group 1: presence of VPD and CA; group 2: absence of VPD, presence of CA; group 3: presence of VDP, absence of CA; group 4: absence of VPD and CA), age 4 to 5 years old, with cleft palate surgery, through the analysis of the hearing, VP, and speech evaluations. Results Group 4 presented 80% normal hearing; group 1 had 60% hearing loss. The conductive hearing loss type was the most frequent. The glottal stop was the most frequent in group 1 and the middorsum palatal plosive in group 2. There was no significant association (p = 0.05) between hearing loss and the presence of compensatory articulations (groups 2 and 4), nor between hearing loss and the presence of VPD (groups 3 and 4; p = 0.12). Statistical significance (p = 0.025) was found when the group with VPD was associated with the group with CA, that is, group 1 with the control group (group 4). Conclusion Significant association between peripheral hearing loss, compensatory articulations, and VPD was verified for the children in group 1, which not only presented compensatory articulations but also VPD. PMID:25992059

  20. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis

    PubMed Central

    Solanki, Shailesh; Babu, M. Narendra; Gowrishankar; Ramesh, S.

    2016-01-01

    A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis. PMID:27274132

  1. The lack of isolated palatal clefts in Czech Gypsies.

    PubMed

    Peterka, M; Peterková, R; Likovský, Z

    2006-01-01

    Orofacial clefts are usually divided into three basic types: isolated cleft lip (CL), cleft lip and palate (CLP) and isolated cleft palate (CP). The incidence of specific cleft types in a population and their relative numbers show specific differences between ethnic groups and races. However, there are no available data about the incidence and relative numbers of orofacial cleft types (CL, CLP, CP) in the gypsy ethnic group. The aim of this study was to compare relative numbers of specific types of orofacial clefts between the Czech gypsy and non-gypsy populations. We conducted a retrospective epidemiological study using a set of all living patients with orofacial clefts born in the Czech Republic from 1964 until 2002. The cleft patients were subdivided into three groups: 5304 non-gypsy children, both parents of whom were non-gypsies (NN), 98 gypsy children, both parents of whom were gypsies (GG) and 18 children with one parent non-gypsy and one parent gypsy (NG). The relative number of isolated CP was 37.1% in NN children. However, the relative number of CP was significantly reduced to 5.1% (P < 0.01) in the GG group. Conversely, the relative number of CLP was higher (P < 0.01) in the GG group (62.2%) in comparison to the NN group (39.2%). The tendency to decrease in the relative number of CP and increase in the relative number of CLP was also apparent in the NG group, but not so well expressed. We hypothesize that the decrease in CP and increase in CLP and CL in gypsies might be caused by their genetic predis-position to CL. Since the CP originates later than CL during embryonic development, some CP arise in embryos with already existing CL giving rise to CLP. Consequently, the missing isolated CP might be hidden in the group of CLP patients postnatally.

  2. Initial counselling for cleft lip and palate: parents' evaluation, needs and expectations.

    PubMed

    Kuttenberger, J; Ohmer, J N; Polska, E

    2010-03-01

    During the first counselling after the birth of a child with cleft lip and palate (CLP) information about the malformation should be delivered and a long-standing relationship between the cleft team and the affected family must be established. The present study was conducted to evaluate the parents' experiences, needs and expectations with this first consultation. A questionnaire was sent to 105 parents at the cleft clinic, which could be answered anonymously. It collected demographic data, data on the parents' pre-existing level of information and the parents' assessment of the counselling at the cleft centre. Seventy percent of the questionnaires were returned. In 16% the clefts were diagnosed prenatally, in 32% there were relatives with clefts. Seventy-one percent of the parents received detailed counselling, 89% of which occurred in the first week. The parents requested that information about surgery (80%), feeding the child (63%) and the aetiology of clefts (44%) should be given. The quality of the consultation was rated very good or good by 87% of families. This study confirms the importance of initial counselling for CLP. The exceptional psychological situation of the family has to be considered and a close collaboration between cleft centre and maternity hospitals is mandatory.

  3. A bibliometric analysis of the 50 most cited papers in cleft lip and palate.

    PubMed

    Mahon, Nicola A; Joyce, Cormac W

    2015-02-01

    Citation analysis is an established bibliometric method which catalogues papers according to the number of times they have been referenced. It is believed that the total number of citations an article receives reflects its importance among its peers. Never before has a bibliometric analysis been performed in the area of Cleft Lip and Palate. Our citation analysis creates a comprehensive list of the 50 most influential papers in this field. Journals specializing in Cleft Palate, Craniofacial, Plastic Surgery, Maxillofacial Surgery, Aesthetics and Radiology were searched to establish which articles most enriched the specialty over the past 70 years. The results show an interesting collection of papers which reveal developing trends in surgical techniques. These landmark papers mould and influence management and decision-making today.

  4. Modified Activation Technique for Nasal Stent of Nasoalveolar Molding Appliance for Columellar Lengthening in Bilateral Cleft Lip/Palate.

    PubMed

    Patil, Pravinkumar G; Nimbalkar-Patil, Smita P

    2016-03-22

    Bilateral cleft lip/cleft palate is associated with nasal deformities typified by a short columella. The presurgical nasoalveolar molding (NAM) therapy approach includes reduction of the size of the intraoral alveolar cleft as well as positioning of the surrounding deformed soft tissues and cartilages. In a bilateral cleft patient, NAM, along with columellar elongation, eliminates the need for columellar lengthening surgery. Thus the frequent surgical intervention to achieve the desired esthetic results can be avoided. This article proposes a modified activation technique of the nasal stent for a NAM appliance for columellar lengthening in bilateral cleft lip/palate patients. The design highlights relining of the columellar portion of the nasal stent and the wire-bending of the nasal stent to achieve desirable results within the limited span of plasticity of the nasal cartilages. With this technique the vertical taping of the premaxilla to the oral plate can be avoided.

  5. A digital approach to photographing and measuring cleft lip and palate dental study casts.

    PubMed

    Goodfellow, Nicky

    2007-06-01

    This paper discusses whether a digital photographic technique can be used to produce a measurably accurate image of a dental cast arch, in order to assist the outcome assessments of cleft lip and palate surgery. It describes the measurement techniques, and discusses the factors affecting reproducibility. The results indicate that measurements which were taken from a digital image, using an on-screen measuring tool, correlated significantly with measurements taken manually from a plaster dental cast arch.

  6. [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

  7. Assessing Angle's malocclusion among cleft lip and/or palate patients in Jammu

    PubMed Central

    Gupta, Akshay; Gupta, Anur; Bhardwaj, Amit; Vikram, S.; Gomathi, Ajeetha; Singh, Karanprakash

    2016-01-01

    Objective: The study was conducted to examine the patients with abnormalities of cleft lip and/or palate and its association with different types of malocclusion. Materials and Methods: This descriptive study was done among 168 patients with abnormalities of cleft lip and/or palate. Angle's classification of malocclusion was applied for assessment of occlusion as Class I, Class II, and Class III. The types of oral clefts classification such as cleft lip unilateral and cleft lip bilateral, cleft palate (CP), unilateral cleft lip with palate (UCLP) and bilateral cleft lip with palate (BCLP) was considered. Chi-square test was applied to analyze the data at P < 0.05. Results: The study showed different categories of clefts patients as cleft lip (81), CP (31), and both cleft lip and palate (53). The occurrence of unilateral cleft lip (44) was maximum among the sample followed by UCLP (39), and bilateral cleft lip (31). Maximum subjects with Class II (10.7%) and Class III (4.9%) malocclusion were seen with unilateral cleft lip deformities. None of the patients with UCLP had Class III malocclusion. Conclusion: Cleft lip was the most commonly observed deformity and high frequency of Class II and III malocclusion was evident. Therefore, patients with such abnormalities should be screened timely. PMID:27195223

  8. Early Predictors of Attachment in Infants with Cleft Lip and/or Palate.

    ERIC Educational Resources Information Center

    Speltz, Matthew L.; And Others

    1997-01-01

    Examined attachment classification of children with cleft lip and palate (CLP) and isolated cleft palate (ICP) and comparison group at 12 months of age; found no significant differences. Findings suggest that infants with clefts, despite special needs and caregiving requirements, seem not to have elevated risk for insecure attachments at the end…

  9. Ten-Year Cleft Surgery in Nepal: Achievements and Lessons Learned for Better Cleft Care Abroad

    PubMed Central

    Pape, Hans-Dieter; Koch, Heribert; Koller, Michael

    2016-01-01

    Background: Cleft lip and palate surgery abroad is devoid of global consensus regarding standards of therapy, follow-up, and outcome. Cleft surgery in Nepal during a 10-year sustained program provided the opportunity to inform on the need for such standards. Methods: Medical records were evaluated from the cleft clinic at Sushma Koirala Memorial Hospital, Sankhu, Kathmandu, Nepal, from 1997 to 2007. Four groups were identified for analysis: total cohort, total surgical cohort (TSC), primary program patients (PPP; patients had not been operated on before), and nonprimary program patients (non-PPP; patients operated on elsewhere before). Patient demographics, diagnostic, primary and secondary surgery (corrective surgery), and follow-up were evaluated. Results: One thousand forty-five patients were eligible for surgery. Three hundred twenty-three of 1,045 patients (30.9%) did not seek treatment, although scheduled for surgery. One thousand two hundred one procedures were performed in 722 patients [TSC; 845 PPP (70.4%); 356 non-PPP (29.64%)]. Corrective procedures were performed in 257 of 1,201 [3.5% (30 of 845 procedures in 509 patients) PPP vs 63.7% (227 of 356 procedures in 213 patients) non-PPP]. One hundred six lips were completely reoperated on (1 PPP vs 105 non-PPP), and 42 palates underwent a total revision (5 PPP vs 37 non-PPP). The surgical outcome of the TSC group in terms of complication rate was similar to the one in developed countries. Conclusions: The high rate of corrective surgery reveals the need for global regulatory mechanisms and the need for nongovernmental organizations to introduce strategies for delivering sustained cleft care until achieving full rehabilitation. The World Health Organization should establish standards for cleft care delivered in less developed countries. PMID:27579235

  10. Extending multidisciplinary management of cleft palate to the developing world.

    PubMed

    Furr, Maxwell C; Larkin, Elissa; Blakeley, Robert; Albert, Thomas W; Tsugawa, Lance; Weber, Stephen M

    2011-01-01

    The needs of patients with a cleft lip and/or palate (CL/P) extend beyond surgical repair. A multidisciplinary approach to the care of patients with CL/P is the widely accepted standard in most regions of the developed world. Patients with CL/P in developing countries have needs similar to those of patients in industrialized nations. However, the existing shortages of healthcare resources have precluded provision of the most basic care to those with a CL/P. Innovative applications of technology can facilitate the delivery of speech therapy, evaluation of audiometric data, and limited dental evaluation for these patients with a modest financial investment. One method by which this care might be provided is with the use of Internet-based modalities. This represents a near universally available method to fill a conspicuous gap in the preoperative evaluation and postoperative care of patients with CL/P in the developing world. With rapidly expanding access to the Internet, particularly with wireless-3G connectivity worldwide, it is time to expand our delivery of humanitarian care beyond surgery alone in treating patients with CL/P in medically underserved areas.

  11. Definition of critical periods for Hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate.

    PubMed

    Heyne, Galen W; Melberg, Cal G; Doroodchi, Padydeh; Parins, Kia F; Kietzman, Henry W; Everson, Joshua L; Ansen-Wilson, Lydia J; Lipinski, Robert J

    2015-01-01

    The Hedgehog (Hh) signaling pathway mediates multiple spatiotemporally-specific aspects of brain and face development. Genetic and chemical disruptions of the pathway are known to result in an array of structural malformations, including holoprosencephaly (HPE), clefts of the lip with or without cleft palate (CL/P), and clefts of the secondary palate only (CPO). Here, we examined patterns of dysmorphology caused by acute, stage-specific Hh signaling inhibition. Timed-pregnant wildtype C57BL/6J mice were administered a single dose of the potent pathway antagonist vismodegib at discrete time points between gestational day (GD) 7.0 and 10.0, an interval approximately corresponding to the 15th to 24th days of human gestation. The resultant pattern of facial and brain dysmorphology was dependent upon stage of exposure. Insult between GD7.0 and GD8.25 resulted in HPE, with peak incidence following exposure at GD7.5. Unilateral clefts of the lip extending into the primary palate were also observed, with peak incidence following exposure at GD8.875. Insult between GD9.0 and GD10.0 resulted in CPO and forelimb abnormalities. We have previously demonstrated that Hh antagonist-induced cleft lip results from deficiency of the medial nasal process and show here that CPO is associated with reduced growth of the maxillary-derived palatal shelves. By defining the critical periods for the induction of HPE, CL/P, and CPO with fine temporal resolution, these results provide a mechanism by which Hh pathway disruption can result in "non-syndromic" orofacial clefting, or HPE with or without co-occurring clefts. This study also establishes a novel and tractable mouse model of human craniofacial malformations using a single dose of a commercially available and pathway-specific drug.

  12. Caregiver responses to early cleft palate care: A mixed method approach

    PubMed Central

    Sischo, Lacey; Clouston, Sean; Phillips, Ceib; Broder, Hillary L.

    2015-01-01

    Objective This study sought to understand caregivers’ (CGs’) responses to early cleft lip/palate care for their infants. Method A prospective, mixed methods multicenter longitudinal study was conducted among CGs (N=118) seeking treatment for their infants’ cleft lip and palate or cleft lip only at one of six cleft treatment centers in the United States. Participants were in one of two treatment groups: traditional care only or nasoalveolar molding (NAM) plus traditional care. The CGs completed semi-structured interviews and standardized questionnaires assessing psychosocial well-being and family impact at three time points: the beginning of treatment (~1 month of age), pre-lip surgery (~3–5 months of age), and post-palate surgery (~12–13 months of age). Multi-level modeling was used to longitudinally assess CGs’ psychosocial outcomes. Results While the first year was demanding for all CGs, NAM onset and the child’s lip surgery were particularly stressful times. CGs used optimism, problem-solving behavior, and social support to cope with this stress. Qualitatively, CGs’ ability to balance cleft treatment demands with their psychosocial resources and coping strategies influenced family adaptation. Qualitative and quantitative results indicated CGs of NAM-treated infants experienced more rapid declines in anxiety and depressive symptoms and better coping skills over time than CGs whose infants had traditional care. Conclusion CGs of NAM-treated infants experienced more positive psychosocial outcomes than CGs whose infants had traditional care. Results from the mixed model support the Family Adjustment and Adaptation Response Model as used in pediatric chronic condition research. PMID:26280177

  13. Development of the Object Permanence Concept in Cleft Lip and Palate and Noncleft Lip and Palate Infants.

    ERIC Educational Resources Information Center

    Pecyna, Paula M.; And Others

    1987-01-01

    The development of the concept of object permanence was investigated with eight infants with cleft lip/palate and four nonimpaired infants. Superior performance of the cleft lip/palate group was found, possibly due to increased environmental stimulation provided by parents. (DB)

  14. Contractile properties of single permeabilized muscle fibers from congenital cleft palates and normal palates of Spanish goats

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A goat model in which cleft palate is induced by the plant alkaloid, anabasine was used to determine muscle fiber integrity of the levator veli palatine muscle. It was determined that the muscle fibers of the cleft palate-induced goats were primarily of the type 2 (fast fibers) which fatigue easil...

  15. Radiology of Cleft Lip and Palate: Imaging for the Prenatal Period and throughout Life.

    PubMed

    Abramson, Zachary R; Peacock, Zachary S; Cohen, Harris L; Choudhri, Asim F

    2015-01-01

    Recent advances in prenatal imaging have made possible the in utero diagnosis of cleft lip and palate and associated deformities. Postnatal diagnosis of cleft lip is made clinically, but imaging still plays a role in detection of associated abnormalities, surgical treatment planning, and screening for or surveillance of secondary deformities. This article describes the clinical entities of cleft lip with or without cleft palate (CLP) and isolated cleft palate and documents their prenatal and postnatal appearances at radiography, ultrasonography (US), magnetic resonance (MR) imaging, and computed tomography (CT). Imaging protocols and findings for prenatal screening, detection of associated anomalies, and evaluation of secondary deformities throughout life are described and illustrated. CLP and isolated cleft palate are distinct entities with shared radiologic appearances. Prenatal US and MR imaging can depict clefting of the lip or palate and associated anomalies. While two- and three-dimensional US often can depict cleft lip, visualization of cleft palate is more difficult, and repeat US or fetal MR imaging should be performed if cleft palate is suspected. Postnatal imaging can assist in identifying associated abnormalities and dentofacial deformities. Dentofacial sequelae of cleft lip and palate include missing and supernumerary teeth, oronasal fistulas, velopharyngeal insufficiency, hearing loss, maxillary growth restriction, and airway abnormalities. Secondary deformities can often be found incidentally at imaging performed for other purposes, but detection is necessary because they may have considerable implications for the patient.

  16. [The orthodontist and the child with a cleft palate].

    PubMed

    Lesne, C

    2004-09-01

    Dealing with this type of malformation, the orthodontist is confronted with a three-level problem: inter-personal, social, and technical. Because families consider the birth of a cleft palate child to be a disaster, orthodontists who undertake their treatment should understand the genesis of the turbulence that families will have to endure. Most parents learn to deal with these difficulties, but the affected children are going to have to submit to the stares of those they encounter. Adolescence is a critical period for them and it is also the time when they will visit their orthodontist most frequently. Problems that accompany treatment of these patients are numerous and the treating orthodontists must point them out and explain them tactfully. The treating team must also establish a therapeutic alliance to envelop the cleft palate patients, ensuring maintenance of expert cooperation between specialists responsible for different aspects of their treatment.

  17. Creating long-term benefits in cleft lip and palate volunteer missions.

    PubMed

    Ruiz-Razura, A; Cronin, E D; Navarro, C E

    2000-01-01

    The authors present their experience with 15 years of organizing cleft lip and palate surgical volunteer missions in Latin America. The history, basic principles, and objectives of Operation San Jose, a volunteer goodwill program from Christus St. Joseph Hospital in Houston, Texas, are covered. This report addresses the different problems encountered and solutions found. Following the principles set by Operation San Jose, CIRPLAST is a Peruvian foundation for plastic surgery that travels to remote areas in Peru, operating on patients with cleft lip and palate deformities. This report highlights the importance of working with local plastic surgeons and their residents, and emphasizes that the program should be organized by and the operations performed by accredited plastic surgeons and with the auspices and support of the national plastic surgery society and the local medical board. Operation San Jose promotes the creation of long-term benefits by offering a program to teach local surgeons cleft lip and palate repair techniques and to set up guidelines to organize local surgeons so that they can continue this effort by treating their own patients in their own countries.

  18. Radical Dissection of Greater Palatine Artery and Dynamic Reconstruction of Cleft Palate

    PubMed Central

    Gill, Nauman Ahmad; Chaudry, Ayesha; Ishaq, Irfan; Aslam, Muhammad; Shamim, Romaisa; Kafeel, Mirza Muhammad; Aazam, Muhammad; Sailer, Hermann; Ganatra, Muhammad Ashraf

    2017-01-01

    Background: Restoration of proper anatomy and physiology is an integral part of cleft palate repair. The senior author has devised a new technique of radical release of greater palatine vessels, which helps in achieving tension-free closure of palatal cleft. In addition, release and transposition of palatal muscles is performed without the use of operative microscope, resulting in improved palatal function. This technique is applicable to all types of clefts of the palate and can be performed on adult patients as well. Materials and Methods: This is a retrospective case series of cleft palate repairs performed over a period of 3 years. Single-stage repair with modified Bardach’s technique for complete cleft palate and von Langenbeck’s technique for incomplete cleft palate with radical release of greater palatine vessels and levator complex retropositioning was performed. The outcome measures were closure of palatal defect and speech production. A follow-up of at least 6 months was completed in each patient. Results: A total of 1568 patients were included in the study. Their age ranged from 9 months to 54 years. The overall fistula rate was 6.1%. Improvement of speech was observed even in adult patients. Conclusions: Radical release of greater palatine artery and levator complex transposition can dramatically improve results of cleft palate repair. This technique helps in dynamic reconstruction of cleft palate and can be effectively applied in all age groups. PMID:28280675

  19. Dental anomalies inside the cleft region in individuals with nonsyndromic cleft lip with or without cleft palate

    PubMed Central

    Sá, Jamile; Araújo, Luana; Guimarães, Laís; Maranhão, Samário; Lopes, Gabriela; Medrado, Alena; Coletta, Ricardo

    2016-01-01

    Background Individuals with non syndromic cleft lip with or without cleft palate (NSCL±P) present high frequency of dental anomalies, which may represent complicating factors for dental treatment. The aim of this study was to investigate the prevalence of dental anomalies inside cleft area in a group of Brazilians with NSCL±P. Material and Methods Retrospective analysis of 178 panoramic radiographs of patients aged from 12 to 45 years old and without history of tooth extraction or orthodontic treatment was performed. Association between cleft type and the prevalence of dental anomalies was assessed by chi-square test with a significance level set at p≤ 0.05. Results Dental anomalies were found in 88.2% (n=157) of the patients. Tooth agenesis (47.1%), giroversion (20%) and microdontia (15.5%) were the most common anomalies. Individuals with unilateral complete cleft lip and palate (CLP, p<0.0001), bilateral complete CLP (p=0.0002) and bilateral incomplete CLP (p< 0.0001) were more affected by tooth agenesis than individuals with other cleft types. The maxillary lateral incisors were the most affected teeth (p<0.0001). Conclusions The present study revealed a high frequency of dental anomalies inside cleft region in NSCL±P patients, and further demonstrated that patients with unilateral complete CLP and bilateral incomplete CLP were frequently more affected by dental anomalies. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning of individuals affected by NSCL±P. Key words:Nonsyndromic cleft lip with or without palate, dental anomaly, tooth agenesis, microdontia. PMID:26615505

  20. Correlations between initial cleft size and dental anomalies in unilateral cleft lip and palate patients after alveolar bone grafting.

    PubMed

    Jabbari, Fatima; Reiser, Erika; Thor, Andreas; Hakelius, Malin; Nowinski, Daniel

    2016-01-01

    Objective To determine in individuals with unilateral cleft lip and palate the correlation between initial cleft size and dental anomalies, and the outcome of alveolar bone grafting. Methods A total of 67 consecutive patients with non-syndromic unilateral complete cleft lip and palate (UCLP) were included from the cleft lip and palate-craniofacial center, Uppsala University Hospital, Sweden. All patients were operated by the same surgeon and treated according to the Uppsala protocol entailing: lip plasty at 3 months, soft palate closure at 6 months, closure of the residual cleft in the hard palate at 2 years of age, and secondary alveolar bone grafting (SABG) prior to the eruption of the permanent canine. Cleft size was measured on dental casts obtained at the time of primary lip plasty. Dental anomalies were registered on radiographs and dental casts obtained before bone grafting. Alveolar bone height was evaluated with the Modified Bergland Index (mBI) at 1 and 10-year follow-up. Results Anterior cleft width correlated positively with enamel hypoplasia and rotation of the central incisor adjacent to the cleft. There was, however, no correlation between initial cleft width and alveolar bone height at either 1 or 10 years follow-up. Conclusions Wider clefts did not seem to have an impact on the success of secondary alveolar bone grafting but appeared to be associated with a higher degree of some dental anomalies. This finding may have implications for patient counseling and treatment planning.

  1. Correlations between initial cleft size and dental anomalies in unilateral cleft lip and palate patients after alveolar bone grafting

    PubMed Central

    Jabbari, Fatima; Reiser, Erika; Thor, Andreas; Hakelius, Malin; Nowinski, Daniel

    2016-01-01

    Objective To determine in individuals with unilateral cleft lip and palate the correlation between initial cleft size and dental anomalies, and the outcome of alveolar bone grafting. Methods A total of 67 consecutive patients with non-syndromic unilateral complete cleft lip and palate (UCLP) were included from the cleft lip and palate-craniofacial center, Uppsala University Hospital, Sweden. All patients were operated by the same surgeon and treated according to the Uppsala protocol entailing: lip plasty at 3 months, soft palate closure at 6 months, closure of the residual cleft in the hard palate at 2 years of age, and secondary alveolar bone grafting (SABG) prior to the eruption of the permanent canine. Cleft size was measured on dental casts obtained at the time of primary lip plasty. Dental anomalies were registered on radiographs and dental casts obtained before bone grafting. Alveolar bone height was evaluated with the Modified Bergland Index (mBI) at 1 and 10-year follow-up. Results Anterior cleft width correlated positively with enamel hypoplasia and rotation of the central incisor adjacent to the cleft. There was, however, no correlation between initial cleft width and alveolar bone height at either 1 or 10 years follow-up. Conclusions Wider clefts did not seem to have an impact on the success of secondary alveolar bone grafting but appeared to be associated with a higher degree of some dental anomalies. This finding may have implications for patient counseling and treatment planning. PMID:26923345

  2. The developmental characteristics of mastoid pneumatisation in cleft palate children: the genetic influence.

    PubMed

    Srzentić, Mladen; Handzić, Jadranka; Trotić, Robert

    2012-09-01

    Physiologic and developmental role of mastoid pneumatisation in children with otitis media with effusion (OME) is still controversial. For measuring mastoid pneumatisation and examine developmental characteristics, we used children with orofacial malformation of high risk for long term negative pressure in the middle ear and are expected to have lower rate of size and growth of pneumatisation. Mastoid were measured on Schuller's mastoid X-ray pictures planimetrically in study group of 146 children with bilateral (BCLP), unilateral (UCLP) and isolated (ICP) cleft palate, and control group of non-cleft 52 children, both groups with confirmed otitis media with effusion and no previous otological surgery. The lowest pneumatisation found in BCLE, BCLP and UCLP showed no growth of mastoid with age and lower mastoid size than OME controls. ICP is the only cleft type with growth of mastoid with aging. OME patients has the highest size of mastoid and growth rate with aging.

  3. Effects of lip repair on maxillofacial morphology in patients with unilateral cleft lip with or without cleft palate.

    PubMed

    Shao, Qinghua; Chen, Zhengxi; Yang, Yang; Chen, Zhenqi

    2014-11-01

    Objective : To evaluate the effects of lip repair on maxillofacial development of patients with unilateral cleft lip with or without cleft palate. Design : Retrospective. Patients : A total of 75 patients were recruited, including 38 surgical patients with complete unilateral cleft lip and alveolus and 37 patients with complete unilateral cleft lip and palate who had lip but not palate repair. As controls, 38 patients with no cleft were selected. All subjects were divided according to two growth stages: before the pubertal peak (GS1) and after the pubertal peak (GS2). Interventions : Lateral cephalograms of all subjects were obtained. Main Outcome Measures : Cephalograms were analyzed and compared in the study and control groups. Results : The patients with unilateral cleft lip and palate in both GS1 and GS2 demonstrated an almost normal maxillary and mandibular growth with retroclined maxillary incisors. The patients with unilateral cleft lip and palate showed a shorter length of maxilla, a more clockwise-rotated mandible, and retroclined maxillary incisors. Conclusions : There was an almost normal maxillary and mandibular growth but retroclined maxillary incisors in patients with cleft lip with or without cleft palate who had received lip repair only, indicating that lip repair may not have a negative impact on the maxillofacial development and influences only the inclination of the maxillary incisors. The shorter anterior-posterior maxillary length and larger gonial angle in patients with unilateral cleft lip and palate compared with those in patients with unilateral cleft lip and alveolus suggest that these variations in maxillary and mandibular growth may be a consequence of the cleft itself.

  4. Oblique lip-alveolar banding in patients with cleft lip and palate.

    PubMed

    Naidoo, S; Bütow, K-W

    2015-04-01

    We report an oblique lip-alveolar band, a rare banding of soft tissue that involves the lip and alveolus, which we have found in five patients with cleft lip and palate (0.2%), compared with an incidence of the Simonartz lip-lip band of 5.7%). To our knowledge this has not been reported previously. In two patients the bands affected the cleft lip and alveolus bilaterally, with or without the palatal cleft, and in three the bands were unilateral cleft lip and alveolus with or without the palatal cleft.

  5. Maxillary Arch Dimensions and Spectral Characteristics of Children with Cleft Lip and Palate Who Produce Middorsum Palatal Stops

    ERIC Educational Resources Information Center

    Zajac, David J.; Cevidanes, Lucia; Shah, Sonam; Haley, Katarina L.

    2012-01-01

    Purpose: The purpose of this study was twofold: (a) to determine maxillary arch dimensions of children with repaired cleft lip and palate (CLP) who produced middorsum palatal stops and (b) to describe some spectral characteristics of middorsum palatal stops. Method: Maxillary arch width, length, and height dimensions and first spectral moments of…

  6. Prevalence at birth of cleft lip with or without cleft palate: data from the International Perinatal Database of Typical Oral Clefts (IPDTOC).

    PubMed

    2011-01-01

    As part of a collaborative project on the epidemiology of craniofacial anomalies, funded by the National Institutes for Dental and Craniofacial Research and channeled through the Human Genetics Programme of the World Health Organization, the International Perinatal Database of Typical Orofacial Clefts (IPDTOC) was established in 2003. IPDTOC is collecting case-by-case information on cleft lip with or without cleft palate and on cleft palate alone from birth defects registries contributing to at least one of three collaborative organizations: European Surveillance Systems of Congenital Anomalies (EUROCAT) in Europe, National Birth Defects Prevention Network (NBDPN) in the United States, and International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) worldwide. Analysis of the collected information is performed centrally at the ICBDSR Centre in Rome, Italy, to maximize the comparability of results. The present paper, the first of a series, reports data on the prevalence of cleft lip with or without cleft palate from 54 registries in 30 countries over at least 1 complete year during the period 2000 to 2005. Thus, the denominator comprises more than 7.5 million births. A total of 7704 cases of cleft lip with or without cleft palate (7141 livebirths, 237 stillbirths, 301 terminations of pregnancy, and 25 with pregnancy outcome unknown) were available. The overall prevalence of cleft lip with or without cleft palate was 9.92 per 10,000. The prevalence of cleft lip was 3.28 per 10,000, and that of cleft lip and palate was 6.64 per 10,000. There were 5918 cases (76.8%) that were isolated, 1224 (15.9%) had malformations in other systems, and 562 (7.3%) occurred as part of recognized syndromes. Cases with greater dysmorphological severity of cleft lip with or without cleft palate were more likely to include malformations of other systems.

  7. Epidemiology, Etiology, and Treatment of Isolated Cleft Palate

    PubMed Central

    Burg, Madeleine L.; Chai, Yang; Yao, Caroline A.; Magee, William; Figueiredo, Jane C.

    2016-01-01

    Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of cases born with cleft palate occur as part of a known genetic syndrome or with another malformation (e.g., congenital heart defects) and the other half occur as solitary defects, referred to often as non-syndromic clefts. The etiology of CPO is multifactorial involving genetic and environmental risk factors. Several animal models have yielded insight into the molecular pathways responsible for proper closure of the palate, including the BMP, TGF-β, and SHH signaling pathways. In terms of environmental exposures, only maternal tobacco smoke has been found to be strongly associated with CPO. Some studies have suggested that maternal glucocorticoid exposure may also be important. Clearly, there is a need for larger epidemiologic studies to further investigate both genetic and environmental risk factors and gene-environment interactions. In terms of treatment, there is a need for long-term comprehensive care including surgical, dental and speech pathology. Overall, five main themes emerge as critical in advancing research: (1) monitoring of the occurrence of CPO (capacity building); (2) detailed phenotyping of the severity (biology); (3) understanding of the genetic and environmental risk factors (primary prevention); (4) access to early detection and multidisciplinary treatment (clinical services); and (5) understanding predictors of recurrence and possible interventions among families with a child with CPO (secondary prevention). PMID:26973535

  8. Herpes simplex 1 stomatitis after cleft palate repair: a case report and guidelines for management.

    PubMed

    Evangelista, Maristella S; Tracy, Lauren; Wells, James H

    2015-05-01

    Herpes simplex virus (HSV) primary infection and reactivation has been associated with the inflammation and transient decrease in immunocompetence after surgery and local trauma. In addition, HSV infection is known to impair wound healing, increase risk of scarring, and impede connective tissue graft transplantation. To our knowledge, this is the first case of HSV infection complicating cleft palate repair presented in literature. In this report, we present a case of primary HSV infection occurring in a healthy 26-month-old patient after repair of the secondary cleft palate with mucoperichondrial flaps and V-Y pushback. The patient developed high fever on postoperative day 1, which was followed by perioral vesicular lesions and multiple intraoral ulcerations involving the lips, palate, and posterior pharynx. Unknown to the surgeons, the patient was exposed to HSV before surgery by a sibling with orolabial HSV infection. The infective cause was ascertained via polymerase chain reaction for HSV-1 DNA, and the infection was treated with topical and intravenous acyclovir for 1 week. The patient recovered well with adequate flap healing, good aesthetic outcome, and no complications on 1-month follow-up. This report underscores the importance of prompt recognition of herpetic infections in the patient with craniofacial surgery and reviews the association and complications of HSV infection in surgical healing. Early identification with prompt antiviral therapy and meticulous wound care are essential to ameliorate the scarring and delayed wound healing associated with HSV infection.

  9. Patterns of orofacial clefting in the facial morphology of bats: a possible naturally occurring model of cleft palate.

    PubMed

    Orr, David J A; Teeling, Emma C; Puechmaille, Sébastien J; Finarelli, John A

    2016-11-01

    A normal feature of the facial anatomy of many species of bat is the presence of bony discontinuities or clefts, which bear a remarkable similarity to orofacial clefts that occur in humans as a congenital pathology. These clefts occur in two forms: a midline cleft between the two premaxillae (analogous to the rare midline craniofacial clefts in humans) and bilateral paramedian clefts between the premaxilla and the maxillae (analogous to the typical cleft lip and palate in humans). Here, we describe the distribution of orofacial clefting across major bat clades, exploring the relationship of the different patterns of clefting to feeding mode, development of the vomeronasal organ, development of the nasolacrimal duct and mode of emission of the echolocation call in different bat groups. We also present the results of detailed radiographic and soft tissue dissections of representative examples of the two types of cleft. The midline cleft has arisen independently multiple times in bat phylogeny, whereas the paramedian cleft has arisen once and is a synapomorphy uniting the Rhinolophidae and Hipposideridae. In all cases examined, the bony cleft is filled in by a robust fibrous membrane, continuous with the periosteum of the margins of the cleft. In the paramedian clefts, this membrane splits to enclose the premaxilla but forms a loose fold laterally between the premaxilla and maxilla, allowing the premaxilla and nose-leaf to pivot dorsoventrally in the sagittal plane under the action of facial muscles attached to the nasal cartilages. It is possible that this is a specific adaptation for echolocation and/or aerial insectivory. Given the shared embryological location of orofacial clefts in bats and humans, it is likely that aspects of the developmental control networks that produce cleft lip and palate in humans may also be implicated in the formation of these clefts as a normal feature in some bats. A better understanding of craniofacial development in bats with and

  10. Pre-speech in children with cleft lip and palate or cleft palate only: phonetic analysis related to morphologic and functional factors.

    PubMed

    Lohmander-Agerskov, A; Söderpalm, E; Friede, H; Persson, E C; Lilja, J

    1994-07-01

    Pre-speech in 35 children with clefts of the lip and palate or palate only were analyzed for place and manner of articulation. Transcriptions were made from tape recorded babbling sequences. Two children without clefts were used as reference. All of the children with clefts were treated according to a regimen of early surgical repair of the velum cleft and delayed closure of the cleft in the hard palate. The frequency of selected phonetic features was calculated. Correlations between phonetic/perceptual and functional and morphological factors were tested. Supraglottal articulation dominated among all the children indicating a sufficient velopharyngeal mechanism. The results also showed correlations between cleft type and place of articulation. Anteriorly placed sounds (i.e., bilabial, dental, and alveolar sounds) occurred frequently among the children with cleft palate only and in the noncleft children. In children with cleft lip and palate, posteriorly placed articulations predominated. It was postulated that early intervention may have a positive effect on articulatory development.

  11. Latham's appliance for presurgical repositioning of the protruded premaxilla in bilateral cleft lip and palate.

    PubMed

    Bitter, K

    1992-04-01

    Dislocation of the maxillary segments in cleft lip and palate still is a challenge to the surgeon and the orthodontist. The premaxillary protrusion in bilateral cleft lip and palate, complicates the treatment severely. Latham's appliance, inserted on average at 2-months-of-age, relocates the segments over 3-4 weeks. Removal of the appliance is immediately followed by functional surgery. The first operation comprises: (1) intra-alveolar veloplasty; (2) closure of the alveolar cleft with the help of a gingivo-periosteal-plasty; (3) lip adhesion and (4) insertion of ear tubes. This operating schedule establishes the functional matrix as early as possible. Midfacial growth as well as language and speech development are provided with the necessary preconditions as far as we understand this complex situation. Five cases, being representative of 41 cases, are outlined in detail. The longest follow up period is 3 years; no growth disturbance of the maxilla has been detected to date. Definitive lip and columella surgery is facilitated.

  12. Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency

    PubMed Central

    Ysunza, Pablo Antonio; Repetto, Gabriela M.; Pamplona, Maria Carmen; Calderon, Juan F.; Shaheen, Kenneth; Chaiyasate, Konkgrit; Rontal, Matthew

    2015-01-01

    Background. One of the most controversial topics concerning cleft palate is the diagnosis and treatment of velopharyngeal insufficiency (VPI). Objective. This paper reviews current genetic aspects of cleft palate, imaging diagnosis of VPI, the planning of operations for restoring velopharyngeal function during speech, and strategies for speech pathology treatment of articulation disorders in patients with cleft palate. Materials and Methods. An updated review of the scientific literature concerning genetic aspects of cleft palate was carried out. Current strategies for assessing and treating articulation disorders associated with cleft palate were analyzed. Imaging procedures for assessing velopharyngeal closure during speech were reviewed, including a recent method for performing intraoperative videonasopharyngoscopy. Results. Conclusions from the analysis of genetic aspects of syndromic and nonsyndromic cleft palate and their use in its diagnosis and management are presented. Strategies for classifying and treating articulation disorders in patients with cleft palate are presented. Preliminary results of the use of multiplanar videofluoroscopy as an outpatient procedure and intraoperative endoscopy for the planning of operations which aimed to correct VPI are presented. Conclusion. This paper presents current aspects of the diagnosis and management of patients with cleft palate and VPI including 3 main aspects: genetics and genomics, speech pathology and imaging diagnosis, and surgical management. PMID:26273595

  13. EVIDENCE FOR EGFR PATHWAY MEDIATION OF CLEFT PALATE INDUCTION BY TCDD

    EPA Science Inventory

    EVIDENCE FOR EGFR PATHWAY MEDIATION OF CLEFT PALATE INDUCTION BY TCDD. B D Abbott, A R Buckalew, and K E Leffler. RTD, NHEERL, ORD,US EPA, RTP, NC, USA.

    2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) is teratogenic in C57BL/6J mice, producing cleft palate (CP) after exposure...

  14. Psychosocial Aspects of Cleft Lip and Palate: Implications for Parental Education. Research Report 138.

    ERIC Educational Resources Information Center

    Kalland, Mirjam

    This study focused on the psychosocial aspects of cleft lip and/or palate on maternal emotional reactions and the family, with emphasis on the effect on the maternal-infant bond. Interviews were conducted with 40 mothers of 1-year-old infants with non-syndromic cleft lip and/or palate. The interviews were analyzed using the phenomenological…

  15. Nasalance Scores of Children with Repaired Cleft Palate Who Exhibit Normal Velopharyngeal Closure during Aerodynamic Testing

    ERIC Educational Resources Information Center

    Zajac, David J.

    2013-01-01

    Purpose: To determine if children with repaired cleft palate and normal velopharyngeal (VP) closure as determined by aerodynamic testing exhibit greater acoustic nasalance than control children without cleft palate. Method: Pressure-flow procedures were used to identify 2 groups of children based on VP closure during the production of /p/ in the…

  16. A Respirometric Technique to Evaluate Velopharyngeal Function in Speakers with Cleft Palate, with and without Prostheses.

    ERIC Educational Resources Information Center

    Gilbert, Harvey R.; Ferrand, Carole T.

    1987-01-01

    Respirometric quotients (RQ), the ratio of oral air volume expended to total volume expended, were obtained from the productions of oral and nasal airflow of 10 speakers with cleft palate, with and without their prosthetic appliances, and 10 normal speakers. Cleft palate speakers without their appliances exhibited the lowest RQ values. (Author/DB)

  17. Ambulatory cleft lip surgery: A value analysis

    PubMed Central

    Arneja, Jugpal S; Mitton, Craig

    2013-01-01

    BACKGROUND: Socialized health systems face fiscal constraints due to a limited supply of resources and few reliable ways to control patient demand. Some form of prioritization must occur as to what services to offer and which programs to fund. A data-driven approach to decision making that incorporates outcomes, including safety and quality, in the setting of fiscal prudence is required. A value model championed by Michael Porter encompasses these parameters, in which value is defined as outcomes divided by cost. OBJECTIVES: To assess ambulatory cleft lip surgery from a quality and safety perspective, and to assess the costs associated with ambulatory cleft lip surgery in North America. Conclusions will be drawn as to how the overall value of cleft lip surgery may be enhanced. METHODS: A value analysis of published articles related to ambulatory cleft lip repair over the past 30 years was performed to determine what percentage of patients would be candidates for ambulatory cleft lip repair from a quality and safety perspective. An economic model was constructed based on costs associated with the inpatient stay related to cleft lip repair. RESULTS: On analysis of the published reports in the literature, a minority (28%) of patients are currently discharged in an ambulatory fashion following cleft lip repair. Further analysis suggests that 88.9% of patients would be safe candidates for same-day discharge. From an economic perspective, the mean cost per patient for the overnight admission component of ambulatory cleft surgery to the health care system in the United States was USD$2,390 and $1,800 in Canada. CONCLUSIONS: The present analysis reviewed germane publications over a 30-year period, ultimately suggesting that ambulatory cleft lip surgery results in preservation of quality and safety metrics for most patients. The financial model illustrates a potential cost saving through the adoption of such a practice change. For appropriately selected patients, ambulatory

  18. Study of relationship between clinical factors and velopharyngeal closure in cleft palate patients

    PubMed Central

    Chen, Qi; Zheng, Qian; Shi, Bing; Yin, Heng; Meng, Tian; Zheng, Guang-ning

    2011-01-01

    BACKGROUND: This study was carried out to analyze the relationship between clinical factors and velopharyngeal closure (VPC) in cleft palate patients. METHODS: Chi-square test was used to compare the postoperative velopharyngeal closure rate. Logistic regression model was used to analyze independent variables associated with velopharyngeal closure. RESULTS: Difference of postoperative VPC rate in different cleft types, operative ages and surgical techniques was significant (P=0.000). Results of logistic regression analysis suggested that when operative age was beyond deciduous dentition stage, or cleft palate type was complete, or just had undergone a simple palatoplasty without levator veli palatini retropositioning, patients would suffer a higher velopharyngeal insufficiency rate after primary palatal repair. CONCLUSIONS: Cleft type, operative age and surgical technique were the contributing factors influencing VPC rate after primary palatal repair of cleft palate patients. PMID:22279464

  19. [Investigation of children with congenital cleft lip and palate by Eysenck personality questionnaire(Junior)

    PubMed

    Zhang, H Z; Hu, J F

    1998-12-01

    OBJECTIVE: To approach the personality of the children suffering from congenital cleft lip and palate. METHODS: The subject were 50 children (aged 7 to 17) with congenital cleft lip and palate,and 50 normal children as control.Both groups were investigated by Eysenck personality questionnaire EPQ(Junior). RESULTS: According to the general quantitative table of EPQ(Junior),the abnormal cases in cleft group were significantly more than those in control(P<0.005),and also were the abnormal cases in the single quantitative or in the multiple quantitative tables of EPQ(Junior)(P<0.005) respectively. CONCLUSION: The poor personality in children with cleft lip and palate is correlated to the cleft condition.Therefore it is necessary to pay attention to the prevention of poor personality while the cleft lip and palate is treated.

  20. p63 and IRF6: brothers in arms against cleft palate.

    PubMed

    Gritli-Linde, Amel

    2010-05-01

    Cleft lip and cleft palate, which can also occur together as cleft lip and palate, are frequent and debilitating congenital malformations, with complex geneses that have both genetic and environmental factors implicated. Mutations in the genes encoding the p53 homolog p63 and interferon regulatory factor 6 (IRF6) are major causes of cleft lip and cleft palate, but the molecular and cellular mechanisms underlying this have not been clear. However, in this issue of the JCI, Thomason et al. and Moretti et al. independently show that p63 and IRF6 operate within a regulatory loop to coordinate epithelial proliferation and differentiation during normal palate development. Disruption of this loop as a result of mutations in p63 or IRF6 causes congenital clefting.

  1. Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate.

    PubMed

    Dentino, K M; Valstar, A; Padwa, B L

    2016-06-01

    The goal of this study was to describe the clinical characteristics and treatment outcomes of patients with hemifacial microsomia (HFM) and cleft lip/palate (CL/P), and to compare them to a historic cohort of patients with non-syndromic CL/P treated at the same centre. A retrospective review of patients with HFM and CL/P was performed; the main outcome measures assessed were cleft type/side, surgical outcome, midfacial retrusion, and speech. Twenty-six patients (13 male, 13 female; mean age 22.7±14.9, range 1-52 years) with cleft lip with/without cleft palate (CL±P) were identified: three with cleft lip (12%), two with cleft lip and alveolus and an intact secondary palate (8%), and 21 with cleft lip and palate (CLP) (81%; 15 unilateral and six bilateral). Four patients (19%) had a palatal fistula after palatoplasty. Twelve of 22 patients aged >5 years (55%) had midfacial retrusion and two (9%) required a pharyngeal flap for velopharyngeal insufficiency (VPI). Fisher's exact test demonstrated a higher frequency of complete labial clefting (P=0.004), CLP (P=0.009), midfacial retrusion (P=0.0009), and postoperative palatal fistula (P=0.03) in HFM compared to non-syndromic CL±P. There was no difference in VPI prevalence. This study revealed that patients with HFM and CL±P have more severe forms of orofacial clefting than patients with non-syndromic CL±P. Patients with HFM and CL±P have more severe midfacial retrusion and a higher palatal fistula rate compared to patients with non-syndromic CL±P.

  2. Comprehensive orthodontic treatment of adult patient with cleft lip and palate.

    PubMed

    Leiva Villagra, Noemí; Muñoz Domon, Miguel; Véliz Méndez, Sebastian

    2014-01-01

    The aim of the paper is to present full orthodontic treatment of an operated cleft lip adult patient. Case Report. An 18-year-old patient consulted for severe crowded teeth. He comes from a poor family. At that time he already had four operations (velum, palate, lip, and myringotomy). Treatment included maxillary expansion, tooth extraction, and fixed orthodontic, as well as kinesiology and speech therapy treatment. A multidisciplinary approach allowed us to achieve successfully an excellent result for this patient and gave him a harmonic smile and an optimal function without orthognathic surgery. Two years after treatment, occlusion remains stable.

  3. Comprehensive Orthodontic Treatment of Adult Patient with Cleft Lip and Palate

    PubMed Central

    Leiva Villagra, Noemí; Muñoz Domon, Miguel; Véliz Méndez, Sebastian

    2014-01-01

    The aim of the paper is to present full orthodontic treatment of an operated cleft lip adult patient. Case Report. An 18-year-old patient consulted for severe crowded teeth. He comes from a poor family. At that time he already had four operations (velum, palate, lip, and myringotomy). Treatment included maxillary expansion, tooth extraction, and fixed orthodontic, as well as kinesiology and speech therapy treatment. A multidisciplinary approach allowed us to achieve successfully an excellent result for this patient and gave him a harmonic smile and an optimal function without orthognathic surgery. Two years after treatment, occlusion remains stable. PMID:25544903

  4. Tissue engineering in cleft palate and other congenital malformations.

    PubMed

    Panetta, Nicholas J; Gupta, Deepak M; Slater, Bethany J; Kwan, Matthew D; Liu, Karen J; Longaker, Michael T

    2008-05-01

    Contributions from multidisciplinary investigations have focused attention on the potential of tissue engineering to yield novel therapeutics. Congenital malformations, including cleft palate, craniosynostosis, and craniofacial skeletal hypoplasias represent excellent targets for the implementation of tissue engineering applications secondary to the technically challenging nature and inherent inadequacies of current reconstructive interventions. Apropos to the search for answers to these clinical conundrums, studies have focused on elucidating the molecular signals driving the biologic activity of the aforementioned maladies. These investigations have highlighted multiple signaling pathways, including Wnt, fibroblast growth factor, transforming growth factor-beta, and bone morphogenetic proteins, that have been found to play critical roles in guided tissue development. Furthermore, a comprehensive knowledge of these pathways will be of utmost importance to the optimization of future cell-based tissue engineering strategies. The scope of this review encompasses a discussion of the molecular biology involved in the development of cleft palate and craniosynostosis. In addition, we include a discussion of craniofacial distraction osteogenesis and how its applied forces influence cell signaling to guide endogenous bone regeneration. Finally, this review discusses the future role of cell-based tissue engineering in the treatment of congenital malformations.

  5. Frontonasal and fibrous dysplasia in a patient with unilateral cleft lip and palate.

    PubMed

    Weathers, William M; Wolfswinkel, Erik M; Albright, Steven B; Hollier, Larry H; Buchanan, Edward P

    2013-07-01

    Frontonasal dysplasia is a rare entity. It has characteristic physical deformities: hypertelorism, broad nasal root, median facial cleft of the upper lip or palate, clefting of the nasal alae, poorly formed nasal tip, cranium bifidum occultum, and a widow's peak hairline. Fibrous dysplasia is a benign bone tumor in which normal bone is replaced by fibrous, poorly formed osseus tissues. We present a patient with frontonasal dysplasia who desired correction of her hypertelorism. Incidentally, fibrous dysplasia was found in her left orbit complicating surgical correction. In addition, the patient has velopharyngeal insufficiency and a class III malocclusion. The interplay of all these craniofacial defects makes the sequencing and timing of surgery important in this unique patient.

  6. Maiden morsel - feeding in cleft lip and palate infants

    PubMed Central

    Devi, E. Sree; Sai Sankar, A. J.; Manoj Kumar, M. G.; Sujatha, B.

    2012-01-01

    Cleft lip and cleft palate are the most common craniofacial anomalies that have an incidence of 0.28 to 3.74 per 1000 live births globally. Due to the great advancements in the field of medical science, these anomalies can today be corrected. However, it cannot be ignored that the parents of these patients may face psychological stress due to the cleft defects in the baby. Also, these conditions may cause financial difficulties to the parents and cause anxiety to the mother about the proper feeding of their infant. Feeding problems can range from excessive air intake to failure to thrive. As the management of such cases is lengthy and includes a multi-disciplinary team approach, it is the role of the Pediatrician/Pedodontist to educate the mother about the proper feeding techniques. In this article, we have reviewed and highlighted the various traditional and advanced devices and techniques which help in the successful management of these individuals. PMID:24478964

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

    PubMed Central

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

    2012-01-01

    ABSTRACT 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. PMID:25206156

  8. 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

  9. 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.

  10. Un Futuro Prometedor para su Nino con Labio Hendido y Paladar Hendido. Edicion Refundida (Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition).

    ERIC Educational Resources Information Center

    McDonald, Eugene T.; Berlin, Asa J.

    The booklet, written in Spanish, is intended to help parents of babies with cleft lip and/or cleft palate. Topics covered include the sequence of prenatal development and the effects of birth defects, common misconceptions about what causes the conditions, possible hereditary and environmental causes, and what it means to have a cleft palate or a…

  11. The Role of the Velopharyngeal Sphincter in the Speech of Patients with Cleft Palate or Cleft Lip and Palate Using Perceptual Methods

    PubMed Central

    Georgievska-Jancheska, Tatjana; Gjorgova, Juliana; Popovska, Mirjana

    2016-01-01

    BACKGROUND: The velopharyngeal sphincter (VPS) plays the main role in speech formation. The cleft palate, due to the damage of the soft palate, leads to dysfunction of the velopharyngeal sphincter thus causing speech disorder. AIM: To establish a link between the nasal air escape and the perceptual symptoms in the speech of patients with cleft palate or cleft lip and palate using auditory-visual perceptual procedures for determining the influence the velopharyngeal dysfunction has on speech. MATERIAL AND METHODS: Twenty patients with speech disorders, out of which 10 have cleft palate or cleft lip and palate (experimental group), participated in the perceptual assessment by means of Czermak mirror fogging test for assessing the nasal air escape and Pittsburgh Weighted Speech Scale (PWSS) for assessing the probable nature of the velopharyngeal sphincter. RESULTS: The respondents with a considerable nasal air escape have a higher velopharyngeal inability, that is, probably incompetent nature of the velopharyngeal sphincter. There is a strong correlation between the nasal air escape and the probable nature of the velopharyngeal sphincter (the coefficient of linear correlation r = 0.9756). The calculated p-value is p = 0.000002. CONCLUSION: The perceptual speech symptoms and the nasal air escape provide unique insight into the state and role the velopharyngeal sphincter has in speech. PMID:28028412

  12. Prevalence, pattern and perceptions of cleft lip and cleft palate among children born in two hospitals in Kisoro District, Uganda

    PubMed Central

    2014-01-01

    Background Cleft lip with or without cleft palate is one of the most common congenital anomalies that affect the oro-facial region. The aim of the study was to determine the period prevalence, pattern and perceptions of cleft lip and cleft palate in children born between 2005 and 2010 in two hospitals in Kisoro District, Uganda. Methods The study involved a retrospective review of medical records of mothers who delivered live babies between January 2005 and December 2010 in Kisoro Hospital and St. Francis Hospital, Mutolere in Kisoro District. Key informant interviews of mothers (n = 20) of the children with cleft lip and/or clip palate and selected medical staff (n = 24) of the two hospitals were carried out. The data were analysed using descriptive statistics. Results Over the 6 year period, 25,985 mothers delivered live babies in Kisoro Hospital (n = 13,199) and St. Francis Hospital, Mutolere (n = 12,786) with 20 babies having oro-facial clefts. The overall period prevalence of the clefts was 0.77/1,000 live births. Sixty percent (n = 12) of children had combined cleft lip and palate and the same proportion had clefts on the left side of the face. More boys were affected than girls: 13 versus 7. About 45% of mothers were hurt on realizing that they had delivered a child with an oro-facial cleft. Forty percent of mothers indicated that a child with oro-facial cleft was regarded as an outcast. About 91.7% (n = 22) of the medical staff reported that these children were not accepted in their communities. Surgical intervention and psychosocial support were the management modalities advocated for by most respondents. Conclusion/recommendations The period prevalence of combined cleft lip and palate in two hospitals in Kisoro District was comparable to some findings elsewhere. Cleft lip and cleft palate are a medical and psychosocial problem in Kisoro District that calls for sensitization and counseling of the families and communities of the affected children

  13. A glucocorticoid receptor in fetal mouse: its relationship to cleft palate formation.

    PubMed

    Hackney, J F

    1980-02-01

    Fetal mouse tissue was investigated for a glucocorticoid binding receptor which might be responsible for cleft palate formation. Fetal mouse heads contain a soluble component which binds the glucocorticoid triamcinolone acetonide in vitro with high affinity. This binding component is present in small finite amounts. Other glucocorticoids compete with triamcinolone acetonide for the binding site in a manner consistent with their potency ranking as cleft palate teratogens. Several mineralocorticoids and progestins also compete when administered in vitro but not when administered in vivo. Triamcinolone acetonide binding was determined in three mouse strains, A/J, C3H, and C57BL, which are listed in decreasing order of cleft palate susceptibility to cortisone. No positive correlation was found between cortisone cleft palate susceptibility and either triamcinolone acetonide binding affinity or binding amount in fetuses from these strains. Cleft palate dose response curves for triamcinolone acetonide were determined in these strains, but they were not parallel to each other as they were for cortisone. This suggests that triamcinolone acetonide may cause cleft palate by different mechanisms in these strains. Thus, fetal mouse tissue contains an apparent glucocorticoid receptors, but its relationship to cleft palate formation in mice is not clear.

  14. Management of feeding Problem in a Patient with Cleft Lip/Palate

    PubMed Central

    Goswami, Mridula; Bhushan, Urvashi

    2016-01-01

    ABSTRACT In a child with cleft lip and/or palate, nutrition is the first priority as for any other child. These children have specific physical limitations. To fulfill their nutritional requirement, these children need modifications in order to thrive and grow. Failure to adjust to these needs could place the children into a potential life-threatening situation. One of the immediate problems to be addressed in a newborn with cleft lip/palate is difficulty in feeding. Nasal regurgitation and choking are common because of inability of the palate to separate the nasal and oral cavities. The case presented here discusses the management of feeding problem in the infant with cleft lip/palate. How to cite this article: Goswami M, Jangra B, Bhushan U. Management of feeding Problem in a Patient with Cleft Lip/ Palate. Int J Clin Pediatr Dent 2016;9(2):143-145. PMID:27365936

  15. Repair of bilateral clefts of lip, alveolus and palate Part 1: A refined method for the lip-adhesion in bilateral cleft lip and palate patients.

    PubMed

    Bitter, Klaus

    2001-02-01

    The protruding premaxilla represents the most severe problem in the surgical closure of a bilateral cleft lip, alveolus and palate (BCLP). In principle there are two methods to overcome this obstacle: (1) preliminary lip adhesion and (2) presurgical repositioning with intraoral devices. According to the various degrees of premaxillary protrusion, sometimes adhesion alone is sufficient, if the surgical technique is unlikely to break down. In this paper a refined adhesion method is presented, withstanding traction to the wound margins and concomitantly enables lip and nose repairs in a single second operation. For patients with severe premaxillary protrusion, presurgical use of a Latham appliance achieves conditions for safe lip adhesion as above. Both treatment methods are outlined. Copyright 2001 European Association for Cranio-Maxillofacial Surgery.

  16. Single-layer Closure with Tongue Flap for Palatal Fistula in Cleft Palate Patients

    PubMed Central

    Alsalman, Abdulla K.; Alwabari, Mufeed Saeed; Almugarrab, Fatimah Jawad

    2016-01-01

    Background: Tongue flap is a good option to close a complicated palatal fistula in cleft patients. Most surgeons advocate a double-layer closure to decrease the recurrence rates. In this study, we have reported our experience with a modified single-layer closure with tongue flap in cleft patients. Method: All cases done by a single surgeon using this modified technique in a period of 10 years were retrospectively reviewed. A thorough description of this technique is also provided in the study. Results: Only 5 cases were operated on using this technique. The success rate of all these cases was 100%, with no recurrence of fistula and few complications. Conclusions: This technique provides a way to avoid nasal layer closure in cases where nasal layer is difficult or impossible to close. It also limits the need for a second flap for nasal layer closure. PMID:27622120

  17. Evaluating aesthetics of the nasolabial region in children with cleft lip and palate: professional analysis and patient satisfaction

    PubMed Central

    Paiva, Tatiana Saito; Andre, Marcia

    2012-01-01

    Cleft lip and palate is one of the most common deformities of the craniofacial region, and treatment of this deformity is essential for social reintegration. One of the major goals of surgery and treatment of craniofacial deformities is to improve the aesthetic appearance of the face, and thereby improve the patient’s social acceptability. Here, we present a critical review of the criteria for aesthetic evaluation of the nasolabial region in cleft patients by assessing publications with the highest level of evidence, including professional evaluation, and patient satisfaction. The findings indicate treatment of this condition represents a major challenge for multidisciplinary team care. PMID:23152672

  18. 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.

  19. 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)

  20. Impressions in cleft lip and palate--a novel two stage technique.

    PubMed

    Pani, Sharat Chandra; Hedge, Amitha M

    2008-01-01

    Though the field of presurgical orthopedics for the management of children with cleft Lip and Palate (CLAP) has made great advances over the past few decades, little is found in literature regarding the imressions required to fabricate these appliances. The purpose of this paper is to describe a novel two stage technique utilizing greenstick compound and addition silicone impression material to provide a safe, economical and accurate method for recording impressions in children with cleft lip and palate.

  1. [Principles of treatment of total unilateral cleft lip and palate. Suggested protocol].

    PubMed

    Simon, E; Duroure, F; Coing, C; Sellal, S; Chassagne, J F; Stricker, M

    2004-09-01

    Complete uni-lateral cleft palates resulting from failed union between internal and external nasal buds cause an imbalance of both superficial and deep nasal structures. After summarizing the principles that should guide the care of these anomalies, the authors present their therapeutic procedure, in which orthopaedic and surgical treatments are intimately associated. They conclude their presentation by emphasizing the difficulty of predicting the definitive result because of the extreme diversity of the sequellae that always accompany the treatment of cleft palates.

  2. Speech therapy for errors secondary to cleft palate and velopharyngeal dysfunction.

    PubMed

    Kummer, Ann W

    2011-05-01

    Individuals with a history of cleft lip/palate or velopharyngeal dysfunction may demonstrate any combination of speech sound errors, hypernasality, and nasal emission. Speech sound distortion can also occur due to other structural anomalies, including malocclusion. Whenever there are structural anomalies, speech can be affected by obligatory distortions or compensatory errors. Obligatory distortions (including hypernasality due to velopharyngeal insufficiency) are caused by abnormal structure and not by abnormal function. Therefore, surgery or other forms of physical management are needed for correction. In contrast, speech therapy is indicated for compensatory articulation productions where articulation placement is changed in response to the abnormal structure. Speech therapy is much more effective if it is done after normalization of the structure. When speech therapy is appropriate, the techniques involve methods to change articulation placement using standard articulation therapy principles. Oral-motor exercises, including the use of blowing and sucking, are never indicated to improve velopharyngeal function. The purpose of this article is to provide information regarding when speech therapy is appropriate for individuals with a history of cleft palate or other structural anomalies and when physical management is needed. In addition, some specific therapy techniques are offered for the elimination of common compensatory articulation productions.

  3. Sphincterplasty for Velopharyngeal Insufficiency in the Child Without a Cleft-Palate: Etiologies and Speech Outcomes.

    PubMed

    Golinko, Michael S; Mason, Kazlin; Nett, Katie; Riski, John E; Williams, Joseph K

    2015-10-01

    The aim of this study is to report on speech outcomes following surgery for velopharyngeal insufficiency (VPI) on a broad spectrum of patients without a cleft palate. Inclusion criteria included patients without a cleft palate operated on by a single surgeon (JKW) over a 10-year period and postoperative speech evaluation within 1 year. All patients underwent a sphincter pharyngoplasty. The main outcome measures were perceptual speech assessment using a 6-point scale (1 = none or normal, 6 = severe); velopharyngeal function (VPF) (1 = adequate, 2 = marginal, 3 =  dequate); and quantitative nasalance score. Forty children (mean age 7.5 y) were included. Eight unique conditions were identified; the most common was 22q deletion syndromes (27.5%). All patients had a deep nasopharynx, mean nasopharyngeal depth >0.67. Two novel cases are presented in each child with mosaic Trisomy 14 and ring chromosome 18 abnormality. Of all patients, 87.5% improved their postoperative hypernasality score. Preoperatively, all patients had either marginal or inadequate VPF (2 or 3). Postoperatively, 90% of patients (n = 36) achieved adequate velar function, the remainder did not improve at the first postoperative evaluation. Intelligibility and audible nasal emissions improved in between 57% and 65% of patients. Articulation proficiency was the only perceptual rating not to improve initially, but then did so on the most recent postoperative speech evaluation. This study demonstrates successful speech outcomes in a diverse group of patients. It also increases awareness of noncleft VPI amenable to surgical correction.

  4. Citation Characteristics of Research Articles under the Center of Cleft Lip-Cleft Palate and Craniofacial Deformities, Khon Kaen University.

    PubMed

    Thanapaisal, Soodjai; Thanapaisal, Chaiwit; Thanapaisal, Sukhumal

    2015-08-01

    Center of Cleft Lip-Cleft Palate and Craniofacial Deformities, Khon Kaen University, has cooperated with the Medical Association of Thailand in publishing the special five issues of JMT (Journal of the Medical Association of Thailand) during the years 2010-2014 in order to promote research activities and working network of related fields in cleft lip-cleft palate and craniofacial deformities. This study aimed to examine the features of 106 research articles in terms of authors and disciplines, and analyze the citations considering sources, country and years after publication. The scope of study also included citations in the form of journal, which was presented as journal ranking compared with impact factors and Bradford's Law on journal citation. The results of study will be useful in developing multidisciplinary research activities of the center and especially assist in the acquisition of academic journals for essential sources of reference.

  5. 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.

  6. Postoperative evaluation of the folded pharyngeal flap operation for cleft palate patients with velopharyngeal insufficiency

    PubMed Central

    Yoshimasu, Hidemi; Sato, Yutaka; Mishimagi, Takashi; Negishi, Akihide

    2015-01-01

    Background: Velopharyngeal function is very important for patients with cleft palate to acquire good speech. For patients with velopharyngeal insufficiency, prosthetic speech appliances and speech therapy are applied first, and then pharyngeal flap surgery to improve velopharyngeal function is performed in our hospital. The folded pharyngeal flap operation was first reported by Isshiki and Morimoto in 1975. We usually use a modification of the original method. Purpose: The purpose of this research was to introduce our method of the folded pharyngeal flap operation and report the results. Materials and Methods: The folded pharyngeal flap operation was performed for 110 patients with velopharyngeal insufficiency from 1982 to 2010. Of these, the 97 whose postoperative speech function was evaluated are reported. The cases included 61 males and 36 females, ranging in age from 7 to 50 years. The time from surgery to speech assessment ranged from 5 months to 6 years. In order to evaluate preoperative velopharyngeal function, assessment of speech by a trained speech pathologist, nasopharyngoscopy, and cephalometric radiography with contrast media were performed before surgery, and then the appropriate surgery was selected and performed. Postoperative velopharyngeal function was assessed by a trained speech pathologist. Results: Of the 97 patients who underwent the folded pharyngeal flap operation, 85 (87.6%) showed velopharyngeal competence, 8 (8.2%) showed marginal velopharyngeal incompetence, and only 2 (2.1%) showed velopharyngeal incompetence; in 2 cases (2.1%), hyponasality was present. Approximately 95% of patients showed improved velopharyngeal function. Conclusions: The folded pharyngeal flap operation based on appropriate preoperative assessment has been shown to be an effective method for the treatment of cleft palate patients with velopharyngeal insufficiency. PMID:26389036

  7. Verbal Competence in Narrative Retelling in 5-Year-Olds with Unilateral Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Klintö, Kristina; Salameh, Eva-Kristina; Lohmander, Anette

    2015-01-01

    Background: Research regarding expressive language performance in children born with cleft palate is sparse. The relationship between articulation/phonology and expressive language skills also needs to be further explored. Aims: To investigate verbal competence in narrative retelling in 5-year-old children born with unilateral cleft lip and palate…

  8. Candidate pathway based analysis for cleft lip with or without cleft palate.

    PubMed

    Zhang, Tian-Xiao; Beaty, Terri H; Ruczinski, Ingo

    2012-01-06

    The objective of this research was to identify potential biological pathways associated with non-syndromic cleft lip with or without cleft palate (NSCL/P), and to explore the potential biological mechanisms underlying these associated pathways on risk of NSCL/P. This project was based on the dataset of a previously published genome-wide association (GWA) study on NSCL/P (Beaty et al. 2010). Case-parent trios used here originated from an international consortium (The Gene, Environment Association Studies consortium, GENEVA) formed in 2007. A total of 5,742 individuals from 1,908 CL/P case-parents trios (1,591 complete trios and 317 incomplete trios where one parent was missing) were collected and genotyped using the Illumina Human610-Quad array. Candidate pathways were selected using a list of 356 genes that may be related to oral clefts. In total, 42 candidate pathways, which included 1,564 genes and 40,208 SNPs were tested. Using a pathway-based analysis approach proposed by Wang et al (2007), we conducted a permutation-based test to assess the statistical significance of the nominal p-values of 42 candidate pathways. The analysis revealed several pathways yielding nominally significant p-values. However, controlling for the family wise error rate, none of these pathways could retain statistical significance. Nominal p-values of these pathways were concentrated at the lower tail of the distribution, with more than expected low p-values. A permutation based test for examining this type of distribution pattern yielded an overall p-value of 0.029. Thus, while this pathway-based analysis did not yield a clear significant result for any particular pathway, we conclude that one or more of the genes and pathways considered here likely do play a role in oral clefting.

  9. [Changes in valvular movements of the velopharyngeal sphincter after speech therapy in children with cleft palate. A videonasopharyngoscopic and videofluoroscopic study of multiple incidence].

    PubMed

    Ysunza-Rivera, A; Pamplona-Ferreira, M C; Toledo-Cortina, E

    1991-07-01

    Thirty-one patients with surgically repaired cleft palate who had velopharyngeal deficiency and compensatory articulatory defects in comparison to hyperrhinophony were studied. All patients were submitted to a videonasopharyngescopic and videofluoroscopic study of multiple incidence before and after speech therapy in order to correct the compensatory articulation. The movement proportions of the pharyngeal velum structures increased significantly after the correction of the compensatory articulation. Even moreso, the size of the pharyngeal velum defect decreased significantly. The results of this study support the postulate which recommends that the articulatory abnormalities associated to hyperrhinophony should be corrected before surgery for pharyngeal velum insufficiency secondary to the closure of the cleft palate.

  10. 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

  11. Clear double layer Bioplast feeding plate for neonates with cleft palate

    PubMed Central

    Yilmaz, R. Burcu Nur; Mutlu, Meltem; Germec-Cakan, Derya

    2015-01-01

    An infant with cleft palate was referred to cleft clinic of the Orthodontic Department. The mother was concerned to feed the child because of the escape of milk from the nose. Intraoral examination revealed a large palatal cleft extending from hard to soft palate involving uvula. The impression was taken and dental cast obtained. A 3 mm soft and afterward a 1 mm hard Bioplast plate was pressed using Biostar device (Scheu-Dental Gmbh, Iserlohn, Germany) on the model. Finally, a hole was prepared on the anterior part to put a thread through it. The infant tolerated the plate immediately and encounters no difficulties during feeding. The inlaying soft Bioplast plates eliminate the risk of tissue irritation, whereas the covering hard Bioplast plate supplies endurance. The fabrication of the clear Bioplast feeding plate is easy and less time-consuming compared with acrylic plates and may be recommended in crowded and overloaded cleft centers. PMID:26929704

  12. Clear double layer Bioplast feeding plate for neonates with cleft palate.

    PubMed

    Yilmaz, R Burcu Nur; Mutlu, Meltem; Germec-Cakan, Derya

    2015-01-01

    An infant with cleft palate was referred to cleft clinic of the Orthodontic Department. The mother was concerned to feed the child because of the escape of milk from the nose. Intraoral examination revealed a large palatal cleft extending from hard to soft palate involving uvula. The impression was taken and dental cast obtained. A 3 mm soft and afterward a 1 mm hard Bioplast plate was pressed using Biostar device (Scheu-Dental Gmbh, Iserlohn, Germany) on the model. Finally, a hole was prepared on the anterior part to put a thread through it. The infant tolerated the plate immediately and encounters no difficulties during feeding. The inlaying soft Bioplast plates eliminate the risk of tissue irritation, whereas the covering hard Bioplast plate supplies endurance. The fabrication of the clear Bioplast feeding plate is easy and less time-consuming compared with acrylic plates and may be recommended in crowded and overloaded cleft centers.

  13. Prevalence of Oral Habits in Children with Cleft Lip and Palate

    PubMed Central

    Barsi, Paula Caroline; Ribeiro da Silva, Thaieny; Costa, Beatriz; da Silva Dalben, Gisele

    2013-01-01

    This study investigated the prevalence of oral habits in children with clefts aged three to six years, compared to a control group of children without clefts in the same age range, and compared the oral habits between children with clefts with and without palatal fistulae. The sample was composed of 110 children aged 3 to 6 years with complete unilateral cleft lip and palate and 110 children without alterations. The prevalence of oral habits and the correlation between habits and presence of fistulae (for children with clefts) were analyzed by questionnaires applied to the children caretakers. The cleft influenced the prevalence of oral habits, with lower prevalence of pacifier sucking for children with cleft lip and palate and higher prevalence for all other habits, with significant association (P < 0.05). There was no significant association between oral habits and presence of fistulae (P > 0.05). The lower prevalence of pacifier sucking and higher prevalence of other oral habits agreed with the postoperative counseling to remove the pacifier sucking habit when the child is submitted to palatoplasty, possibly representing a substitution of habits. There was no causal relationship between habits and presence of palatal fistulae. PMID:23533744

  14. Effect of cleft palate repair on the susceptibility to contraction-induced injury of single permeabilized muscle fibers from congenitally-clefted goat palates.

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Despite cleft palate repair, velopharyngeal competence is not achieved in ~ 15% of patients, often necessitating secondary surgical correction. Velopharyngeal competence postrepair may require the conversion of levator veli palatini muscle fibers from injury-susceptible type 2 fibers to injury-resi...

  15. Occlusal Disorders among Patients with Total Clefts of Lip, Alveolar Bone, and Palate

    PubMed Central

    Paradowska-Stolarz, Anna

    2014-01-01

    Clefts are common birth defects. They are accompanied by various malformations, including disturbances in facial look as well as skeletal disorders that include malocclusions, most frequently crossbites and class III anomalies. The aim of the study was to present the commonest malocclusions in patients with total cleft of the lip, alveolar bone and palate (n = 154) and compare the results to the healthy on-cleft patients (n = 151). Normal occlusion, characteristic for I angle class, was observed in 50% of the control group and 30% of the examined. In the examined patients with clefts, most frequently crossbite and open bite on the cleft side was observed. In patients with clefts, only 2 out of 154 patients presented isolated dental anomalies. In healthy individuals the commonest occlusal disorder was distal occlusion and dental anomalies. The commonest malocclusions among patients with clefts are crossbites and class III malocclusions. PMID:24982898

  16. Cleft lip and Palate: A 30-year Epidemiologic Study in North-East of Iran

    PubMed Central

    Kianifar, Hamidreza; Hasanzadeh, Nadia; Jahanbin, Arezoo; Ezzati, Atefeh; Kianifar, Homa

    2015-01-01

    Introduction: Cleft lip and palate are among the most common congenital anomalies worldwide. This study was conducted in order to explore the incidence and related factors of cleft lip and/or palate (CL/P) among live births in Mashhad, North-Eastern Iran. Materials and Methods: In this cross-sectional study, records of 28,519 infants born between March 1982 and March 2011 at three major hospitals in Mashhad were screened for oral clefts. Clinical and demographic factors relating to diagnosed cases, including birth date, gender, birth weight, maternal age, number of pregnancies, type and side of cleft and presence of other congenital anomalies were recorded for analysis. Results: The overall incidence of CL/P was 1.9 per 1,000 live births. Cleft lip associated with cleft palate (CLP) was the most prevalent type of cleft (50%), followed by isolated cleft lip (35.2%) and isolated cleft palate (14.8%). A total of 92.6% of oral clefts were bilateral and 5.5% were located on the right side. In addition, clefts were found to be more common in male than female births (male/female ratio=2.3). The rate of associated congenital anomalies in CL/P newborns was 37%. No significant differences were observed in the incidence of oral clefts across three decades of study; except for CLP which was significantly more prevalent between 2002–2011 (P=0.027). There were no significant differences with regard to season of birth, associated anomalies or maternal age of affected newborns in the three time periods of the study. Furthermore, maternal age and number of pregnancies were not significantly different among the three types of cleft (P=0.43 and P=0.91, respectively). Although the mean birth weight of patients affected with isolated cleft palate was considerably lower than that of the other two types of cleft, the difference was not statistically significant (P=0.05). Conclusion: This study indicates a frequency of CL/P close to the findings in East Asian countries and higher than

  17. Adult patients with treated complete cleft lip and palate. Methodological and clinical studies.

    PubMed

    Marcusson, A

    2001-01-01

    The purpose of the present thesis was to investigate the quality of life, satisfaction with treatment, prevalence of temporomandibular disorders, psychosocial distress, and occlusal stability in a treated group of adults with complete cleft lip and palate (CLP). Sixty-eight adults (44 men and 24 women) with a mean age of 24.2 years (range 19.5-29.2) with treated CLP were compared with a gender- and age-matched group with no clefts. The CLP subjects were born between 1968 and 1977 and had undergone standardised plastic surgery at the Department of Plastic Surgery, University Hospital, Linköping, Sweden. Logopaedic, phoniatric, otological, and orthodontic examinations and treatment had been provided locally, supervised by the Cleft Plate Team. The subjects answered a multidimensional, self-report, standardised questionnaire regarding psychological and somatic conditions. The subjects underwent a clinical TMD examination and an evaluation of the occlusion. The reliability of the multidimensional questionnaire was analysed for the CLP group by a test-retest study within a 2-3 week interval and most questions showed an overall good reliability. A panel of professionals judged the outcome of the surgical treatment on colour slides of the CLP subjects. The dental plaster casts of 39 subjects born with complete unilateral cleft lip and palate (UCLP) were analysed (mean age 24.7 years, range 20.2-29.3) and compared with the dental plaster casts taken at mean age of 19.1 years (range 16.0-20.6). The overall level of quality of life was rather high in both groups. The CLP group rated some detached aspects, such as life meaning, family life, and private economy, significantly lower than did the group without clefts. Overall aspects such as well-being and social life were affected by having a treated cleft but not the more practical and tangible aspects of their daily living. There was an overall high level of satisfaction with all the different part of the body in both groups

  18. Social motivation in individuals with isolated cleft lip and palate.

    PubMed

    van der Plas, Ellen; Koscik, Timothy R; Conrad, Amy L; Moser, David J; Nopoulos, Peg

    2013-01-01

    Social isolation is common among individuals with isolated cleft lip and palate (ICLP), but the available data on why this may be are mixed. We present a novel theory relating to reduced social motivation in ICLP, called the social abulia hypothesis. Based on this hypothesis, we predicted that reduced social motivation would lead to reduced responsiveness to negative social feedback, in terms of both explicit responses and noncontrolled, psychophysiological responses. Twenty males with ICLP and 20 normal comparison males between 13 and 25 years old participated in the study. Social motivation was examined by measuring participants' response to negative social feedback (social exclusion). Additionally, psychophysiological reactivity to positive and negative social stimuli was measured. In order to rule out other potential contributors to social isolation, we tested basic social perception, emotion recognition, and social anxiety. In line with the social abulia hypothesis, we show that negative social feedback had less of an effect on males with ICLP than on healthy male peers, which was evident in explicit responses and noncontrolled, psychophysiological responses to negative social feedback. Our results could not be attributed to problems in social perception, a lack of understanding facial expressions, or increased social anxiety, as groups did not differ on these constructs. This study suggests that current views on social isolation in ICLP may need to be reconsidered to include the possibility that isolation in this population may be the direct result of reduced social motivation.

  19. Development of speech services for people with cleft palate in Thailand: lack of professionals.

    PubMed

    Prathanee, Benjamas

    2012-11-01

    Cleft lip/palate is one of the most common birth defects and has a high incidence in Thailand. Most children with cleft still have social stigma from speech and language defects after surgical treatment. Speech and language therapies are required at an early age and require long-term care until teenager or adult. Unfortunately, there are insufficient speech services for cleft because of a lack of qualified speech and language pathologists in Thailand. Development consisted of two remedy modalities of bottom-up and top-down models, Community-Based Speech Therapy Model for people with Cleft Lip Cleft Palate including networking and standard assessments of both subjective and objective measurements. That might be the best and most suitable way to solve problems of lacking speech services in Thailand or developing countries which have similar contexts.

  20. Changing perspectives in cleft lip and palate: from acrylic to allele.

    PubMed

    Tollefson, Travis T; Senders, Craig W; Sykes, Jonathan M

    2008-01-01

    Cleft lip and palate deformities are the most common congenital abnormalities of the head and neck. Advancements in the various multidisciplinary fields involved in cleft management have substantially improved functional and aesthetic outcomes. The legitimacy of such controversial topics as gingivoperiosteoplasty, primary rhinoplasty, and presurgical nasoalveolar molding is heavily contested. Bone morphogenetic protein and other recombinant growth factors may play important roles in future cleft care. As the candidate alleles that contribute to cleft lip and palate are further elucidated, the complex interplay of environmental influence and genetic predisposition is emphasized. Translational research from fields such as fetal wound healing, tissue engineering, and gene therapy may have clinical applications as cleft care continues to evolve.

  1. Conventional prosthodontic management of partial edentulism with a resilient attachment-retained overdenture in a patient with a cleft lip and palate: a clinical report.

    PubMed

    Acharya, Varun; Brecht, Lawrence E

    2014-08-01

    Recent advances in surgery and orthodontics have resulted in improvements in the management of patients with a cleft lip or palate. Early surgical intervention and bone-grafting procedures have frequently been used to ensure closure of the cleft and continuity of the alveolar bone. However, a need for the prosthodontic management of patients with a cleft palate still exists. Most frequently, the indication is to restore the edentulous spaces located anteriorly in the vicinity of the residual cleft defect. In addition to improving the esthetic outcome, prosthodontic management also is required to restore function, especially occlusion and speech. This clinical report illustrates the management of an adult patient with a unilateral cleft of the lip and palate who required prosthodontic rehabilitation after surgery. The patient had previously undergone multiple surgeries and did not want to consider implant therapy as a treatment option. Thus, the patient was managed with fixed and removable prosthodontics with a maxillary overdenture prosthesis retained by microextracoronal resilient attachments, which were laser welded onto crowns on abutment teeth to obtain a functionally and esthetically acceptable result.

  2. Prevalence of cleft lip and/or palate in children from Lodz between years 1981-2010.

    PubMed

    Antoszewski, Bogusław; Fijałkowska, Marta

    2016-03-01

    Congenital malformations constitute a serious problem of both medical and social nature. Cleft lip and/or palate represent the most common congenital anomaly of the face that is why it is essential to know the real frequency of the described phenomenon. The aim of this paper is to determine the frequency of cleft lip and/or palate and the types of malformations that occurred in Lodz city between the years 1981-2010. Our clinic has been carrying on the studies concerning the incidence of cleft lip and/or palate since 1981. The Polish Registry of Congenital Malformations has been operating in Poland since 1 April 1997. The team has managed to obtain data, from the Registry, concerning the total number of all live born infants and the number of children with cleft lip and/or palate, who were born in Lodz, between 1998 and 2010. In years 1981-2010, 319 children, in 210 952 live born infants, were born with cleft lip and/or palate in Lodz. The isolated cleft palate was observed more frequently in girls and the unilateral cleft of lip and palate in boys. In all three decades palate clefts are more common whereas bilateral lip, alveolus and palate clefts are more infrequent. A small tendency to decrease in actual cleft lip and/or palate frequency among children, in the period of 30 years, is observed in Lodz. Over the years it has still been observed that the isolated cleft palate is the most common type of defect.

  3. Comparative study of nasoalveolar molding methods: nasal elevator plus DynaCleft® versus NAM-Grayson in patients with complete unilateral cleft lip and palate.

    PubMed

    Monasterio, Luis; Ford, Alison; Gutiérrez, Carolina; Tastets, María Eugenia; García, Jacqueline

    2013-09-01

    Objective : To compare nasoalveolar molding (NAM) effect employing a nasal elevator plus DynaCleft® and NAM-Grayson system in patients with complete unilateral cleft lip and palate. Method : Prospective study in two groups. Group A included 20 consecutive patients treated with DynaCleft® and a nasal elevator before lip surgery. Group B included 20 patients treated with NAM-Grayson system. Maxillary casts and standard view photographs were done before and after treatment. Columella deviation angle, soft tissue distance of the cleft, intercommisural distance, and nostril height and width were traced and measured on the printed photos; a ratio was obtained and compared before and after treatment. Cleft width, anterior width, and anteroposterior distances were measured on the maxillary cast. Results : Group A began treatment at an average age of 14.3 days and group B at an average age of 16.9 days; no complications were observed. For group A, the initial average alveolar cleft within the cast was 10.7 mm, and after treatment it was 6.6 mm. For group B, pretreatment width was 11.2 mm, and after treatment it was 5.9 mm. No differences were found on the anterior and posterior width, and A-P distance of both groups. The initial mean columellar angle in group A was 38.1°, and after treatment it was 61.5°; for group B the initial mean columellar angle was 33.6°, and after treatment it was 59.5°. Results of Mann-Whitney U and Student's t tests showed no differences (P > .05). Width and height dimensions of the nostril showed minor differences. Conclusions : Both methods significantly reduced the cleft width and improved the nasal asymmetry. Our findings show that both methods produced similar results.

  4. Islandized mucoperiosteal flaps: A versatile technique for closure of a wide palatal cleft

    PubMed Central

    Aboul-Wafa, Ahmed Mabrouk

    2012-01-01

    BACKGROUND: A variety of surgical methods have been described to repair wide cleft palate; they are all challenging to perform and yield consistently good results. The islandized mucoperiosteal flap, the technique described in the present article, is very versatile because it can close palatal defects of any size without undue tension. Moreover, it provides adequate length and mobility of the soft palate with improved speech and feeding functions without fistula formation. METHODS: Between 2005 and 2011, 36 patients with wide cleft palate were operated on using islandized mucoperiosteal flaps. This technique involves dissection of the neurovascular bundle from the mucoperiosteal flaps for approximately 1 cm and dissecting the muscle from the posterior edge of the hard palate with intravelar veloplasty. The flaps subsequently become freely mobile in all directions. It can move medially to close palatal defects of any size without tension. In addition, posterior or backward mobilization lengthens the soft palate and renders it freely mobile. RESULTS: All repairs were successful, with no complications and no patients requiring secondary procedures. All patients regained normal feeding function three weeks postoperatively. All patients showed normal nasal resonance of speech except for two (three and five years of age) who experienced abnormal resonance in the form of open nasality that required regular speech therapy for six months. There was significant improvement and no secondary procedures were required for either. CONCLUSIONS: A technical modification for closure of wide palatal clefts is introduced. The islandized mucoperiosteal flap, which is a very versatile technique, can close cleft palates of any width without tension, lengthens the soft palate and renders it freely mobile for proper speech functions. Using this technique, good speech and feeding function with no complications were achieved. PMID:23997584

  5. Perpendicular serial maxillary distraction osteogenesis in cleft lip and palate patients

    PubMed Central

    Ylikontiola, Leena P.; Sándor, George K.; Harila, Virpi

    2015-01-01

    Background: Cleft lip and palate patients often have a retruded maxilla with a severely narrowed deficient maxillary arch. This report aims to describe the management of severe maxillary retrusion and constriction in cleft lip and palate patients using distraction osteogenesis applied in serial sequence in two directions perpendicular to each other. Materials and Methods: Two adult male cleft lip and palate patients were treated with maxillary distraction osteogenesis in two stages. In the first stage, surgically assisted rapid palatal expansion with a tooth-borne device was performed to significantly expand the maxillary arch in the transverse dimension. After the teeth were orthodontically aligned, the horizontal distraction of the maxilla was made by two internal maxillary distraction devices. Results: In the first patient, the maxilla was initially widened by 11 mm and then distracted forward by 20 mm. Despite the breakage of the shaft of one of the two distractors at the end of distraction, a satisfactory occlusion was found at the time of distractor device removal. The maxillary position has remained stable through 8 years of follow-up. In the second patient, the palate was widened by 14 mm and the maxilla was distracted forward by 22 mm. The maxillary position has remained stable through 3 years of follow-up. Conclusion: Sequential serial distraction of maxilla in two planes perpendicular to each other is a safe and stable approach for the treatment of cleft lip and palate patients with severe transverse and anteroposterior discrepancies. PMID:26981462

  6. Histone acetylation is involved in TCDD-induced cleft palate formation in fetal mice

    PubMed Central

    Yuan, Xingang; Qiu, Lin; Pu, Yalan; Liu, Cuiping; Zhang, Xuan; Wang, Chen; Pu, Wei; Fu, Yuexian

    2016-01-01

    The aim of the present was to evaluate the effects of DNA methylation and histone acetylation on 2,3,7,8-tetrachlo-rodibenzo-p-dioxin (TCDD)-induced cleft palate in fetal mice. Pregnant mice (n=10) were randomly divided into two groups: i) TCDD group, mice were treated with 28 µg/kg TCDD on gestation day (GD) 10 by oral gavage; ii) control group, mice were treated with an equal volume of corn oil. On GD 16.5, the fetal mice were evaluated for the presence of a cleft palate. An additional 36 pregnant mice were divided into the control and TCDD groups, and palate samples were collected on GD 13.5, GD 14.5 and GD 15.5, respectively. Transforming growth factor-β3 (TGF-β3) mRNA expression, TGF-β3 promoter methylation, histone acetyltransferase (HAT) activity and histone H3 (H3) acetylation in the palates were evaluated in the two groups. The incidence of a cleft palate in the TCDD group was 93.55%, and no cases of cleft palate were identified in the control group. On GD 13.5 and GD 14.5, TGF-β3 mRNA expression, HAT activity and acetylated H3 levels were significantly increased in the TCDD group compared with the control. Methylated bands were not observed in the TCDD or control groups. In conclusion, at the critical period of palate fusion (GD 13.5–14.5), TCDD significantly increased TGF-β3 gene expression, HAT activity and H3 acetylation. Therefore, histone acetylation may be involved in TCDD-induced cleft palate formation in fetal mice. PMID:27279340

  7. Cleft lip with or without cleft palate: identification of sporadic cases with a high level of genetic predisposition.

    PubMed Central

    Crawford, F C; Sofaer, J A

    1987-01-01

    Previous studies have suggested that asymmetry for certain bilaterally represented features may be an indicator of genetic predisposition to cleft lip with or without cleft palate and may therefore be of value in the individual assessment of recurrence risk, particularly for sporadic cases. An asymmetry score has been devised that may be of use in identifying those with a high level of genetic predisposition. Stepwise logistic regression selected nine variables that together correctly classified 85% of familial cleft patients and unrelated non-cleft controls. Applying the same regression equation to sporadic cases, 26% fell into the range occupied by the majority of familial patients, suggesting that these had a high level of genetic predisposition. PMID:3572999

  8. Contraction-induced injury to single permeabilized muscle fibers from normal and congenitally-clefted goat palates

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A goat model in which cleft palate is induced by the plant alkaloid, anabasine was used to determine muscle fiber integrity of the levator veli palatine (LVP) muscle. It was determined that muscle fiber type, size, and sensitivity to contraction-induced injury was different between cleft palate ind...

  9. Application of levator veli palatini retropositioning combined with Buccinator myomucosal island flap for congenital cleft palate

    PubMed Central

    Wan, Y. J.; Zhang, H. C.; Zhang, Y.; Cheng, Y. S.; Zhang, Y.; Wang, C.

    2016-01-01

    Congenital cleft palate causes a serious obstacle to children with regard to language and eating function. The aim of the current study was to examine the clinical application of a type of palatoplasty that has a reduced impact on the maxillary growth and good function in velopharyngeal competence. A total of 37 patients with cleft palate were treated with levator veli palatini retropositioning combined with Buccinator myomucosal island flap. The patients were successfully treated in the first phase and were followed up for 1–3 years. Speech intelligibility was satisfactory and no fistula occurred. In conclusion, the results suggested that levator veli palatini retropositioning combined with the Buccinator myomucosal island flap may restore normal anatomic structure and location of the levator veli palatini, obtain good velopharyngeal competence, and decrease the incidence rate thereof. Thus, levator veli palatini retropositioning combined with the Buccinator myomucosal island flap is a functional procedure for cleft palate repair. PMID:27698756

  10. Dental Care for a Child with Cleft Lip and Palate

    MedlinePlus

    ... to replace missing teeth. Oral appliances called “speech bulbs” or “palatal lifts” may help close the nose ... assure the best possible result. When a speech bulb or palatal lift is developed, the prosthodontist usually ...

  11. Nasopharyngeal Development in Patients with Cleft Lip and Palate: A Retrospective Case-Control Study

    PubMed Central

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

    2012-01-01

    Introduction. The aim of this paper was to evaluate cephalometrically the nasopharyngeal development of patients with complete unilateral cleft lip and palate. Influencing factors were evaluated and cleft to noncleft subjects were compared to each other. Material and Methods. The lateral cephalograms of 66 patients with complete cleft lip and palate were measured and compared retrospectively to the cephalograms of 123 healthy probands. Measurements were derived from a standardized analysis of 56 landmarks. Results. We observed significant differences between cleft and control group: the cleft patients showed amaxillary retroposition and a reduced maxillary length; the inclination of the maxilla was significantly more posterior and cranial; the anterior nasopharyngeal height was reduced; the nasopharyngeal growth followed a vertical tendency with reduced sagittal dimensions concerning hard and soft tissue. The velum length was reduced. In the cleft group, an accumulation of mandibular retrognathia and an anterior position of the hyoid were observed. Skeletal configuration and type of growth were predominantly vertical. Conclusions. Our data provides a fundamental radiological analysis of the nasopharyngeal development in cleft patients. It confirms the lateral cephalogram as a basic diagnostic device in the analysis of nasopharyngeal and skeletal growth in cleft patients. PMID:22523495

  12. A Innovative Technique - Modified Feeding Bottle for a Cleft Palate Infant

    PubMed Central

    Lingegowda, Ashwini Budunur; Rayannavar, Sounyala; Kumari, Nirmala

    2016-01-01

    Cleft lip and cleft palate are one of the most common craniofacial anomalies. Infants suffer a lot of difficulty in sucking during the initial few days after birth. There is even psychological stress to the parents due to improper feeding and the infants lose weight and are prone to nutritional insufficiency. Due to recent advancement in the medical field, there is a total repair of cleft lip and cleft palate and these procedures are performed in the later stages of infants. It is the multidisciplinary approach which includes pedodontist, oral surgeon, prosthodontist and speech therapist. In this article, the technique is highlighted to fulfill the feeding problem of infants in the early stages of birth with a modified feeding bottle. PMID:27190971

  13. A Innovative Technique - Modified Feeding Bottle for a Cleft Palate Infant.

    PubMed

    Hiremath, Vinuta Siddayya; Lingegowda, Ashwini Budunur; Rayannavar, Sounyala; Kumari, Nirmala

    2016-04-01

    Cleft lip and cleft palate are one of the most common craniofacial anomalies. Infants suffer a lot of difficulty in sucking during the initial few days after birth. There is even psychological stress to the parents due to improper feeding and the infants lose weight and are prone to nutritional insufficiency. Due to recent advancement in the medical field, there is a total repair of cleft lip and cleft palate and these procedures are performed in the later stages of infants. It is the multidisciplinary approach which includes pedodontist, oral surgeon, prosthodontist and speech therapist. In this article, the technique is highlighted to fulfill the feeding problem of infants in the early stages of birth with a modified feeding bottle.

  14. 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.

  15. Stabilization of premaxilla repositioned during secondary bone grafting in complete bilateral cleft lip and palate patients.

    PubMed

    Behnia, Hossein; Mesgarzadeh, Abolhasan; Tehranchi, Azita; Morad, Golnaz; Samieerad, Sahand; Younessian, Farnaz

    2014-07-01

    Secondary bone grafting simultaneous to premaxillary repositioning is a well-recognized surgical procedure for the management of bilateral cleft lip and palate patients. Proper stabilization of the repositioned premaxilla is considered as a key factor for the success of secondary bone grafting because the mobility of the premaxillary segment jeopardizes graft integration. This case series reports a reliable method of premaxillary stabilization that incorporated the intrasurgical application of resin bone cement to cover and reinforce the arch bars or orthodontic brackets applied on the maxillary teeth. Occlusal loads were reduced by application of posterior bite blocks on the mandibular teeth. The stabilization method was performed on 7 patients (5 women and 2 men) with a mean age of 12.4 years. During postsurgery follow-ups, the repositioned premaxillary segments did not show mobility in any of the patients. The palatal fistulae were completely closed. Panoramic radiographies taken 2 months after surgery demonstrated acceptable graft integration. The patients have now been followed up to 5 years. No evidence of relapse has been observed. This technique seemed to be undemanding, included minimal laboratory procedure, and maintained the labial mucosa overlying the repositioned segment intact.

  16. Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate

    SciTech Connect

    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.

  17. MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE.

    PubMed

    Demir, N; Peker, E; Gülşen I; Kaba, S; Tuncer, O

    2015-01-01

    The megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome is quite rarely seen. The four main findings in this syndrome may be accompanied by severe psychomotor retardation, blindness, hypotonia, convulsions, and facial dysmorphism. In this paper, we present a female newborn at 39 weeks gestational age born to parents who are first degree cousins. Beside the facial dysmorphism and four main features of the MPPH syndrome, the findings on the physical examination of the patient were, hypertonicity, occipital encephalocele, cleft palate, and multiple polyps in the tongue. The presence of occipital encephalocele, cleft palate, and polyps in the tongue in this patient was not reported previously in the literature.

  18. Pre: Surgical orthopedic pre-maxillary alignment in bilateral cleft lip and palate patient

    PubMed Central

    Ellore, Vijaya Prasad Kamavaram; Ramagoni, Naveen Kumar; Taranatha, Mahantesha; Nara, Asha; Gunjalli, Gururaj; Bhat, Ashwin Devasya

    2012-01-01

    Pre-surgical orthopedic appliances are mainly used to retract and align the protruded and deviated pre-maxilla and to facilitate initial lip repair. This article presents a case report of a five year old male child patient with bilateral cleft lip and palate in whom a special custom made pre-surgical orthopedic appliance was delivered. Use of a special custom made presurgical orthopedic appliance for repositioning pre-maxilla in bilateral cleft lip and palate patient is discussed in this article. PMID:23293501

  19. Cleft palate speech and velopharyngeal dysfunction: the approach of the speech therapist.

    PubMed

    De Bodt, M; Van Lierde, K

    2006-01-01

    Cleft palate and velopharyngeal dysfunction cause communication disorders in many different ways (articulation, resonance, voice and language). These problems are mainly present in childhood but remain a matter of concern for many years. Speech and language pathologists are involved in speech and language assessment and speech therapy procedures. This article gives an overview of the standard procedures of the speech pathologist in a cleft palate team and discusses the relationship between the team and private practices or school teams, as well as the practical aspects relating to reimbursement by the National Institute of Health and Invalidity (RIZIV).

  20. Simultaneous premaxillary repositioning and cheiloplasty in adult patients with unrepaired bilateral cleft lip and palate.

    PubMed

    Lee, Ui-Lyong; Cho, Jun-Bum; Choung, Pill-Hoon

    2013-03-01

    Primary cheiloplasty in adult patients with unrepaired complete bilateral cleft lip and palate is quite challenging due to severe premaxillary anterior projection. To get the best repair results, the author carried out repositioning of the premaxilla and repair of the lip deformity in a single stage. Positive results for the primary lip repair and appropriate repositioning of the premaxilla were achieved. No avascular necrosis of the premaxilla was observed. Repositioning of the premaxilla and repair of the lip deformity in a single operation appears to be a reliable method for treating adult patients with previously unrepaired or poorly repaired bilateral cleft lip and palate.

  1. Modified Intraoral Repositioning Appliance in Complete Bilateral Cleft Lip and Palate

    PubMed Central

    Ahuja, NK; Gahlawat, Subhash

    2011-01-01

    Objective The purpose of the modified repositioning appliance was to overcome the shortcoming of existing design for repositioning protruded premaxilla in a child with bilateral cleft lip and palate. Methods The basic principles of design were similar to Latham’s appliance but the surgical pinning of premaxillary segment was avoided and instead acrylic splint was prepared. Conclusions This technique avoids any invasive procedure, is useful to reposition protruded premaxillary segment in bilateral cleft lip and palate cases specifically in child who reports late with deciduous dentition. PMID:27672252

  2. Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate

    PubMed Central

    Nouri, Narges; Memarzadeh, Mehrdad; Salehi, Mansoor; Nouri, Nayereh; Meamar, Rokhsareh; Behnam, Mahdiyeh; Derakhshandeh, Fatemeh; Kashkoolinejad, Tahereh; Abdali, Hossein

    2016-01-01

    Background: 22q11.2 microdeletion syndrome is the most common multiple genetic disorder associated with learning disabilities, developmental delays, immune deficiency, hypocalcemia, and cleft palate. Finding some valid criteria for screening of 22q11.2 deletion syndromes in infants would be very helpful in early diagnosis and treatment. Materials and Methods: Since 69% of individuals with 22q11.2 deletion have a palatal abnormality, we studied the prevalence of 22q11.2 deletion syndrome in 378 Iranian patients during a 5-year period, including 291 patients affected with cleft palate only without cleft lip (CPO) and 87 patients affected with velopharyngeal incompetence (VPI) and/or submucous cleft palate (SMCP). DNA copy number was analyzed with multiplex ligation-dependent probe amplification (MLPA) technique. Results: In our study, 15/378 (3.97%) patients with palatal anomalies showed 22q11.2 deletion. Interestingly, this prevalence between syndromic patients was 15/104 (14.42%). Conclusion: It seems that SMCP or VPI, in addition to one or more another features of 22q11.2 deletions, especially developmental delay, may be good criteria for molecular investigation of 22q11.2 region. PMID:28217639

  3. Dental anomalies in children with cleft lip and palate in Western Australia

    PubMed Central

    Nicholls, Wendy

    2016-01-01

    Objective: The purpose of this paper was to describe the prevalence and type of dental anomalies in the primary and permanent dentition in children with a cleft condition at Princess Margaret Hospital in Perth, Western Australia. Materials and Methods: The details of 162 current dental patients extracted from the main dental database through their year of birth for the period 1998–2001 were selected consecutively. Dental records and X-rays were examined by one examiner (WN) and verified by a second examiner (RB) to determine dental development. The mean age of the subjects was 10.8 years with equal numbers of males and females. Subjects were further divided into cleft type; unilateral cleft lip (UCL) and palate, bilateral cleft lip (BCL) and palate, UCL, BCL, and cleft palate. Results: One hundred sixty-two subjects were grouped into 21 categories of anomaly or abnormality. Prevalence rates for the categories were calculated for the overall group and for gender and cleft type. Conclusion: Overall, 94% of patients were found to have at least one dental anomaly, with fifty-six (34%) patients having more than one anomaly or abnormality. PMID:27095907

  4. Selection bias in genetic-epidemiological studies of cleft lip and palate

    SciTech Connect

    Christensen, K.; Holm, N.V.; Kock, K. ); Olsen, J. ); Fogh-Anderson, P.

    1992-09-01

    The possible impact of selection bias in genetic and epidemiological studies of cleft lip and palate was studied, using three nationwide ascertainment sources and an autopsy study in a 10% sample of the Danish population. A total of 670 cases were identified. Two national record systems, when used together, were found suitable for ascertaining facial cleft in live births. More than 95% ascertainment was obtained by means of surgical files for cleft lip (with or without cleft palate) without associated malformations/syndromes. However, surgical files could be a poor source for studying isolated cleft palate (CP) (only a 60% and biased ascertainment), and they cannot be used to study the prevalence of associated malformations or syndromes in facial cleft cases. The male:female ratio was 0.88 in surgically treated cases of CP and was 1.5 in nonoperated CP cases, making the overall sex ratio for CP 1.1 (95% confidence limits 0.86-1.4) The sex ratio for CP without associated malformation was 1.1 (95% confidence limits 0.84-1.6). One of the major test criteria in CP multifactorial threshold models (higher CP liability among male CP relatives) must be reconsidered, if other investigations confirm that a CP sex-ratio reversal to male predominance occurs when high ascertainment is achieved. 24 refs., 1 fig., 4 tabs.

  5. [The treatment of cleft lip, cleft palate and other dysmorphisms: the ideal technic and therapeutic reality].

    PubMed

    Chancholle, A R; Saboye, J

    2004-12-01

    Good results in any surgical or orthodontic procedure require expert technique, well adapted to the problem and scrupulously executed. A technique that would achieve the best results can be described as "ideal" and can serve as a theoretical model for all similar cases. But, in dealing with apparently similar problems: cleft lips and palates, Class II or Class III cases... in reality, we are treating individual patients, none quite the same as any other. These differences derive from the varying characteristics of individual patients and from the varying and unpredictable responses of their tissues, and from their varying capacities to accommodate to and withstand insults, suffering, and the sensory-motor effects of their deformities and of the treatment they undergo, and, finally, from their variable readiness to submit to and to pay for treatment with their time and with their money. Any therapeutic technique must take into account these realities which sometimes oblige us to modify an ideal technique so that it will fit the specialized needs of a patient, an accommodation that can be defined as "therapeutic realism". When we ignore this reality, we risk the paradox of providing patients with technically ideal results that they find unsatisfactory or discover that what we thought was a technically mediocre outcome has delighted our patient: ultimately, it is the patient's judgment that determines the "therapeutic result" and is, in effect, the Final Evaluation of the technical result.

  6. Sociological aspects of cleft palate adults: IV. Social integration.

    PubMed

    Peter, J P; Chinsky, R R; Fisher, M J

    1975-07-01

    The patterns of social integration of adults with primary and secondary groups were evaluated for 196 adult cleft subjects, their 190 siblings and 209 random controls. Results indicated that cleft adults tended to rely on the extended family for mutual aid and social activities. They also participated less frequently in voluntary associations and relied on a few one-to-one friendships. Social activities tended to be that of informal visiting patterns. While it would be inaccurate to characterize the cleft adult family as grossly different from other American families, they are a definable population experiencing some degree of limitation associated with having a cleft.

  7. A preliminary report on one stage open tip rhinoplasty at the time of lip repair in bilateral cleft lip and palate: the Alor Setar experience.

    PubMed

    Trott, J A; Mohan, N

    1993-04-01

    This paper is a preliminary report on a strategy to perform open tip rhinoplasty at the time of lip repair in bilateral cleft lip and palate deformity. This method was devised to suit unique socio-economic circumstances in the Malaysian centre of Alor Setar. Of 8 cases having surgery in 1991, 7 returned for follow-up with results being documented photographically. It is concluded that this aggressive approach is justified in severe bilateral cleft lip and palate deformity because of the cost effectiveness of limiting the number of interventions. Furthermore, it provides optimally orientated nasal tip anatomy and reduces the social stigma of cleft lip nose appearance from the earliest possible time in the child's development.

  8. 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.

  9. Predictors of poor dental arch relationship in young children with unilateral cleft lip and palate.

    PubMed

    Hsieh, Yuh-Jia; Liao, Yu-Fang; Shetty, Akshai

    2012-08-01

    The aim of this cross-sectional outcome study using retrospective data capture of treatment histories was to examine the characteristics of young children with unilateral cleft lip and palate who had poor dental arch relationship (i.e., Goslon 5). The study sample comprised 120 children born with nonsyndromic complete unilateral cleft lip and palate between 1995 and 2003, and were aged between 5.0 and 7.0 years (mean age, 5.1 years) at the time of data collection. The dental arch relationship was assessed using the Goslon yardstick from intraoral dental photographs. An independent investigator recorded treatment histories from the clinical notes. The inter- and intraexaminer agreements evaluated by weighted kappa statistics were high. There was no association between dental arch relationship and the type of presurgical orthopedics or pharyngeal flap. Dental arch relationship was associated with the initial cleft size (odds ratio, OR = 1.3; 95% confidence interval, CI = 1.1-1.5, p < 0.01), surgeon grade for palate repair (OR = 5.0, 95% CI = 1.2-19.9, p < 0.05), and primary gingivoperiosteoplasty (OR = 2.8, 95% CI = 1.0-8.1, p = 0.05). These data suggest that intraoral dental photographs provide a reliable method for rating dental arch relationship. Wide initial cleft, high-volume surgeon, and primary gingivoperiosteoplasty are predictors of poor dental arch relationship outcome in young children with unilateral cleft lip and palate. These findings may improve treatment outcome by modifying the treatment protocol for patients with unilateral cleft lip and palate.

  10. Dual embryonic origin of maxillary lateral incisors: clinical implications in patients with cleft lip and palate

    PubMed Central

    Garib, Daniela Gamba; Rosar, Julia Petruccelli; Sathler, Renata; Ozawa, Terumi Okada

    2015-01-01

    Introduction: Cleft lip and palate are craniofacial anomalies highly prevalent in the overall population. In oral clefts involving the alveolar ridge, variations of number, shape, size and position are observed in maxillary lateral incisors. The objective of this manuscript is to elucidate the embryonic origin of maxillary lateral incisors in order to understand the etiology of these variations. Contextualization: The hypothesis that orofacial clefts would split maxillary lateral incisor buds has been previously reported. However, recent studies showed that maxillary lateral incisors have dual embryonic origin, being partially formed by both the medial nasal process and the maxillary process. In other words, the mesial half of the lateral incisor seems to come from the medial nasal process while the distal half of the lateral incisor originates from the maxillary process. In cleft patients, these processes do not fuse, which results in different numerical and positional patterns for lateral incisors relating to the alveolar cleft. In addition to these considerations, this study proposes a nomenclature for maxillary lateral incisors in patients with cleft lip and palate, based on embryology and lateral incisors position in relation to the alveolar cleft. Conclusion: Embryological knowledge on the dual origin of maxillary lateral incisors and the use of a proper nomenclature for their numerical and positional variations renders appropriate communication among professionals and treatment planning easier, in addition to standardizing research analysis. PMID:26560830

  11. 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.

  12. Is there an optimal resting velopharyngeal gap in operated cleft palate patients?

    PubMed Central

    Yellinedi, Rajesh; Damalacheruvu, Mukunda Reddy

    2013-01-01

    Context: Videofluoroscopy in operated cleft palate patients. Aims: To determine the existence of an optimal resting velopharyngeal (VP) gap in operated cleft palate patients Settings and Design: A retrospective analysis of lateral view videofluoroscopy of operated cleft palate patients. Materials and Methods: A total of 117 cases of operated cleft palate underwent videofluoroscopy between 2006 and 2011. The lateral view of videofluoroscopy was utilised in the study. A retrospective analysis of the lateral view of videofluoroscopy of these 117 patients was performed to analyse the resting VP gap and its relationship to VP closure. Statistical analysis used: None. Results: Of the 117 cases, 35 had a resting gap of less than 6 mm, 34 had a resting gap between 6 and 10 mm and 48 patients had a resting gap of more than 10 mm. Conclusions: The conclusive finding was that almost all the patients with a resting gap of <6 mm (group C) achieved radiological closure of the velopharynx with speech; thus, they had the least chance of VP insufficiency (VPI). Those patients with a resting gap of >10 mm (group A) did not achieve VP closure on phonation, thus having full-blown VPI. Therefore, it can be concluded that the ideal resting VP gap is approximately 6 mm so as to get the maximal chance of VP closure and thus prevent VPI. PMID:23960311

  13. A Procedure for the Computerized Analysis of Cleft Palate Speech Transcription

    ERIC Educational Resources Information Center

    Fitzsimons, David A.; Jones, David L.; Barton, Belinda; North, Kathryn N.

    2012-01-01

    The phonetic symbols used by speech-language pathologists to transcribe speech contain underlying hexadecimal values used by computers to correctly display and process transcription data. This study aimed to develop a procedure to utilise these values as the basis for subsequent computerized analysis of cleft palate speech. A computer keyboard…

  14. Bilingual Children with Nonsyndromic Cleft Lip and/or Palate: Language and Memory Skills

    ERIC Educational Resources Information Center

    Young, Selena Ee-Li; Purcell, Alison Anne; Ballard, Kirrie Jane; Liow, Susan Jane Rickard; Ramos, Sara Da Silva; Heard, Robert

    2012-01-01

    Purpose: Research shows that monolingual children with cleft lip and/or palate (CLP) have a higher incidence of cognitive-linguistic deficits, but it is not clear whether bilingual preschool children with CLP are especially vulnerable because they need to acquire 2 languages. We tested the hypothesis that bilingual children with CLP score lower…

  15. Speech Analysis of Bengali Speaking Children with Repaired Cleft Lip & Palate

    ERIC Educational Resources Information Center

    Chakrabarty, Madhushree; Kumar, Suman; Chatterjee, Indranil; Maheshwari, Neha

    2012-01-01

    The present study aims at analyzing speech samples of four Bengali speaking children with repaired cleft palates with a view to differentiate between the misarticulations arising out of a deficit in linguistic skills and structural or motoric limitations. Spontaneous speech samples were collected and subjected to a number of linguistic analyses…

  16. Cognitive Patterns and Learning Disabilities in Cleft Palate Children with Verbal Deficits.

    ERIC Educational Resources Information Center

    Richman, Lynn C.

    1980-01-01

    The study examined patterns of cognitive ability in 57 cleft lip and palate children (ages 7 to 9) with verbal deficit, but without general intellectual retardation to evaluate whether the verbal disability displayed by these children was related primarily to a specific verbal expression deficit or a more general symbolic mediation problem.…

  17. Educational Programming: A Seminar for Young Adults with Cleft Lip and/or Palate.

    ERIC Educational Resources Information Center

    Imhoff, Michael; And Others

    1981-01-01

    The social service staff of the H. K. Cooper Clinic (Lancaster, Pennsylvania) conducted a seminar for young adults with cleft lip and palate (CL/P) and their families. The seminar was designed to respond to questions and concerns regarding the impact of CL/P on employment, social relations, and genetics. (SB)

  18. Phonological Proficiency of Two Cleft Palate Toddlers with School-Age Follow-Up.

    ERIC Educational Resources Information Center

    Lynch, Joan I.; And Others

    1983-01-01

    A comprehensive analysis of the speech-sound production at ages two-three, five, and seven of two children with repaired bilateral cleft lip and palate. Results indicated individual differences in that one S's emerging phonological system was more characteristic of developmental delay while the other was more characteristic of structural…

  19. Issues in Perceptual Speech Analysis in Cleft Palate and Related Disorders: A Review

    ERIC Educational Resources Information Center

    Sell, Debbie

    2005-01-01

    Perceptual speech assessment is central to the evaluation of speech outcomes associated with cleft palate and velopharyngeal dysfunction. However, the complexity of this process is perhaps sometimes underestimated. To draw together the many different strands in the complex process of perceptual speech assessment and analysis, and make…

  20. Effect of Maxillary Osteotomy on Speech in Cleft Lip and Palate: Perceptual Outcomes of Velopharyngeal Function

    ERIC Educational Resources Information Center

    Pereira, Valerie J.; Sell, Debbie; Tuomainen, Jyrki

    2013-01-01

    Background: Abnormal facial growth is a well-known sequelae of cleft lip and palate (CLP) resulting in maxillary retrusion and a class III malocclusion. In 10-50% of cases, surgical correction involving advancement of the maxilla typically by osteotomy methods is required and normally undertaken in adolescence when facial growth is complete.…

  1. Delayed closure of the hard palate: a comparison of speech in children with open and functionally closed residual clefts.

    PubMed

    Lohmander-Agerskov, A; Friede, H; Lilja, J; Söderpalm, E

    1996-06-01

    The speech of 20 children with cleft in the hard palate that had not yet been repaired was evaluated and analysed at 7 years of age. The cleft in the hard palate was open in 14 patients and functionally closed in six. All children were born with cleft lip and palate and treated surgically according to a routine that included delayed closure of the hard palate until age 8-10 years. The soft palate was repaired at approximately 6-8 months of age. Tape recordings were used for perceptual analysis of the speech. Maxillary casts were used to assess approximate age for functional closure of the residual cleft. Speech results showed only mild hypernasality for both groups of subjects which indicates acceptable velopharyngeal function in the whole group. Children with open residual clefts had significantly more nasal escape and a higher prevalence of compensatory retracted articulation than children with functionally closed clefts. The functional closure seems to have occurred at about the age of 18-36 months. Factors which appear to facilitate narrowing of the residual cleft include the original width of the cleft, the amount of tissue in the alveolar and palatal processes, and anterior placement of a vomer flap.

  2. 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.

  3. Initial size of cleft does not correlate with size and function of nasal airway in adults with unilateral cleft lip and palate.

    PubMed

    Reiser, Erika; Andlin-Sobocki, Anna; Mani, Maria; Holmström, Mats

    2011-06-01

    The noses of patients with clefts are often functionally inadequate. The aim of the present study was to evaluate the correlation between size of the maxillary cleft in infancy and size and function of the nasal airway in adults with unilateral cleft lip and palate (UCLP). This is a long-term follow up study including 53 patients with UCLP born between 1960 and 1987 and treated at the Cleft Lip and Palate Centre, Uppsala University Hospital, Sweden. Lip repair was performed at 3-4 months of age followed by either a one-stage or a two-stage palatal closure. The size of the cleft was measured on infant maxillary dental casts. Nasal minimum cross-sectional area (cm(2)) and volume (cm(3)) (acoustic rhinometry), air flow resistance (Pa s/cm(3)) (rhinomanometry), peak inspiratory flow (l/min) (peak nasal inspiratory flow) and number of identified odours (Scandinavian odor-identification test) were assessed in adulthood. The size of the maxillary cleft varied considerably at infancy. The size of the nasal airway and its function on the cleft side in adulthood were reduced compared with the non-cleft side, but no correlations were found between size of the initial cleft in infancy and size and function of the nasal airway in adulthood. In adults born with UCLP, therefore, size of the maxillary cleft in infancy does not seem to affect size and function of the nasal airway in adulthood.

  4. An innovative technique to restore velopharyngeal incompetency for a patient with cleft lip and palate

    PubMed Central

    Ahmad, Manawar; Dhanasekar, B; Aparna, I N; Naim, Hina

    2013-01-01

    Treatment of cleft lip and palate patients often demand well-coordinated work of medical and dental specialists. In spite of surgical and orthodontic therapy, prosthetic rehabilitation is always necessary because of partial anadontia, maxillary hypoplasia and velopharyngeal dysfuction. The aim of the prosthetic treatment is to improve aesthetics, function and speech of the patients; however, factors like underdeveloped and collapsed maxillary arch, retrognathic maxilla and reduced alveolar ridge height make the treatment challenging. This clinical report describes an interdisciplinary approach for the management of cleft lip and palate patient associated with mutilated dentition. The prosthetic phase began along with orthodontic treatment to achieve sufficient space distribution, which was restored with fixed dental prosthesis to stabilise the achieved status of occlusion. Palatal lift prosthesis was fabricated to restore the velopharyngeal incompetency with an innovative technique using ‘standard orthodontic expansion screw’ to eliminate hypernasality, decrease intelligibility of speech and to aid in deglutition. PMID:23821635

  5. An innovative technique to restore velopharyngeal incompetency for a patient with cleft lip and palate.

    PubMed

    Ahmad, Manawar; Dhanasekar, B; Aparna, I N; Naim, Hina

    2013-07-02

    Treatment of cleft lip and palate patients often demand well-coordinated work of medical and dental specialists. In spite of surgical and orthodontic therapy, prosthetic rehabilitation is always necessary because of partial anadontia, maxillary hypoplasia and velopharyngeal dysfuction. The aim of the prosthetic treatment is to improve aesthetics, function and speech of the patients; however, factors like underdeveloped and collapsed maxillary arch, retrognathic maxilla and reduced alveolar ridge height make the treatment challenging. This clinical report describes an interdisciplinary approach for the management of cleft lip and palate patient associated with mutilated dentition. The prosthetic phase began along with orthodontic treatment to achieve sufficient space distribution, which was restored with fixed dental prosthesis to stabilise the achieved status of occlusion. Palatal lift prosthesis was fabricated to restore the velopharyngeal incompetency with an innovative technique using 'standard orthodontic expansion screw' to eliminate hypernasality, decrease intelligibility of speech and to aid in deglutition.

  6. PATTERN OF DISOCCLUSION IN PATIENTS WITH COMPLETE CLEFT LIP AND PALATE

    PubMed Central

    Matos, Daniella Andaluza Dias; Teixeira, Marcelo Lucchesi; Pinto, João Henrique Nogueira; Lopes, José Fernando Scarelli; Dalben, Gisele da Silva

    2006-01-01

    Objective: to analyze the pattern of disocclusion during excursive mandibular movements and presence or absence of occlusal interferences and occlusal pathologies (gingival recession and abfraction). Method: examination of 120 individuals divided into two groups, as follows: Group 1-90 patients with complete cleft lip and palate (study group), subdivided into 30 patients with complete left unilateral cleft lip and palate, 30 patients with complete right unilateral cleft lip and palate and 30 patients with complete bilateral cleft lip and palate; Group 2-30 individuals without clefts (control group). Results: 58.8% of patients in Group 1 presented unilateral or bilateral canine guidance, 26.6% presented unilateral or bilateral group function and 54.4% presented lateral movements through the posterior teeth. Regarding protrusive movements, 80% presented anterior guidance and 20% presented posterior guidance. In Group 2, 69.6% of individuals presented unilateral or bilateral canine guidance, 43.2% presented unilateral or bilateral group function and only 13.3% presented lateral movements through the posterior teeth; 3.4% presented protrusion through the posterior teeth. Conclusions: there was no difference in the pattern of disocclusion between subgroups of patients with clefts. Group 2 presented predominance of bilateral group function, whereas Group 1 presented a higher prevalence of posterior guidance during lateral movements. Protrusion occurred primarily through anterior guidance in Group 2 and through the posterior teeth in Group 1. There was high prevalence of occlusal interferences at the molar area for both groups, yet with no correlation with occlusal pathologies (recession and abfraction). PMID:19089065

  7. Maxillary lateral incisors of subjects with cleft lip and/or palate: Part 2.

    PubMed

    Suzuki, A; Watanabe, M; Nakano, M; Takahama, Y

    1992-07-01

    Maxillary lateral incisors on the alveolar cleft were investigated in 431 cleft children registered in the Department of Orthodontics, Kyushu University Dental Hospital. The majority of primary maxillary lateral incisors were located on the distal side of the alveolar cleft in both unilateral cleft lip and alveolus (UCLA) and unilateral cleft lip and palate (UCLP) subjects. Permanent teeth in UCLA tend to be located distally, but in UCLP they tend to be congenitally absent (p less than .01). The majority of primary teeth had normal shapes; the majority of permanent teeth were of intermediate type or were missing congenitally. One third of the UCLA and one half of the UCLP subjects who had primary maxillary lateral incisors were not followed by permanent replacements. The location of the majority of permanent maxillary lateral incisors tallied with that of the primary ones except in four UCLA, ten UCLP, and two bilateral cleft lip and palate (BCLP) subjects. Four UCLA and ten UCLP subjects who had primary lateral incisors on the distal side were followed by their permanent successors on the mesial side. Three UCLP and one BCLP subjects had permanent maxillary lateral incisors even though they had no temporary predecessors.

  8. Timing and sequence of primary tooth eruption in children with cleft lip and palate

    PubMed Central

    KOBAYASHI, Tatiana Yuriko; GOMIDE, Márcia Ribeiro; CARRARA, Cleide Felício de Carvalho

    2010-01-01

    Objective To determine the timing and sequence of eruption of primary teeth in children with complete bilateral cleft lip and palate. Material and Methods This cross-sectional study was conducted at the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo, Bauru, SP, Brazil, with a sample of 395 children (128 girls and 267 boys) aged 0 to 48 months, with complete bilateral cleft lip and palate Results Children with complete bilateral clefts presented a higher mean age of eruption of all primary teeth for both arches and both genders, compared to children without clefts. This difference was statistically significant for all teeth, except for the maxillary first molar. Mean age of eruption of most teeth was lower for girls compared to boys. The greatest delay was found for the maxillary lateral incisor, which was the eighth tooth of children with clefts of both genders. Analyzing by gender, the maxillary lateral incisor was the eighth tooth to erupt in girls and the last in boys. Conclusion The results suggest an interference of the cleft on the timing and sequence of eruption of primary teeth. PMID:20856997

  9. Dental caries in the primary dentition of german children with cleft lip, alveolus, and palate.

    PubMed

    Kirchberg, Anja; Makuch, Almut; Hemprich, Alexander; Hirsch, Christian

    2014-05-01

    Objective : The purpose of this cross-sectional study was to assess the prevalence of dental caries in children with cleft lip, alveolus, and/or cleft palate living in central Germany between 1996 and 2010. Participants : A total of 295 children 1 to 6 years of age from three birth cohorts (BC) with clefts from central Germany were included in the study. They were compared with 548 1- to 6-year-old cleft-free children from the same region. Setting : Children with clefts underwent a dental examination in an outpatient dental clinic at the University of Leipzig. The first BC was examined between 1996 and 1998, the second between 2002 and 2004, and the third between 2008 and 2010. Controls were examined at day-care centers in Leipzig during the same periods. Main Outcome Measure : The standard dental caries index for the primary dentition (dmf/t3-4) was used for clinical assessment. Results : Over the entire study period, the mean prevalence of dental caries in deciduous teeth was significantly higher (1.32 dmf/t3-4) in children with clefts compared with cleft-free children. However, a decline in caries (approximately 1 dmf/t3-4) and an increase in the proportion of children with healthy primary dentition were observed in both groups. These results represent a caries decline of 61% in children with clefts. Conclusions : Caries rates for children 1 to 6 years of age with clefts from central Germany showed a considerable decline over the last years. The caries rates for clefts patients in the third BC (2008 to 2010) was similar to that of cleft-free children in the first BC (1996 to 1998).

  10. Mice with Tak1 deficiency in neural crest lineage exhibit cleft palate associated with abnormal tongue development.

    PubMed

    Song, Zhongchen; Liu, Chao; Iwata, Junichi; Gu, Shuping; Suzuki, Akiko; Sun, Cheng; He, Wei; Shu, Rong; Li, Lu; Chai, Yang; Chen, YiPing

    2013-04-12

    Cleft palate represents one of the most common congenital birth defects in humans. TGFβ signaling, which is mediated by Smad-dependent and Smad-independent pathways, plays a crucial role in regulating craniofacial development and patterning, particularly in palate development. However, it remains largely unknown whether the Smad-independent pathway contributes to TGFβ signaling function during palatogenesis. In this study, we investigated the function of TGFβ activated kinase 1 (Tak1), a key regulator of Smad-independent TGFβ signaling in palate development. We show that Tak1 protein is expressed in both the epithelium and mesenchyme of the developing palatal shelves. Whereas deletion of Tak1 in the palatal epithelium or mesenchyme did not give rise to a cleft palate defect, inactivation of Tak1 in the neural crest lineage using the Wnt1-Cre transgenic allele resulted in failed palate elevation and subsequently the cleft palate formation. The failure in palate elevation in Wnt1-Cre;Tak1(F/F) mice results from a malformed tongue and micrognathia, resembling human Pierre Robin sequence cleft of the secondary palate. We found that the abnormal tongue development is associated with Fgf10 overexpression in the neural crest-derived tongue tissue. The failed palate elevation and cleft palate were recapitulated in an Fgf10-overexpressing mouse model. The repressive effect of the Tak1-mediated noncanonical TGFβ signaling on Fgf10 expression was further confirmed by inhibition of p38, a downstream kinase of Tak1, in the primary cell culture of developing tongue. Tak1 thus functions to regulate tongue development by controlling Fgf10 expression and could represent a candidate gene for mutation in human PRS clefting.

  11. Objective assessment of internal nasal dimensions and speech resonance in individuals with repaired unilateral cleft lip and palate after rhinoseptoplasty.

    PubMed

    Trindade, Inge Elly Kiemle; Bertier, Carlos Eduardo; Sampaio-Teixeira, Ana Claudia Martins

    2009-03-01

    The objective of the current study was to analyze the effects of rhinoseptoplasty on internal nasal dimensions and speech resonance of individuals with unilateral cleft lip and palate, estimated by acoustic rhinometry and nasometry, respectively. Twenty-one individuals (aged 15-46 years) with previously repaired unilateral cleft lip and palate were analyzed before (PRE), and 6 to 9 (POST1) and 12 to 18 months (POST2) after surgery. Acoustic rhinometry was used to measure the cross-sectional areas (CSAs) of segments corresponding to the nasal valve (CSA1), anterior portion (CSA2), and posterior portion (CSA3) of the lower turbinate, and the volumes at the nasal valve (V1) and turbinate (V2) regions at cleft and noncleft sides, before and after nasal decongestion with a topical vasoconstrictor. Nasometry was used to evaluate speech nasalance during the reading of a set of sentences containing nasal sounds and other devoid of nasal sounds. At the cleft side, before nasal decongestion, there was a significant increase (P < 0.05) in mean CSA1 and V1 values at POST1 and POST2 compared with PRE. After decongestion, increased values were also observed for CSA2 and V2 at POST2. No significant changes were observed at the noncleft side. Mean nasalance values at PRE, POST1, and POST2 were not different from each other in both oral and nasal sentences. The measurement of CSAs and volumes by acoustic rhinometry revealed that rhinoseptoplasty provided, in most cases analyzed, a significant increase in nasal patency, without concomitant changes in speech resonance, as estimated by nasalance assessment.

  12. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) - Part 5: Institutional outcomes assessment and the role of the Laboratory of Physiology

    PubMed Central

    FREITAS, José Alberto de Souza; TRINDADE-SUEDAM, Ivy Kiemle; GARIB, Daniela Gamba; NEVES, Lucimara Teixeira das; de ALMEIDA, Ana Lúcia Pompéia Fraga; YAEDÚ, Renato Yassukata Faria; OLIVEIRA, Thaís Marchini; SOARES, Simone; LAURIS, Rita de Cássia Moura Carvalho; YAMASHITA, Renata Paciello; TRINDADE JR, Alceu Sergio; TRINDADE, Inge Elly Kiemle; PINTO, João Henrique Nogueira

    2013-01-01

    The Laboratory of Physiology provides support for the diagnosis of functional disorders associated with cleft lip and palate and also conducts studies to assess, objectively, the institutional outcomes, as recommended by the World Health Organization. The Laboratory is conceptually divided into three units, namely the Unit for Upper Airway Studies, Unit for Stomatognathic System Studies and the Unit for Sleep Studies, which aims at analyzing the impact of different surgical and dental procedures on the upper airways, stomatognathic system and the quality of sleep of individuals with cleft lip and palate. This paper describes the main goals of the Laboratory in the assessment of procedures which constitute the basis of the rehabilitation of cleft lip and palate, i.e., Plastic Surgery, Orthodontics and Maxillofacial Surgery and Speech Pathology. PMID:24037080

  13. Safe sleeping positions: practice and policy for babies with cleft palate.

    PubMed

    Davies, Karen; Bruce, Iain A; Bannister, Patricia; Callery, Peter

    2017-03-22

    Guidance recommends 'back to sleep' positioning for infants from birth in order to reduce the risk of sudden infant death. Exceptions have been made for babies with severe respiratory difficulties where lateral positioning may be recommended, although uncertainty exists for other conditions affecting the upper airway structures, such as cleft palate. This paper presents research of (i) current advice on sleep positioning provided to parents of infants with cleft palate in the UK; and (ii) decision making by clinical nurse specialists when advising parents of infants with cleft palate. A qualitative descriptive study used data from a national survey with clinical nurse specialists from 12 regional cleft centres in the UK to investigate current practice. Data were collected using semi-structured telephone interviews and analysed using content analysis. Over half the regional centres used lateral sleep positioning based on clinical judgement of the infants' respiratory effort and upper airway obstruction. Assessment relied upon clinical judgement augmented by a range of clinical indicators, such as measures of oxygen saturation, heart rate and respiration.

  14. Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns' syndrome.

    PubMed

    Benacerraf, B R; Sadow, P M; Barnewolt, C E; Estroff, J A; Benson, C

    2006-05-01

    We present a case of Fryns' syndrome diagnosed prenatally using three-dimensional (3D) ultrasonography and magnetic resonance imaging (MRI). A cleft of the soft palate was diagnosed using 3D thick-slice ultrasonography. Other sonographic findings included a right diaphragmatic hernia, enlarged echogenic kidneys and severe polyhydramnios. The detection of the cleft palate was instrumental in suggesting the diagnosis of Fryns' syndrome in a fetus which also had a diaphragmatic hernia. These findings were also demonstrated with prenatal MRI. The technique of imaging the soft palate en face using a thick-slice technique is presented.

  15. Nasolabial symmetry and aesthetics in children with complete unilateral cleft lip and palate.

    PubMed

    Fudalej, Piotr; Katsaros, Christos; Hozyasz, Kamil; Borstlap, Wilfred A; Kuijpers-Jagtman, Anne Marie

    2012-10-01

    The objective of this study was to evaluate the association between nasolabial symmetry and aesthetics in children with complete unilateral cleft lip and palate (CUCLP). Frontal and basal photographs of 60 consecutively treated children with CUCLP (cleft group: 41 boys and 19 girls, mean (SD) age 11 (2) years) and 44 children without clefts (control group: 16 boys and 28 girls, mean (SD) age 11(2) years), were used for evaluation of nasolabial symmetry and aesthetics. Nasal and labial measurements were made to calculate the coefficient of asymmetry (CA). The 5-grade aesthetic index described by Asher-McDade et al. was used to evaluate nasolabial appearance. Correlation and regression analysis were used to identify an association between aesthetics and CA, sex, and the presence of CUCLP. Ten measurements in the cleft, and 2 in the control, group differed significantly between the cleft and non-cleft (or right and left) sides, respectively. The significantly higher values of 9 of 11 CA in the children with CUCLP indicated that they had more asymmetrical nasolabial areas than children without clefts. However, the regression analyses showed that only a few CA were associated with nasolabial aesthetics. In conclusion, nasolabial aesthetics and nasolabial symmetry seem to be only weakly associated in patients with CUCLP.

  16. Speech outcomes of early palatal repair with or without intravelar veloplasty in children with complete unilateral cleft lip and palate.

    PubMed

    Doucet, Jean-Charles; Herlin, Christian; Captier, Guillaume; Baylon, Hélène; Verdeil, Mélanie; Bigorre, Michèle

    2013-12-01

    We compared the early speech outcomes of 40 consecutive children with complete unilateral cleft lip and palate (UCLP) who had been treated according to different 2-stage protocols: the Malek protocol (soft palate closure without intravelar veloplasty at 3 months; lip and hard palate repair at 6 months) (n=20), and the Talmant protocol (cheilorhinoplasty and soft palate repair with intravelar veloplasty at 6 months; hard palate closure at 18 months) (n=20). We compared the speech assessments obtained at a mean (SD) age of 3.3 (0.35) years after treatment by the same surgeon. The main outcome measures evaluated were acquisition and intelligibility of speech, velopharyngeal insufficiency, and incidence of complications. A delay in speech articulation of one year or more was seen more often in patients treated by the Malek protocol (11/20) than in those treated according to the Talmant protocol (3/20, p=0.019). Good intelligibility was noted in 15/20 in the Talmant group compared with 6/20 in the Malek group (p=0.010). Assessment with an aerophonoscope showed that nasal air emission was most pronounced in patients in the Malek group (p=0.007). Velopharyngeal insufficiency was present in 11/20 in the Malek group, and in 3/20 in the Talmant group (p=0.019). No patients in the Talmant group had an oronasal fistula (p<0.001). All other outcomes were similar. Despite later closure of the soft and hard palate, early speech outcomes were better in the Talmant group because intravelar veloplasty was successful and there were no fistulas after closure of the hard palate in 2 layers.

  17. The Effect of Cleft Lip and Palate, and the Timing of Lip Repair on Mother-Infant Interactions and Infant Development

    ERIC Educational Resources Information Center

    Murray, Lynne; Hentges, Francoise; Hill, Jonathan; Karpf, Janne; Mistry, Beejal; Kreutz, Marianne; Woodall, Peter; Moss, Tony; Goodacre, Tim

    2008-01-01

    Background: Children with cleft lip and palate are at risk for psychological problems. Difficulties in mother-child interactions may be relevant, and could be affected by the timing of lip repair. Method: We assessed cognitive development, behaviour problems, and attachment in 94 infants with cleft lip (with and without cleft palate) and 96…

  18. ALOBAR HOLOPROSENCEPHALY, CLEFT LIP/PALATE, URORECTAL SEPTUM MALFORMATION SEQUENCE AND CONGENITAL PERINEAL HERNIA IN A FETUS.

    PubMed

    Girisha, K M; Nayak, S S; Shukla, A; Bhat, S K

    2015-01-01

    We report on a fetus with alobar holoprosencephaly, complete cleft lip and palate, urorectal septum malformation sequence and perineal hernia. To our knowledge this appears to be a novel fetal malformation syndrome.

  19. Non-syndromic cleft lip and palate: could stress be a causal factor?

    PubMed

    Wallace, Graeme H; Arellano, Jacinta M; Gruner, Tini M

    2011-03-01

    The aetiology of non-syndromic cleft lip and palate has as yet not been clearly defined. Familial relationships, environmental toxins and nutritional status have all been considered without conclusive results, although in some studies a potential link between non-syndromic cleft lip and palate and any one or more of these factors has been proposed. Elevated stress, particularly an extended term of traumatic stress, can lead to oxidative damage at the cellular level via hypothalamus-pituitary-adrenal (HPA) axis dysregulation, high cortisol and cytokine production. The effect of this hormonal shift is to re-direct the blood supply to the mother's muscles, thereby reducing the supply to the placenta, causing a potential nutritional deficiency which may then result in a genetic alteration in the foetus. Mothers with a child aged two years or younger who had been born with a cleft, who were members of CleftPals, a family support group, volunteered to be participants in this qualitative study. The research first called for a survey to be completed by the mother and this was then followed by an interview conducted by the researcher. The study involved families living in the three eastern States of Australia. The results suggest that physical and/or emotional stress may well be implicated in clefting. While little work has been done in considering stress as a causal factor, the existing literature suggests, as does this study, that elevated stress levels at, or soon after, conception appear to affect foetal development.

  20. 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

  1. 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

    Freitas, José Alberto de Souza; Garib, Daniela Gamba; Oliveira, Marchini; Lauris, Rita de Cássia Moura Carvalho; Almeida, Ana Lúcia Pompéia Fraga de; 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.

  2. Snail family members and cell survival in physiological and pathological cleft palates.

    PubMed

    Martínez-Alvarez, Concepción; Blanco, María J; Pérez, Raquel; Rabadán, M Angeles; Aparicio, Marta; Resel, Eva; Martínez, Tamara; Nieto, M Angela

    2004-01-01

    Palate fusion is a complex process that involves the coordination of a series of cellular changes including cell death and epithelial to mesenchymal transition (EMT). Since members of the Snail family of zinc-finger regulators are involved in both triggering of the EMT and cell survival, we decided to study their putative role in palatal fusion. Furthermore, Snail genes are induced by transforming growth factor beta gene (TGF-beta) superfamily members, and TGF-beta(3) null mutant mice (TGF-beta(3)-/-) show a cleft palate phenotype. Here we show that in the wild-type mouse at the time of fusion, Snail is expressed in a few cells of the midline epithelial seam (MES), compatible with a role in triggering of the EMT in a small subpopulation of the MES. We also find an intriguing relationship between the expression of Snail family members and cell survival associated to the cleft palate condition. Indeed, Snail is expressed in the medial edge epithelial (MEE) cells in TGF-beta(3)-/-mouse embryo palates, where it is activated by the aberrant expression of its inducer, TGF-beta(1), in the underlying mesenchyme. In contrast to Snail-deficient wild-type pre-adhesion MEE cells, Snail-expressing TGF-beta(3) mutant MEE cells survive as they do their counterparts in the chick embryo. Interestingly, Slug is the Snail family member expressed in the chick MEE, providing another example of interchange of Snail and Slug expression between avian and mammalian embryos. We propose that in the absence of TGF-beta(3), TGF-beta(1) is upregulated in the mesenchyme, and that in both physiological (avian) and pathological (TGF-beta(3)-/-mammalian) cleft palates, it induces the expression of Snail genes promoting the survival of the MEE cells and permitting their subsequent differentiation into keratinized stratified epithelium.

  3. Prenatal Counseling, Ultrasound Diagnosis, and the Role of Maternal-Fetal Medicine of the Cleft Lip and Palate Patient.

    PubMed

    James, Jeffrey N; Schlieder, Daniel W

    2016-05-01

    A multidisciplinary team is the standard of care and the cornerstone of management of cleft patients. With readily improving advanced diagnostic modalities, early prenatal diagnosis of cleft lip and palate increasingly becomes a topic of importance for both the team caring for and families of cleft patients. Maternal-fetal medicine is a fellowship subspecialty of obstetrics that can offer high-quality care and coordination to the cleft team. Both 3-D and 4-D sonography lead to early prenatal diagnosis of cleft patients; however, differences in training result in variations in its diagnostic accuracy.

  4. Clinical presentation of epignathus teratoma with cleft palate; and duplication of cranial base, tongue, mandible, and pituitary gland.

    PubMed

    Maeda, Yujiro; Suenaga, Hideyuki; Sugiyama, Madoka; Saijo, Hideto; Hoshi, Kazuto; Mori, Yoshiyuki; Takato, Tsuyoshi

    2013-07-01

    A 2-day-old girl was diagnosed with an oral epignathus teratoma and an uncommon combination of orofacial malformations including cleft palate; tongue, mandible, cranial base, cervical vertebrae, lower lip, and pituitary gland duplications; and fistula of the glabella and lower lip. Computed tomography revealed that the mass within the nasal cavity had tooth-like calcifications and protruded into the nasopharynx and oral cavity. It was implanted on the anterior wall of the body of the sphenoid bone and was accompanied with mandibular duplication. Magnetic resonance imaging detected duplication of the pituitary gland and confirmed the absence of intracranial communication of the nasopharyngeal mass. The teratoma did not cause respiratory obstruction; however, the patient required continuous nasogastric tube feeding. Usually, an epignathus teratoma is associated with few midline defects and can be corrected with multiple interventions at different time points. The current study describes the surgical procedure comprising excision of the tumor along with reconstructive surgeries of the mandible, tongue, and fistulae undertaken when the infant reached 7 months of age. The cleft palate was repaired at 18 months of age using the Kaplan buccal flap method. Histopathologic examination confirmed a grade 0 teratoma covered with keratinized skin and containing pilosebaceous and sweat glands, adipose tissue, and smooth muscle. The long-term success of this intervention was determined at the follow-up examination conducted at 3 years of age, with no signs of the teratoma recurrence observed.

  5. 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

  6. New neonatal classification of unilateral cleft lip and palate part 2: to predict permanent lateral incisor agenesis and maxillary growth.

    PubMed

    Doucet, Jean-Charles; Delestan, Christian; Montoya, Pedro; Matei, Lucia; Bigorre, Michèle; Herlin, Christian; Baümler, Caroline; Daures, Jean-Pierre; Captier, Guillaume

    2014-09-01

    Objectives : To bring a neonatal classification system of unilateral cleft lip and palate and to correlate this classification with the distribution of the permanent lateral incisor and maxillary growth. Design : Retrospective with longitudinal follow-up. Setting : Tertiary. Patients : A total of 112 individuals with treated unilateral cleft lip and palate and 30 controls. Main Outcome Measures : Unilateral cleft lip and palate neonatal casts were classified anatomically in four categories, in which Class 1 corresponds to a maxillary arch with a narrow alveolar cleft; Class 2 corresponds to a balanced form; Class 3 corresponds to a wide cleft and short maxilla; and Class 4 corresponds to a wide cleft and long maxilla. The classification was correlated with the distribution of the permanent lateral incisor. Maxillary growth was evaluated using a cephalometric analysis after the age of 10 years. Results : Clinical classification of unilateral cleft lip and palate found 10 cases of Class 1 (8.9%), 34 cases of Class 2 (30.4%), 46 cases of Class 3 (41.1%), and 22 cases of Class 4 (19.6%). The permanent lateral incisor was most often present in narrower clefts (Classes 1 and 2); whereas, large clefts (Classes 3 and 4) were relatively more frequently associated with an agenesis of the permanent lateral incisor (P = .019). Maxillary growth impairment was most severe in Class 3, with a mean sella-nasion-A point angle at 71.9° ± 4.6° (P < .001). Conclusions : Using the cleft width, arch form, and shape of the nasal septum, unilateral cleft lip and palate can be classified into four different classes at birth, which can all give information about permanent lateral incisor agenesis and maxillary growth.

  7. [The impact of cleft lip and palate on the parent-child relationships].

    PubMed

    Grollemund, B; Galliani, E; Soupre, V; Vazquez, M-P; Guedeney, A; Danion, A

    2010-09-01

    Cleft lips and palates (CLPs) are the most common human facial malformations. Depending on the ethnic and/or geographical origin of the studied populations, they can affect up to 1/500 newborns. The treatment of these patients is multidisciplinary because these malformations have not only aesthetic consequences but also functional consequences as the phonation, hearing, deglutition, mastication and ventilation are altered. These consequences can also be psychological since the building of the body image, the way others perceive it, is likely to be seriously altered. In Europe there are over 210 reference hospitals for children affected by CLP. Besides, about 190 different protocols were identified. So far no generic protocol was recognized by the medical community as a whole. This discrepancy can be explained by the fact that the aesthetic and functional result of a protocol cannot be accurately assessed before adulthood when the child's growth is complete. Patients presenting with CLP don't usually seem to present with any serious psychological or psychiatric pathology. Yet a close review of the related literature shows that disorders are actually described: behavioural troubles, anxiety, depression and esthetic dissatisfaction with one's face in children as well as in adults. The difficulty in interpreting these disorders lies in the various factors that are likely to impact this condition (family setting, importance and type of the cleft, surgery protocol, growth, social environment). A multidisciplinary examination of the face and a careful consideration of concerned families show the importance of the psychological context and the risks of a dis-harmonious structuring of the parents-child relationships on the child's development. The identification of the difficulties faced by these families, depending on the child's age, can be easily identified. Of course they can be identified at birth when the family first sees the child and later on at each stage of the

  8. The Impact of Early Infant Jaw-Orthopaedics on Early Speech Production in Toddlers with Unilateral Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Lohmander, Anette; Lillvik, Malin; Friede, Hans

    2004-01-01

    The purpose of study was to investigate the impact of pre-surgical Infant Orthopaedics (IO) on consonant production at 18 months of age in children with Unilateral Cleft Lip and Palate (UCLP) and to compare the consonant production to that of age-matched children without clefts. The first ten children in a consecutive series of 20 with UCLP…

  9. Spectral Analysis of Word-Initial Alveolar and Velar Plosives Produced by Iranian Children with Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Eshghi, Marziye; Zajac, David J.; Bijankhan, Mahmood; Shirazi, Mohsen

    2013-01-01

    Spectral moment analysis (SMA) was used to describe voiceless alveolar and velar stop-plosive production in Persian-speaking children with repaired cleft lip and palate (CLP). Participants included 11 children with bilateral CLP who were undergoing maxillary expansion and 20 children without any type of orofacial clefts. Four of the children with…

  10. Maternal effects in human cleft lip and palate.

    PubMed Central

    Bingle, G J; Niswander, J D

    1977-01-01

    To look for a persistent maternal effect of CL(P) and CP, 8,000 pedigrees were screened for half sibships, and data were pooled from 16 investigators. After excluding known genetic or cytogenetic diagnoses from the probands with facial clefts, a recurrence risk of .011 was obtained for CL(P) based upon 342 maternal half sibs. This was nearly identical to the risk of .014 based upon 210 paternal half sibs. CP proband frequencies of .004 for maternal half sibs and .009 for the paternal counterparts were also found. The lack of significant maternal effects in this data supports previously reported data from twin studies and from interracial crosses from Hawaii. The lack of maternal effect in human CL(P) and CP is in contrast to genetic data on clefting in mice. PMID:930925

  11. [Orofacial closure defects: cleft lip and palate. A literature review].

    PubMed

    Díaz Casado, G H; Díaz Grávalos, G J

    2013-01-01

    Orofacial clefts are a common problem that can lead to significant healthcare use and costs, as well as suffering on the part of the affected individuals and families. There are several theories explaining their origin, but some of the findings are inconsistent. The most accepted theories involve a major genetic basis that could be modified by the presence of external agents. Understanding the underlying causes could help to prevent its occurrence, an area in which the family physician can play an important role.

  12. Tooth ankylosis in deciduous teeth of children with cleft lip and/or palate.

    PubMed

    Aranha, Andreza Maria Fábio; Duque, Cristiane; Silva, Juliana Yassue Barbosa da; Carrara, Cleide Felício Carvalho de; Costa, Beatriz; Gomide, Marcia Ribeiro

    2004-01-01

    The present study aimed at evaluating the prevalence of tooth ankylosis in deciduous molars of Caucasian children with cleft lip and/or palate aged 5 to 12 years, of both genders. A total of 330 patients seen at the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo for routine treatment were clinically evaluated. The prevalence of ankylosis was analyzed in relation to gender, age range (5-7, 8-10, 11-12 years), type of cleft, affected tooth and arch. The total group showed a prevalence of 18%, with no statistical difference between genders and among types of cleft; ankylosis was more often in the mandibular arch, lower first molars and among children in the age ranges 8-10 and 11-12 years. The results agreed with those observed in the related literature for patients without clefts, pointing out the absence of influence of the cleft on the prevalence of ankylosis. This reinforces the importance of early diagnosis of this anomaly and of the treatment of choice, which are similar in patients with or without clefts.

  13. Fordyce Happiness Program and Happiness in Mothers of Children with a Cleft Lip and Palate

    PubMed Central

    Hemati, Zeinab; Mosavi Asl, Fatemeh-Sadat; Abbasi, Samira; Ghazavi, Zohre; Kiani, Davood

    2016-01-01

    Introduction: Facial deformities and aesthetic and functional anomalies in children may be a cause of real distress in families. Problems faced by parents in coping with a child’s anomaly can be upsetting and lead parents to exhibit over-severe behavior. The present study was conducted in order to study the effect of happiness program on the happiness of the mothers of children with a cleft lip and palate. Materials and Methods: In this semi-experimental study, 64 mothers of children with a cleft lip and palate enrolled by convenience random sampling were assigned to an intervention or control group based on a simple random sampling. Then, a program of happiness training was implemented consisting of 10 sessions of 2 hours each. A demographic questionnaire and the Oxford Happiness Questionnaire were completed prior to and 2 months after the last session of intervention. The data were analyzed using descriptive and analytical statistics, consisting of a paired t-test, independent t-test and Chi-square test using SPSS version 20. Results: The independent t-test indicated a significant difference in mean happiness score after training between the intervention and control groups (P<0.05). Moreover, the paired t-test indicated a significant difference in mean happiness score between before and after training in the intervention group, although the difference was not statistically significant for the control group (P>0.05). Conclusion: In light of the efficacy of happiness training on the promotion of happiness in the mothers of children with a cleft lip and palate, this model is recommended as a healthcare intervention to decrease stress in mothers following the birth of an infant with a cleft lip and palate. PMID:28008390

  14. Phonological Processes in the Speech of Jordanian Arabic Children with Cleft Lip and/or Palate

    ERIC Educational Resources Information Center

    Al-Tamimi, Feda Y.; Owais, Arwa I.; Khabour, Omar F.; Khamaiseh, Zaidan A.

    2011-01-01

    The controlled and free speech of 15 Jordanian male and female children with cleft lip and/or palate was analyzed to account for the different phonological processes exhibited. Study participants were divided into three main age groups, 4 years 2 months to 4 years 7 months, 5 years 3 months to 5 years 6 months, and 6 years 4 months to 6 years 6…

  15. 3D Printed Models of Cleft Palate Pathology for Surgical Education

    PubMed Central

    Lioufas, Peter A.; Quayle, Michelle R.; Leong, James C.

    2016-01-01

    Objective: To explore the potential viability and limitations of 3D printed models of children with cleft palate deformity. Background: The advantages of 3D printed replicas of normal anatomical specimens have previously been described. The creation of 3D prints displaying patient-specific anatomical pathology for surgical planning and interventions is an emerging field. Here we explored the possibility of taking rare pediatric radiographic data sets to create 3D prints for surgical education. Methods: Magnetic resonance imaging data of 2 children (8 and 14 months) were segmented, colored, and anonymized, and stereolothographic files were prepared for 3D printing on either multicolor plastic or powder 3D printers and multimaterial 3D printers. Results: Two models were deemed of sufficient quality and anatomical accuracy to print unamended. One data set was further manipulated digitally to artificially extend the length of the cleft. Thus, 3 models were printed: 1 incomplete soft-palate deformity, 1 incomplete anterior palate deformity, and 1 complete cleft palate. All had cleft lip deformity. The single-material 3D prints are of sufficient quality to accurately identify the nature and extent of the deformities. Multimaterial prints were subsequently created, which could be valuable in surgical training. Conclusion: Improvements in the quality and resolution of radiographic imaging combined with the advent of multicolor multiproperty printer technology will make it feasible in the near future to print 3D replicas in materials that mimic the mechanical properties and color of live human tissue making them potentially suitable for surgical training. PMID:27757345

  16. Indirect modulation of Shh signaling by Dlx5 affects the oral-nasal patterning of palate and rescues cleft palate in Msx1-null mice.

    PubMed

    Han, Jun; Mayo, Julie; Xu, Xun; Li, Jingyuan; Bringas, Pablo; Maas, Richard L; Rubenstein, John L R; Chai, Yang

    2009-12-01

    Cleft palate represents one of the most common congenital birth defects in human. During embryonic development, palatal shelves display oronasal (O-N) and anteroposterior polarity before the onset of fusion, but how the O-N pattern is established and how it relates to the expansion and fusion of the palatal shelves are unknown. Here we address these questions and show that O-N patterning is associated with the expansion and fusion of the palatal shelves and that Dlx5 is required for the O-N patterning of palatal mesenchyme. Loss of Dlx5 results in downregulation of Fgf7 and expanded Shh expression from the oral to the nasal side of the palatal shelf. This expanded Shh signaling is sufficient to restore palatal expansion and fusion in mice with compromised palatal mesenchymal cell proliferation, such as Msx1-null mutants. Exogenous Fgf7 inhibits Shh signaling and reverses the cranial neural crest (CNC) cell proliferation rescue in the Msx1/Dlx5 double knockout palatal mesenchyme. Thus, Dlx5-regulated Fgf7 signaling inhibits the expression of Shh, which in turn controls the fate of CNC cells through tissue-tissue interaction and plays a crucial role during palatogenesis. Our study shows that modulation of Shh signaling may be useful as a potential therapeutic approach for rescuing cleft palate.

  17. Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palate

    PubMed Central

    Aspinall, Andrea; Raj, Supriya; Jugessur, Anil; Marazita, Mary; Savarirayan, Ravi; Kilpatrick, Nicky

    2014-01-01

    Background The aetiology of isolated clefts of the lip and/or palate remains obscure. Unaffected family members are treated as if their genetic risks are equivalent and low. Given the number of genes associated with both clefting and dental anomalies, the hypothesis that such anomalies contribute to the cleft phenotype should be explored. Aim To describe the dental characteristics of parents of children with non-syndromic cleft lip ± palate. Design Unaffected parents of Australian children with a cleft of the lip ± palate underwent dental examination including radiographs, photographs, and impressions. Dental anomalies were identified. Results Data were available on 101 parents (49 males, 52 females). Fifty-one participants had at least one dental anomaly. Twelve (11.8%) individuals had congenital absence of teeth, with seven missing multiple teeth. The tooth most commonly missing was the upper right lateral incisor. Five subjects (4.9%) had microdontia (upper lateral incisor most commonly affected). Four subjects (4.0%) had supernumerary teeth. Enamel defects were present in 27 (26.7%) cases with the incisors (46.8%) followed by premolars (24.2%) most affected. Conclusions This study supports previous work suggesting that ‘unaffected’ parents of children with clefts of the lip ± palate may present with dental anomalies. PMID:24237197

  18. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome

    SciTech Connect

    Slaney, S.F.; Oldridge, M.; Wilkie, A.O.M.

    1996-05-01

    Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet. It is caused by specific missense substitutions involving adjacent amino acids (Ser252Trp or Pro253Arg) in the linker between the second and third extracellular immunoglobulin domains of fibroblast growth factor receptor 2 (FGFR2). We have developed a simple PCR assay for these mutations in genomic DNA, based on the creation of novel SfiI and BstUI restriction sites. Analysis of DNA from 70 unrelated patients with Apert syndrome showed that 45 had the Ser252Trp mutation and 25 had the Pro253Arg mutation. Phenotypic differences between these two groups of patients were investigated. Significant differences were found for severity of syndactyly and presence of cleft palate. The syndactyly was more severe with the Pro253Arg mutation, for both the hands and the feet. In contrast, cleft palate was significantly more common in the Ser252Trp patients. No convincing differences were found in the prevalence of other malformations associated with Apert syndrome. We conclude that, although the phenotype attributable to the two mutations is very similar, there are subtle differences. The opposite trends for severity of syndactyly and cleft palate in relation to the two mutations may relate to the varying patterns of temporal and tissue-specific expression of different fibroblast growth factors, the ligands for FGFR2. 54 refs., 5 figs., 3 tabs.

  19. Preparation of feeding obturators for infants with cleft lip and palate.

    PubMed

    Osuji, O O

    1995-01-01

    Clefts of the lip and palate are the commonest congenital craniofacial malformations in children. Sucking is impaired in infants born with complete clefts of the lip and palate. Feeding obturators improve feeding thereby contributing to weight gain and a thriving state of health, a prerequisite for surgical repair of the defects. A pediatric dentist may be required to fabricate the obturator. A method for constructing the appliance is presented. The severity of the clefts varies so much that stock trays are not always useful for the impression of the infant's maxillary arch. A preliminary impression is taken by introducing a thermoplastic impression material with the index and middle fingers as the tray. A model is produced from which a custom tray is constructed. The final maxillary impression is taken using an irreversible hydrocolloid with the child in an upright position. An obturator is constructed on the stone model by sprinkling soft autopolymerizing acrylic resin on the palate extending well into the mucobuccal fold area. The cured appliance is trimmed and polished prior to insertion.

  20. Prevalence of second premolar hypodontia in the Polish cleft lip and palate population

    PubMed Central

    Mikulewicz, Marcin; Ogiński, Tomasz; Gedrange, Thomas; Berniczei-Royko, Adam; Prussak, Elżbieta

    2014-01-01

    Background Cleft lip and/or palate is the most frequent congenital abnormality occurring in the craniofacial region and is often associated with numerous dental defects such as tooth agenesis, supernumerary teeth, microdontia, taurodontism, crown malformations, or delay in eruption. The prevalence of hypodontia in cleft-affected patients is much higher in comparison with a healthy population. The aim of this study was to evaluate the prevalence of second premolar hypodontia in patients with cleft lip and/or palate. Material/Methods We performed a retrospective, evaluation of panoramic radiographs and dental casts in the Department of Dentofacial Orthopeadics and Orthodontics, Wroclaw Medical University. Two independent observers evaluated the records of 469 patients with various types of clefts and analyzed dental casts and panoramic radiographs. Results 202 individuals met inclusion criteria. The sample comprised 120 UCLP patients, 38 BCLP patients, 28 CP patients, and 17 CLA patients. Hypodontia in the premolar region was observed in 39 individuals (19.3%). A total number of 58 second premolars were missing, of which 35 were maxillary second premolars (U5) and 23 were mandibular second premolars (L5). Conclusions Estimated hypodontia in the Polish CL/P sample was considerably higher than the hypodontia in permanent dentition reported for a European healthy population. The number of congenitally missing second premolars was higher in the maxillary arch than in the mandibular. PMID:24584216

  1. Anterior maxillary segmental distraction in the treatment of severe maxillary hypoplasia secondary to cleft lip and palate

    PubMed Central

    Li, Hongliang; Dai, Jiewen; Si, Jiawen; Zhang, Jianfei; Wang, Minjiao; Shen, Steve Guofang; Yu, Hongbo

    2015-01-01

    Anterior maxillary segmental distraction (AMSD) is an effective surgical procedure in the treatment of maxillary hypoplasia secondary to cleft lip and palate. Its unique advantage of preserving velopharyngeal function makes this procedure widely applied. In this study, the application of AMSD was described and its long-term stability was explored. Eight patients with severe maxillary hypoplasia secondary to CLP were included in this study. They were treated with AMSD using rigid external distraction (RED) device. Cephalometric analysis was performed twice at three time points for evaluation: before surgery (T1), after distraction (T2), and 2 years after treatment (T3). One-way analysis of variance was used to assess the differences statistically. All the distractions completed smoothly, and maxilla was distracted efficiently. The value of SNA, NA-FH, Ptm-A, U1-PP, overjet and PP (ANS-PNS) increased significantly after the AMSD procedure (P < 0.05), with the mean overjet increased by 14.28 mm. However, comparison of cephalometric analysis between T2 and T3 showed no significant difference (P > 0.05). Changes of palatopharyngeal depth and soft palatal length were insignificant. AMSD with RED device provided an effective way to correct maxillary hypoplasia secondary to CLP, extended the palatal and arch length, avoided damage on velopharyngeal closure function and reduced the relapse rate. It is a promising and valuable technique in this potentially complicated procedure. PMID:26629107

  2. [Risk factors for teeth aplasia and hypoplasia in cleft lip and palate children].

    PubMed

    Korolenkova, M V; Starikova, N V; Ageeva, L V

    2016-01-01

    The aim of the study was to assess the significance of environmental risk factors for teeth aplasia and hypoplasia in cleft lip and palate children. Two hundred and forty-seven cleft lip and palate (CLP) children were enrolled in the study including 105 (42.5%) with bilateral CLP and 57.5% with unilateral CLP. The mean age was 11.2±4.9 years. Teeth condition was assessed clinically and radiologically. The impact of risk factors for teeth anomalies was analyzed by retrospective data obtained from computer database (absence of preoperative orthopedic treatment, palatal defects after primary palatoplasty and type of primary procedures). Surgical trauma by early periosteoplasty (at the age of 3-4 months), excessive scarring and tissue traction due to absence of early orthopedic treatment and palatal defect were associated with significantly higher incidence of incisors hypoplasia (both developmental enamel defects and microdentia) and aplasia of central incisors not seen in the other study subgroups. Incisors aplasia and hypoplasia in CLP patients do not always have disembryogenic origin but may depend on external environmental factors, including surgical trauma.

  3. Comparative Evaluation of Prevalence of Upper Cervical Vertebrae Anomalies in Cleft Lip/Palate Patients: A Retrospective Study

    PubMed Central

    Datana, Sanjeev; Kumar, Prasanna; Kumar Roy, Supriya; Londhe, Sanjay

    2014-01-01

    ABSTRACT% Purpose: The patients with cleft lip and palate have a higher risk of cervical vertebrae anomalies than do patients in general population. The aim of present study was to determine the prevalence of various upper cervical spine anomalies in different type of clefts. Procedures: Lateral cephalograms of 128 patients (66 males, 62 females) with cleft lip and palate, and 125 (60 males, 65 females) non syndromic patients without cleft lip and palate were selected at random from archive. Cephalograms of the patients were traced and the diagnosis of any cervical vertebrae anomaly was noted. Anomalies were categorized as either: posterior arch deficiency or fusions. Main findings: Prevalence of cervical vertebrae anomalies in the c lef t group was 20. 3% while it was 6.4% in the control group. Further cervical vertebrae anomalies were 16.6% in the CPO group, 19.1% in the BCLP group, and 22.2% in the UCLP group. Conclusion: A higher prevalence of cervical vertebrae anomalies was observed in cleft lip and palate patients. The prevalenc e obser ved is 3 times more in clef t group than c ontrol group. How to cite this article: Datana S, Bhalla A, Kumar P, Roy SK, Londhe S. Comparative Evaluation of Prevalence of Upper Cervical Vertebrae Anomalies in Cleft Lip/Palate Patients: A Retrospective Study. Int J Clin Pediatr Dent 2014;7(3):168-171. PMID:25709295

  4. A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3.

    PubMed

    Pierpont, J W; St Jacques, D; Seaver, L H; Erickson, R P

    1995-03-01

    An unusual family with Waardenburg syndrome type 1 (WSI), cleft lip (palate), and Hirschsprung disease is not linked to the PAX 3 gene since there is an obligate crossover which has occurred between PAX 3 DNA markers and the disorder in this family. This family may also have anticipation of the WSI traits as the proband's grandmother is nonpenetrant, his mother has dystopia canthorum, and severe cleft lip (palate), while the proband has dystopia canthorum, severe cleft lip (palate), and Hirschsprung disease. Thus, a locus other than PAX 3 is implicated in this Waardenburg-like syndrome with Hirschsprung disease and cleft lip (palate).

  5. Involvement of apoptotic cell death and cell cycle perturbation in retinoic acid-induced cleft palate in mice

    SciTech Connect

    Okano, Junko . E-mail: okajun@anat1.med.kyoto-u.ac.jp; Suzuki, Shigehiko; Shiota, Kohei

    2007-05-15

    Retinoic acid (RA), a metabolite of vitamin A, plays a key role in a variety of biological processes and is essential for normal embryonic development. On the other hand, exogenous RA could cause cleft palate in offspring when it is given to pregnant animals at either the early or late phases of palatogenesis, but the pathogenetic mechanism of cleft palate caused by excess RA remains not fully elucidated. The aim of the present study was to investigate the effects of excess of RA on early palatogenesis in mouse fetuses and analyze the teratogenic mechanism, especially at the stage prior to palatal shelf elevation. We gave all-trans RA (100 mg/kg) orally to E11.5 ICR pregnant mice and observed the changes occurring in the palatal shelves of their fetuses. It was found that apoptotic cell death increased not only in the epithelium of the palatal shelves but also in the tongue primordium, which might affect tongue withdrawal movement during palatogenesis and impair the horizontal elevation of palatal shelves. In addition, RA was found to prevent the G{sub 1}/S progression of palatal mesenchymal cells through upregulation of p21 {sup Cip1}, leading to Rb hypophospholylation. Thus, RA appears to cause G{sub 1} arrest in palatal mesenchymal cells in a similar manner as in various cancer and embryonic cells. It is likely that apoptotic cell death and cell cycle disruption are involved in cleft palate formation induced by RA.

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

    SciTech Connect

    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, 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.

  7. 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.

  8. International confederation for cleft lip and palate and related craniofacial anomalies task force report: palatoplasty in the speaking individual with unrepaired cleft palate.

    PubMed

    Sommerlad, Brian C

    2014-11-01

    Introduction : The benefits or otherwise of late palate repair in older children or adults are uncertain. The outcomes, particularly without appropriate speech therapy, are often disappointing. The issue is of special importance in the poorer countries where these patients are most commonly seen and where limited capacity and facilities may have to be rationed. Method : A task force was set up to report back to the International Congress in Orlando in May 2013. The chairman and some members were nominated by the organizers and further members were added during the discussion process. Some of the members had considerable experience of late palate repair. The task force compiled a report after 9 months of e-mail correspondence. The report includes reports of some previously unpublished studies. A summary of the report was presented at Cleft 2013 in Orlando. Conclusions : There was a general consensus that late palate repair is of benefit for many patients and that, even if normal speech is not attained, outcomes are positive. Outcomes depend on the age of the patient (the younger the better), on the skill of the surgeon and, ideally, on the availability of appropriate speech therapy. A protocol for a prospective international multi-center study is proposed.

  9. The Evolution of Human Genetic Studies of Cleft Lip and Cleft Palate

    PubMed Central

    Marazita, Mary L.

    2013-01-01

    Orofacial clefts (OFCs)—primarily cleft lip and cleft palate—are among the most common birth defects in all populations worldwide, and have notable population, ethnicity, and gender differences in birth prevalence. Interest in these birth defects goes back centuries, as does formal scientific interest; scientists often used OFCs as examples or evidence during paradigm shifts in human genetics, and have also used virtually every new method of human genetic analysis to deepen our understanding of OFC. This review traces the evolution of human genetic investigations of OFC, highlights the specific insights gained about OFC through the years, and culminates in a review of recent key OFC genetic findings resulting from the powerful tools of the genomics era. Notably, OFC represents a major success for genome-wide approaches, and the field is poised for further breakthroughs in the near future. PMID:22703175

  10. Behavioral Signs of (Central) Auditory Processing Disorder in Children With Nonsyndromic Cleft Lip and/or Palate: A Parental Questionnaire Approach.

    PubMed

    Ma, Xiaoran; McPherson, Bradley; Ma, Lian

    2016-03-01

    Objective Children with nonsyndromic cleft lip and/or palate often have a high prevalence of middle ear dysfunction. However, there are also indications that they may have a higher prevalence of (central) auditory processing disorder. This study used Fisher's Auditory Problems Checklist for caregivers to determine whether children with nonsyndromic cleft lip and/or palate have potentially more auditory processing difficulties compared with craniofacially normal children. Methods Caregivers of 147 school-aged children with nonsyndromic cleft lip and/or palate were recruited for the study. This group was divided into three subgroups: cleft lip, cleft palate, and cleft lip and palate. Caregivers of 60 craniofacially normal children were recruited as a control group. Hearing health tests were conducted to evaluate peripheral hearing. Caregivers of children who passed this assessment battery completed Fisher's Auditory Problems Checklist, which contains 25 questions related to behaviors linked to (central) auditory processing disorder. Results Children with cleft palate showed the lowest scores on the Fisher's Auditory Problems Checklist questionnaire, consistent with a higher index of suspicion for (central) auditory processing disorder. There was a significant difference in the manifestation of (central) auditory processing disorder-linked behaviors between the cleft palate and the control groups. The most common behaviors reported in the nonsyndromic cleft lip and/or palate group were short attention span and reduced learning motivation, along with hearing difficulties in noise. Conclusion A higher occurrence of (central) auditory processing disorder-linked behaviors were found in children with nonsyndromic cleft lip and/or palate, particularly cleft palate. Auditory processing abilities should not be ignored in children with nonsyndromic cleft lip and/or palate, and it is necessary to consider assessment tests for (central) auditory processing disorder when an

  11. Double-layered reconstruction of the nasal floor in complete cleft deformity of the primary palate using superfluous lip tissue.

    PubMed

    Park, Young-Wook; Kwon, Kwang-Jun; Kim, Min-Keun

    2015-12-01

    After cleft lip repair, many patients suffer from nasolabial fistulas, asymmetrical nasal floor, or an indistinct nostril sill, as well as intraoral wound dehiscence and subsequent scar contracture of surgical wounds leading to vestibular stenosis. For successful primary nasolabial repair of complete cleft deformity of the primary palate, cleft surgeons need special care in reconstructing the sound nasal floor. Especially when the cleft gap is wide or when any type of nasoalveolar molding therapy was not performed, three-dimensional reconstruction of the nasal floor is critical for a balanced nasal shape. In this study, the author describes an effective method for reconstructing a double-layered nasal floor using two mucosal flaps from both sides of the fissured upper lip. This is a report of six patients with unilateral or bilateral complete cleft of the primary palate with a detailed description of the surgical technique and a literature review.

  12. Corpus callosum shape is altered in individuals with nonsyndromic cleft lip and palate.

    PubMed

    Weinberg, Seth M; Parsons, Trish E; Fogel, Melissa R; Walter, Courtney P; Conrad, Amy L; Nopoulos, Peg

    2013-05-01

    Individuals with nonsyndromic cleft lip with or without cleft palate (CL/P) have altered brain structure compared with healthy controls. Preliminary evidence suggests that the corpus callosum may be dysmorphic in orofacial clefting; however, this midline brain structure has not been systematically assessed in this population. The goal of the present study was to carry out a morphometric assessment of the corpus callosum and its relationship to cognitive performance in a well-characterized patient cohort with orofacial cleft. Midline brain images were obtained from previously collected MRI scans of 24 CL/P subjects and 40-adult-male controls. Eight landmarks on the corpus callosum were digitized on each image and their x,y coordinate locations saved. A geometric morphometrics analysis was applied to the landmark coordinate data to test for shape differences across groups. The relationship between corpus callosum shape and IQ was explored with nonparametric correlation coefficients. Results revealed significant differences in mean corpus callosum shape between CL/P cases and controls (P = 0.029). The CL/P corpus callosum was characterized by increased overall convexity resulting from a superior and posterior displacement. Within CL/P cases, increased corpus callosum shape dysmorphology was moderately correlated with reduced performance IQ (r = 0.546). These results provide additional evidence that midline brain changes may be an important part of the orofacial cleft phenotype.

  13. Had prevalence of cleft lip and palate differed during the Iran-Iraq war?

    PubMed

    Jahanbin, Arezoo; Kianifar, Hamidreza; Yaghoubi-Al, Zahra; Malekian, Arash; Keikhaee, Bijan; Hasanzadeh, Nadia; Ezzati, Atefeh

    2013-05-01

    Cleft lip and palate are among the most common congenital defects with multifactorial etiology, and maternal stress may have a role in the development of the malformation; thus, the aim of this study was to explore the role of war on cleft lip and palate (CL/P) prevalence.In this study, records of 101,435 newborn infants delivered in the teaching hospitals of Mashhad and Ahwaz during wartime (1982-1987) and recent years (2005-2010) were reviewed. Samples were analyzed for prevalence of anomaly in both cities at 2 time intervals as well as some related factors; χ and t tests were used for data analysis.Results showed the incidences of CL/P in Mashhad during 1982 to 1987 and 2005 to 2010 were 2 and 2.2 per 1000 live births, respectively; however, its incidence in Ahwaz was 1 per 1000 during wartime and 0.7 per 1000 live births for recent years.Despite significant differences that were found in the prevalence of both cities in recent years (P = 0.001), no significant differences were observed during wartime (P = 0.28).The results revealed that CL/P was more prevalent in both cities, but in contrast to Ahwaz, cleft lip was more prevalent than isolated cleft palate in Mashhad, and significant differences were found between both cities (P = 0.007).The study concluded that the prevalence of CL/P in Ahwaz decreased after the war. However, in Mashhad, its prevalence, which was not affected during wartime, gradually increased. Thus, genetic research may be necessary to establish a genetic predisposition in northeast Iran.

  14. Premaxillary Repositioning in the Severe Form of Bilateral Cleft Lip and Palate.

    PubMed

    Koh, Kyung S; Han, Woo Yeon; Jeong, Woo Shik; Oh, Tae Suk; Kwon, Sun Man; Choi, Jong Woo

    2016-09-01

    Severe forms of bilateral cleft lip and palate remain a challenging issue. Although nasoalveolar molding dramatically improves overall treatment success, the position of the premaxilla often remains dislocated. The authors attempted to relocate the malpositioned premaxilla into the correct position to obtain the correct three-dimensional (3D) maxillary arch structure and growth. Eight patients with severe bilateral cleft lip and palate were treated with premaxillary osteotomy for premaxilla repositioning. The position of the premaxilla was measured directly using cephalometry. Two raters including orthodontists evaluated the 3D (anteroposterior, transverse, and sagittal) outcomes. Regarding the long-term effects of premaxillary repositioning on midfacial growth, 3D computed tomography scan data were used, including the measurement of the SNA, SNB, and ANB angles according to the time period (T0: preoperative; T1: immediate postoperative; T2: long-term postoperative). All bilateral cleft lips and palates were satisfactorily repaired without any complications, including any premaxillary vascular compromise, nonunion, and occlusal instability. The average visual analog scale scores (0-5) of the anteroposterior, vertical, and transverse dimensions were 3.9, 3.7, and 3.2, respectively. Regarding the effect of premaxillary repositioning on midfacial hypoplasia, the change in the ANB between T1 and T2 was not significant, implying that premaxillary repositioning did not affect the long-term harmony between the maxilla and mandible (ANB of T2-T1: P = 0.1016) based on interim growth data at the time of follow-up and study completion. Premaxillary repositioning effectively corrected the malpositioned premaxilla and repaired the accompanying wide alveolar cleft, achieving successful restoration of maxillary arch coordination. In addition, premaxillary osteotomy after 8 years of age does not seem to cause significant maxillary retrusion.

  15. Submucous Clefts

    MedlinePlus

    ... that a child is evaluated for a submucous cleft palate is abnormal nasal speech. Other symptoms may include persistent middle ear disease and feeding/swallowing difficulties. A submucous cleft palate may be identified by the presence of a ...

  16. 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.

  17. Velopharyngeal function assessment in patients with cleft palate: perceptual speech assessment versus nasopharyngoscopy.

    PubMed

    Ma, Li; Shi, Bing; Li, Yang; Zheng, Qian

    2013-07-01

    There is no doubt that perceptual speech assessment and instrumental examination could provide different diagnostic information on patients with cleft palate (CP), but not all patients simultaneously need the 2 examinations. So the purposes of this study were to explore a simple and effective evaluation method to assess velopharyngeal function and to investigate speech traits that affect the diagnosis of velopharyngeal function in patients with CP. The investigators implemented a retrospective study, and 247 postoperative patients with CP were selected, including 155 boys and 92 girls, with a mean (SD) age of 13 years and 2 months (7 years and 7 months). All of these patients were assessed by perceptual speech evaluation and nasopharyngoscopy after surgery, and the result was divided into velopharyngeal closure (VPC), velopharyngeal insufficiency, and marginal VPC. The number of diagnostic consistency patients was 170 (VPC, 51 patients; velopharyngeal insufficiency, 115 patients; marginal VPC, 4 patients), and the consistent ratio was 68.83%. There was no significant difference between perceptual speech assessment and nasopharyngoscopy. Furthermore, the difference in distribution of hypernasality between the consistent group and the inconsistent group was significant. In addition, the correlation analysis indicated that surgical age, hypernasality, nasal emission, and compensatory articulation were correlated with the velopharyngeal function (P < 0.05). In conclusion, perceptual speech assessment could make a correct diagnosis in the absence of instrumental examination. The severity of hypernasality might affect the diagnosis of the velopharyngeal function. Much more attention should be paid to the surgical age, the alteration of hypernasality, nasal emission, and compensatory articulation during CP therapy.

  18. Acute liver failure following cleft palate repair: a case of therapeutic acetaminophen toxicity.

    PubMed

    Iorio, Matthew L; Cheerharan, Meera; Kaufman, Stuart S; Reece-Stremtan, Sarah; Boyajian, Michael

    2013-11-01

    Background : Acetaminophen is a widely used analgesic and antipyretic agent in the pediatric population. While the hepatotoxic effects of the drug have been well recognized in cases of acute overdose and chronic supratherapeutic doses, the toxic effects of acetaminophen are rarely documented in cases where therapeutic guidelines are followed. Case : An 8-month-old boy underwent cleft palate repair and placement of bilateral myringotomy tubes. His anesthetic course was uneventful, consisting of maintenance with desflurane and fentanyl. He received acetaminophen for routine postoperative pain management and was tolerating liquids and discharged home on postoperative day 1. On day 3, the child was profoundly lethargic with multiple episodes of emesis and was taken to the emergency department. He suffered a 45-second tonic-clonic seizure in transport to the regional children's medical center, and initial laboratory results demonstrated acute hepatitis with AST 24,424 U/L, ALT 12,885 U/L, total bilirubin 3.1 mg/dL, and a serum acetaminophen level of 83 μg/mL. Aggressive supportive measures including blood products and periprocedural fresh frozen plasma, piperacillin/tazobactam, and intravenous infusions of N-acetylcysteine, sodium phenylacetate and sodium benzoate, carnitine, and citrulline were administered. His metabolic acidosis and acute hepatitis began to correct by day 4, and he was discharged home without further surgical intervention on day 15. Conclusion : Although acetaminophen is an effective and commonly used analgesic in pediatric practice, hepatotoxicity is a potentially devastating complication. This report challenges the appropriateness of existing guidelines for acetaminophen administration and emphasizes the importance of close follow-up and hydration after even relatively minor surgery.

  19. 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

  20. Factors affecting articulation skills in children with velocardiofacial syndrome and children with cleft palate or velopharyngeal dysfunction: A preliminary report

    PubMed Central

    Baylis, Adriane L.; Munson, Benjamin; Moller, Karlind T.

    2010-01-01

    Objective To examine the influence of speech perception, cognition, and implicit phonological learning on articulation skills of children with Velocardiofacial syndrome (VCFS) and children with cleft palate or velopharyngeal dysfunction (VPD). Design Cross-sectional group experimental design. Participants 8 children with VCFS and 5 children with non-syndromic cleft palate or VPD. Methods and Measures All children participated in a phonetic inventory task, speech perception task, implicit priming nonword repetition task, conversational sample, nonverbal intelligence test, and hearing screening. Speech tasks were scored for percentage of phonemes correctly produced. Group differences and relations among measures were examined using nonparametric statistics. Results Children in the VCFS group demonstrated significantly poorer articulation skills and lower standard scores of nonverbal intelligence compared to the children with cleft palate or VPD. There were no significant group differences in speech perception skills. For the implicit priming task, both groups of children were more accurate in producing primed nonwords than unprimed nonwords. Nonverbal intelligence and severity of velopharyngeal inadequacy for speech were correlated with articulation skills. Conclusions In this study, children with VCFS had poorer articulation skills compared to children with cleft palate or VPD. Articulation difficulties seen in the children with VCFS did not appear to be associated with speech perception skills or the ability to learn new phonological representations. Future research should continue to examine relationships between articulation, cognition, and velopharyngeal dysfunction in a larger sample of children with cleft palate and VCFS. PMID:18333642

  1. The prevalence of specific dental anomalies in a group of Saudi cleft lip and palate patients

    PubMed Central

    Al-Kharboush, Ghada H.; Al-Balkhi, Khalid M.; Al-Moammar, Khalid

    2015-01-01

    Objective The aims of this study were to investigate the prevalence and distribution of dental anomalies in a group of Saudi subjects with cleft lip and palate (CLP), to examine potential sex-based associations of these anomalies, and to compare dental anomalies in Saudi subjects with CLP with published data from other population groups. Design This retrospective study involved the examination of pre-treatment records obtained from three CLP centers in Riyadh, Saudi Arabia, in February and March 2010. The pre-treatment records of 184 subjects with cleft lip and palate were identified and included in this study. Pre-treatment maxillary occlusal radiographs of the cleft region, panoramic radiographs, and orthodontic study models of subjects with CLP were analyzed for dental anomalies. Results Orthopantomographs and occlusal radiographs may not be reliable for the accurate evaluation of root malformation anomalies. A total of 265 dental anomalies were observed in the 184 study subjects. Hypodontia was observed most commonly (66.8%), followed by microdontia (45.6%), intra-oral ectopic eruption (12.5%), supernumerary teeth (12.5%), intra-nasal ectopic eruption (3.2), and macrodontia (3.2%). No gender difference in the prevalence of these anomalies was observed. Conclusions Dental anomalies were common in Saudi subjects with CLP type. This will complicate the health care required for the CL/P subjects. This study was conducted to epidemiologically explore the prevalence of dental anomalies among Saudi Arabian subjects with CLP. PMID:26082573

  2. Cleft lip and palate and related factors: A 10 years study in university hospitalised patients at Mashhad — Iran

    PubMed Central

    Noorollahian, Morteza; Nematy, Mohsen; Dolatian, Atiyeh; Ghesmati, Hengameh; Akhlaghi, Saeed; Khademi, Gholam Reza

    2015-01-01

    Background: Oral-facial clefts including cleft lip and palate are the most common congenital malformations of the head and neck. Environmental factors such as maternal hormonal disorders, use of psychiatric medications, vitamin and folic acid deficiency, hypoxia, cigarette smoking and maternal obesity and overweight can affect the incidence of these disorders. In Iran, one of the associated problems is a lack of accurate statistics regarding the present status of the patients, which can cause a disturbance in the health programmes of Ministry of Health and Medical Education. The aim of this study was to report the status of 398 cases of cleft lip and palate in Sheikh and Imam Reza Hospitals of Mashhad over a 10-year period. Materials and Methods: This retrospective descriptive study was performed using data collection method and included the evaluation of the recorded files and completing the data forms. In this study, the file records of 398 patients referring to Mashhad Sheikh and Imam Reza (P.U.H) Hospitals were studied, from the beginning of 2002 to the end of 2011; the obtained data from the files were collected and classified. Results: The highest frequency was related to cleft palate alone (40.7%); frequencies were lower regarding the cleft lip and palate and cleft lip alone (34.41% and 24.87%, respectively). Approximately, half of the patients were from rural areas of the city and had articulation disorders. Most of the patients were the first-born children of the family and their parents were consanguineously married; about one-third of the patients had a family history of the disease. Conclusion: According to the results of the present study, cleft lip is more frequent in males and cleft palate is more prevalent in females; the obtained results are consistent with the global statistics. PMID:26712297

  3. Repair of bilateral clefts of lip, alveolus and palate. Part 1: A refined method for the lip-adhesion in bilateral cleft lip and palate patients.

    PubMed

    Bitter, K

    2001-02-01

    The protruding premaxilla represents the most severe problem in the surgical closure of a bilateral cleft lip, alveolus and palate (BCLP). In principle there are two methods to overcome this obstacle: (1) preliminary lip adhesion and (2) presurgical repositioning with intraoral devices. According to the various degrees of premaxillary protrusion, sometimes adhesion alone is sufficient, if the surgical technique is unlikely to break down. In this paper a refined adhesion method is presented, withstanding traction to the wound margins and concomitantly enables lip and nose repairs in a single second operation. For patients with severe premaxillary protrusion, presurgical use of a Latham appliance achieves conditions for safe lip adhesion as above. Both treatment methods are outlined.

  4. Repair of a submucous cleft palate by W-pushback and levator repositioning without incision to the nasal mucosa.

    PubMed

    Hwang, Kun

    2012-03-01

    The author created an innovative method of W-pushback and levator repositioning without having to make an incision to the nasal mucosa for submucous cleft palate repair.The W-shaped mucoperiosteal flap is outlined where the 2 peaks of W are the alveolar processes of both canine teeth and the midpoint of W is the anterior limit of the cleft notch of the hard palate. A short incision, medial to and behind the maxillary tuberosity and curved forward onto the palate and extended forward just medial to the alveolar process, is joined by a second incision from the apex of the cleft to the region of the canine tooth. The W-shaped mucoperiosteal flap is raised until the midline notch of the hard palate is exposed. The nasal mucosa and abnormally inserted levator veli palatini muscle to the posterior border of the hard palate bone are detached. By leaving the nasal mucosa intact, the detached levator veli palatini muscle is approximated at the midline and so the zona pellucida is obliterated. The cleft uvulas are cut in half and closed. The approximated W-flap is joined to the small anterior flap by 1 or more sutures (the W-pushback).Three patients were operated on with this technique without serious complications.The author believes that this method can make the levator sling and increase the length of the soft palate without making an incision to the nasal mucosa.

  5. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate

    PubMed Central

    Jezewski, P; Vieira, A; Nishimura, C; Ludwig, B; Johnson, M; O'Brien, S; Daack-Hirsch, S; Schultz, R; Weber, A; Nepomucena, B; Romitti, P; Christensen, K; Orioli, I; Castilla, E; Machida, J; Natsume, N; Murray, J

    2003-01-01

    MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate. Support for this comes from human linkage and linkage disequilibrium studies, chromosomal deletions resulting in haploinsufficiency, a large family with a stop codon mutation that includes clefting as a phenotype, and the Msx1 phenotype in a knockout mouse. This report describes a population based scan for mutations encompassing the sense and antisense transcribed sequence of MSX1 (two exons, one intron). We compare the completed genomic sequence of MSX1 to the mouse Msx1 sequence to identify non-coding homology regions, and sequence highly conserved elements. The samples studied were drawn from a panethnic collection including people of European, Asian, and native South American ancestry. The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. These included missense mutations in conserved amino acids and point mutations in conserved regions not identified in any of 500 controls sequenced. Five different missense mutations in seven unrelated subjects with clefting are described. Evolutionary sequence comparisons of all known Msx1 orthologues placed the amino acid substitutions in context. Four rare mutations were found in non-coding regions that are highly conserved and disrupt probable regulatory regions. In addition, a panel of 18 population specific polymorphic variants were identified that will be useful in future haplotype analyses of MSX1. MSX1 mutations are found in 2% of cases of clefting and should be considered for genetic counselling implications, particularly in those families in which autosomal dominant inheritance patterns or dental anomalies appear to be cosegregating with the clefting phenotype. PMID:12807959

  6. Periodontal and microbiological parameters in children and adolescents with cleft lip and /or palate.

    PubMed

    Perdikogianni, Hariklia; Papaioannou, William; Nakou, Melachrini; Oulis, Constantine; Papagiannoulis, Liza

    2009-11-01

    Objective. To evaluate the oral hygiene and the periodontal condition of children and adolescents with cleft lip and/or palate (CLP). Methods. Forty-one children and adolescents, 4-18 years, with CLP and 41 normal controls participated. Clinical parameters examined were the plaque and gingival index and Community Periodontal Index of Treatment Needs. For teeth in the cleft area, probing pocket depth, bleeding on probing, and tooth mobility were also evaluated. Samples of subgingival plaque were collected from 21 randomly selected patients of each group. Results. The CLP group had generally poorer oral hygiene (plaque index significantly higher) compared with the control. Children in both groups presented mild degree of gingivitis. Teeth in the cleft area had significantly higher pocket probing depth and tooth mobility, compared with corresponding teeth in the control group. The microbial analysis did not reveal significant differences in the composition of the subgingival microbiota between groups. Teeth in the cleft presented higher isolation frequencies and mean percentages of periodontopathic bacteria. Conclusion. Youngsters with CLP showed poor oral hygiene and worse periodontal condition, compared with controls. The above results advocate their participation in an intensive preventive dental programme that should start at an early age, possibly decreasing the risk of future periodontal disease.

  7. Solitary median maxillary central incisor syndrome associated with unique cleft palate: a rare case report.

    PubMed

    Holla, Goda; Ramakrishna, Yeluri; Holla, Anup; Munshi, Autar Krishen

    2014-01-01

    Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly that affects 1:50,000 live births. SMMCI syndrome is characterized by the presence of a single central incisor located on the maxillary midline in both primary and permanent dentitions. It may occur as an isolated finding or in association with developmental defects and systemic involvement. Congenital anomalies associated with SMMCI syndrome can include short stature, mild forms of deviation in craniofacial morphology, mild to severe intellectual disability, congenital heart disease, and cleft lip and/or palate. This report describes a clinical case of a 7-year-old girl with SMMCI syndrome--in addition to bilateral residual cleft and associated nasal regurgitation--that was treated with a removable maxillary obturator.

  8. An unusual type of sucking habit in a patient with cleft lip and palate.

    PubMed

    Satyaprasad, Savitha

    2009-01-01

    Digit sucking, a form of non-nutritive sucking, is a habit of concern to specialist in various fields such as psychiatrist, psychologist, pediatricians, pediatric dentists, orthodontist, speech pathologist and plastic surgeon. The habits have harmful unbalanced pressures to be born by the immature highly malleable alveolar ridges. Sucking behaviors have long been recognized to affect occlusion and dental arch characteristics. As early as 1870s, Campbell and Chandler recognized that prolonged finger or thumb sucking habits had deleterious effects on certain occlusal traits including anterior open bite, increased over jet and class II canine and molar relationships. However, little is known about digit sucking habit and its effect in a cleft lip and palate child as there is no literature till now reported on the digit sucking in a cleft lip patient.

  9. Embryonic rationale for the primary correction of classical congenital clefts of the lip and palate.

    PubMed Central

    Millard, D. R.

    1994-01-01

    Primary correction of congenital clefts of the lip and palate should be designed to carry the interrupted embryonic process to normal completion. This is best accomplished by maxillary alignment with presurgical orthodontics, stabilisation of the maxillary alignment, obliteration of the alveolar cleft and construction of the nasal floor with periosteoplasty. This allows early construction of the lip by rotation and advancement and correction of the nose with columella lengthening, alar cartilage positioning and alar base cinching. This can be accomplished before school age. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 Figure 11 Figure 12 Figure 13 Figure 14 Figure 15 Figure 16 Figure 17 Figure 18 Figure 19 Figure 20 PMID:8017808

  10. Assessment of nasalance and nasality in patients with a repaired cleft palate.

    PubMed

    Sinko, Klaus; Gruber, Maike; Jagsch, Reinhold; Roesner, Imme; Baumann, Arnulf; Wutzl, Arno; Denk-Linnert, Doris-Maria

    2017-03-15

    In patients with a repaired cleft palate, nasality is typically diagnosed by speech language pathologists. In addition, there are various instruments to objectively diagnose nasalance. To explore the potential of nasalance measurements after cleft palate repair by NasalView(®), we correlated perceptual nasality and instrumentally measured nasalance of eight speech items and determined the relationship between sensitivity and specificity of the nasalance measures by receiver-operating characteristics (ROC) analyses and AUC (area under the curve) computation for each single test item and specific item groups. We recruited patients with a primarily repaired cleft palate receiving speech therapy during follow-up. During a single day visit, perceptive and instrumental assessments were obtained in 36 patients and analyzed. The individual perceptual nasality was assigned to one of four categories; the corresponding instrumental nasalance measures for the eight specific speech items were expressed on a metric scale (1-100). With reference to the perceptual diagnoses, we observed 3 nasal and one oral test item with high sensitivity. However, the specificity of the nasality indicating measures was rather low. The four best speech items with the highest sensitivity provided scores ranging from 96.43 to 100%, while the averaged sensitivity of all eight items was below 90%. We conclude that perceptive evaluation of nasality remains state of the art. For clinical follow-up, instrumental nasalance assessment can objectively document subtle changes by analysis of four speech items only. Further studies are warranted to determine the applicability of instrumental nasalance measures in the clinical routine, using discriminative items only.

  11. Evolution of Obstructive Sleep Apnea in Infants with Cleft Palate and Micrognathia

    PubMed Central

    Cielo, Christopher M.; Taylor, Jesse A.; Vossough, Arastoo; Radcliffe, Jerilynn; Thomas, Allison; Bradford, Ruth; Lioy, Janet; Tapia, Ignacio E.; Assadsangabi, Reza; Shults, Justine; Marcus, Carole L.

    2016-01-01

    Study Objectives: Children with craniofacial anomalies are a heterogeneous group at high risk for obstructive sleep apnea (OSA). However, the prevalence and structural predictors of OSA in this population are unknown. We hypothesized that infants with micrognathia would have more significant OSA than those with isolated cleft palate ± cleft lip (ICP), and those with ICP would have more significant OSA than controls. We postulated that OSA severity would correlate with reduced mandibular size, neurodevelopmental scores, and growth. Methods: Prospective cohort study. 15 infants with ICP, 19 with micrognathia, and 9 controls were recruited for polysomnograms, neurodevelopmental testing, cephalometrics (ICP and micrognathia groups) at baseline and a follow-up at 6 mo. Results: Baseline apnea-hypopnea index (AHI) [median (range)] of the micrognathia group [20.1 events/h (0.8, 54.7)] was greater than ICP [3.2 (0.3, 30.7)] or controls [3.1 (0.5, 23.3)] (p = 0.001). Polysomnographic findings were similar between ICP and controls. Controls had a greater AHI than previously reported in the literature. Cephalometric measures of both midface hypoplasia and micrognathia correlated with OSA severity. Neurodevelopment was similar among groups. OSA improved with growth in participants with ICP and postoperatively in infants with micrognathia. Conclusions: Micrognathia, but not ICP, was associated with more significant OSA compared to controls. Both midface and mandibular hypoplasia contribute to OSA in these populations. OSA improved after surgical correction in most infants with micrognathia, and improved without intervention before palate repair in infants with ICP. Citation: Cielo CM, Taylor JA, Vossough A, Radcliffe J, Thomas A, Bradford R, Lioy J, Tapia IE, Assadsangabi R, Shults J, Marcus CL. Evolution of obstructive sleep apnea in infants with cleft palate and micrognathia. J Clin Sleep Med 2016;12(7):979–987. PMID:27092700

  12. Nasolabial appearance in adults with repaired unilateral cleft lip and palate: Relation between professional and lay rating and patients' satisfaction.

    PubMed

    Mani, Maria R; Semb, Gunvor; Andlin-Sobocki, Anna

    2010-11-01

    The aim of the current study was to evaluate the relation between professional and lay rating and patients' satisfaction with nasolabial appearance in adults with repaired unilateral cleft lip and palate (UCLP). A cross-sectional population study, long-term follow-up with controls matched for age and sex was performed. All patients with complete UCLP born between 1960 and 1987 (n = 109), treated at Uppsala University Hospital, Sweden were invited and 83 (76%) agreed to participate. Follow-up was 20-47 years after primary lip surgery. An age- and sex-matched control group of 65 people were evaluated in the same way. Ratings from professional and lay panels of cropped photographs using a 5 point categorical scale for 4 features of the nasolabial appearance and the satisfaction with appearance questionnaire (SWA) for self-assessment were used. Professional and lay ratings correlated positively but the professionals consistently rated nasolabial appearance as better than did the lay panel (p < 0.001). Self-assessment of nasolabial appearance with the SWA (by patients and controls) did not correlate with the judgement of lay or professional panels. Judgement of nasolabial appearance in adults with repaired UCLP differs among professionals, lay people, and patients. This should be considered when deciding about secondary surgical treatment of signs of clefts.

  13. Removable Partial Denture in a Cleft Lip and Palate Patient: A Case Report

    PubMed Central

    Özdemir, Eylem

    2008-01-01

    This clinical report described the oral rehabilitation of a cleft lip and palate patient with removable partial denture. Although implant-supported fixed treatment was presented as part of the optimum treatment plan to achieve the best result, the patient declined this option due to the significant financial burden. Persons with a congenital or craniofacial defect are unique, and oral problems must be evaluated individually to the most ideal treatment. The changes in appearance, function, and psychological wellbeing have an enormous impact on patients' personal lives and are rewarding for the maxillofacial prosthodontist providing this care. PMID:18955808

  14. A modified procedure for velopharyngeal sphincteroplasty in primary cleft palate repair and secondary velopharyngeal incompetence treatment and its preliminary results.

    PubMed

    Cheng, Ningxin; Zhao, Min; Qi, Kemin; Deng, Hui; Fang, Zeng; Song, Ruyao

    2006-01-01

    During cleft repair, velopharyngeal sphincter reconstruction is still a challenge to plastic surgeons. To improve the surgical treatment for cleft palate and secondary velopharyngeal incompetence (VPI), a carefully designed modified procedure for primary palatoplasty and secondary VPI was presented. Fifty-six patients (48 for primary cleft palate repair and eight for secondary VPI of previously repaired clefts) underwent this procedure from 1988 to 2001. The modified procedure is a combination of the tunnelled palatopharyngeus myomucosal flap for dynamic circular reconstruction of the pharyngeal element of the velopharyngeal sphincter and the double-reversing Z-plasty with levator velo palatini muscles reposition in the velar element of the sphincter. The satisfactory velopharyngeal competence (complete velopharyngeal closure and marginal velopharyngeal closure) was achieved in 23 of 25 patients with primary cleft palate repair examined by nasendoscopy and the nasality, speech articulation and intelligibility are also assessed in 25 primary cleft palate repaired patients with 92% satisfactory result (normal speech and speech with mild VPI) in single word test and 88% in continuous speech evaluation. Based on our experience, we believe that this modified procedure is a reasonable choice for primary cleft repair and secondary VPI treatment because it is in accord with normal physiology and anatomy of the velopharyngeal sphincter, can lengthen the soft palate, decrease the enlarged velopharynx, augment the posterior pharyngeal wall, and enhance the relationship between the muscles of velopharyngeal sphincter which results in a dynamic neo-sphincter in palatopharyngoplasty. Further study of the procedure is needed. The theoretical basis, operative highlights, velopharyngeal function, advantages and disadvantages of the modified procedure were discussed.

  15. Simplified design and precautionary measures in fabrication of a feeding obturator for a newborn with cleft lip and palate.

    PubMed

    Dubey, Alok; Mujoo, Sheetal; Khandelwal, Vishal; Nayak, Prathibha Anand

    2013-06-16

    The immediate problem to be addressed in a new born with cleft lip and palate is the interference of feeding. Here we present a case of cleft lip and palate for which a feeding obturator was made to facilitate feeding till the defect could be surgically repaired. The design was modified by placing orthodontic wire on the acrylic plate for attaching the ties of mouth mask. Different precautionary measures undertaken while making impression for infant have also been described. Feeding appliance improved the sucking ability of the infant. The attachment of mouth-mask ties help in easy retrieval of the obturator intraorally in case of airway obstruction.

  16. Simplified design and precautionary measures in fabrication of a feeding obturator for a newborn with cleft lip and palate

    PubMed Central

    Dubey, Alok; Mujoo, Sheetal; Khandelwal, Vishal; Nayak, Prathibha Anand

    2013-01-01

    The immediate problem to be addressed in a new born with cleft lip and palate is the interference of feeding. Here we present a case of cleft lip and palate for which a feeding obturator was made to facilitate feeding till the defect could be surgically repaired. The design was modified by placing orthodontic wire on the acrylic plate for attaching the ties of mouth mask. Different precautionary measures undertaken while making impression for infant have also been described. Feeding appliance improved the sucking ability of the infant. The attachment of mouth-mask ties help in easy retrieval of the obturator intraorally in case of airway obstruction. PMID:23774712

  17. Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

    PubMed Central

    Breckpot, Jeroen; Anderlid, Britt-Marie; Alanay, Yasemin; Blyth, Moira; Brahimi, Afane; Duban-Bedu, Bénédicte; Gozé, Odile; Firth, Helen; Yakicier, Mustafa Cengiz; Hens, Greet; Rayyan, Maissa; Legius, Eric; Vermeesch, Joris Robert; Devriendt, Koen

    2016-01-01

    We report on seven novel patients with a submicroscopic 22q12 deletion. The common phenotype constitutes a contiguous gene deletion syndrome on chromosome 22q12.1q12.2, featuring NF2-related schwannoma of the vestibular nerve, corpus callosum agenesis and palatal defects. Combining our results with the literature, eight patients are recorded with palatal defects in association with haploinsufficiency of 22q12.1, including the MN1 gene. These observations, together with the mouse expression data and the finding of craniofacial malformations including cleft palate in a Mn1-knockout mouse model, suggest that this gene is a candidate gene for cleft palate in humans. PMID:25944382

  18. An Analysis of the Frame-Content Theory in Babble of 9-Month-Old Babies with Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Stout, Gwendolyn; Hardin-Jones, Mary; Chapman, Kathy L.

    2011-01-01

    The aim of this study was to examine the consonant-vowel co-occurrence patterns predicted by the Frame-Content theory in 16 nine-month-old babies with unrepaired cleft palate ([plus or minus]cleft lip) and 16 age-matched non-cleft babies. Babble from these babies was phonetically transcribed and grouped according to the intrasyllabic predictions…

  19. 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 Central

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

    2015-01-01

    Introduction 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. Methods 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. Results 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). Conclusion 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. PMID:26237311

  20. Nasal Airway Evaluation After Le Fort I Osteotomy Combined With Septoplasty in Patients With Cleft Lip and Palate.

    PubMed

    Wang, Zhongying; Wang, Peihua; Zhang, Yixin; Shen, Guofang

    2017-01-01

    Septal deviation constitutes an important component of both esthetic deformity and airway compromise in patients with cleft lip and palate (CLP). The posterior parts of the nasal septum presented greater deviation than the anterior parts in patients with complete unilateral CLP. Le Fort I down-fracture provides better access to the nasal septum than intranasal incision during rhinoplasty, especially to the posterior part. This study objectively and subjectively evaluated the nasal function after Le Fort I osteotomy combined with septoplasty in patients with complete unilateral CLP. Twenty-three patients with complete unilateral CLP presenting with nasal obstruction and septum deviation were included (12-combined surgery group; 11-control group). Types of septum deviation in the patients were analyzed. Presurgical and 6-month-postsurgical acoustic rhinometry (AR) was performed for objective assessment; and the nasal obstruction symptom evaluation (NOSE) scale was used for subjective assessment. The authors used SPSS to compare the baseline and follow-up results. Acoustic rhinometry assessment showed improvements in the nasal minimal cross-sectional area (MCA), nasal resistance, and nasal volumes in 12 patients who received combined surgery. For the 2 groups, significant improvements in nasal breathing were documented (by NOSE scores) at 6 months after surgery. Simultaneous management of the maxillary dysplasia (Le Fort I osteotomy) and intranasal pathology (septoplasty) were effective for relief of nasal airway obstruction in patients with complete unilateral CLP. The combination of objective (AR) and subjective (NOSE scale) assessments allowed better evaluation of the nasal function.

  1. SEARCH FOR GENOMIC ALTERATIONS IN MONOZYGOTIC TWINS DISCORDANT FOR CLEFT LIP AND/OR PALATE

    PubMed Central

    Kimani, Jane W.; Yoshiura, Koh-ichiro; Shi, Min; Jugessur, Astanand; Moretti-Ferreira, Danilo; Christensen, Kaare; Murray, Jeffrey C.

    2010-01-01

    Phenotypically discordant monozygotic twins offer the possibility of gene discovery through delineation of molecular abnormalities in one member of the twin pair. One proposed mechanism of discordance is postzygotically occurring genomic alterations resulting from mitotic recombination and other somatic changes. Detection of altered genomic fragments can reveal candidate gene loci that can be verified through additional analyses. We investigated this hypothesis using array comparative genomic hybridization; the 50K and 250K Affymetrix GeneChip® SNP arrays and an Illumina custom array consisting of 1,536 SNPs, to scan for genomic alterations in a sample of monozygotic twin pairs with discordant cleft lip and/or palate phenotypes. Paired analysis for deletions, amplifications and loss of heterozygosity, along with sequence verification of SNPs with discordant genotype calls did not reveal any genomic discordance between twin pairs in lymphocyte DNA samples. Our results demonstrate that postzygotic genomic alterations are not a common cause of monozygotic twin discordance for isolated cleft lip and/or palate. However, rare or balanced genomic alterations, tissue-specific events and small aberrations beyond the detection level of our experimental approach cannot be ruled out. The stability of genomes we observed in our study samples also suggests that detection of discordant events in other monozygotic twin pairs would be remarkable and of potential disease significance. PMID:19803774

  2. Velopharyngeal function from the age of three to eight years in cleft palate patients.

    PubMed

    Pulkkinen, J; Haapanen, M L; Paaso, M; Laitinen, J; Ranta, R

    2001-01-01

    The purpose of this investigation was to study changes of velopharyngeal function between the ages of 3 and 8 years. The subjects were 65 (30 girls and 35 boys) Finnish-speaking non-syndromic children with isolated cleft palate (CP, n = 35) and with unilateral cleft lip and palate (UCLP, n = 30) operated primarily at the age of 1.0-2.0 years. Before the age of 8 years, 16 children required velopharyngoplasty (VPP, ad modum Hoenig). The children were followed up for speech at the age of 3, 6 and 8 years. The perceptual speech characteristics nasal air emission, hypernasality, weakness of pressure consonants and compensatory articulations were registered. Indications for a velopharyngeal flap (by VPP) were identified on the basis of perceptual speech characteristics and confirmed by instrumental examinations. The results indicated that the method and timing of primary palatoplasty and sex did not correlate with the quality of velopharyngeal function. It was good both in children treated conservatively or with VPP at the age of 8 years. The children with a flap required speech therapy significantly more often than other children. No child with VPP and only 12% of the children without VPP had simultaneous nasal air emissions and hypernasality. Compensatory articulation was completely eliminated and weakness of pressure consonants was diagnosed only in 1 child without VPP. The CP children required significantly more often a velopharyngeal flap than the UCLP children. In conclusion, the CP and UCLP children develop a similar velopharyngeal function but in a different way.

  3. Candidate gene association studies in syndromic and non-syndromic cleft lip and palate

    SciTech Connect

    Daack-Hirsch, S.; Basart, A.; Frischmeyer, P.

    1994-09-01

    Using ongoing case ascertainment through a birth defects registry, we have collected 219 nuclear families with non-syndromic cleft lip and/or palate and 111 families with a collection of syndromic forms. Syndromic cases include 24 with recognized forms and 72 with unrecognized syndromes. Candidate gene studies as well as genome-wide searches for evidence of microdeletions and isodisomy are currently being carried out. Candidate gene association studies, to date, have made use of PCR-based polymorphisms for TGFA, MSX1, CLPG13 (a CA repeat associated with a human homologue of a locus that results in craniofacial dysmorphogenesis in the mouse) and an STRP found in a Van der Woude syndrome microdeletion. Control tetranucleotide repeats, which insure that population-based differences are not responsible for any observed associations, are also tested. Studies of the syndromic cases have included the same list of candidate genes searching for evidence of microdeletions and a genome-wide search using tri- and tetranucleotide polymorphic markers to search for isodisomy or structural rearrangements. Significant associations have previously been identified for TGFA, and, in this report, identified for MSX1 and nonsyndromic cleft palate only (p = 0.04, uncorrected). Preliminary results of the genome-wide scan for isodisomy has returned no true positives and there has been no evidence for microdeletion cases.

  4. An Overview of Indices Used to Measure Treatment Effectiveness in Patients with Cleft Lip and Palate

    PubMed Central

    HAQUE, Sanjida; ALAM, Mohammad Khursheed; ARSHAD, Anas Imran

    2015-01-01

    In the contemporary era, the demand for orthodontic treatment is ever rising. Orthodontic treatment duration can range from a year to a few years. Our aim is to assess the available techniques of categorising treatment effectiveness in patients with cleft lip and palate (CLP) and to study their effect on improvement of treatment outcomes. The electronic databases including Medline-PUBMED, Science Direct, and ISI Web of Knowledge were searched from 1987 to 2013, and 40 311 relevant articles were found. Of these, we identified 22 articles including original articles as well as literature reviews. The different parameters and indices that are applied to speed-up orthodontic treatment outcomes in patients with CLP were identified as the GOSLON Yardstick, 5-year-old index, EUROCRAN index, Huddart Bodenham system, modified Huddart Bodenham system, GOAL Yardstick and, Bauru-Bilateral Cleft Lip and Palate Yardstick. This overview can create better awareness regarding the uses, advantages, and disadvantages of the different indices. It can enable better assessment and provide the impetus needed for a sustained upgrade in the standards of care for CLP in daily orthodontics. PMID:25892945

  5. Deficient and delayed primary palatal fusion and mesenchymal bridge formation in cleft lip-liable strains of mice.

    PubMed

    Wang, K Y; Juriloff, D M; Diewert, V M

    1995-01-01

    During mammalian primary palate formation, the facial prominences enlarge around the nasal pit, fuse and then merge to give rise to the tissue of the upper lip and premaxillary region. The mechanisms involved in successful primary palate formation and how they are affected in the cleft lip genotype remain poorly understood. The purpose of this study was to compare morphometrically internal development and growth of the primary palate in five different strains of mice. Two of the strains, BALB/cByJ, and C57BL/6J, have normal primary palate development, and three of the strains, A/J, A/WySn, and CL/Fr, have stable frequencies of cleft lip associated with genotype. In the present study, frequencies of 4, 23, and 24%, respectively, were observed on day 13. For palatal growth analysis, embryos were collected on days 10 and 11, staged by number of tail somites (TS), and the heads were photographed and serially sectioned for measurement of primary palate components. The heights of the epithelial seam and the mesenchyme bridge between the facial prominences were measured on serial sections and areas of contact were calculated. The position or depth of the maxillary prominence was determined from the number of frontal sections from its tip to the rostral end of the nasal fin. Analysis of measurements showed that in cleft lip strains enlargement of the epithelial seam and replacement of epithelia by a mesenchymal bridge were both delayed relative to somite stages. Measurements from day 11 embryos with complete failure of contact were excluded from the growth analyses. The mesenchymal bridge formed at 12--13 TS in noncleft strains, 14 TS in the A/J strains with higher cleft lip frequency, and 15--17 TS in A/WySn and CL/Fr strains with higher cleft lip frequency. Forward growth of the maxillary prominence was highly correlated with the primary palate measurements and mesenchymal bridge formation in all strains. In both cleft and noncleft strains, the primitive choanae open at

  6. Prevalence and Parental Risk Factors for Speech Disability Associated with Cleft Palate in Chinese Children—A National Survey

    PubMed Central

    Yun, Chunfeng; Wang, Zhenjie; He, Ping; Guo, Chao; Chen, Gong; Zheng, Xiaoying

    2016-01-01

    Although the prevalence of oral clefts in China is among the highest worldwide, little is known about the prevalence of speech disability associated with cleft palate in Chinese children. The data for this study were collected from the Second China National Sample Survey on Disability, and identification of speech disability associated with cleft palate was based on consensus manuals. Logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs). A weighted number of 112,070 disabled children affected by cleft palate were identified, yielding a prevalence of 3.45 per 10,000 children (95% CI: 3.19–3.71). A history of speech disability in the mother (OR = 20.266, 95% CI 5.788–70.959, p < 0.0001), older paternal child-bearing age (OR = 1.061, 95% CI 1.017–1.108, p = 0.0065, per year increase in age), and lower parental education (maternal: OR = 3.424, 95% CI 1.082–10.837, p = 0.0363; paternal: OR = 2.923, 95% CI 1.245–6.866, p = 0.0138) were strongly associated with risk of speech disability associated with cleft palate in the offspring. Our results showed that maternal speech disability, older paternal child-bearing age, and lower levels of parental education were independent risk factors for speech disability associated with cleft palate for children in China. These findings may have important implications for health disparities and prevention. PMID:27886104

  7. Nasal symptoms and clinical findings in adult patients treated for unilateral cleft lip and palate.

    PubMed

    Morén, Staffan; Mani, Maria; Lundberg, Kristina; Holmström, Mats

    2013-10-01

    The aim of the study was to investigate self-experienced nasal symptoms among adults treated for UCLP and the association to clinical findings, and to evaluate whether palate closure in one-stage or two-stages affected the symptoms or clinical findings. All people with UCLP born between 1960-1987, treated at Uppsala University Hospital, were considered for participation in this cross-sectional population study with long-term follow-up. Eighty-three patients (76% participation rate) participated, a mean of 37 years after the first operation. Fifty-two patients were treated with one-stage palate closure and 31 with two-stage palate closure. An age-matched group of 67 non-cleft controls completed the same study protocol, which included a questionnaire regarding nasal symptoms, nasal inspection, anterior rhinoscopy, and nasal endoscopy. Patients reported a higher frequency of nasal symptoms compared with the control group, e.g., nasal obstruction (81% compared with 60%) and mouth breathing (20% compared with 5%). Patients also rated their nasal symptoms as having a more negative impact on their daily life and physical activities than controls. Nasal examination revealed higher frequencies of nasal deformities among patients. No positive correlation was found between nasal symptoms and severity of findings at nasal examination. No differences were identified between patients treated with one-stage and two-stage palate closure regarding symptoms or nasal findings. Adult patients treated for UCLP suffer from more nasal symptoms than controls. However, symptoms are not associated with findings at clinical nasal examination or method of palate closure.

  8. 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.

  9. [Evaluation of the timing of orthodontic arch expansion and graft in cleft lip and palate].

    PubMed

    Chang, Le; Wang, Yingnan; Liu, Hongyan

    2016-04-01

    Maxillary transverse growth is inhibited by congenital cleft, early surgical scar strain, and oppression of lipmuscles in patients with cleft lip and palate. Clinical manifestations have shown severely constricted maxilla, insufficientmaxillary width, mismatch of upper and lower dental arches, and crossbite. Alveolar bone graft and arch expansion can effectively correct the deficiency in maxillary width. This paper discusses the timing and success rate of alveolar bone graft, as wellas the relationship between alveolar bone graft and arch expansion. Secondary alveolar bone graft is optimally performed beforepermanent canine eruption, especially when the teeth have formed between half and three quarters of their roots. Rapid maxillaryexpansion prior to alveolar bone graft is beneficial because this process increases the gap of the cleft, expands bone graft, andreduces the difficulty. However, the stability of this process remains controversial. Small-scale studies have reported that rapidmaxillary expansion after alveolar bone graft can open the midpalatal suture without bone graft loss. Slow maxillary expansioncan provide continuous light forces to reconstruct the bone. However, these studies are coordinated with fixed orthodontictreatment. Further research is necessary to determine the effects of maxillary expansion on long-term stability of teeth.

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

    PubMed Central

    Othman, Siti Adibah; Aidil Koay, Noor Airin

    2016-01-01

    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. PMID:27507713

  11. Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry.

    PubMed

    do Rego Borges, Andrea; Sá, Jamile; Hoshi, Ryuichi; Viena, Camila Sane; Mariano, Lorena C; de Castro Veiga, Patricia; Medrado, Alena Peixoto; Machado, Renato Assis; de Aquino, Sibele Nascimento; Messetti, Ana Camila; Spritz, Richard A; Coletta, Ricardo D; Reis, Silvia R A

    2015-10-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL ± P) is the most common orofacial birth defect, exhibiting variable prevalence around the world, often attributed to ethnic and environmental differences. Linkage analyses and genome-wide association studies have identified several genomic susceptibility regions for NSCL ± P, mostly in European-derived or Asian populations. Genetic predisposition to NSCL ± P is ethnicity-dependent, and the genetic basis of susceptibility to NSCL ± P likely varies among populations. The population of Brazil is highly admixed, with highly variable ancestry; thus, the genetic determinants of NSCL ± P susceptibility may be quite different. This study tested association of 8 single-nucleotide polymorphisms (SNPs), previously identified by genome-wide studies in other populations, with NSCL ± P in a Brazilian population with high African ancestry. SNPs rs560426, rs642961, rs1530300, rs987525, rs3758249, rs7078160, rs17085106, and rs13041247 were genotyped in 293 Brazilian patients with NSCL ± P and 352 unaffected Brazilian controls. Each sample was also genotyped for 40 biallelic short insertion/deletion polymorphic markers to characterize genetic ancestry. The average African ancestry background was 31.1% for the NSCL ± P group and 36.7% for the control group. After adjustment for ancestry and multiple testing, the minor alleles of rs3758249 (OR: 1.58, 95% CI: 1.25-2.01, P = 0.0001) and rs7078160 (OR: 1.59, 95% CI: 1.21-2.07, P = 0.0002) were significantly associated with risk of NSCL ± P. Polymorphisms located in IRF6 (rs642961) and 8q24 (rs1530300 and rs987525) showed marginal associations in this Brazilian population with high African ancestry. These results indicate that rs3758249 at 9q22 and rs7078160 at 10q25.3 represent risk loci for NSCL ± P in the Brazilian population with high African ancestry.

  12. CRISPLD2 VARIANTS INCLUDING A C471T SILENT MUTATION MAY CONTRIBUTE TO NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE

    PubMed Central

    Letra, Ariadne; Menezes, Renato; Cooper, Margaret E.; Fonseca, Renata F.; Tropp, Stephen; Govil, Manika; Granjeiro, Jose M.; Imoehl, Sandra R.; Mansilla, M. Adela; Murray, Jeffrey C.; Castilla, Eduardo E.; Orioli, Iêda M.; Czeizel, Andrew E.; Ma, Lian; Chiquet, Brett T.; Student, Dental; Hecht, Jacqueline T.; Vieira, Alexandre R.; Marazita, Mary L.

    2010-01-01

    Objective To assess association between nonsyndromic (NS) cleft lip with or without cleft palate (CL(P)) and SNPs within the CRISPLD2 gene (cysteine-rich secretory protein LCCL domain containing 2). Design Four SNPs within the CRISPLD2 gene domain (rs1546124, rs8061351, rs2326398, rs4783099) were genotyped to test for association via family-based association methods. Participants 5,826 individuals from 1,331 families in which one or more family member is affected with CL(P). Results Evidence of association was seen for SNP rs1546124 in USA (p=0.02) and Brazilian (p=0.04) Caucasian cohorts. We also found association of SNP rs1546124 with cleft palate alone (CP) in South Americans (Guatemala and ECLAMC) and combined Hispanics (Guatemala, ECLAMC and Texas Hispanics) (p=0.03 for both comparisons), and with both cleft lip with cleft palate (CLP; p=0.04) and CL(P) (p=0.02) in North Americans. Strong evidence of association was found for SNP rs2326398 with CP in Asian populations (p=0.003) and with CL(P) in Hispanics (p=0.03), and also with bilateral CL(P) in the Brazilians (p=0.004). In the Brazilians, SNP rs8061351 showed association with cleft subgroups incomplete CL(P) (p=0.004), and unilateral incomplete CL(P) (p=0.003). Prediction of SNP functionality revealed that the C allele in the C471T silent mutation (overrepresented in cases with CL(P) presents two putative exonic splicing enhancer motifs and creates a binding site AP-2 alpha, a transcription factor involved in craniofacial development. Conclusions Our results support the hypothesis that variants in the CRISPLD2 gene may be involved in the etiology of NS CL(P). PMID:20815724

  13. Longitudinal Comparison of Early Speech and Language Milestones in Children with Cleft Palate: A Comparison of US and Slovak Children

    ERIC Educational Resources Information Center

    Scherer, Nancy J.; Oravkinova, Zuzana; McBee, Matthew T.

    2013-01-01

    The purpose of this study was to compare early speech and language development of children with and without cleft lip and/or palate (CLP) in the US and Slovakia from 6 to 24 months of age. Thirty-two children from the US (eight with CLP and eight noncleft) and Slovakia (eight with CLP and eight noncleft) participated in this study. The children…

  14. Same Noses, Different Nasalance Scores: Data from Normal Subjects and Cleft Palate Speakers for Three Systems for Nasalance Analysis

    ERIC Educational Resources Information Center

    Bressmann, Tim; Klaiman, Paula; Fischbach, Simone

    2006-01-01

    Nasalance scores from the Nasometer, the NasalView and the OroNasal System were compared. The data was collected from 50 normal participants and 19 hypernasal patients with cleft palate. The Nasometer had the lowest nasalance scores for the non-nasal Zoo Passage and that the OroNasal System had the lowest nasalance scores for the Nasal Sentences.…

  15. A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation.

    PubMed

    Tütüncüoglu, S; Ozkinay, F; Genel, F; Uran, N; Ozgür, T

    1996-04-01

    In this report, a case with corpus callosum dysgenesis, infantile spasm, microcephaly, psychomotor retardation, exophthalmos, cleft lip-palate and abnormal EEG findings is presented. His parents are first-degree relatives. We could not fully match the findings of our patient with the criteria of any syndrome published to date.

  16. Cleft lip/palate and CDH1/E‐cadherin mutations in families with hereditary diffuse gastric cancer

    PubMed Central

    Frebourg, T; Oliveira, C; Hochain, P; Karam, R; Manouvrier, S; Graziadio, C; Vekemans, M; Hartmann, A; Baert‐Desurmont, S; Alexandre, C; Dumoulin, S Lejeune; Marroni, C; Martin, C; Castedo, S; Lovett, M; Winston, J; Machado, J C; Attié, T; Jabs, E W; Cai, J; Pellerin, Ph; Triboulet, J P; Scotte, M; Pessot, F Le; Hedouin, A; Carneiro, F; Blayau, M; Seruca, R

    2006-01-01

    We report the association of CDH1/E‐cadherin mutations with cleft lip, with or without cleft palate (CLP), in two families with hereditary diffuse gastric cancer (HDGC). In each family, the CDH1 mutation was a splicing mutation generating aberrant transcripts with an in‐frame deletion, removing the extracellular cadherin repeat domains involved in cell‐cell adhesion. Such transcripts might encode mutant proteins with trans‐dominant negative effects. We found that CDH1 is highly expressed at 4 and 5 weeks in the frontonasal prominence, and at 6 weeks in the lateral and medial nasal prominences of human embryos, and is therefore expressed during the critical stages of lip and palate development. These findings suggest that alteration of the E‐cadherin pathway can contribute to human clefting. PMID:15831593

  17. Development and Validation of the Quality-of-Life Adolescent Cleft Questionnaire in Patients With Cleft Lip and Palate

    PubMed Central

    Piombino, Pasquale; Ruggiero, Federica; Dell’Aversana Orabona, Giovanni; Scopelliti, Domenico; Bianchi, Alberto; De Simone, Federica; Carnevale, Nina; Brancati, Federica; Iengo, Maurizio; Grassia, Maria Gabriella; Cataldo, Rosanna; Califano, Luigi

    2014-01-01

    Abstract Only a few reports in the literature have described the use of specific instruments for assessing the quality of life in adolescents and young adults with cleft lip and palate (CLP). This condition markedly affects their lifestyle, even after surgical treatment. In the present study, we aimed to develop a quality-of-life assessment tool specifically designed for such patients with CLP. Our multidisciplinary team created a questionnaire focused on the physical, psychological, and social satisfaction of adolescents and young adults with CLP, which was adapted from 3 dimensions of the 36-item Short-Form Health Survey. The questionnaire was administered to a randomized sample of 40 adolescents and young adults (aged 16–24 years) with CLP who had completed treatment protocols and 40 (aged 16–24 years) who were not affected by CLP. The statistical results stated that the questionnaire had good reliability and validity; the Cronbach α coefficient was found to be 0.944. Moreover, factorial analysis confirmed the presence of 3 subscales that were the fundamental components of this questionnaire, which is consistent with the areas theoretically proposed and from which the items were designed and selected. Thus, we validated our novel questionnaire that was administered in the present study and proved its consistency. However, further investigations on a larger population would be useful to confirm these findings. PMID:25010834

  18. Measuring and Comparing the Cost-Effectiveness of Surgical Care Delivery in Low-Resource Settings: Cleft Lip and Palate as a Model.

    PubMed

    Hackenberg, Berit; Ramos, Margarita S; Campbell, Alexander; Resch, Stephen; Finlayson, Samuel R G; Sarma, Hiteswar; Howaldt, Hans-Peter; Caterson, E J

    2015-06-01

    Cleft lip and palate (CLP) care is the longest sustained global effort in humanitarian surgical care. However, the relative cost-effectiveness of surgical delivery approaches remains largely unknown. We assessed the cost-effectiveness of two strategies of CLP surgical care delivery in low resource settings: medical mission and comprehensive care center. We evaluated the medical records and costs for 17 India-based medical missions and a Comprehensive Cleft Care Center in Guwahati, India, from Operation Smile, a humanitarian nongovernmental organization. Age, sex, diagnosis, and procedures were extracted and cost/Disability-Adjusted Life Year (DALY) averted was calculated using a provider's perspective. The disability weights for CLP from the Global Burden of Disease (GBD) 2010 update were used as the reference case. Sensitivity analysis was performed using various disability weights, age-weighting, discounting, and cost perspective. The medical missions treated 3503 patients for first-time cleft procedures and averted 6.00 DALYs per intervention with a cost-effectiveness of $247.42/DALY. The care center cohort included 2778 patients with first-time operations for CLP and averted a mean of 5.96 DALYs per intervention with a cost-effectiveness of $189.81/DALY. The Incremental Cost-Effectiveness Ratio (ICER) of choosing medical mission over care center is $462.55. The care center provides cleft care with a higher cost-effectiveness, although both models are highly cost-effective in India, in accordance with WHO guidelines. Compared to other global health interventions, cleft care is very cost-effective and investment in cleft surgery might be realistic and achievable in similar resource-constrained environments.

  19. Occurrence of cleft-palate and alteration of Tgf-β(3) expression and the mechanisms leading to palatal fusion in mice following dietary folic-acid deficiency.

    PubMed

    Maldonado, Estela; Murillo, Jorge; Barrio, Carmen; del Río, Aurora; Pérez-Miguelsanz, Juliana; López-Gordillo, Yamila; Partearroyo, Teresa; Paradas, Irene; Maestro, Carmen; Martínez-Sanz, Elena; Varela-Moreiras, Gregorio; Martínez-Álvarez, Concepción

    2011-01-01

    Folic acid (FA) is essential for numerous bodily functions. Its decrease during pregnancy has been associated with an increased risk of congenital malformations in the progeny. The relationship between FA deficiency and the appearance of cleft palate (CP) is controversial, and little information exists on a possible effect of FA on palate development. We investigated the effect of a 2-8 weeks' induced FA deficiency in female mice on the development of CP in their progeny as well as the mechanisms leading to palatal fusion, i.e. cell proliferation, cell death, and palatal-shelf adhesion and fusion. We showed that an 8 weeks' maternal FA deficiency caused complete CP in the fetuses although a 2 weeks' maternal FA deficiency was enough to alter all the mechanisms analyzed. Since transforming growth factor-β(3) (TGF-β(3)) is crucial for palatal fusion and since most of the mechanisms impaired by FA deficiency were also observed in the palates of Tgf-β(3)null mutant mice, we investigated the presence of TGF-β(3) mRNA, its protein and phospho-SMAD2 in FA-deficient (FAD) mouse palates. Our results evidenced a large reduction in Tgf-β(3) expression in palates of embryos of dams fed an FAD diet for 8 weeks; Tgf-β(3) expression was less reduced in palates of embryos of dams fed an FAD diet for 2 weeks. Addition of TGF-β(3) to palatal-shelf cultures of embryos of dams fed an FAD diet for 2 weeks normalized all the altered mechanisms. Thus, an insufficient folate status may be a risk factor for the development of CP in mice, and exogenous TGF-β(3) compensates this deficit in vitro.

  20. [Quantitative diagnosis of hypernasality in cleft lip and palate patients by computerized nasal quality assessment].

    PubMed

    Bressmann, T; Sader, R; Awan, S; Busch, R; Zeilhofer, H F; Horch, H H

    1999-05-01

    In patients with cleft lip and palate (CLP), the assessment of velopharyngeal morphology and function and the quantitative analysis of perceptual consequences of velopharyngeal insufficiency are of major importance regarding the effective planning of velopharyngoplasties for speech improvement. The NasalView, a new instrument for the objective assessment of rhinophonia, is presented. The NasalView measures nasalance, the relative sound pressure level of the nasal signal in speech, expressed as a percentage. In order to evaluate the effectiveness of the computerised measurement of nasalance, 156 patients with surgically treated CLP were examined. The NasalView differentiated with high sensitivity and specificity between patients with normal nasal resonance and patients with varying degrees of hypernasality. To illustrate the importance of the NasalView for making the decision for a velopharyngoplasty, a single case is presented.

  1. [Cleft lip and palate. The semantic conception for informatics. The Cleftor program].

    PubMed

    Rivoalan, F; Poupard, B

    1988-01-01

    The authors present the creation of a computed programme (Cleftor) which examines the terminology used in the pathology of cleft palates. The malformed anatomy is simplified and superimposed with embryological data. A classification which includes all possible malformation is used. Surgical treatment had also advanced, gestures practised in the past are reviewed and defined to give authors a common basis for discussion when it is time to appreciate results concerning such or such methods or techniques. Thanks to a strict control of facts; the programme gives another idea of the treatment and above all, of the results from that can be called chronic pathology. The Cleftor programme is also a means of communication creating perhaps a supplementary chance of success for a treatment that everyone admits to and considers as always difficult.

  2. [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.

  3. 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

  4. Risk of Oral Clefts (Cleft Lip and/or Palate) in Infants Born to Mothers Taking Topamax (Topiramate)

    MedlinePlus

    ... of oral clefts. Q8. Does FDA have post marketing adverse event reports of oral clefts with topiramate? ... based on adverse reaction data from investigational or marketing experience or studies in humans, BUT the potential ...

  5. International confederation for cleft lip and palate and related craniofacial anomalies task force report: beyond eurocleft.

    PubMed

    Semb, Gunvor

    2014-11-01

    The assigned objective for the Task Force Beyond Eurocleft was "to make recommendations for initiations of local and/or participation in multi-national cleft outcome studies and consist of individuals from the European experience with cleft outcome studies (Scandcleft, Eurocleft) and those who have initiated, or intend to initiate, similar studies in other geographical areas." By May 2013 the Task Force (TF) consisted of 183 members from 59 countries. It was agreed that this initiative should be truly global and include all cleft specialties as well as representatives from cleft support groups in recognition of the huge commitment for improving cleft care worldwide. The vision for this group is to build a dynamic, well-functioning TF that will work globally and be multidisciplinary with inclusive and respectful behavior to improve care for all individuals born with cleft lip and/or palate. As there is a large diversity in needs and interest in the group a range of parallel approaches would be required depending on the experience, resources, and challenges of regions, teams, and individuals. Important ideas for future work were: (1) Work on a global survey of access, existing outcome studies, current collaborations, and lessons learned. (2) Work towards the creation of a lasting, living resource for newcomers to intercenter collaboration that is kept fresh with new reports, copies of relevant publications, model grant applications, and a list of volunteers with the right experience to provide support and guidance for new initiatives. (3) Develop simple online training modules to provide information about the benefits and principles of multidisciplinary care, collaborative data collection and auditing short and longer-term outcomes. (4) Establish subgroups that will work within all regions of the world with regional and national leaders identified. An evaluation of current standards of care should be undertaken and country/region specific remedies to optimize

  6. The impact of early infant jaw-orthopaedics on early speech production in toddlers with unilateral cleft lip and palate.

    PubMed

    Lohmander, Anette; Lillvik, Malin; Friede, Hans

    2004-01-01

    The purpose of study was to investigate the impact of pre-surgical Infant Orthopaedics (IO) on consonant production at 18 months of age in children with Unilateral Cleft Lip and Palate (UCLP) and to compare the consonant production to that of age-matched children without clefts. The first ten children in a consecutive series of 20 with UCLP received IO and the following ten did not. Both groups had soft palate repair at 6.3 months of age. The cleft in the hard palate was unrepaired. Ten normally developing children without clefts served as controls. Nine children in each group accomplished the study. Phonetic transcriptions of consonants were made from audiotape recordings obtained during a 45-60 minute interactive session. No significant differences in the number of consonant tokens or of consonant types were found between the UCLP children with and without IO but both groups had significantly lower numbers than the control group. There was no significant difference in frequency of different manners or places of articulation of plosives between the UCLP groups. The frequency of occurrence of bilabial and dental consonant placements of plosives were significantly higher in the control group than in both UCLP groups.

  7. Effects of preoperative local ropivacaine infiltration on postoperative pain scores in infants and small children undergoing elective cleft palate repair.

    PubMed

    Coban, Yusuf Kenan; Senoglu, Nimet; Oksuz, Hafize

    2008-09-01

    Previous data have shown that preoperative analgesia may reduce postoperative analgesic demands. The aim of the current study was to determine if preincisional ropivacaine infiltration may reduce postoperative oral pain in infants and small children undergoing elective cleft palate patients.Twenty nonsyndromic cleft palate patients were randomly divided into 2 groups. Injection with ropivacaine hydrochloride, at dose of 0.2 mg/kg, was performed by submucous infiltration of the proposed incisional site groups of patients. In control group, no medication was given before cleft palate repair under general anesthesia. Postoperative pain scores were measured according to Children and Infants Postoperative Pain Scale. Heart rate recordings and noninvasive blood pressure measurements were also done in all the patients.Measurements of Children and Infants Postoperative Pain Scale scores at all the observational postoperative periods showed significantly favorable values in ropivacaine group than in control group (P < 0.05). Six patients in the control group required rescue analgesia, whereas 2 patients required analgesic therapy in the treatment group.Preemptive analgesia using ropivacaine may enhance early postoperative comfort by reducing early postoperative pain in primary cleft repair.

  8. Craniofacial characteristics and velopharyngeal function in cleft lip/palate children with and without adenoidectomy.

    PubMed

    Pulkkinen, Joonas; Ranta, Reijo; Heliövaara, Arja; Haapanen, Marja-Leena

    2002-02-01

    The association between velopharyngeal function, craniofacial morphology and adenoidectomy was investigated using 27 craniofacial and nasopharyngeal variables taken from lateral cephalograms. The sample consisted of 96 boys with cleft palates with or without cleft lips. They were examined at 6 years of age when cephalograms were obtained and perceptual speech assessments were performed. The subjects were divided into three groups: (1) velopharyngeal competence (VPC, n = 45); (2) mild incompetence not requiring velopharyngoplasty (VPI, n = 36); and (3) previous incompetence operated on with velopharyngoplasty ad modum Hoenig (VPP, n = 15) before the 6-year examination. The groups were further divided into two subgroups according to previous adenoidectomy (Ad+, Ad-). The cranial base, size and interrelationship of the maxilla and mandible and their relationship to the cranial base or the bony nasopharynx did not differ among the VPC, VPI and VPP groups. The sagittal depth of the nasopharyngeal airway (Pm-ad1, Pm-ad2, Pm-ad3) was significantly wider in the VPP group than in the the VPC and VPI groups. The previous adenoidectomy decreased the thickness of the posterior pharyngeal wall (ad1-Ba, ad2-so) and thus increased airway size. The length of the velum did not differ between the three groups or their subgroups with and without adenoidectomy. The results showed that adenoidectomy is a risk to velopharyngeal function by widening the nasal airway, but velopharyngeal incompetence cannot definitely be attributed to adenoidectomy.

  9. 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.

  10. Alveolar graft in the cleft lip and palate patient: Review of 104 cases

    PubMed Central

    Tobella-Camps, María L.; Rivera-Baró, Alejandro

    2014-01-01

    Introduction: Alveolar bone grafting is a vital part of the rehabilitation of cleft patients. The factors that have been most frequently associated with the success of the graft are the age at grafting and the pre-grafting orthodontic treatment. Objectives: 1) Describe the cases of alveolar bone grafts performed at the Maxilofacial Unit of Hospital Sant Joan de Déu, Barcelona (HSJD); and 2) Analyze the success/failure of alveolar grafts and related variables. Material and Methods: Descriptive retrospective study using a sample of 104 patients who underwent a secondary alveolar graft at the Craniofacial Unit of HSJD between 1998 and 2012. The graft was done by the same surgeon in all patients using bone from the iliac crest. Results: 70% of the patients underwent the procedure before the age of 15 (median 14.45 years); 70% of the graft patients underwent pre-graft maxillary expansion. A total of 100 cases were recorded as successful (median age of 14.58 years, 68 underwent pre-graft expansion) and only 4 were recorded as failures (median age of 17.62 years, 3 underwent pre-graft expansion). We did not find statistically significant differences in age at the time of grafting or pre-surgical expansion when comparing the success and failure groups. We found the success rate of the graft to be 96.2%. Conclusions: The number of failures was too small to establish a statistically significant conclusion in our sample regarding the age at grafting and pre-grafting expansion. The use of alveolar bone grafting from the iliac crest has a very high success rate with a very low incidence of complications. Existing controversies regarding secondary bone grafting and the wide range of success rates found in the literature suggest that it is necessary to establish a specific treatment protocol that ensures the success of this procedure. Key words:Alveolar graft, cleft lip and palate, alveolar cleft, alveolar defect. PMID:24880440

  11. Clinical characteristics of horses and foals diagnosed with cleft palate in a referral population: 28 cases (1988-2011).

    PubMed

    Shaw, Sarah D; Norman, Tracy E; Arnold, Carolyn E; Coleman, Michelle C

    2015-07-01

    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.

  12. Evaluation of homocysteine levels in individuals having nonsyndromic cleft lip with or without palate

    PubMed Central

    Abdulla, Riaz; Tellis, Rouchelle Charmaine; Athikari, Roshan; Kudkuli, Jagadish

    2016-01-01

    Context: Nonsyndromic cleft lip with or without palate (NSCL ± P) is a genetic predisposition involving defects in shape and makeup of the lip and palate. Elevation of homocysteine (Hcy) levels is seen in medical complications such as developmental anomalies causing neural tube defects, congenital vascular diseases, neurodegenerative and psychiatric conditions. Evaluation of serum Hcy levels forms an important feature to look further into molecular aspects. Aims: The aim of this study was to evaluate the Hcy levels in NSCL ± P cases by comparing with control cases having no orofacial deformities. Settings and Design: This study was performed with a biochemical assay in a research laboratory. Materials and Methods: A cross-sectional prevalence study was done to compare the concentrations of Hcy between 25 NSCL ± P patients and 15 healthy controls. Blood samples were collected from both the patients and controls and assessed for serum Hcy level using competent chemiluminescent immunoassay technique. Statistical Analysis Used: Student's t-test was used for statistical analysis. Results: The average Hcy concentration was 9.5 μmol/L in control group. There was an increase in Hcy concentration among the NSCL ± P cases with an average value of 18.4 μmol/L. The results were found to be statistically significant using Student's t-test. Conclusions: The results of this study indicate that Hcy concentration has a significant elevation in NSCL ± P patients when compared with that of control cases. PMID:27721602

  13. Susceptibility to DNA Damage as a Molecular Mechanism for Non-Syndromic Cleft Lip and Palate

    PubMed Central

    Sunaga, Daniele Yumi; Francis-West, Philippa; Kuta, Anna; Almada, Bruno Vinícius Pimenta; Ferreira, Simone Gomes; de Andrade-Lima, Leonardo Carmo; Bueno, Daniela Franco; Raposo-Amaral, Cássio Eduardo; Menck, Carlos Frederico; Passos-Bueno, Maria Rita

    2013-01-01

    Non-syndromic cleft lip/palate (NSCL/P) is a complex, frequent congenital malformation, determined by the interplay between genetic and environmental factors during embryonic development. Previous findings have appointed an aetiological overlap between NSCL/P and cancer, and alterations in similar biological pathways may underpin both conditions. Here, using a combination of transcriptomic profiling and functional approaches, we report that NSCL/P dental pulp stem cells exhibit dysregulation of a co-expressed gene network mainly associated with DNA double-strand break repair and cell cycle control (p = 2.88×10−2–5.02×10−9). This network included important genes for these cellular processes, such as BRCA1, RAD51, and MSH2, which are predicted to be regulated by transcription factor E2F1. Functional assays support these findings, revealing that NSCL/P cells accumulate DNA double-strand breaks upon exposure to H2O2. Furthermore, we show that E2f1, Brca1 and Rad51 are co-expressed in the developing embryonic orofacial primordia, and may act as a molecular hub playing a role in lip and palate morphogenesis. In conclusion, we show for the first time that cellular defences against DNA damage may take part in determining the susceptibility to NSCL/P. These results are in accordance with the hypothesis of aetiological overlap between this malformation and cancer, and suggest a new pathogenic mechanism for the disease. PMID:23776525

  14. 3D evaluation of maxillary arches in unilateral cleft lip and palate patients treated with nasoalveolar moulding vs. Hotz's plate.

    PubMed

    Cerón-Zapata, A M; López-Palacio, A M; Rodriguez-Ardila, M J; Berrio-Gutiérrez, L M; De Menezes, M; Sforza, C

    2016-02-01

    To compare the three-dimensional changes occurring in the maxillary arch during the use of modified pre-surgical nasoalveolar moulding (PNAM) and Hotz's plate. A clinical trial including 32 children with unilateral cleft lip and palate (UCLP), 16 treated with Hotz's plate and 16 with PNAM, was performed. Impressions of the maxillary arches were taken: A. prior to pre-surgical orthopaedics, B. before cheiloplasty and C. after cheiloplasty. Models were digitised using a stereophotogrammetric instrument, and geodesic distances were calculated: anterior, canine and posterior widths of the arch, and lengths and cleft depths of the larger and shorter segments. The time and treatment effects were assessed by two-factor anova. A significant effect of treatment was found for cleft depth at the larger segment: children treated with Hotz's plate had significantly deeper cleft than children treated with PNAM. All distances significantly changed during time: the anterior and canine widths decreased, while the posterior width, the lengths and depths of the cleft segments increased. Significant treatment per time interactions was found. The anterior and canine widths reduced more with PNAM between time points A and B while Hotz's treatment was more effective between B and C. The shorter segment depth increased more between B and C with PNAM, and between A and B with Hotz's plate. During pre-surgical orthopaedics, therapy with PNAM obtained the best results in reducing the width at the anterior segment of the cleft. This treatment gave a lower increase in cleft depth than treatment with Hotz's plate.

  15. Prenatal diagnosis of cleft lip/palate: The surface rendered oro-palatal (SROP) view of the fetal lips and palate, a tool to improve information-sharing within the orofacial team and with the parents.

    PubMed

    Levaillant, Jean-Marc; Nicot, Romain; Benouaiche, Laurence; Couly, Gérard; Rotten, Daniel

    2016-07-01

    The ultrasonographic surface rendered oro-palatal (SROP) view is a 3D reconstructed view of the fetal perioral region, which combines ultrasound insonation in a trans oral, upward directed axial direction and the surface rendered mode. It allows the simultaneous visualization on a single scan of the superior lip, alveolar ridge and secondary palate. It corresponds prenatally to the submental intra oral photography of the palate of neonates. The aim of the study was to demonstrate the benefice of using the SROP view in the management of cleft lip with or without cleft palate, uni- or bi-lateral, diagnosed prenatally (22-28 gestational weeks). The SROP view allowed the representation on a single view of the characteristics of the defect useful to the different members of the orofacial team to exactly evaluate the difformity and to plan the ulterior therapeutic steps (e.g. side, extension of the cleft to the secondary palate, tooth organization). Also, being easier to read by lay people thanks to the use of a surface rendered representation rather than the usual multiplanar reconstructions in the three traditional orthogonal planes, the SROP view makes it easier to bring exact information to the parents about the malformation and its consequences.

  16. 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.

  17. Characterization of Subtle Brain Abnormalities in a Mouse Model of Hedgehog Pathway Antagonist-Induced Cleft Lip and Palate

    PubMed Central

    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. PMID:25047453

  18. New insights from GWAS for the cleft palate among han Chinese population

    PubMed Central

    Duan, Shi-Jun; Huang, Ning; Zhang, Bi-He; Shi, Jia-Yu; He, Sha; Ma, Jian; Yu, Qiong-Qiong; Shi, Bing

    2017-01-01

    Background Genome wide association studies (GWAS) already have identified tens of susceptible loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). However, whether these loci associated with nonsyndromic cleft palate only (NSCPO) remains unknown. Material and Methods In this study, we replicated 38 SNPs (Single nucleotide polymorphisms) which has the most significant p values in published GWASs, genotyping by using SNPscan among 144 NSCPO trios from Western Han Chinese. We performed the transmission disequilibrium test (TDT) on individual SNPs and gene-gene (GxG) interaction analyses on the family data; Parent-of-Origin effects were assessed by separately considering transmissions from heterozygous fathers versus heterozygous mothers to affected offspring. Results Allelic TDT results showed that T allele at rs742071 (PAX7) (p=0.025, ORtransmission=3.00, 95%CI: 1.09-8.25) and G allele at rs2485893 (10kb 3’ of SYT14) were associated with NSCPO (p=0.0036, ORtransmission= 0.60, 95%CI: 0.42-0.85). Genotypic TDT based on 3 pseudo controls further confirmed that rs742071 (p-value=0.03, ORtransmission=3.00, 95%CI: 1.09-8.25) and rs2485893 were associated with NSCPO under additive model (p-value= 0.02, ORtransmission= 0.66, 95%CI: 0.47-0.92). Genotypic TDT for epistatic interactions showed that rs4844913 (37kb 3’ of DIEXF) interacted with rs11119388 (SYT14) (p-value=1.80E-08) and rs6072081 (53kb 3’ of MAFB) interacted with rs6102085 (33kb 3’ of MAFB) (p-value=3.60E-04) for NSCPO, suggesting they may act in the same pathway in the etiology of NSCPO. Conclusions In this study, we found that rs742071 and rs2485893 were associated NSCPO from Han Chinese population; also, interactions of rs4844913:rs11119388 and rs6072081:rs6102085 for NSCPO were identified, gene-gene interactions have been proposed as a potential source of the remaining heritability, these findings provided new insights of the previous GWAS. Key words:GWAS, NSCPO, TDT, parent

  19. Nasal Airway Evaluation After Le Fort I Osteotomy Combined With Septoplasty in Patients With Cleft Lip and Palate

    PubMed Central

    Wang, Zhongying; Wang, Peihua; Zhang, Yixin; Shen, Guofang

    2017-01-01

    Abstract Septal deviation constitutes an important component of both esthetic deformity and airway compromise in patients with cleft lip and palate (CLP). The posterior parts of the nasal septum presented greater deviation than the anterior parts in patients with complete unilateral CLP. Le Fort I down-fracture provides better access to the nasal septum than intranasal incision during rhinoplasty, especially to the posterior part. This study objectively and subjectively evaluated the nasal function after Le Fort I osteotomy combined with septoplasty in patients with complete unilateral CLP. Twenty-three patients with complete unilateral CLP presenting with nasal obstruction and septum deviation were included (12—combined surgery group; 11—control group). Types of septum deviation in the patients were analyzed. Presurgical and 6-month-postsurgical acoustic rhinometry (AR) was performed for objective assessment; and the nasal obstruction symptom evaluation (NOSE) scale was used for subjective assessment. The authors used SPSS to compare the baseline and follow-up results. Acoustic rhinometry assessment showed improvements in the nasal minimal cross-sectional area (MCA), nasal resistance, and nasal volumes in 12 patients who received combined surgery. For the 2 groups, significant improvements in nasal breathing were documented (by NOSE scores) at 6 months after surgery. Simultaneous management of the maxillary dysplasia (Le Fort I osteotomy) and intranasal pathology (septoplasty) were effective for relief of nasal airway obstruction in patients with complete unilateral CLP. The combination of objective (AR) and subjective (NOSE scale) assessments allowed better evaluation of the nasal function. PMID:27930464

  20. [Ethics and best practice in the consulting management of children with cleft lip and palate, and their parents].

    PubMed

    Chancholle, A R; Saboye, J

    2000-11-01

    Surgical treatment is only one part of the management of the child with cleft lip and palate. This paper exclusively focuses on other important aspects of this management. This includes the information and psychological supports of the parents, whether the cleft lip is diagnosed prenatally or at birth, the practical aspects of the consultation within the team of the different specialists involved (surgeon, anesthetist, dentist, orthodontist, speech therapist, otorhinolaryngologist, geneticist, child psychologist). The school teacher must also be concerned at the beginning of the first school year.

  1. Fistula Rate after primary palatal repair with intravelarveloplasty: a retrospective three-year audit of six units (NorCleft) in the UK.

    PubMed

    Moar, Kanwalraj K; Sweet, Christopher; Beale, Victoria

    2016-07-01

    Our aim was to evaluate the rate of fistulation after one-stage palatal repair by intravelarveloplasty in the NorCleft Cleft Services (Scotland and Northern England), this being a primary outcome measure after repair of a cleft palate. We designed a retrospective, three-year clinical audit of six cleft units in the UK, and retrospectively reviewed the casenotes of babies with cleft palate born in 2006-2008 who were treated by intravelarveloplasty. We recorded type of cleft and procedure, including lateral relieving incisions, and our main outcome measure was the presence of a fistula behind the incisive foramen at 3 years of age, or a history of repair of a fistula. A total of 743 patients had cleft palates, but 69 (9%) were excluded (because they had not been operated on, or had not been reviewed by the age of 3 years, or their records were unavailable). A total of 626 patients had had a Sommerlad intravelarveloplasty repair, and 48 had had mixed procedures including Veau-Wardill-Kilner, Furlow, or two-stage repairs, and were not studied further. Eighty-seven (14%) who had had intravelarvoloplasty had a fistula behind the incisive foramen. There was no significant difference in age at time of repair between those who developed a fistula and those who did not (p=0.65). The fistula rate of 14% is comparable with that of Sommerlad. The fistula rate was higher in patients who had had lateral releasing incisions (58/275, 21%) or who had bilateral cleft palate (16/63, 25%). To our knowledge this is the largest review of the fistula rate in patients who had primary palatal repair using the intravelarveloplasty technique in the UK, and shows significant correlation between lateral releasing incisions and formation of a fistula, except in the unilateral cleft lip and palate group (p=0.12).

  2. Self-esteem, coping styles, and quality of life in polish adolescents and young adults with unilateral cleft lip and palate.

    PubMed

    Pisula, Ewa; Lukowska, Ewa; Fudalej, Piotr S

    2014-05-01

    Objectives : To evaluate self-esteem, coping styles, and health-related quality of life and their relationships in Polish adolescents and young adults with unilateral complete cleft lip and palate and related sex differences. Design and Participants : Self-report questionnaires measuring self-esteem (Multidimensional Self-Esteem Inventory), coping styles (Coping Inventory for Stressful Situations), and health-related quality of life (WHOQOL-BREF) were completed by 48 participants with cleft lip and palate (age, 16 to 23 years; 31 males, 17 females) and 48 controls without cleft lip and palate (age, 16 to 23 years; 28 males, 20 females) matched for age, place of residence, and socioeconomic status. Results : Regarding self-esteem, individuals with cleft lip and palate scored higher on body functioning (P < .01) and defensive self-enhancement (P < .05). Self-control showed an interaction effect: Females with cleft lip and palate scored higher than controls, but males did not differ between groups (P < .05). Males with cleft lip and palate scored lower than controls in personal power but higher in body functioning (P < .05); females showed no differences between groups. The groups did not differ with regard to coping styles or quality of life, but several correlations were found between self-esteem and coping styles, and quality of life (P < .01). Conclusions : Late adolescents and young adults with and without cleft lip and palate differed little in terms of psychological adjustment measures. The higher scores in defensive self-enhancement of individuals with cleft lip and palate suggest the need for instruments measuring social approval in psychosocial adjustment research involving this group.

  3. Comparison of the Pharyngeal Airway Volume between Non-Syndromic Unilateral Cleft Palate and Normal Individuals Using Cone Beam Computed Tomography

    PubMed Central

    Shahidi, Shoaleh; Momeni Danaie, Shahla; Omidi, Mahsa

    2016-01-01

    Statement of the Problem: Individuals with cleft lip and cleft palate mostly have airway problems. Introduction of cone beam computed tomography (CBCT) and imaging software has provided the opportunity for a more precisely evaluating 3D volume of the airway. Purpose: The purpose of this study was to analyze and compare 3D the pharyngeal airway volumes of cleft palate patients with normal individuals using CBCT. Materials and Method: 30 complete cleft palate patients were selected from the Department of Orthodontics; Dental University (Shiraz, Iran) who had CBCT scans of the head. The control group included 30 individuals with Class I angle occlusion who were matched for age and gender with the experimental group. ITK-SNAP 2.4.0 PC software was used to build 3D models of the airways for the subjects and measuring airway volumes. The statistical analyses were performed using SPSS software (version 19). Mann-Whitney test was adopted with p< 0.05 as statistical significance. Results: The average volume of the pharyngeal airway of cleft group was 18.6 cm3, with mean volumes of 6.8 cm3 for the superior component and 11.3 cm3 for the inferior component. The total and superior airway volume of cleft group were significantly lower than non-cleft groups (p= 0.008, p= 0.00, respectively) but the inferior airway volumes were not significantly different between the cleft and non-cleft groups. There was a significant and positive correlation between superior airway volume and inferior airway volume in cleft palate patients (r=+0.786, p< 0.001) and control group (r=+0.575, p= 0.001). Conclusion: 3D analysis showed that the nasal and total airway was restricted in individuals with cleft palate but the inferior airway was not compromised in these individuals. This would be a crucial data to be considered for surgeons during surgical planning. PMID:27840840

  4. The effect of muscle repair on postoperative facial skeletal growth in children with bilateral cleft lip and palate.

    PubMed

    Nagase, T; Januszkiewicz, J S; Keall, H J; de Geus, J J

    1998-12-01

    The effect of orbicularis muscle repair on postoperative facial skeletal growth in bilateral cleft lip and palate patients was studied by analysis of cephalometric radiographs and dental casts. Sixty-two patients operated on between 1961-1989 were selected for the study. They were divided into three groups, group 1a (muscle repair; n = 12), group 1b (failed attempt at muscle repair; n = 5), and group 2 (no attempt at muscle repair; n = 45). Comparison of the morphological measurements among these three groups showed that there was a trend towards crossbite in the muscle repair group, but this difference was not significant. Mechanisms by which muscle repair might influence maxillofacial skeletal growth include the possibility that the area around the nasal septum might be the growth centre. The choice of operative technique in bilateral cleft lip and palate should be important.

  5. Value of sagittal color Doppler ultrasonography as a supplementary tool in the differential diagnosis of fetal cleft lip and palate

    PubMed Central

    2017-01-01

    Purpose The purpose of this study was to evaluate the feasibility and usefulness of sagittal color Doppler ultrasonography (CDUS) for the diagnosis of fetal cleft lip (CL) and cleft palate (CP). Methods We performed targeted ultrasonography on 25 fetuses with CL and CP, taking coronal and axial images of the upper lip and maxillary alveolar arch in each case. The existence of defects in and malalignment of the alveolus on the axial image, hard palate defects on the midsagittal image, and flow-through defects on CDUS taken during fetal breathing or swallowing were assessed. We compared the ultrasonography findings with postnatal findings in all fetuses. Results Alveolar defects were detected in 16 out of 17 cases with CP and four out of eight cases with CL. Alveolar malalignment and hard palate defects were detected in 11 out of 17 cases and 14 out of 17 cases with CP, respectively, but not detected in any cases with CL. Communicating flow through the palate defect was detected in 11 out of 17 cases of CL with CP. The accuracy of detection in axial scans of an alveolar defect and malalignment was 80% and 76%, respectively. Accuracy of detection of in mid-sagittal images of hard palate defect and flow was 80% and 86%, respectively. The overall diagnostic accuracy of combined axial and sagittal images with sagittal CDUS was 92%. Conclusion Sagittal CDUS of the fetal hard palate is a feasible method to directly reveal hard palate bony defects and flow through defects, which may have additional value in the differential diagnosis of fetal CL and CP. PMID:27764909

  6. Increased caries prevalence in 2.5-year-old children with cleft lip and/or palate.

    PubMed

    Bokhout, B; Hofman, F X; van Limbeek, J; Kramer, G J; Prahl-Andersen, B

    1996-01-01

    The prevalence of dental caries was determined clinically in 2.5-year-old Dutch cleft lip and/or palate children (n = 76) and in children without congenital malformation (n = 75). The parents were given a structured questionnaire regarding the child's dietary habits, oral hygiene, fluoride exposure and social economic background. The prevalence of dental caries was higher in children with oral cleft than in children without oral cleft. Initial caries (white spots) was diagnosed in 17.1% of the subjects with oral cleft compared with 4.0% of the control subjects. Manifest caries (cavities) was found in 26.3% of the children with oral cleft compared with 5.3% of the controls. The dft score (manifest caries) was significantly higher for the oral cleft group (0.59 +/- 1.35) than for the control group (0.11 +/- 0.54). 52% of the total number of initial and manifest lesions were localized to the maxillary incisors. A multivariate analysis yielded initial caries, oral hygiene and treatment with preoperative infant orthopaedics as the variables significantly associated with manifest caries.

  7. Gene Interactions Provide Evidence for Signaling Pathways Involved in Cleft Lip/Palate in Humans.

    PubMed

    Velázquez-Aragón, J A; Alcántara-Ortigoza, M A; Estandia-Ortega, B; Reyna-Fabián, M E; Méndez-Adame, C D; González-Del Angel, A

    2016-10-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common craniofacial birth defect that has a complex etiology. Genome-wide association studies have recently identified new loci associated with NSCL/P, but these loci have not been analyzed in a Mexican Mestizo population. A complex etiology implies the presence of genetic interactions, but there is little available information regarding this in NSCL/P, and no signaling pathway has been clearly implicated in humans. Here, we analyzed the associations of 24 single nucleotide polymorphisms (SNPs) with NSCL/P in a Mexican Mestizo population (133 cases, 263 controls). The multifactorial dimensionality reduction method was used to examine gene-gene and gene-folic acid consumption interactions for the 24 SNPs analyzed in this study and for 2 additional SNPs that had previously been genotyped in the same study population. Six SNPs located in paired box 7, ventral anterior homeobox 1, sprouty RTK signaling antagonist 2, bone morphogenetic protein 4, and tropomyosin 1 genes were associated with higher risks of NSCL/P (P = 0.0001 to 0.04); 2 SNPs, 1 each in netrin 1 and V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B, were associated with a lower risk of NSCL/P (P = 0.013 to 0.03); and 2 SNPs, 1 each in ATP binding cassette subfamily A member 4 (ABCA4) and noggin, showed associations with NSCL/P that approached the threshold of significance (P = 0.056 to 0.07). In addition, 6 gene-gene interactions (P = 0.0001 to 0.001) and an ABCA4-folic acid consumption interaction (P < 0.0001) were identified. On the basis of these results, combined with those of previous association studies in the literature and biological characterizations of murine models, we propose an interaction network in which interferon regulatory factor 6 plays a central role in the etiology of NSCL/P.

  8. Patterns of some extracellular matrix gene expression are similar in cells from cleft lip-palate patients and in human palatal fibroblasts exposed to diazepam in culture.

    PubMed

    Marinucci, Lorella; Balloni, Stefania; Bodo, Maria; Carinci, Francesco; Pezzetti, Furio; Stabellini, Giordano; Conte, Carmela; Carmela, Conte; Lumare, Eleonora

    2009-03-04

    Prenatal exposure to diazepam, a prototype sedative drug that belongs to Benzodiazepines, can lead to orofacial clefting in human newborns. By using real-time PCR, in the present study we investigated whether diazepam elicits gene expression alterations in extracellular matrix (ECM) components, growth factors and gamma-aminobutyric acid receptor (GABRB3), implicated in the coordinate regulation of palate development. Palate fibroblasts were treated with diazepam (Dz-N fibroblasts) and compared to cleft lip-palate (CLP) fibroblasts obtained from patients with no known exposure to diazepam or other teratogens. Untreated fibroblasts from non-CLP patients were used as control. The results showed significant convergences in gene expression pattern of collagens, fibromodulin, vitronectin, tenascin C, integrins and metalloprotease MMP13 between Dz-N and CLP fibroblasts. Among the growth factors, constitutive Fibroblast Growth Factor 2 (FGF2) was greatly enhanced in Dz-N and CLP fibroblasts and associated with a higher reduction of FGF receptor. Transforming Growth Factor beta 3 (TGFbeta(3)) resulted up-regulated in CLP fibroblasts and decreased in Dz-N fibroblasts. We found phenotypic differences exhibited by Dz-N and CLP fibroblasts in GABRB3 gene regulation, so further studies are necessary to determine whether GABAergic system could be involved in the development of diazepam mediated CLP phenotype. Taken together the results elucidate the molecular mechanisms underlying possible toxicology effects induced by diazepam. Counselling of women on the safety of diazepam exposure is clinically important, also for the forensic consequences.

  9. Single Visit Feeding Appliance for 1-day-old Neonate with Cleft Palate Using Safe Dental Putty-Gauze Hybrid Impression Technique for Maxillary Impression

    PubMed Central

    Rathee, Manu

    2015-01-01

    Cleft lip and palate is one of the most common craniofacial anomalies of humans. Intraoral impression making is the first clinical step in the fabrication of feeding appliance for infants with oro-nasal communication. It is difficult to control the flow of the impression material in the cleft area and undercuts in a child patient. This clinical report presents a simple and safe impression technique for maxillary impression making in neonates and infants with cleft palate. A gauze piece was used to confine the impression material during functional movements of sucking while impression making in an awake child to avoid the risk of aspiration or swallowing. PMID:27512543

  10. Exposure of Cleft Lip and Palate Patients to Toxic Elements Released during Orthodontic Treatment in the Study of Non-Invasive Matrices

    PubMed Central

    Mikulewicz, Marcin; Kachniarz, Krzysztof; Chojnacka, Katarzyna

    2015-01-01

    The Objective The aim of the study was evaluation of metal ions (nickel and chromium) released from orthodontic appliances in cleft lip and palate patients and the usefulness of non-invasive matrices (saliva and hair). Materials and Methods The material studied consisted of 100 individuals, including 59 females and 41 males of 5 to 16 years of age, which were divided into 3 groups: experimental–patients with cleft lip and palate (36 individuals, the average treatment time 5.74 years); control group–patients without cleft lip and palate, during orthodontic treatment (32 individuals, the average treatment time 1.78 years) and the control group patients without cleft lip and palate, without any orthodontic appliances (32 individuals). Samples (saliva, hair) were collected and subjects underwent a survey by questionnaire. Multi-elemental analyses of the composition of non-invasive matrices was conducted in an accredited laboratory by inductively coupled plasma spectrometry technique ICP-OES. The results were reported as mean contents of particular elements (Cd, Cr, Cu, Fe, Mn, Mo, Ni, Si) in hair and in saliva. Results The concentration of Cr, Ni, Fe and Cu ions in saliva of cleft lip and palate patients were several times higher as compared with not treated orthodontically control groups and higher than in the group with orthodontic appliances. Among the assessed matrices, hair of cleft lip and palate patients seem to be not a meaningful biomarker. Conclusion It was found that orthodontic appliances used in long-term treatment of cleft lip and palate patients do not release toxic levels of Cr and Ni ions. PMID:26544176

  11. Proteomic Analysis of RBP4/Vitamin A in Children with Cleft Lip and/or Palate.

    PubMed

    Zhang, J; Zhou, S; Zhang, Q; Feng, S; Chen, Y; Zheng, H; Wang, X; Zhao, W; Zhang, T; Zhou, Y; Deng, H; Lin, J; Chen, F

    2014-06-01

    Cleft of the lip and/or palate (CLP) is one of the most common congenital craniofacial defects. Non-syndromic CLP (NSCLP) is a multifactorial disease influenced by the interaction of genetic and environmental factors. However, there are few studies reporting on the developmental or metabolic status of babies with NSCLP after birth. In our study, we sought to identify and evaluate the differential expression of serum protein profiles in NSCLP children and unaffected babies. Thus, a 'shotgun proteomics' approach was first used to analyze the plasma proteome of 13 children with NSCLP and 10 control children, aged 2 to 3.5 years. In total, more than 300 proteins were identified in the serum sample. With gene ontology (GO) analysis, we detected many differentially expressed proteins that could be related to NSCLP, including those involved in lipoprotein metabolism, insulin-like growth-factor-related processes, and so on, especially the proteins involved in retinol transport. Retinol binding protein 4 (RBP4), one protein of the retinol transport category, was significantly decreased in the NSCLP group. Thus, serum vitamin A levels were further determined by high-performance liquid chromatography (HPLC). A significant difference (p < .01) was also found in vitamin A concentrations, consistent with the trend of RBP4. Our results indicated that reduced levels of RBP4 and vitamin A were related to newborns with NSCLP and should thus receive more attention. These results also suggest that vitamin A supplementation might be necessary at an early stage.

  12. Towards a new procreation ethic: the exemplary instance of cleft lip and palate.

    PubMed

    Le Dref, Gaëlle; Grollemund, Bruno; Danion-Grilliat, Anne; Weber, Jean-Christophe

    2013-08-01

    The improvement of ultrasound scan techniques is enabling ever earlier prenatal diagnosis of developmental anomalies. In France, apart from cases where the mother's life is endangered, the detection of "particularly serious" conditions, and conditions that are "incurable at the time of diagnosis" are the only instances in which a therapeutic abortion can be performed, this applying up to the 9th month of pregnancy. Thus numerous conditions, despite the fact that they cause distress or pain or are socially disabling, do not qualify for therapeutic abortion, despite sometimes pressing demands from parents aware of the difficulties in store for their child and themselves, in a society that is not very favourable towards the integration and self-fulfilment of people with a disability. Cleft lip and palate (CLP), although it can be completely treated, is one of the conditions that considerably complicates the lives of child and parents. Nevertheless, the recent scope for making very early diagnosis of CLP, before the deadline for legal voluntary abortion, has not led to any wave of abortions. CLP in France has the benefit of a exceptional care plan, targeting both the health and the integration of the individuals affected. This article sets out, via the emblematic instance of CLP, to show how present fears of an emerging "domestic" or liberal eugenic trend could become redundant if disability is addressed politically and medically, so that individuals with a disability have the same social rights as any other citizen.

  13. [Bilateral cleft lip and palate. Anatomic and clinical characteristics and therapeutic results].

    PubMed

    Morand, B; Raphaël, B

    2004-09-01

    Treatment teams that conceive and nourish their ideas in a multi-disciplinary environment are best suited to elaborate therapeutic protocols. Their concepts should be based on consistent evaluation of their treatment results as documented by precise and reproducible records. In the wide array of maxillo-facial anatomical deformities presented clinically, bilateral cleft lips and palates are the rarest (20%), but they are also the most serious because of the inherent disconnection of maxillary structures that accompanies them and because of the grave disturbances they inflict on the development of the middle third of the face. Surgeons have devised an extraordinary gamut of protocols to correct these disorders and then abandoned them because of the problematical and ephemeral results they provided. The authors, after evaluating their own results, modified their therapeutic approach in 1994. They present their current protocol, which calls for an orthopedic phase carried out when the patient is 2 months old and two surgical phases when the patient is 3 and then 7 months old.

  14. [A case of cleft lip and palate patient with basilar impression].

    PubMed

    Kondo, T; Iwata, R; Fuwa, Y; Goto, S

    1990-04-01

    Basilar impression is one of bony deformities occurred in the region of the foramen magnum, in which deformity, rim of the foramen magnum or a part of the vertebra impresses into the posterior cranial fossa. Major symptoms of this deformity are short neck, low hair line, torticollis, webbing of neck, pain and limitation of neck movement and various nerve symptoms, when nervous tissue is impressed by rim of the foramen magnum or dens of the second vertebra. This deformity has a characteristic to be found later as a congenital deformity, because nerve symptoms usually do not occur in earlier than 10 years old. The patient was 7 years and 8 months old at his initial visit, whose chief complaint was rotation of upper central incisors which created chewing disorder. When he became 12 years old, because he was taken palsy, walking disturbance, and neck pain in movement, neurosurgery was planned immediately. Edgewise appliance was, then, removed, and orthodontic treatment had to be discontinued until he left hospital. A case was reported of the problems in orthodontic treatment and characteristic of this deformity through our experience for this cleft lip and palate patient with basilar impression in addition to other reports about this deformity.

  15. Effect of unrestricted bottle-feeding on early postoperative course after cleft palate repair.

    PubMed

    Kim, Eun Key; Lee, Taik Jong; Chae, Soo Wook

    2009-09-01

    Although bottle-feeding after cheiloplasty is widely accepted, postoperative feeding regimen after palatoplasty is still controversial. The aim of this prospective randomized study was to evaluate the effect of bottle-feeding on early postoperative course after palatoplasty in a relatively homogeneous group of patients. Eighty-two consecutive patients with nonsyndromic cleft palate undergoing 2-flap palatoplasty by a single surgeon were randomized to feeding from a bottle with the usual nipple (G1, N = 42) or to feeding with a spoon, cup, or syringe (G2, N = 40). Complication rates, postoperative sedative use, oral intake for the first 6 days, and relative weight gain at 1 and 2 months were compared. There were no significant complications such as bleeding or respiratory problem. The overall complication rate including wound dehiscence and oronasal fistula was similar in G1 and G2 (11.9% versus 12.5%, P = 1.000) as was postoperative sedative use and mean daily oral intake for the first 5 days. Mean intake on the sixth day was significantly higher in G1. There were no significant between-group differences in relative weight gain after 1 and 2 months. In conclusion, bottle-feeding had no adverse effect on the early postoperative course after palatoplasty including complication rate, oral intake, and weight gain. These findings suggest that an unrestricted feeding regimen is appropriate immediately after palatoplasty.

  16. Teleducation about Cleft Lip and Palate: An Interdisciplinary Approach in the Promotion of Health

    PubMed Central

    Corrêa, Camila de Castro; Freire, Thais; Zabeu, Júlia Speranza; Martins, Aline; Ferreira, Rafael; Francisconi, Paulo Afonso Silveira; Dutka, Jeniffer de Cássia Rillo; Blasca, Wanderléia Quinhoeiro

    2015-01-01

    Introduction The Young Doctor Project (YDP) uses Telehealth and Interactive Teleducation instruments to promote the integration of different areas of health and to build knowledge. This methodology can also foster public awareness on various issues related to health. In this context, the objective of this study was to emphasize cleft lip and palate (CLP), which is one of the most common birth defects in Brazil. Objective The study aimed to apply a model of education regarding CLP, based on the dynamics of the YDP, and to evaluate the participants' knowledge acquired after participating in the YDP. Methods The participants were 41 students, 13 to 15 years of age and at the eight- and ninth-grade levels in a private elementary school in Bauru (Brazil). To analyze the performance of the participants, a questionnaire was administered before and after the completion of the training program. The training program was structured in three steps using: (1) interactive teleducation classes, (2) a cybertutor, and (3) practical activities. Results There was a statistically significant difference between the pre- and postparticipation questionnaire results. The improved performance of participants is evidenced by the increase in the rate of correct answers on all issues. Conclusion The YDP on CLP was applied in the school setting following the three steps recommended by the project, and, after the implementation of the training program, there was a significant increase in participants' knowledge of CLP. The YDP on CLP proved an effective tool in promoting health education. PMID:25992163

  17. Fracture of the Vomero-Premaxillary Junction in a Repaired Bilateral Cleft Lip and Palate Patient

    PubMed Central

    Zwahlen, Roger Arthur; Jayaratne, Yasas Shri Nalaka; Htun, Su Yin; Bütow, Kurt-Wilhelm

    2014-01-01

    Although dental trauma is common in bilateral cleft lip and palate (BCLP), patients' reports on bony fractures of the vomero-premaxillary junction cannot be found. The aim of this report is to illustrate clinical findings and the technique of fracture fixation in a child suffering from a fractured vomero-premaxillary junction as well as subsequent columella lengthening. A 4-year-old girl with a repaired BCLP presented with an open mucosal laceration and fractured vomero-premaxillary junction. Open reduction and fixation of the dislocated premaxilla was performed under general anesthesia. Fractured bone pieces of the vomero-premaxillary junction were removed and sharp bone edges at the vomer and the premaxilla were grinded. The repositioned premaxilla was fixed to the lateral alveolar arches with two mucoperiosteal sutures on each side. Additional columella lengthening was performed 2 years later. All family members were very happy about the new aesthetics of the girl. Although rare, fractures of the vomero-premaxillary junction present several challenges to clinicians related to anatomical, physiological, and psychological issues. Immediate and minimal invasive treatment strategies are recommended when managing such cases. PMID:25383152

  18. Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

    PubMed Central

    Pengelly, Reuben J.; Arias, Liliana; Martínez, Julio; Upstill-Goddard, Rosanna; Seaby, Eleanor G.; Gibson, Jane; Ennis, Sarah; Collins, Andrew; Briceño, Ignacio

    2016-01-01

    Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of phenotypes. Nonsyndromic clefting has been shown to arise through complex interactions between genetic and environmental factors. However, there is increasing evidence that the broad NSCLP classification may include a proportion of cases showing familial patterns of inheritance and contain highly penetrant deleterious variation in specific genes. Through exome sequencing of multi-case families ascertained in Bogota, Colombia, we identify 28 non-synonymous single nucleotide variants that are considered damaging by at least one predictive score. We discuss the functional impact of candidate variants identified. In one family we find a coding variant in the MSX1 gene which is predicted damaging by multiple scores. This variant is in exon 2, a highly conserved region of the gene. Previous sequencing has suggested that mutations in MSX1 may account for ~2% of NSCLP. Our analysis further supports evidence that a proportion of NSCLP cases arise through monogenic coding mutations, though further work is required to unravel the complex interplay of genetics and environment involved in facial clefting. PMID:27456059

  19. Skeletal facial balance and harmony in the cleft patient: Principles and techniques in orthognathic surgery

    PubMed Central

    Salyer, Kenneth E.; Xu, Haisong; Portnof, Jason E.; Yamada, Akira; Chong, David K.; Genecov, Edward R.

    2009-01-01

    The management of the palatal cleft, dental arch, and subsequent maxillary form is a challenge for the craniomaxillofacial surgeon. The purpose of this paper is to present the experience of a senior surgeon (KES) who has treated over 2000 patients with cleft lip and palate. This paper focuses on the experience of a recent series of 103 consecutive orthognathic cases treated by one surgeon with a surgical-orthodontic, speech-oriented approach. It will concentrate on not only correcting the occlusion, as others have described, but also on how a surgeon who was trying to achieve optimal aesthetic balance, harmony, and beauty, approached this problem. PMID:19884671

  20. A cephalometric intercentre comparison of patients with unilateral cleft lip and palate at 5 and 10 years of age.

    PubMed

    Del Guercio, Filomena; Meazzini, Maria Costanza; Garattini, Giovanna; Morabito, Alberto; Semb, Gunvor; Brusati, Roberto

    2010-02-01

    The aim of this study was to evaluate any differences between the craniofacial growth of unilateral cleft lip and palate (UCLP) patients who underwent surgery in the Milan CLP centre with those from the Oslo CLP centre at 5 and 10 years of age. The Milan sample comprised 88 UCLP patients (60 males, 28 females) at 5 years of age and 26 patients (17 males, 9 females) at 10 years of age all operated on by the same surgeon. The Oslo sample consisted of 48 UCLP patients (26 males, 22 females) aged 5 years and 29 patients (20 males, 9 females) aged 10 years treated by four different surgeons. Lateral cephalometric radiographs obtained for both samples were analysed and angular measurements and ratios were calculated both for the hard and soft tissues. Statistical analysis was undertaken with an unpaired t-test. At 5 years of age, there were neither sagittal nor vertical hard tissue differences between the two groups. With regard to the soft tissues, only the naso-labial angle showed a statistically significant difference (Milan greater than Oslo by 5 degrees, P < 0.01). At 10 years of age, both SNA and ANB differences were larger in the Oslo group than in the Milan group, >2.6 degrees, P < 0.01 and >2.9 degrees, P < 0.001, respectively. At 5 years of age, the Milan UCLP sample had the same maxillary protrusion as the Oslo group, while at 10 years of age, the Milan sample were slightly less protruded than the Oslo group.

  1. Clinical and genetic study on 356 Brazilian patients with a distinct phenotype of cleft lip and palate without alveolar ridge involvement.

    PubMed

    Alvarez, Camila Wenceslau; Guion-Almeida, Maria Leine; Richieri-Costa, Antonio

    2014-12-01

    Oral clefts include cleft lip (CL), cleft lip with cleft palate (CLP) and cleft palate (CP), with wide variations in clinical presentation and degree of severity. We described a sample of individuals with CL and CP without alveolar arch involvement (CL + CP) to verify if the characteristics of this group are distinct from those with CL with or without CP (CL/P) described in literature. The sample was composed of 356 patients with CL + CP, registered at HRCA-USP, Bauru-SP-Brazil. The following characteristics were investigated: sex ratio, parental age at the time of conception, parental consanguinity, familial recurrence, laterality of the cleft and associated anomalies. A subgroup of 30 individuals with microforms of CL and CP were taken from the sample and compared with the remaining cases. Statistical differences were found between this CL + CP sample and the literature data for groups with CL/P regarding laterality, sex ratio, consanguinity, familial recurrence, and the presence of associated anomalies. The microform sample showed a statistical difference in paternal age. In most evaluated aspects, this sample presents similar characteristics to the consulted literature data for CL/P; as do the group of microform cleft cases when compared with the remaining CL + CP sample in this study. Microforms of cleft can represent a target group for investigation into the embryogenetic mechanisms of oral clefts and their phenotypic variability.

  2. Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.

    PubMed

    Pengelly, R J; Upstill-Goddard, R; Arias, L; Martinez, J; Gibson, J; Knut, M; Collins, A L; Ennis, S; Collins, A; Briceno, I

    2015-11-01

    Individuals from three families ascertained in Bogota, Colombia, showing syndromic phenotypes, including cleft lip and/or palate, were exome-sequenced. In each case, sequencing revealed the underlying causal variation confirming or establishing diagnoses. The findings include very rare and novel variants providing insights into genotype and phenotype relationships. These include the molecular diagnosis of an individual with Nager syndrome and a family exhibiting an atypical incontinentia pigmenti phenotype with a missense mutation in IKBKG. IKBKG mutations are typically associated with preterm male death, but this variant is associated with survival for 8-15 days. The third family exhibits unusual phenotypic features and the proband received a provisional diagnosis of Pierre Robin sequence (PRS). Affected individuals share a novel deleterious mutation in IRF6. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndrome and contribute to nonsyndromic cleft lip phenotypes but have not previously been associated with a PRS phenotype. Exome sequencing followed by in silico screening to identify candidate causal variant(s), and functional assay in some cases offers a powerful route to establishing molecular diagnoses. This approach is invaluable for conditions showing phenotypic and/or genetic heterogeneity including cleft lip and/or palate phenotypes where many underlying causal genes have not been identified.

  3. An intelligibility assessment of toddlers with cleft lip and palate who received and did not receive presurgical infant orthopedic treatment.

    PubMed

    Konst, E M; Weersink-Braks, H; Rietveld, T; Peters, H

    2000-01-01

    A randomized, prospective, clinical study was performed investigating the effects of presurgical infant orthopedic treatment (PIO) in children with unilateral cleft lip and palate (UCLP). The influence of PIO on speech intelligibility was evaluated with two groups, each consisting of 10 children with UCLP. One group used PIO during the first year of life, whereas the other group did not use the device. Eight children without cleft served as a second control group. Intelligibility was assessed by lay listeners using two methods: transcription and listener rating. The ratings proved to be reliable and to have sufficient validity, but they did not completely reflect intelligibility defined as the proportion of words understood by the listener. Children in the treatment group were rated as exhibiting greater intelligibility than those in the nontreatment group. However, data obtained by means of transcriptions indicated that, in fact, there were no group differences in actual intelligibility. Only in comparison with their noncleft peers were the children with cleft lip and palate significantly less well understood.

  4. Periodontal plastic surgery for management of cleft alveolar ridge: a case report.

    PubMed

    Agrawal, Amit A; Yeltiwar, Ramreddy K

    2012-02-01

    Cleft lips, alveoli, and palates are the most common congenital malformations of the head and neck region, all of which often can be managed successfully when presented at a young age. It is a common belief that clefts in the alveolar ridge should be treated with the help of bone grafting materials. This could be the best option when the cleft is to be treated in early age, when the patient is still developing and has high regenerative potential. However, in adults, the literature supports the fact that bone grafting in alveolar clefts has a higher chance for failure. The present case report exemplifies a periodontal plastic surgical procedure involving a combination of connective tissue and free gingival grafting to restore the form and function of a cleft alveolar ridge in an adult patient.

  5. Incidence Assessment of MTHFR C677T and A1298C Polymorphisms in Iranian Non-syndromic Cleft Lip and/or Palate Patients

    PubMed Central

    Ebadifar, Asghar; Ameli, Nazila; Khorramkhorshid, Hamid Reza; Salehi Zeinabadi4, Mehdi; Kamali, Kourosh; Khoshbakht, Tayyebeh

    2015-01-01

    Background and aims. The aim of the present study is to determine the incidence of MTHFR C677 T and A1298C muta-tions in Iranian patients with cleft lip and/or cleft palate. Materials and methods. We screened 61 Iranian patients with cleft lip and/or cleft palate for mutations in the two alleles of MTHFR gene associated with cleft lip and/or palate: A1298C and C677T, using Polymerase Chain Reaction following by RFLP. Results. The 677T and 1298C homozygote genotypes showed a frequency of 36.1% and 11.4%, respectively. Combined genotype frequencies in newborns having oral clefts showed that the highest genotype was 677TT/1298AA (22.9%) and 677TT/1298CC genotypes were not observed. Conclusion. The results showed that 65.6% of all patients had at least one T mutant allele in C677T and 58.9% C mutant allele for A1298C. According to the frequencies of homozygosity of mutant alleles, it could be said that MTHFR genotype of 677TT shows a greater role in having oral clefts. PMID:26236436

  6. Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.

    PubMed

    Wang, Yirui; Sun, Yimin; Huang, Yongqing; Pan, Yongchu; Jia, Zhonglin; Ma, Lijuan; Ma, Lan; Lan, Feifei; Zhou, Yuxi; Shi, Jiayu; Yang, Xiong; Zhang, Lei; Jiang, Hongbing; Jiang, Min; Yin, Aihua; Cheng, Jing; Wang, Lin; Yang, Yinxue; Shi, Bing

    2016-08-15

    Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects worldwide and is characterized by abnormalities of the orofacial structure. Syndromic CL/P is mainly caused by Mendelian disorders such as Van der Woude Syndrome (VWS). However, >70% of CL/P cases are nonsyndromic, characterized by isolated orofacial cleft without any known syndrome. The etiology of nonsyndromic CL/P (NSCL/P) remains elusive, but it has been suggested that causative genes of syndromic CL/P might also contribute to NSCL/P. As such, the VWS causative gene IRF6 has been extensively studied in NSCL/P. Recently, GRHL3 was identified as another VWS causative gene. Thus, it may be a novel candidate gene for NSCL/P. In the present study, we genotyped 10 tag SNPs covering GRHL3 and performed association analysis with NSCL/P in 504 cases and 455 healthy controls. Our preliminary results identified rs10903078, rs4638975, and a haplotype rs10903078-rs6659209 of GRHL3 that exceeded the significance threshold (p<0.05), though none survived Bonferroni correction for multiple comparisons. As the first study between GRHL3 and NSCL/P, the contribution of this gene to NSCL/P etiology should be interpreted with caution based on existing evidence. Further, the robustness of association between GRHL3 and NSCL/P should be further validated in expanded cohorts.

  7. Older adults' experiences of living with cleft lip and palate: a qualitative study exploring aging and appearance.

    PubMed

    Hamlet, Claire; Harcourt, Diana

    2015-03-01

    Objective : To explore older adults' experiences of living with cleft lip and/or palate (CL/P), focusing on aging and appearance. Design : An exploratory-descriptive qualitative study. Participants : Individual semi-structured interviews (five via telephone, one face-to-face) conducted with six adults between the ages of 57 and 82 years. Results : Interview transcripts were analyzed using interpretative phenomenological analysis, which resulted in five themes: cleft across the life span, keeping up appearances, being one of a kind, resilience and protection, and cleft in an ever-changing society. A CL/P had an ongoing impact on participants' lives, although its relevance shifted over time and some aspects of life (e.g., romantic relationships, decisions about having children of their own) were particularly affected. Participants seemed at ease living with CL/P as an older adult and considered it an important aspect of their identity, yet they still described feeling isolated at times and had little contact with other people with a cleft. They felt that health care could be more considerate to the needs of older people with a cleft, particularly around dentistry and information provision. Participants thought societal attitudes toward visible differences had changed over the years, but not necessarily for the better. A paradox was evident between reports of being noticed by others because of their cleft and simultaneously feeling invisible or ignored because of their age. Conclusions : These findings have implications for provision of care for older adults with a CL/P and for younger people with a CL/P who will be the older generation of the future.

  8. 2012 American Board of Pediatric Dentistry College of Diplomates annual meeting: the role of pediatric dentists in the presurgical treatment of infants with cleft lip/cleft palate utilizing nasoalveolar molding.

    PubMed

    Ahmed, Mohammad M; Brecht, Lawrence E; Cutting, Court B; Grayson, Barry H

    2012-01-01

    The pediatric dentist plays a crucial role in the treatment and management of infants born with cleft deformities of the lip, alveolus, and palate. At New York University Langone Medical Center in New York City, 70% of infants with cleft lip/cleft palate (CLCP) are detected on prenatal ultrasound analysis. Thus, the role of the pediatric dentist can start as early as prenatal counseling. Nasoalveolar molding (NAM) is delivered during the first 3 to 5 months of life. During this stage of treatment, the pediatric dentist establishes the foundation of the “cleft dental” home and initiates the first stage of anticipatory guidance. Consequently, parents are educated and motivated to initiate oral hygiene care upon eruption of the first primary teeth. The purpose of this paper was to describe the role of the pediatric dentist in performing nasoalveolar molding and also describe its indications, appliance design, fabrication, biomechanics, complications, and patient management.

  9. [Orthodontic awareness of the parents whose children suffer from cleft palate and are treated at orthodontic clinics--preliminary communication].

    PubMed

    Stasik, Jolanta

    2002-01-01

    Cleft palate or lip constitutes circa 65% of congenital developmental anomalies in facial skeleton. This defect requires a long, complicated and team treatment, which calls for the parents' sufficient knowledge and awareness. We checked what opinions and knowledge concerning the treated defect of their children the parents have. The children were treated in the Orthodontic Clinic in Zabrze. The survey was conducted in 230 families. Beside answering the typical demographic questions the people were asked to describe the type of defect, give the reasons for its appearance and its influence on the child's life. In all cases the parents correctly defined the type of defect. Most of their knowledge came from conversations/consultations with doctors, only a small percentage gained knowledge from other sources (books, brochures, etc.). When analysing the parents' answers one can notice that there's little knowledge concerning the cause of the cleft. Whereas they seem to have more knowledge regarding the treatment, complications and the child's functioning within the society. The fact that the people directly affected by this problem have such a small knowledge of the causes of cleft indicates a need for broader education. It seems that a possible preventive educational action concerning the factors increasing the risk of cleft occurrence, the possibilities to eliminate the danger and necessity of treatment should concentrate on small towns and villages.

  10. Orthodontic Considerations for Maxillary Distraction Osteogenesis in Growing Patients with Cleft Lip and Palate Using Internal Distractors

    PubMed Central

    Silveira, Adriana da; Moura, Pollyana Marques de; Harshbarger, Raymond J.

    2014-01-01

    The orthodontist plays a key role in the selection of the optimal treatment for patients followed by a craniofacial team. For patients with cleft lip and palate, the need for multidisciplinary treatment planning and sequentially staged treatment is essential for successful patient outcomes. The technique of Le Fort I distraction osteogenesis of the maxilla using an internal device is potentially a predictable, stable, and convenient option for the correction of severe maxillary hypoplasia. It is an alternative option for treatment of maxillary hypoplasia in growing patients. In this article, the authors describe the orthodontist's approach to the management of cleft patients with severe maxillary deficiency with the use of an internal distraction device. The information is presented with a focus on the clinical aspects of treatment, using case illustrations and appropriate literature. PMID:25383056

  11. Modified silk fibroin scaffolds with collagen/decellularized pulp for bone tissue engineering in cleft palate: Morphological structures and biofunctionalities.

    PubMed

    Sangkert, Supaporn; Meesane, Jirut; Kamonmattayakul, Suttatip; Chai, Wen Lin

    2016-01-01

    Cleft palate is a congenital malformation that generates a maxillofacial bone defect around the mouth area. The creation of performance scaffolds for bone tissue engineering in cleft palate is an issue that was proposed in this research. Because of its good biocompatibility, high stability, and non-toxicity, silk fibroin was selected as the scaffold of choice in this research. Silk fibroin scaffolds were prepared by freeze-drying before immerging in a solution of collagen, decellularized pulp, and collagen/decellularized pulp. Then, the immersed scaffolds were freeze-dried. Structural organization in solution was observed by Atomic Force Microscope (AFM). The molecular organization of the solutions and crystal structure of the scaffolds were characterized by Fourier transform infrared (FT-IR) and X-ray diffraction (XRD), respectively. The weight increase of the modified scaffolds and the pore size were determined. The morphology was observed by a scanning electron microscope (SEM). Mechanical properties were tested. Biofunctionalities were considered by seeding osteoblasts in silk fibroin scaffolds before analysis of the cell proliferation, viability, total protein assay, and histological analysis. The results demonstrated that dendrite structure of the fibrils occurred in those solutions. Molecular organization of the components in solution arranged themselves into an irregular structure. The fibrils were deposited in the pores of the modified silk fibroin scaffolds. The modified scaffolds showed a beta-sheet structure. The morphological structure affected the mechanical properties of the silk fibroin scaffolds with and without modification. Following assessment of the biofunctionalities, the modified silk fibroin scaffolds could induce cell proliferation, viability, and total protein particularly in modified silk fibroin with collagen/decellularized pulp. Furthermore, the histological analysis indicated that the cells could adhere in modified silk fibroin

  12. Orthopedic intrusion of premaxilla with distraction devices before alveolar bone grafting in patients with bilateral cleft lip and palate.

    PubMed

    Liou, Eric Jein-Wein; Chen, Philip K T; Huang, C Shing; Chen, Y Ray

    2004-03-01

    Surgical repositioning of the downward displaced premaxilla in bilateral cleft lip and palate patients remains a controversial and perplexing issue because of its detrimental effects on the growth of the premaxilla. The purpose of this prospective clinical study was to introduce and evaluate the treatment results of an innovative technique for nonsurgically intruding the downward displaced premaxilla. Eight consecutive cases of bilateral cleft lip and palate at the age of mixed dentition were included for the correction of their premaxillary deformities. A pair of intraoral tooth-borne distraction devices was used for the orthopedic intrusion. Serial lateral and posteroanterior cephalometric radiographs were taken periodically for evaluating the growth of the premaxilla 1 year before the intrusion, changes during the intrusion, and growth/relapse up to 1 year after the intrusion. There was no overgrowth of the premaxilla or overeruption of the maxillary incisors during the 1-year observing period before the orthopedic intrusion. The treatment results revealed that the downward displaced premaxillae were all corrected within 1 month. Cephalometrically, 46 percent of the correction resulted from a true orthopedic intrusion and another 54 percent from a dentoalveolar effect in which the maxillary incisors were intruded and the premaxillary dentoalveolus was shortened. The cephalometric evaluations also implied that what occurred during the orthopedic intrusion was mostly the sutural contraction osteogenesis/osteolysis in the vomeropremaxillary suture combined with slightly mechanical upward displacement of the vomeronasal septum complex and nasal bones. The orthopedic intrusion of the premaxilla with distraction devices is an effective nonsurgical method for correcting the downward displaced premaxilla before alveolar bone grafting in patients with bilateral cleft lip and palate, and the results remained stable after 1 year.

  13. [The state of the nasal cavity and paranasal sinuses in the children presenting with congenital cleft of upper lip and palate].

    PubMed

    Bogoroditskaya, A V; Sarafanova, M E; Radtsig, E Yu; Prityko, A G

    2015-01-01

    The objective of the present study was to evaluate the state of the nasal cavity and paranasal sinuses in the children presenting with congenital cleft of upper lip and palate (CLP). A total of 23 children at the age from 9 to 16 years who had undergone the surgical treatment of the above malformations during the first year of life were examined. The comprehensive study including routine ENT examination, endoscopic examination of the nasal cavity and nasopharynx, and computed tomography has demonstrated that 50% of the patients with congenital cleft of upper lift and palate suffered the deflection of the nasal septum associated with hyperplasia of inferior turbinal bones. The children with congenital cleft of upper lip and palate were characterized by enhanced pneumatization of the anterior end of the middle turbinate despite the absence of well apparent differences between their paranasal sinuses and those of the healthy children, with the degree of pneumatization being consistent with the patient's age in both groups.

  14. 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.

  15. Analysis of the size variability of the human normal and cleft palate fetal nasal capsule by means of three-dimensional computer reconstruction of histologic preparations.

    PubMed

    Siegel, M I; Mooney, M P; Kimes, K R; Todhunter, J

    1987-07-01

    As part of an ongoing study of cleft palate fetal morphology, normal and dysmorphic development of the human fetal nasal capsule was studied in a cross-sectional sample of 29 human fetuses (20 "normal" and 9 cleft), ranging in age from 8 to 21 postmenstrual weeks. The specimens were celloidin embedded, sectioned at 20 microns, and every tenth section stained with hematoxylin and eosin. A computer reconstruction technique was applied to produce three-dimensional representations of the nasal capsule, nasal septal cartilage, and nasal airway. Qualitatively, the cleft palate nasal capsule exhibited gross abnormalities including cartilaginous nasal septum deformities, abnormal septal volume and hypertrophy, reduced nasal airway and capsule volumes, and abnormal spatial relationships between the nasal capsule components. These results suggest that the reduced nasal airways, noted clinically in cleft perinates, may be a function of an interaction of nasal capsule deficiency and nasal septum hypertrophy. However, when lengths and volumes were plotted against fetal postmenstrual age, producing fetal "growth" curves, no significant differences (p greater than 0.05) were noted for growth rates (slopes) or nasal capsule size between the normal and cleft palate fetal samples. Curvilinear regression analysis revealed that both normal and cleft palate nasal capsule and septum lengths changed in a sigmoidal fashion, with the steepest increases from 13 to 17 weeks. In contrast, nasal capsule, airway, and septum volumes changed curvilinearly, showing slow relative growth rates from 8 to 17 weeks, which increased sharply from 18 to 21 weeks. Results suggest that from 8 to 21 weeks prenatally, normal and cleft palate specimens exhibited a similar pattern of fetal nasal capsule development that was characterized by an initial anteroposterior elongation followed by circumferential (i.e., volumetric) growth.

  16. Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

    PubMed Central

    Mangold, Elisabeth; Böhmer, Anne C.; Ishorst, Nina; Hoebel, Ann-Kathrin; Gültepe, Pinar; Schuenke, Hannah; Klamt, Johanna; Hofmann, Andrea; Gölz, Lina; Raff, Ruth; Tessmann, Peter; Nowak, Stefanie; Reutter, Heiko; Hemprich, Alexander; Kreusch, Thomas; Kramer, Franz-Josef; Braumann, Bert; Reich, Rudolf; Schmidt, Gül; Jäger, Andreas; Reiter, Rudolf; Brosch, Sibylle; Stavusis, Janis; Ishida, Miho; Seselgyte, Rimante; Moore, Gudrun E.; Nöthen, Markus M.; Borck, Guntram; Aldhorae, Khalid A.; Lace, Baiba; Stanier, Philip; Knapp, Michael; Ludwig, Kerstin U.

    2016-01-01

    Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. Recently, ∼5% of VWS-affected individuals were identified with mutations in the grainy head-like 3 gene (GRHL3). To investigate GRHL3 in nonsyndromic clefting, we sequenced its coding region in 576 Europeans with nsCL/P and 96 with nsCPO. Most strikingly, nsCPO-affected individuals had a higher minor allele frequency for rs41268753 (0.099) than control subjects (0.049; p = 1.24 × 10−2). This association was replicated in nsCPO/control cohorts from Latvia, Yemen, and the UK (pcombined = 2.63 × 10−5; ORallelic = 2.46 [95% CI 1.6–3.7]) and reached genome-wide significance in combination with imputed data from a GWAS in nsCPO triads (p = 2.73 × 10−9). Notably, rs41268753 is not associated with nsCL/P (p = 0.45). rs41268753 encodes the highly conserved p.Thr454Met (c.1361C>T) (GERP = 5.3), which prediction programs denote as deleterious, has a CADD score of 29.6, and increases protein binding capacity in silico. Sequencing also revealed four novel truncating GRHL3 mutations including two that were de novo in four families, where all nine individuals harboring mutations had nsCPO. This is important for genetic counseling: given that VWS is rare compared to nsCPO, our data suggest that dominant GRHL3 mutations are more likely to cause nonsyndromic than syndromic CPO. Thus, with rare dominant mutations and a common risk variant in the coding region, we have identified an important contribution for GRHL3 in nsCPO. PMID:27018475

  17. [Sequels of labial-alveolar-velopalatine clefts observed in charity missions. Analysis and management].

    PubMed

    Saboye, J; Chancholle, A-R

    2007-09-01

    A lot of children with cleft lip and palate are not operated in the developing world, due to a lack of surgeons, hospitals, or simply because the condition is not considered as a priority. Charity missions give the opportunity to repair these malformations. Non-operated cleft lip and palate are the first problem, but our surgery may cause growth disturbances and sometimes a second operation is needed, more difficult than the first one in mission conditions. Repairing a cleft palate needs to be adapted to the type of cleft but also to the age of the child, a velopalatine pharyngoplasty can be performed in some cases.

  18. Lower concentrations of receptor for advanced glycation end products and epiregulin in amniotic fluid correlate to chemically induced cleft palate in mice.

    PubMed

    Wang, Xinhuan; Zhu, Jingjing; Fang, Yanjun; Bian, Zhuan; Meng, Liuyan

    2017-02-28

    This study investigated the correlation between differentially expressed proteins in amniotic fluid (AF) and cleft palate induced by all-trans retinoic acid (atRA), and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) in mice. Seven proteins were differentially expressed at embryonic day (E) 16.5 in atRA and control groups as revealed by label-based mouse antibody array. Enzyme-linked immunosorbent assay was further used to detect the expression levels of these proteins in AF from E13.5 to E16.5 in atRA, TCDD, and control groups. The cleft palate groups showed lower concentrations of receptor for advanced glycation end products (RAGE) and epiregulin at E16.5. RAGE immunostaining obviously decreased in palatal tissue sections obtained from E14.5 to E16.5 in the cleft palate groups as revealed by immunohistochemistry. These findings indicate that reduced levels of RAGE and epiregulin in AF are correlated to chemically induced cleft palate in mice.

  19. Sociological aspects of cleft palate adults. III. Vocational and economic aspects.

    PubMed

    Peter, J P; Chinsky, R R; Fisher, M J

    1975-04-01

    Vocational and economic aspects of social functioning were evaluated for 196 adult cleft subjects, their 190 siblings and 209 random controls. Results indicated that cleft adults functioned within normal limits with regard to employment. However, levels of income were substantively lower than control groups. Cleft subjects compare favorably with their siblings and random controls in occupational mobility over the levels attained by their fathers. It would appear that cleft subjects experience some limitation in their ability to secure vocational and economic rewards from society.

  20. An Analysis of the Frame-Content Theory in Babble of Nine-Month-Old Babies with Cleft Lip and Palate

    PubMed Central

    Stout, Gwendolyn; Hardin-Jones, Mary; Chapman, Kathy L.

    2011-01-01

    The aim of this study was to examine the consonant-vowel co-occurrence patterns predicted by the Frame-Content theory in 16 nine-month-old babies with unrepaired cleft palatecleft lip) and 16 age-matched non-cleft babies. Babble from these babies was phonetically transcribed and grouped according to the intrasyllabic predictions of the theory (labial-central, alveolar-front, and velar-back). Both groups demonstrated the three consonant-vowel co-occurrence patterns predicted by the Frame-Content theory. Other patterns not predicted by the Frame-Content theory emerged as strong patterns as well. PMID:21889772

  1. Comparison of videonasoendoscopy and auditory-perceptual evaluation of speech in individuals with cleft lip/palate

    PubMed Central

    Paniagua, Lauren Medeiros; Signorini, Alana Verza; Costa, Sady Selaimen da; Collares, Marcus Vinicius Martins; Dornelles, Sílvia

    2013-01-01

    Summary Introduction: The velopharyngeal sphincter (VPS) is a muscle belt located between the oropharynx and the nasopharynx. Investigations of velopharyngeal function should include an auditory-perceptual evaluation and at least 1 instrument-based evaluation such as videonasoendoscopy. Aim: To compare the findings of auditory-perceptual evaluation (hypernasality) and videonasoendoscopy (gap size) in individuals with cleft lip/palate. Method: This was a retrospective, cross-sectional study assessing 49 subjects, of both sexes, with cleft lip/palate followed up at the Otorhinolaryngology Service and the Speech Therapy outpatient clinic of Hospital de Clínicas de Porto Alegre (HCPA). The results from the auditory-perceptual evaluation and the videonasoendoscopy test were compared with respect to the VPS gap size. Results: Subjects with moderate/severe hypernasality had more severe velopharyngeal closure impairment than those with a less severe condition. The interaction between hypernasality severity and the presence of other speech disorders (p = 0.035), whether compensatory and/or obligatory, increased the likelihood of having a moderate-to-large gap in the velopharyngeal closure. Conclusions: We observed an association between the findings of these 2 evaluation methods. PMID:25992023

  2. Deficiency of the beta 3 subunit of the type A gamma-aminobutyric acid receptor causes cleft palate in mice.

    PubMed

    Culiat, C T; Stubbs, L J; Woychik, R P; Russell, L B; Johnson, D K; Rinchik, E M

    1995-11-01

    In addition to its function in the nervous system, gamma-aminobutyric acid (GABA) has been implicated in mouse craniofacial development by the results of both teratological, and genetic studies. We previously reported that disruption of the cleft palate 1 (cp1) locus, closely linked to the pink-eyed dilution (p) locus on mouse chromosome 7, causes a 95% penetrant, recessive, neonatally-lethal cleft palate (CP) in mice homozygous for the p(4THO-II) deletion. We proposed that the beta 3 subunit gene (Gabrb3) of the GABAA receptor might be a candidate for cp1 (ref. 4); our earlier studies had localized cp1 to an interval beginning distal to the gene for the GABAA receptor alpha 5 subunit (Gabra5) and ending within the Gabrb3 coding region. To test the hypothesis that deletion of Gabrb3, and not another gene in the interval, causes CP, we performed an experiment to rescue the CP phenotype by introducing a Gabrb3 transgene into p(4THO-II) homozygotes. We now show that such transgenic mice are phenotypically normal, indicating that Gabrb3 is indeed the cp1 locus.

  3. Assessment of the Airway Characteristics in Children with Cleft Lip and Palate using Cone Beam Computed Tomography

    PubMed Central

    Marwah, Nikhil

    2016-01-01

    ABSTRACT Objective: The aim of our study is to use cone beam computed tomography (CBCT) to assess the dimensional changes in the nasopharyngeal soft-tissue characteristics in children of Indian origin with repaired cleft lip and palate (CLP) and to compare the results with patients with ideal occlusion. Materials and methods: A sample of 20 children (10 girls, 10 boys) with repaired CLP was selected. Cone beam computed tomography scans were taken to measure the nasopharyngeal airway changes in terms of linear measurements and sagittal cross-sectional areas. Error analysis was performed to prevent systematic or random errors. Independent means t-tests and Pearson correlation analysis were used to evaluate sex differences and the correlations among the variables. Results: Nasopharyngeal soft-tissue characteristics were different in the control and the study groups. Subjects with repaired CLP had lesser lower aerial width, lower adenoidal width and lower airway width. The upper airway width was also significantly lesser. The retropalatal and the total airway area were significantly greater in the control group. Conclusion: The narrow pharyngeal airway in patients with CLP might result in functional impairment of breathing in patients. Further investigations are necessary to clarify the relationship between pharyngeal structure and airway function in patients with CLP. How to cite this article: Agarwal A, Marwah N. Assessment of the Airway Characteristics in Children with Cleft Lip and Palate using Cone Beam Computed Tomography. Int J Clin Pediatr Dent 2016;9(1):5-9. PMID:27274147

  4. Use of a modified Furlow Z-plasty as a secondary cleft palate repair procedure to reduce velopharyngeal insufficiency.

    PubMed

    Reddy, R R; Reddy, S G; Banala, B; Bronkhorst, E; Kummer, A W; Kuijpers-Jagtman, A M; Bergé, S J

    2016-02-01

    Cleft palate repair is done to allow for normal speech by separating the oral and nasal cavities and creating a functioning velopharyngeal valve. However, despite cleft palate repair, some patients demonstrate velopharyngeal insufficiency (VPI). An attempt was made to determine the effectiveness of a modified secondary Furlow Z-plasty in improving VPI. Fifty-five children aged between 12 and 15 years, with postoperative VPI following primary palatoplasty, were included in the study. These children underwent a modified Furlow Z-plasty. Nasometry was done to determine the change in velopharyngeal function due to the secondary Furlow Z-plasty by comparing the preoperative with the 1-year postoperative nasalance scores. A test-retest study was performed to determine the reliability of the nasometric measures. Reliability measurements of the nasometer passages revealed good reliability for 18 out of the 25 speech passages. There was a statistically significant reduction in VPI at 1 year postoperative in patients who were treated with the modified Furlow Z-plasty, with a P-value of <0.001 in all passages, except velar plosives, which had a P-value of 0.002. Patients with VPI after primary palatoplasty and treated using a modified Furlow Z-plasty had significantly lower nasalance scores at 1 year postoperative, indicating significantly improved velopharyngeal function.

  5. The Young Child with Cleft Lip and Palate: Intervention Needs in the First Three Years.

    ERIC Educational Resources Information Center

    Edmonson, Rebecca; Reinhartsen, Debra

    1998-01-01

    Discusses the multiple medical, dental, therapeutic, psychosocial, and early intervention needs faced by children with cleft lip and cleft plate during the first three years of life. The physiological development of children with these disabilities is described and the need for interdisciplinary team involvement is emphasized. (Author/CR)

  6. Association of single-nucleotide polymorphisms of CDH1 with nonsyndromic cleft lip with or without cleft palate in a northern Chinese Han population

    PubMed Central

    Song, Hongquan; Wang, Xiaotong; Yan, Jiaqun; Mi, Na; Jiao, Xiaohui; Hao, Yanru; Zhang, Wei; Gao, Yuwei

    2017-01-01

    Abstract Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital malformation among live births, and depends on race and ethnic background. The CDH1 gene plays a vital role in orofacial development. Our research was conducted to examine the association between 3 single-nucleotide polymorphisms in the CDH1 gene and NSCL/P. Methods: Three single-nucleotide polymorphisms (rs16260, rs9929218, and rs1801552) of the CDH1 gene were genotyped using the Snapshot mini-sequencing technique in 331 patients with NSCL/P and 271 controls from the northern Chinese Han population. Results: The investigation indicated that presence of the CDH1 rs1801552 TT genotype under the assumption of a recessive model is related to the decreased risk for NSCL/P (odds ratio 0.53, 95% confidence interval 0.34–0.81, P = 0.003). The results were still significant after the Bonferroni correction for multiple comparisons. However, nonsignificant differences in rs16260 and rs9929218 were found between cases and controls. Conclusion: Our study demonstrates that the CDH1 polymorphisms were significantly associated with the risk of NSCL/P in the northern Chinese Han population. We provide further evidence regarding the role of CDH1 variations in the development of NSCL/P in a northern Chinese Han population. PMID:28151848

  7. No association between polymorphisms in cubilin, a gene of the homocysteine metabolism and the risk of non-syndromic cleft lip with or without cleft palate.

    PubMed

    Martinelli, M; Carinci, F; Morselli, P G; Palmieri, A; Girardi, A; Riberti, C; Scapoli, L

    2011-01-01

    Epidemiological studies have correlated lower maternal periconceptional levels of plasma folate and cobalamin with increased risk of delivering offspring presenting congenital malformations such as cleft lip with or without cleft palate (CL/P) or neural tube defects. A number of genetic studies aimed at correlating these biochemical levels or the occurrence of malformations with specific genetic defects or polymorphisms have been successfully performed. The cubilin gene (CUBN) codes for a carrier that plays a crucial role in cobalamin cell internalization. CUBN polymorphisms were previously found to be associated with spina bifida occurrence. In this work, a family-based association study was performed to test CUBN involvement in CL/P. A sample of 391 CL/P triads was investigated with three single nucleotide polymorphisms mapping on the cubilin gene. Association tests indicated no significant association between CL/P and marker alleles or marker haplotypes. No evidence of maternal effect and imprinting were obtained. These data suggest that CUBN is not involved in CL/P onset in the investigated Italian population.

  8. Nasoalveolar molding for infants born with clefts of the lip, alveolus, and palate.

    PubMed

    Grayson, Barry H; Maull, Deirdre

    2004-04-01

    The principle objective of presurgical nasoalveolar molding (NAM) is to reduce the severity of the initial cleft deformity. This enables the surgeon and the patient to enjoy the benefits associated with a repair of a cleft deformity that is of minimal severity. Retraction of the premaxilla, presurgical elongation of the columella, correction of the nasal cartilage deformity, alignment of the cleft alveolar segments, increase in the surface area of the nasal mucosal lining, up-righting of the columella, and achieving close approximation of the cleft lip segments at rest result from gentle application of forces through the NAM appliance. Preservation of these presurgical changes is achieved through the coordinated and modified surgical technique of the primary cleft repair.

  9. Feeling Normal? Long-Term Follow-up of Patients with a Cleft Lip-Palate after Rhinoplasty with the Derriford Appearance Scale (DAS-59).

    PubMed

    Albers, Andreas E; Reichelt, Andreas C; Nolst-Trenité, Gilbert J; Menger, Dirk Jan

    2016-04-01

    The stigma of nasal deformity due to a congenital cleft lip-palate has an undeniable influence on the affected patient's life. It is therefore of interest to investigate if efforts to reduce esthetic and functional impairments by rhinoplasty (single or multiple) can result in an increased satisfaction with appearance and a self-perception similar to the noncleft population. Retrospective scoring before and after rhinoplasty using the validated Derriford Appearance Scale (DAS-59) and subsequent statistical evaluation and comparison to datasets available in the literature for further classification was used. Of the 61 patients who underwent at least one rhinoplasty, 26 responded to all questions. The mean age of responders was approximately 30 years of age and the male:female ratio was 1:1.2. The scale showed a significant overall improvement after surgery. The full scale and all subscale scores of the DAS-59 were significantly reduced after surgery demonstrating an improvement in the respective categories. Most importantly, if postoperative results were compared with a population concerned and unconcerned about appearance, no difference "facial self-consciousness" of appearance was apparent. Also postoperative subscores for "general self-consciousness" (GSC) and "social self-consciousness" of appearance (SSC) showed no difference from those obtained from the population concerned about appearance. The postoperative subscore for "sexual and bodily self-consciousness" of appearance (SBSC) indicated improvement beyond the level found in the concerned control population. Due to only a low improvement in the difference compared with the subscore representing a "negative self-concept," a statistically significant difference to the concerned population remained, possibly indicating that therapy beyond surgery is needed for improvement. After rhinoplasty, the investigated group of cleft lip-palate patients with nasal deformities showed an improvement in their self

  10. A phonetic investigation of single word versus connected speech production in children with persisting speech difficulties relating to cleft palate.

    PubMed

    Howard, Sara

    2013-03-01

    Objective : To investigate the phonetic and phonological parameters of speech production associated with cleft palate in single words and in sentence repetition in order to explore the impact of connected speech processes, prosody, and word juncture on word production across contexts. Participants : Two boys (aged 9 years 5 months and 11 years 0 months) with persisting speech impairments related to a history of unilateral cleft lip and palate formed the main focus of the study; three typical adult male speakers provided control data. Method : Audio, video, and electropalatographic recordings were made of the participants producing single words and repeating two sets of sentences. The data were transcribed and the electropalatographic recordings were analyzed to explore lingual-palatal contact patterns across the different speech conditions. Acoustic analysis was used to further inform the perceptual analysis and to make specific durational measurements. Results : The two boys' speech production differed across the speech conditions. Both boys showed typical and atypical phonetic features in their connected speech production. One boy, although often unintelligible, resembled the adult speakers more closely prosodically and in his specific connected speech behaviors at word boundaries. The second boy produced developmentally atypical phonetic adjustments at word boundaries that appeared to promote intelligibility at the expense of naturalness. Conclusion : For older children with persisting speech impairments, it is particularly important to examine specific features of connected speech production, including word juncture and prosody. Sentence repetition data provide useful information to this end, but further investigations encompassing detailed perceptual and instrumental analysis of real conversational data are warranted.

  11. Early, computer-Aided Design/Computer-Aided Modeling Planned, Le Fort I Advancement With Internal Distractors to Treat Severe Maxillary Hypoplasia in Cleft Lip and Palate.

    PubMed

    Chang, Catherine S; Swanson, Jordan; Yu, Jason; Taylor, Jesse A

    2017-04-11

    Traditionally, maxillary hypoplasia in the setting of cleft lip and palate is treated via orthognathic surgery at skeletal maturity, which condemns these patients to abnormal facial proportions during adolescence. The authors sought to determine the safety profile of computer-aided design/computer-aided modeling (CAD/CAM) planned, Le Fort I distraction osteogenesis with internal distractors in select patients presenting at a young age with severe maxillary retrusion. The authors retrospectively reviewed our "early" Le Fort I distraction osteogenesis experience-patients performed for severe maxillary retrusion (≥12 mm underjet), after canine eruption but prior to skeletal maturity-at a single institution. Patient demographics, cleft characteristics, CAD/CAM operative plans, surgical complications, postoperative imaging, and outcomes were analyzed. Four patients were reviewed, with a median age of 12.8 years at surgery (range 8.6-16.1 years). Overall mean advancement was 17.95 + 2.9 mm (range 13.7-19.9 mm) with mean SNA improved 18.4° to 87.4 ± 5.7°. Similarly, ANB improved 17.7° to a postoperative mean of 2.4 ± 3.1°. Mean follow-up was 100.7 weeks, with 3 of 4 patients in a Class I occlusion with moderate-term follow-up; 1 of 4 will need an additional maxillary advancement due to pseudo-relapse. In conclusion, Le Fort I distraction osteogenesis with internal distractors is a safe procedure to treat severe maxillary hypoplasia after canine eruption but before skeletal maturity. Short-term follow-up demonstrates safety of the procedure and relative stability of the advancement. Pseudo-relapse is a risk of the procedure that must be discussed at length with patients and families.

  12. Current Training and Continuing Education Needs of Preschool and School-Based Speech-Language Pathologists regarding Children with Cleft Lip/Palate

    ERIC Educational Resources Information Center

    Bedwinek, Anne P.; Kummer, Ann W.; Rice, Gale B.; Grames, Lynn Marty

    2010-01-01

    Purpose: The purpose of this study was to obtain information regarding the education and experience of preschool and school-based speech-language pathologists (SLPs) regarding the assessment and treatment of children born with cleft lip and/or palate and to determine their continuing education needs in this area. Method: A 16-item mixed-methods…

  13. Is Presurgery and Early Postsurgery Performance Related to Speech and Language Outcomes at 3 Years of Age for Children with Cleft Palate?

    ERIC Educational Resources Information Center

    Chapman, Kathy

    2004-01-01

    This study examined the relationship between presurgery speech measures and speech and language performance at 39 months as well as the relationship between early postsurgery speech measures and speech and language performance at 39 months of age. Fifteen children with cleft lip and palate participated in the study. Spontaneous speech samples were…

  14. RETINOIC ACID INDUCTION OF CLEFT PALATE IN EGF AND TGF-ALPHA KNOCKOUT MICE: STAGE SPECIFIC INFLUENCES OF GROWTH FACTOR EXPRESSION

    EPA Science Inventory

    ABBOTT, B. D., LEFFLER, K.E. AND BUCKALEW, A.R, Reproductive Toxicology Division, NHEERL, ORD, US EPA, Research Triangle Park, North Carolina. Retinoic acid induction of cleft palate (CP) in EGF and TGF knockout mice: Stage specific influences of growth factor expression.
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  15. Causal Inferences from Mining ToxCast Data and the Biomedical Literature for Molecular Pathways and Cellular Processes in Cleft Palate (SOT)

    EPA Science Inventory

    Sixty-five chemicals in the ToxCast high-throughput screening (HTS) dataset have been linked to cleft palate based on data from ToxRefDB (rat or rabbit prenatal developmental toxicity studies) or from literature reports. These compounds are structurally diverse and thus likely to...

  16. Gender Issues in Parenting Cleft Lip and Palate Babies in Southern Nigeria: A Study of the University of Benin Teaching Hospital

    ERIC Educational Resources Information Center

    Umweni, A. A.; Okeigbemen, S. A.

    2009-01-01

    There is a scarcity of studies on gender issues in parenting cleft lip and palate (CLAP) babies. The birth of a CLAP child presents an immediate visible handicap that is distressing to parents. The aims and objectives of this study are to determine the influence of gender on the attitude of parents on the birth of CLAP babies, to articulate the…

  17. Proceedings of the Conference: Communicative Problems in Cleft Palate (Washington, D.C., July 10-12, 1963). American Speech and Hearing Association Reports, Number 1.

    ERIC Educational Resources Information Center

    Green, Diane, Ed.

    Introductory material by Jack Matthews points out common interests between the fields of dentistry and communication disorders. Physical aspects of cleft palate are explored in papers concerning anatomy and growth, by Robert F. Hagerty; infant respiratory actions, by James F. Bosma, H.M. Truby, and John Lind; contemporary dental research, by…

  18. Structure and Function of the Superior Temporal Plane in Adult Males with Cleft Lip and Palate: Pathologic Enlargement with No Relationship to Childhood Hearing Deficits

    ERIC Educational Resources Information Center

    Shriver, A. S.; Canady, J.; Richman, L.; Andreasen, N. C.; Nopoulos, P.

    2006-01-01

    Background: In a previous study from our lab, adult males with non-syndromic cleft lip and/or palate (NSCLP) were shown to have significantly lower temporal lobe gray matter volume than matched controls. The current study was designed to begin a regional analysis of specific subregions of the temporal lobe. The superior temporal plane (STP) is a…

  19. Factors related to quality of life and satisfaction with nasal appearance in patients treated for unilateral cleft lip and palate.

    PubMed

    Mani, Maria; Reiser, Erika; Andlin-Sobocki, Anna; Skoog, Valdemer; Holmström, Mats

    2013-07-01

    Objective : To identify factors related to quality of life (QoL) and satisfaction with nasal appearance among patients treated for unilateral cleft lip and palate (UCLP). Design : Cross-sectional population study with long-term follow-up. Patients/Settings : All patients with UCLP born between 1960 and 1987, treated at Uppsala University Hospital, were invited (n  =  109); 86 (79%) participated. Mean follow-up time was 35 years. Main Outcome Measures : Quality of life was measured with Short Form-36 (SF-36) and analyzed using mental and physical cluster scores (MCS and PCS). Nasal appearance was self-assessed with the "Satisfaction With Appearance" questionnaire and by panel judgment. Multivariate regression analyses explored endogenous factors (age, gender, infancy cleft width, nasal function, nasolabial appearance) and exogenous factors (marital status, number of children, education level, operation method, number of rhinoplasties performed). Results : A larger cleft width in infancy was associated with less satisfaction with nasal appearance as adults. A lower mental health QoL was associated with less satisfaction with nasal appearance. Despite female gender being linked to less satisfaction with nasal appearance, it was associated with higher mental health QoL. Higher resistance during nasal breathing was associated with lower physical health QoL. Conclusions : Gender and infant cleft width may affect QoL and satisfaction with nasal appearance among adults. They are potential predictive factors for satisfaction with nasal appearance and QoL during adulthood. The correlation of nasal function impairment and decreased physical health QoL underlines the importance of treatment of nasal symptoms in these patients.

  20. Minimum standards for the management of cleft lip and palate: efforts to close the audit loop. Royal College of Surgeons of England.

    PubMed Central

    Shaw, W. C.; Williams, A. C.; Sandy, J. R.; Devlin, H. B.

    1996-01-01

    Intercentre audit in the late 1980s revealed poorer outcomes for facial growth for British patients with cleft lip and palate than equivalent patients in northern Europe. A subsequent survey of the surgical practices in England and Wales, under the auspices of the Surgical Audit and Epidemiology Unit, revealed the widespread involvement of low-volume operators in cleft care, a tendency for low-volume operators to have an incomplete network of associated professionals, and non-standardised record keeping protocols. Recommendations for minimum standards of care for children born with cleft lip and palate were produced by a multidisciplinary steering group. A further investigation is planned to determine their validity and to provide a baseline for future audit cycles. PMID:8678442

  1. Reading Achievement in Boys With Non-Syndromic Cleft Palate Only: Relationship to Neuropsychological Skill and Neurocircuitry.

    PubMed

    Conrad, Amy L; Richman, Lynn; Nopoulos, Peggy

    2015-01-01

    Reading achievement and neural activation during a reading task were evaluated among boys with isolated cleft palate only (iCP) in comparison to unaffected controls. Ten boys with iCP and 10 unaffected boys between the ages of 8 and 16 years old were assessed. Standardized assessments of intelligence and reading achievement were administered and participants underwent a block-design functional magnetic resonance imaging protocol using non-word rhyming and judgment of line tasks. Among the 10 boys with iCP, reading fluency correlated with phonological awareness and visual memory. Neural activation was increased in regions of the brain associated with a non-fluent/dyslexic reading pattern.

  2. A Preliminary Three-Dimensional Analysis of Nasal Aesthetics Following Le Fort I Advancement in Patients With Cleft Lip and Palate.

    PubMed

    Davidson, Edward; Kumar, Anand R

    2015-10-01

    Nasal aesthetic changes after cleft orthognathic surgery remain understudied. Previous scarring associated with prior cleft surgery may affect the predictability of outcomes after jaw surgery. This study evaluates changes in nasal aesthetics using three-dimensional photography after Le Fort I advancement in patients with nonsyndromic cleft-related maxillary hypoplasia. Cephalometric parameters were recorded pre- and postoperatively. Three-dimensional photogrammetric imaging analyzed changes in interalar width (IAW), internostril width (INW), nasal tip projection (NTP), collumelar length (CL), nasal labial angle (NLA), and nasal length (NL). Statistical significance between pre- and postoperative data was determined using T-tests for each parameter. Eleven patients underwent either single piece Le Fort I osteotomy and advancement, (3 bilateral, 4 unilateral cleft lip, and palate), or 2-piece advancement (2 bilateral, 2 unilateral). Average nasal soft tissue changes were IAW 1.9 mm (0.4-4.2), INW -0.2 mm (-2.8 to 1.6), NTP -1.0 mm (-4.0 to 2.0), CL -0.7 mm (-2.9 to 1.5), NLA -0.2° (-13.9 to 15.1), and NL -0.7 mm (-4.3 to 1.5), (P = 0.001, 0.6, 0.08, 0.01, 0.9, 0.2). For single-piece osteotomy alone changes were IAW 2.1 mm (0.6-4.1), INW -0.6 mm (-2.8 to 1.7), NTP -1.9 mm (-4.0 to 0.3), CL -1.2 mm (-2.9 to 0.03), NLA -1.3° (-13.9 to 15.0), and NL -1.1 mm (-4.3 to 0.7), (P = 0.007, 0.3, 0.009, 0.0002, 0.7, 0.2). For 2-piece osteotomy alone changes were IAW 1.6 mm (-0.4 to 3.3), INW 0.5 mm (0.4-1.6), NTP 0.5 mm (-1.1-2.0), CL 0.2 mm (-1.4 to 1.5), NLA 2.8° (-7.6 to 10.1), and NL -0.1 mm (-1.4 to 1.5), (P = 0.2, 0.4, 0.5, 0.6, 0.5, 0.9). Cleft-related scarring and malposition affect changes in nasal aesthetics following maxillary advancement that are different to the noncleft population. Two-piece Le Fort I increases variability of changes in nasal aesthetics compared with single-piece advancement.

  3. Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Mitra, Amit K.; Stessman, Holly A. F.; Schaefer, Robert J.; Wang, Wen; Myers, Chad L.; Van Ness, Brian G.; Beiraghi, Soraya

    2016-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital birth defects. NSCL/P is a complex multifactorial disease caused by interactions between multiple environmental and genetic factors. However, the causal single nucleotide polymorphism (SNP) signature profile underlying the risk of familial NSCL/P still remains unknown. We previously reported a 5.7-Mb genomic region on chromosome 18q21.1 locus that potentially contributes to autosomal dominant, low-penetrance inheritance of NSCL/P. In the current study, we performed exome sequencing on 12 familial genomes (six affected individuals, two obligate carriers, and four seemingly unaffected individuals) of a six-generation family to identify candidate SNPs associated with NSCL/P risk. Subsequently, targeted bidirectional DNA re-sequencing of polymerase chain reaction (PCR)-amplified high-risk regions of MYO5B gene and sequenom iPLEX genotpying of 29 candidate SNPs were performed on a larger set of 33 members of this NSCL/P family (10 affected + 4 obligate carriers + 19 unaffected relatives) to find SNPs significantly associated with NSCL/P trait. SNP vs. NSCL/P association analysis showed the MYO5B SNP rs183559995 GA genotype had an odds ratio of 18.09 (95% Confidence Interval = 1.86–176.34; gender-adjusted P = 0.0019) compared to the reference GG genotype. Additionally, the following SNPs were also found significantly associated with NSCL/P risk: rs1450425 (LOXHD1), rs6507992 (SKA1), rs78950893 (SMAD7), rs8097060, rs17713847 (SCARNA17), rs6507872 (CTIF), rs8091995 (CTIF), and rs17715416 (MYO5B). We could thus identify mutations in several genes as key candidate SNPs associated with the risk of NSCL/P in this large multi-generation family. PMID:27242896

  4. Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies.

    PubMed

    Brito, Luciano A; Cruz, Lucas A; Rocha, Kátia M; Barbara, Ligia K; Silva, Camila B F; Bueno, Daniela F; Aguena, Meire; Bertola, Débora R; Franco, Diogo; Costa, André M; Alonso, Nivaldo; Otto, Paulo A; Passos-Bueno, Maria Rita

    2011-07-01

    Non-syndromic cleft lip with or without cleft palate (NS CL/P) is a complex disease in which heritability estimates vary widely depending on the population studied. To evaluate the importance of genetic contribution to NS CL/P in the Brazilian population, we conducted a study with 1,042 families from five different locations (Santarém, Fortaleza, Barbalha, Maceió, and Rio de Janeiro). We also evaluated the role of consanguinity and ethnic background. The proportion of familial cases varied significantly across locations, with the highest values found in Santarém (44%) and the lowest in Maceió (23%). Heritability estimates showed a higher genetic contribution to NS CL/P in Barbalha (85%), followed by Santarém (71%), Rio de Janeiro (70%), Fortaleza (64%), and Maceió (45%). Ancestry was not correlated with the occurrence of NS CL/P or with the variability in heritability. Only in Rio de Janeiro was the coefficient of inbreeding significantly larger in NS CL/P families than in the local population. Recurrence risk for the total sample was approximately 1.5-1.6%, varying according to the location studied (0.6-0.7% in Maceió to 2.2-2.8% in Barbalha). Our findings show that the degree of genetic contribution to NS CL/P varies according to the geographic region studied, and this difference cannot be attributed to consanguinity or ancestry. These findings suggest that Barbalha is a promising region for genetic studies. The data presented here will be useful in interpreting results from molecular analyses and show that care must be taken when pooling samples from different populations for association studies.

  5. Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

    PubMed Central

    Yu, Yanqin; Zuo, Xianbo; He, Miao; Gao, Jinping; Fu, Yuchuan; Qin, Chuanqi; Meng, Liuyan; Wang, Wenjun; Song, Yaling; Cheng, Yong; Zhou, Fusheng; Chen, Gang; Zheng, Xiaodong; Wang, Xinhuan; Liang, Bo; Zhu, Zhengwei; Fu, Xiazhou; Sheng, Yujun; Hao, Jiebing; Liu, Zhongyin; Yan, Hansong; Mangold, Elisabeth; Ruczinski, Ingo; Liu, Jianjun; Marazita, Mary L.; Ludwig, Kerstin U.; Beaty, Terri H.; Zhang, Xuejun; Sun, Liangdan; Bian, Zhuan

    2017-01-01

    Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in humans. Here we conduct a GWAS of NSCLP with multiple independent replications, totalling 7,404 NSOFC cases and 16,059 controls from several ethnicities, to identify new NSCLP risk loci, and explore the genetic heterogeneity between sub-phenotypes of NSOFC. We identify 41 SNPs within 26 loci that achieve genome-wide significance, 14 of which are novel (RAD54B, TMEM19, KRT18, WNT9B, GSC/DICER1, PTCH1, RPS26, OFCC1/TFAP2A, TAF1B, FGF10, MSX1, LINC00640, FGFR1 and SPRY1). These 26 loci collectively account for 10.94% of the heritability for NSCLP in Chinese population. We find evidence of genetic heterogeneity between the sub-phenotypes of NSOFC and among different populations. This study substantially increases the number of genetic susceptibility loci for NSCLP and provides important insights into the genetic aetiology of this common craniofacial malformation. PMID:28232668

  6. Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

    PubMed

    Yu, Yanqin; Zuo, Xianbo; He, Miao; Gao, Jinping; Fu, Yuchuan; Qin, Chuanqi; Meng, Liuyan; Wang, Wenjun; Song, Yaling; Cheng, Yong; Zhou, Fusheng; Chen, Gang; Zheng, Xiaodong; Wang, Xinhuan; Liang, Bo; Zhu, Zhengwei; Fu, Xiazhou; Sheng, Yujun; Hao, Jiebing; Liu, Zhongyin; Yan, Hansong; Mangold, Elisabeth; Ruczinski, Ingo; Liu, Jianjun; Marazita, Mary L; Ludwig, Kerstin U; Beaty, Terri H; Zhang, Xuejun; Sun, Liangdan; Bian, Zhuan

    2017-02-24

    Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in humans. Here we conduct a GWAS of NSCLP with multiple independent replications, totalling 7,404 NSOFC cases and 16,059 controls from several ethnicities, to identify new NSCLP risk loci, and explore the genetic heterogeneity between sub-phenotypes of NSOFC. We identify 41 SNPs within 26 loci that achieve genome-wide significance, 14 of which are novel (RAD54B, TMEM19, KRT18, WNT9B, GSC/DICER1, PTCH1, RPS26, OFCC1/TFAP2A, TAF1B, FGF10, MSX1, LINC00640, FGFR1 and SPRY1). These 26 loci collectively account for 10.94% of the heritability for NSCLP in Chinese population. We find evidence of genetic heterogeneity between the sub-phenotypes of NSOFC and among different populations. This study substantially increases the number of genetic susceptibility loci for NSCLP and provides important insights into the genetic aetiology of this common craniofacial malformation.

  7. A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.

    PubMed

    Leslie, Elizabeth J; Liu, Huan; Carlson, Jenna C; Shaffer, John R; Feingold, Eleanor; Wehby, George; Laurie, Cecelia A; Jain, Deepti; Laurie, Cathy C; Doheny, Kimberly F; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R; Neiswanger, Katherine; Standley, Jennifer; Czeizel, Andrew E; Deleyiannis, Frederic; Christensen, Kaare; Munger, Ronald G; Lie, Rolv T; Wilcox, Allen; Romitti, Paul A; Field, L Leigh; Padilla, Carmencita D; Cutiongco-de la Paz, Eva Maria C; Lidral, Andrew C; Valencia-Ramirez, Luz Consuelo; Lopez-Palacio, Ana Maria; Valencia, Dora Rivera; Arcos-Burgos, Mauricio; Castilla, Eduardo E; Mereb, Juan C; Poletta, Fernando A; Orioli, Iêda M; Carvalho, Flavia M; Hecht, Jacqueline T; Blanton, Susan H; Buxó, Carmen J; Butali, Azeez; Mossey, Peter A; Adeyemo, Wasiu L; James, Olutayo; Braimah, Ramat O; Aregbesola, Babatunde S; Eshete, Mekonen A; Deribew, Milliard; Koruyucu, Mine; Seymen, Figen; Ma, Lian; de Salamanca, Javier Enríquez; Weinberg, Seth M; Moreno, Lina; Cornell, Robert A; Murray, Jeffrey C; Marazita, Mary L

    2016-04-07

    Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP have been characterized. To identify such risk factors, we performed a genome-wide association study of this disorder. We discovered a genome-wide significant association with a missense variant in GRHL3 (p.Thr454Met [c.1361C>T]; rs41268753; p = 4.08 × 10(-9)) and replicated the result in an independent sample of case and control subjects. In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1-16.8; OR = 2.16, 95% CI 1.43-3.27, respectively). In luciferase transactivation assays, p.Thr454Met had about one-third of the activity of wild-type GRHL3, and in zebrafish embryos, perturbed periderm development. We conclude that this mutation is an etiologic variant for nonsyndromic CP and is one of few functional variants identified to date for nonsyndromic orofacial clefting. This finding advances our understanding of the genetic basis of craniofacial development and might ultimately lead to improvements in recurrence risk prediction, treatment, and prognosis.

  8. A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3

    PubMed Central

    Leslie, Elizabeth J.; Liu, Huan; Carlson, Jenna C.; Shaffer, John R.; Feingold, Eleanor; Wehby, George; Laurie, Cecelia A.; Jain, Deepti; Laurie, Cathy C.; Doheny, Kimberly F.; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R.; Neiswanger, Katherine; Standley, Jennifer; Czeizel, Andrew E.; Deleyiannis, Frederic; Christensen, Kaare; Munger, Ronald G.; Lie, Rolv T.; Wilcox, Allen; Romitti, Paul A.; Field, L. Leigh; Padilla, Carmencita D.; Cutiongco-de la Paz, Eva Maria C.; Lidral, Andrew C.; Valencia-Ramirez, Luz Consuelo; Lopez-Palacio, Ana Maria; Valencia, Dora Rivera; Arcos-Burgos, Mauricio; Castilla, Eduardo E.; Mereb, Juan C.; Poletta, Fernando A.; Orioli, Iêda M.; Carvalho, Flavia M.; Hecht, Jacqueline T.; Blanton, Susan H.; Buxó, Carmen J.; Butali, Azeez; Mossey, Peter A.; Adeyemo, Wasiu L.; James, Olutayo; Braimah, Ramat O.; Aregbesola, Babatunde S.; Eshete, Mekonen A.; Deribew, Milliard; Koruyucu, Mine; Seymen, Figen; Ma, Lian; de Salamanca, Javier Enríquez; Weinberg, Seth M.; Moreno, Lina; Cornell, Robert A.; Murray, Jeffrey C.; Marazita, Mary L.

    2016-01-01

    Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP have been characterized. To identify such risk factors, we performed a genome-wide association study of this disorder. We discovered a genome-wide significant association with a missense variant in GRHL3 (p.Thr454Met [c.1361C>T]; rs41268753; p = 4.08 × 10−9) and replicated the result in an independent sample of case and control subjects. In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1–16.8; OR = 2.16, 95% CI 1.43–3.27, respectively). In luciferase transactivation assays, p.Thr454Met had about one-third of the activity of wild-type GRHL3, and in zebrafish embryos, perturbed periderm development. We conclude that this mutation is an etiologic variant for nonsyndromic CP and is one of few functional variants identified to date for nonsyndromic orofacial clefting. This finding advances our understanding of the genetic basis of craniofacial development and might ultimately lead to improvements in recurrence risk prediction, treatment, and prognosis. PMID:27018472

  9. Toward a reconsideration of inclusion and exclusion criteria in cleft lip and palate: implications for psychological research.

    PubMed

    Feragen, Kristin Billaud; Stock, Nicola Marie; Rumsey, Nichola

    2014-09-01

    Background : This article investigates the prevalence of conditions that affect cognitive and/or psychosocial functioning in 10-year-old children born with a cleft lip and/or palate (CL/P) and explores how the presence of such additional difficulties may affect the reporting of outcomes in psychological research. Design : Cross-sectional data derived from routine psychological assessments. Setting : Centralized treatment, Norway. Participants : Data on cleft type and additional conditions were collected for 754 children with CL/P from 11 consecutive birth cohorts. Data on psychological adjustment were collected for three consecutive birth cohorts (n = 169). Main Outcome Measures : The Strengths and Difficulties Questionnaire (SDQ), completed by children and parents. Results : A total of 240 children (32%) in the sample had an additional condition, such as developmental delay, attention deficit/hyperactivity disorder, or a specific language impairment or dyslexia. Analysis of SDQ scores using conventional exclusion criteria (approach 1) was compared with a second method (approach 2), which included all children and categorized them according to the presence or absence of additional conditions. Significant variation in profiles of psychosocial adjustment was found depending on the approach to exclusion. Conclusions : The presence of additional conditions in a sample may affect results and subsequently the conclusions drawn in relation to the psychosocial adjustment of children born with CL/P. The present study emphasizes the importance of careful assessments and reporting of all associated conditions, in order to improve the understanding of the impact of a cleft and the consequences of associated conditions in this population.

  10. Dental surgery under general anesthesia for preschool patients with orofacial clefts.

    PubMed

    Karp, Jeffrey M

    2009-01-01

    Preschool children with orofacial clefts are prone to develop early childhood caries (ECC). Management of ECC often necessitates the use of general anesthesia, yet little information is published about this treatment approach in cleft patients. The purpose of this article was to describe the hospital core of 12 patients with orofacial clefts (mean age = 44 months; range = 22-62 months) and ECC treated in 15 total dental surgeries under general anesthesia. The mean surgical time was 85 minutes (range = 35-134 minutes). Severe ECC was diagnosed in all cases, with 83 percent of patients having 10 or more carious teeth. Preformed metal crowns and extractions were performed on 30 percent and 15 percent of all primary teeth, respectively. This case series found the clinical presentation of ECC in patients with orofacial clefts to be comparable to the noncleft populotion. Treatment of ECC is feasible through dental surgery under general anesthesia with appropriate perioperotive planning.

  11. Does Hamulotomy during Palatoplasty Have Any Effect on Hearing Ability in Nonsyndromic Cleft Palate Patients? A Prospective, Single Blind, Comparative Study

    PubMed Central

    Jain, Anuj; Nimonkar, Pranali; Bhola, Nitin; Borle, Rajiv; Sharma, Shishir; Oswal, Shrenik

    2016-01-01

    The primary goal of palatoplasty is to achieve a tension-free palatal closure ensuring no postoperative complications. Many surgeons fracture the pterygoid hamulus to minimize tension during palatoplasty. However, this maneuver gained criticism by some authors on the grounds that it may lead to Eustachian Tube dysfunction. Our study intended to figure out the relationship of hamulus fracture with the postoperative state of middle ear in cleft palate children. Fifty consecutive cleft palate patients with an age range of 10 months to 5 years were recruited. All the patients were assigned to either hamulotomy or nonhamulotomy group preoperatively. The patients were subjected to otoscopic examination and auditory function evaluation by brainstem evoked response audiometry (BERA) preoperatively and 1 month and 6 months postoperatively. Otoscopy revealed that the difference in the improvement of middle ear status in both groups was statistically insignificant. Moreover, there was no significant difference in the BERA outcomes of the fracture and nonfracture populations. Complication rate in both groups was also statistically not significant. It can be concluded that hamulotomy does not have any effect on the hearing ability in cleft palate population, so hamulotomy can be performed for tension-free closure during palatoplasty. PMID:27006862

  12. Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs.

    PubMed

    Prescott, N J; Lees, M M; Winter, R M; Malcolm, S

    2000-03-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a complex disorder of multigenic origin involving between two and ten loci. Linkage and association studies of CL/P have implicated a number of candidate genes and regions but have often proved difficult to replicate. Here, we report the findings from a two-stage genome-wide scan of 92 affected sib-pairs to identify susceptibility loci to CL/P. An initial set of 400 microsatellite markers was used, with an average spacing of 10 cM throughout the genome. Eleven regions on eight chromosomes were found to have a P-value smaller than 0.05. These eight chromosomes were then further mapped with a second set of markers to increase the average map density to 5 cM. In seven out of eleven areas densely mapped, significance was markedly increased by decreasing the marker interval. Excessive allele sharing was found at 1p (NPL=2.35, P=0.009, MLS=1.51), 2p (NPL=1.77, P= 0.04, MLS=0.66), 6p (NPL=2.35, P=0.009, MLS=1.34), 8q (NPL=2.15, P=0.015, MLS= 1.51) 11 cen (NPL=2.70, P=0.003, MLS=2.10), 12q (NPL=2.08, P=0.02, MLS= 1.5), 16p (NPL=2.1, P=0.018, MLS=0.97) and Xcen-q (NPL=2.40, P=0.008, MLS=2.68). Although none reached the level required for significant susceptibility loci, two of these areas have previously been implicated in CL/P, viz. 2p13, an area harbouring the TGFA gene, and 6p23-24. We also demonstrate highly suggestive linkage to a susceptibility locus for nonsyndromic clefting on the X chromosome. Further studies are currently underway to replicate these findings in a larger cohort of affected sib-pairs.

  13. Refinement of velopharyngoplasty in patients with cleft palate by covering the pharyngeal flap with nasal mucosa from the velum.

    PubMed

    Stoll, C; Hochmuth, M; Meister, P; Soost, F

    2000-06-01

    The velopharyngoplasty performed using the popular Sanvenero-Rosselli method improves the speech quality of patients with cleft palate suffering from persistent velopharyngeal insufficiency despite successful closure of the hard and soft palates. However, often a relatively narrow pharyngeal bridge results due to healing not only by granulation and scar contraction, but also due to the insertion of the inferior tip of the flap into a narrow bed. Elevation of two velar flaps with nasal mucosa to cover the exposed muscular undersurface of the pharyngeal flap produces a broader recipient bed into which the pharyngeal flap can be spread. The speech quality of 27 patients treated with this modified method (group B) was compared with that of 27 patients without this modification (group A). Eight weeks after velopharyngoplasty (followed by uneventful wound healing) the speech quality of group B was significantly better than that of group A (p<0.03 MannWhitney U-test). This difference was even more evident when comparing the preoperative with the postoperative speech quality (p<0.005). Thus, covering the exposed muscular layer of the pharyngeal flap with nasal mucosa of the velum is an important modification of velopharyngoplasty for the improvement of speech quality.

  14. Description of the methodology used in an ongoing pediatric care interventional study of children born with cleft lip and palate in South America [NCT00097149

    PubMed Central

    Wehby, George L; Castilla, Eduardo E; Goco, Norman; Rittler, Monica; Cosentino, Viviana; Javois, Lorette; McCarthy, Ann Marie; Bobashev, Georgiy; Litavecz, Stephen; Mariona, Alejandra; Dutra, Graca; López-Camelo, Jorge S; Orioli, Iêda M; Murray, Jeffrey C

    2006-01-01

    Background The contribution of birth defects, including cleft lip and palate, to neonatal and infant mortality and morbidity is substantial. As other mortality and morbidity causes including infections, hygiene, prematurity, and nutrition are eradicated in less developed countries, the burden of birth defects will increase proportionally. Methods/Design We are using cleft lip and palate as a sentinel birth defect to evaluate its burden on neonatal and infant health and to assess the effectiveness of systematic pediatric care during the first month and first two years of life in decreasing this burden. The neonatal intervention, consisting of weekly pediatric evaluation and referral to appropriate care, is delivered to about 696 infants born with cleft lip and/or palate in 47 hospitals in South America. Neonatal mortality in this group will be compared to that in a retrospective control group of about 464 infants born with cleft lip and/or palate in the same hospitals. The subgroup of infants with isolated clefts of both the lip and palate (about 264) is also randomized into two groups, intervened and non-intervened, and further followed up over 2 years. Intervened cases are evaluated by pediatricians every three months and referred for appropriate care. The intervened and non-intervened cases will be compared over study outcomes to evaluate the intervention effectiveness. Non-intervened cases are matched and compared to healthy controls to assess the burden of cleft lip and palate. Outcomes include child's neurological and physical development and family social and economic conditions. Discussion Large-scale clinical trials to improve infant health in developing countries are commonly suggested, making it important to share the methods used in ongoing studies with other investigators implementing similar research. We describe here the content of our ongoing pediatric care study in South America. We hope that this may help researchers targeting this area to plan

  15. Lessons learned from two consecutive cleft lip and palate missions and the impact of patient education.

    PubMed

    Schönmeyr, Björn; Restrepo, Carolina; Wendby, Lisa; Gillenwater, Justin; Campbell, Alex

    2014-09-01

    Two consecutive cleft missions were conducted in Guwahati, northeastern India in December 2010 and January 2011. In the later mission, a standardized patient education program for postoperative care was introduced. The objective of this study was to retrospectively evaluate the impact of the patient education program on cleft lip complications in terms of wound infection and dehiscence. Two hundred ninety-eight cleft lip repairs were performed in the first mission and 220 (74%) returned for early follow-up. In the second mission, 356 patients were operated on and 252 (71%) returned for follow-up. From the first mission, 8 patients (3.7%) were diagnosed with lip wound infection and 21 patients (9.6%) with lip dehiscence. After the second mission, only 1 patient (0.4%) returned with a wound infection and 16 (6.4%) were diagnosed with dehiscence.Using binary logistic regression including age, cleft type, postoperative antibiotics, surgeon, and patient education program as covariates, the patient education program stood out as the only variable with a statistically significant impact on the incidence of postoperative wound infections. Even though the incidence of lip dehiscence was reduced by one third when the patient education program was utilized, our regression model singled out the surgeons as the only factor significantly related to this type of complication. Moreover, no benefits of postoperative antibiotic prophylaxis were found. Further analysis of the data also implied that the use of tissue adhesive as a compliment to sutures does not reduce the risk of dehiscence.

  16. A Genome-Wide Linkage Scan for Cleft Lip and Cleft Palate Identifies a Novel Locus on 8p11-23

    PubMed Central

    Riley, B.M.; Schultz, R.E.; Cooper, M.E.; Goldstein-McHenry, T.; Daack-Hirsch, S.; Lee, K.T.; Dragan, E.; Vieira, A.R.; Lidral, A.C.; Marazita, M.L.; Murray, J.C.

    2008-01-01

    Isolated or nonsyndromic cleft lip and palate (NS CLP) is a complex disorder resulting from multiple genetic and environmental factors. NS CLP has a birth prevalence of 1 per 500 in the Philippines where large families provide an opportunity for gene localization. Genotyping of 392 microsatellite repeat markers at 10 cM intervals over the genome was performed by the Center for Inherited Disease Research (CIDR) on 220 Filipino families with 567 affected and 1,109 unaffected family members genotyped. Among the most statistically significant results from analysis of the genome-wide scan data was a 20 cM region at 8p11-23 in which markers had LODs ≥1.0. This region on 8p11-23 has not been found in any previous genome wide scan nor does it contain any of the candidate genes widely studied in CLP. Fine mapping in 8p11-23 was done in the 220 families plus an additional 51 families, using SNP markers from 10 known genes (FGFR1, NRG1, FZD3, SLC8A1, PPP3CC, EPHX2, BNIP3L, EGR3, PPP2R2A, and NAT1) within the 20 cM region of 8p11-23. Linkage and association analyses of these SNPs yield suggestive results for markers in FGFR1 (recessive multipoint HLOD 1.07) and BAG4 (recessive multipoint HLOD 1.31). PMID:17366557

  17. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) - Part 4: Oral Rehabilitation

    PubMed Central

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

    2013-01-01

    Treatment of patients with cleft lip and palate is completed with fixed prostheses, removable, total, implants and aims to restore aesthetics, phonetics and function and should be guided by the basic principles of oral rehabilitation, such as physiology, stability, aesthetics, hygiene and the expectations of the patient. In order to obtain longevity of a prosthetic rehabilitation, the periodontal and dental tissue as well as the biomechanics of the prosthesis are to be respected. The purpose of this article is to describe the types of prosthetics treatment, which are performed at HRAC/USP for the rehabilitation of cleft area in adult patients. PMID:23857655

  18. Relational development in children with cleft lip and palate: influence of the waiting period prior to the first surgical intervention and parental psychological perceptions of the abnormality

    PubMed Central

    2012-01-01

    Background The birth of a child with a cleft lip, whether or not in association with a cleft palate, is a traumatic event for parents. This prospective, multidisciplinary and multi-centre study aims to explore the perceptions and feelings of parents in the year following the birth of their child, and to analyse parent–child relationships. Four inclusion centres have been selected, differing as to the date of the first surgical intervention, between birth and six months. The aim is to compare results, also distinguishing the subgroups of parents who were given the diagnosis in utero and those who were not. Methods/Design The main hypothesis is that the longer the time-lapse before the first surgical intervention, the more likely are the psychological perceptions of the parents to affect the harmonious development of their child. Parents and children are seen twice, when the child is 4 months (T0) and when the child is one year old (T1). At these two times, the psychological state of the child and his/her relational abilities are assessed by a specially trained professional, and self-administered questionnaires measuring factors liable to affect child–parent relationships are issued to the parents. The Alarme Détresse BéBé score for the child and the Parenting Stress Index score for the parents, measured when the child reaches one year, will be used as the main criteria to compare children with early surgery to children with late surgery, and those where the diagnosis was obtained prior to birth with those receiving it at birth. Discussion The mental and psychological dimensions relating to the abnormality and its correction will be analysed for the parents (the importance of prenatal diagnosis, relational development with the child, self-image, quality of life) and also, for the first time, for the child (distress, withdrawal). In an ethical perspective, the different time lapses until surgery in the different protocols and their effects will be analysed, so

  19. Relationship between chin deviation and the position and morphology of the mandible in individuals with a unilateral cleft lip and palate

    PubMed Central

    Kim, Kyung-Seon; Park, Soo-Byung; Kim, Seong-Sik; Kim, Yong-Il

    2013-01-01

    Objective In this study, we aimed to examine the relationship between chin deviation and the positional and morphological features of the mandible and to determine the factors that contributed to chin deviation in individuals with a unilateral cleft lip and palate (UCLP). Methods Cone-beam computed tomography (CBCT) images of 28 adults with UCLP were analyzed in this study. Segmented three-dimensional temporomandibular fossa and mandible images were reconstructed, and angular, linear, and volumetric parameters were measured. Results For all 28 individuals, the chin was found to deviate to the cleft side by 1.59 mm. Moreover, among these 28 individuals, only 7 showed distinct (more than 4 mm) chin deviation, which was toward the cleft side. Compared to the non-cleft side, the mandibular body length, frontal ramal inclination, and vertical position of the condyle were lower and inclination of the temporomandibular fossa was steeper on the cleft side. Furthermore, the differences in inclination of the temporomandibular fossa, mandibular body length, ramus length, and condylar volume ratio (non-deviated/deviated) were positively correlated with chin deviation. Conclusions UCLP individuals show mild chin deviation to the cleft side. Statistical differences were noted in the parameters that represented positional and morphological asymmetries of the mandible and temporomandibular fossa; however, these differences were too small to indicate clinical significance. PMID:24015386

  20. Effect of Relaxing Incisions on the Maxillary Growth after Primary Unilateral Cleft Palate Repair in Mild and Moderate Cases: A Randomized Clinical Trial

    PubMed Central

    Cotrina-Rabanal, Omar; Figallo-Hudtwalcker, Olga; Gonzalez-Vereau, Alicia

    2017-01-01

    Background: The purpose of this study was to evaluate the association between the use of relaxing incisions and maxillary growth disturbance after primary palatoplasty in patients with unilateral cleft lip and palate. Methods: This is a prospective, randomized, double-blind controlled trial study with ethical committee approval between 2 groups of patients with unilateral cleft lip and palate who were operated on using the two-flap and one-flap techniques from 2008 to 2011. Two groups of patients with unilateral cleft lip and palate were operated on using the mentioned techniques by the Outreach Surgical Center Program Lima since 2008. Data collection was accomplished by evaluation of maxillary arch dimensions and dental arch relationships (scored using the 5-year-olds’ index). Results: The mean score for the 5-year-olds’ index was 2.57 for two-flap technique and 2.80 for one-flap technique without statistical significant differences (P = 0.71). Our comparative study did not find statistically significant differences in maxillary arch dimensions between the studied techniques for unilateral cleft palate repair. Good levels of agreement were observed according to the κ statistics. Conclusions: The results arising from this clinical trial do not provide statistical evidence that one technique let us obtain better maxillary development than the other at 5 years. The use of relaxing incisions was not associated with maxillary growth impairment. A technique with limited relaxing incisions does not has better maxillary growth. Additional longer term study is necessary to confirm this preliminary report. PMID:28203502

  1. [The risk factors in assessing the overall and local status of children with congenital cleft upper lip and palate before cheiloplasty].

    PubMed

    Khar'kov, L V; Iakovenko, L N

    1997-01-01

    Assessment of the status of more than 2000 children with cleft lip and palate before cheiloplasty brought the authors to a conclusion that obturators should be used as early as possible in perforating defects in order to allow breast feeding and prevent the progress of the deformation; iron-deficiency anemias, thymomegaly, and virus carrier state are to be timely detected and corrected as well as the concomitant developmental defects in order to prevent the postoperative complications.

  2. Association between IRF6 and 8q24 polymorphisms and nonsyndromic cleft lip with or without cleft palate: Systematic review and meta‐analysis

    PubMed Central

    Wattanawong, Kachin; McEvoy, Mark; Attia, John; Thakkinstian, Ammarin

    2016-01-01

    Background We conducted a systematic review and meta‐analysis of interferon regulatory factor 6 and 8q24 polymorphisms with nonsyndromic cleft lip with/without cleft palate (NSCL/P). Methods Data extraction was independently performed by two reviewers. Genotypic effects of four polymorphisms from 31 studies were pooled separately by ethnicity using a mixed‐effect logit model with accounting for heterogeneity. Results For rs2235371, AA and GA carried, respectively, 51% (95% confidence interval [CI], 37%–61%) and 42% (95% CI, 32%–50%) lower risks of NSCL/P than GG genotypes in Asians, but these genotypes were not significant in Caucasians. For rs2013162, only AA was significant, that is, carried 0.65 (95% CI, 0.52–0.82) times lower odds than CC in Caucasians but not for Asians. For rs642961, AA and GA genotypes, respectively, carried 2.47 (95% CI, 1.41–4.35) and 1.40 (95% CI, 1.12–1.75) times higher odds in Asian, and 2.03 (95% CI, 1.52–2.71) and 1.58 (95% CI, 1.37–1.82) times higher odds in Caucasians compare with GG genotypes. For rs987525, AA and CA genotypes carried 2.27 (95% CI, 1.43–3.60) and 1.34 (95% CI, 1.02–1.77) times higher odds in Asian, and 5.25 (95% CI, 3.98–6.91) and 2.13 (95% CI–1.82, 2.49) times higher odds in Caucasians, and 1.42 (95% CI, 1.10–1.82) and 1.28 (95% CI, 1.09–1.50) times higher odds in mixed ethnicities compared with CC genotypes. These variant effects remained significant based on applying Bonferroni corrected‐thresholds, except in the mixed ethnicity. Conclusion We show robust variant effects in NSCL/P. Considering them with other genes and risk factors might be useful to improve prediction of NSCL/P occurrence. Birth Defects Research (Part A) 106:773–788, 2016. © 2016 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc. PMID:27511269

  3. [The history of pediatric plastic surgery].

    PubMed

    Glicenstein, J

    2016-10-01

    The history of pediatric plastic surgery is linked to that of paediatrics. Until the early 19th century, there was no children's hospital. Only some operations were performed before the discovery of anesthesia, aseptic and antisepsis: cleft lip repair, amputation for polydactyly. Many operations were described in the 19th century for cleft lip and palate repair, hypospadias, syndactylies. The first operation for protruding ears was performed in 1881. Pediatric plastic surgery is diversified in the 2nd half of the 20th century: cleft lip and palate, burns, craniofacial surgery, hand surgery become separate parts of the speciality.

  4. Oral health related quality of life in cleft lip and palate patients rehabilitated with conventional prostheses or dental implants

    PubMed Central

    Papi, Piero; Giardino, Rita; Sassano, Pierpaolo; Amodeo, Giulia; Pompa, Giorgio; Cascone, Piero

    2015-01-01

    Objectives: Cleft lip and/or palate (CLP) is the most common congenital craniofacial abnormality, with a prevalence of 9.92 per 10,000 live births. In treating patients with CLP, oral rehabilitation is definitely a very important phase of the treatment in order to improve the patient's oral health related quality of life (OH-QoL). The aim of this retrospective study is to assess the OH-QoL in patients rehabilitated with different prosthetic options, thus comparing the conventional treatments, which include removable partial dentures and fixed partial dentures, with the implant-supported prostheses. Materials and Methods: Sixty-three patients were enrolled in this retrospective survey [44 females (69.84%) and 19 males (30.16%)] with a mean age of 34.93 ± 7.04 years (age range 21–53 years). They were all treated for CLP and rehabilitated with a conventional prosthesis or an implant-supported denture. Two different questionnaires were used in the present study to evaluate patients’ OH-QoL: The Italian version of the 49-item Oral Health Impact Profile (OHIP-49) and the Italian version of the Cleft Evaluation Profile (CEP). Statistical analysis was performed using analysis of variance (ANOVA) test, with a significant P < 0,05. Results: Data analysis revealed that patients rehabilitated with implant-supported dentures and fixed partial dentures showed a good level of satisfaction with their prostheses, scoring low values in the OHIP-49 and high values in the CEP, while subjects with removable partial dentures scored the highest values in the OHIP-49 and the lowest values in the CEP, which means an unsatisfactory feeling (P < 0.05). Conclusions: OH-QoL is a challenging demand for all prosthodontists. Our results show, clearly, that patients rehabilitated with implant-supported dentures are more satisfied compared to subjects with fixed partial dentures and removable partial dentures. PMID:26759802

  5. Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family

    PubMed Central

    Cvjetkovic, Nevena; Maili, Lorena; Weymouth, Katelyn S; Hashmi, S Shahrukh; Mulliken, John B; Topczewski, Jacek; Letra, Ariadne; Yuan, Qiuping; Blanton, Susan H; Swindell, Eric C; Hecht, Jacqueline T

    2015-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect affecting 135,000 newborns worldwide each year. While a multifactorial etiology has been suggested as the cause, despite decades of research, the genetic underpinnings of NSCLP remain largely unexplained. In our previous genome-wide linkage study of a large NSCLP African-American family, we identified a candidate locus at 8q21.3-24.12 (LOD = 2.98). This region contained four genes, Frizzled-6 (FZD6), Matrilin-2 (MATN2), Odd-skipped related 2 (OSR2) and Solute Carrier Family 25, Member 32 (SLC25A32). FZD6 was located under the maximum linkage peak. In this study, we sequenced the coding and noncoding regions of these genes in two affected family members, and identified a rare variant in intron 1 of FZD6 (rs138557689; c.-153 + 432A>C). The variant C allele segregated with NSCLP in this family, through affected and unaffected individuals, and was found in one other NSCLP African-American family. Functional assays showed that this allele creates an allele-specific protein-binding site and decreases promoter activity. We also observed that loss and gain of fzd6 in zebrafish contributes to craniofacial anomalies. FZD6 regulates the WNT signaling pathway, which is involved in craniofacial development, including midfacial formation and upper labial fusion. We hypothesize, therefore, that alteration in FZD6 expression contributes to NSCLP in this family by perturbing the WNT signaling pathway. PMID:26436110

  6. Success rate in implant-supported overdenture and implant-supported fixed denture in cleft lip and palate patients

    PubMed Central

    Zanolla, Jaine; Amado, Flávio Monteiro; da Silva, Willian Saranholi; Ayub, Bruno; de Almeida, Ana Lúcia Pompéia Fraga; Soares, Simone

    2016-01-01

    Background: The prosthetic treatment in cleft patients is challenging. Based on this, the aim of this study was to evaluate the longevity of prosthetic rehabilitation treatment with implant-supported overdenture (IOD) and implant-supported fixed denture (IFD) in cleft lip and palate patients in a period of 22 years. Materials and Methods: The medical records of 72 patients were analyzed (29 males and 43 females), and the survival rate of the implants was evaluated. Moreover, the prostheses’ time of use and the reason for the changing of these were also evaluated. Results: Four-hundred-seventeen implants were installed, and 370 implants survive today. The mean survival time of the implants was 7.6 years. Regarding the 97 prostheses made, the time of average use was 3.28 for the IFDs and 3.92 for IODs. The reasons for the replacements of the prostheses were mainly: fracture of the acrylic base (29.6%) and loss of vertical dimension of occlusion (VDO) (18.5%) in the IFDs. Moreover, in IODs, these were accounted for the loss of VDO due to teeth damage (17.2%) and implant loss (14.6%). Conclusions: The maintenance of the prostheses was challenging because the patients had difficulties returning for periodic control, but this fact did not result in the decrease of the success rate of the implants. The longevity of implants and prostheses was satisfactory; however, the prostheses showed repetitions mainly due to the wear of the teeth, with decreased vertical dimension and fracture of acrylic base. PMID:28299262

  7. [Nasal breath recovery and rhinoplasty in cleft lip and palate patient with unilateral choanal atresia].

    PubMed

    Chkadua, T Z; Ivanova, M D; Daminov, R O; Brusova, L A; Savvateeva, D M

    2016-01-01

    The paper presents the analysis of clinical case of endoscopic nasal breath restoration and elimination of the secondary cleft lip nasal deformity in 27 years old patient with unilateral choanal atresia and secondary nasal deformity after rhinocheiloplasty. Preoperative examination revealed the absence of nasal breathing on collateral side due to complete bone choanal atresia. Surgical treatment included endoscopic choanal repair, elimination of the secondary nasal deformity, septoplasty, conchotomy and lateroposition of the inferior conchae. The treatment resulted in nasal breath restoration and elimination of nasal deformity. Long-term follow-up at 1 and 12 months post-operatively proved stable positive aesthetic and functional results.

  8. Cleft Palate, Moderate Lung Developmental Retardation and Early Postnatal Lethality in Mice Deficient in the Kir7.1 Inwardly Rectifying K+ Channel.

    PubMed

    Villanueva, Sandra; Burgos, Johanna; López-Cayuqueo, Karen I; Lai, Ka-Man Venus; Valenzuela, David M; Cid, L Pablo; Sepúlveda, Francisco V

    2015-01-01

    Kir7.1 is an inwardly rectifying K+ channel of the Kir superfamily encoded by the kcnj13 gene. Kir7.1 is present in epithelial tissues where it colocalizes with the Na+/K+-pump probably serving to recycle K+ taken up by the pump. Human mutations affecting Kir7.1 are associated with retinal degeneration diseases. We generated a mouse lacking Kir7.1 by ablation of the Kcnj13 gene. Homozygous mutant null mice die hours after birth and show cleft palate and moderate retardation in lung development. Kir7.1 is expressed in the epithelium covering the palatal processes at the time at which palate sealing takes place and our results suggest it might play an essential role in late palatogenesis. Our work also reveals a second unexpected role in the development and the physiology of the respiratory system, where Kir7.1 is expressed in epithelial cells all along the respiratory tree.

  9. Secondary alveolar bone grafting in cleft of the lip and palate patients

    PubMed Central

    Walia, Abhilashaa

    2011-01-01

    Aim: The aim was to restore the function and form of both arches with a proper occlusal relationship and eruption of tooth in the cleft area. Materials and Methods: Eleven patients were selected irrespective of sex and socio-economic status and whose age was within the mixed dentition period. Iliac crest is grafted in cleft area and subsequently evaluated for graft success using study models, and periapical and occlusal radiographs. Results: At the time of evaluation teeth were erupted in the area and good alveolar bone levels were present. Premaxilla becomes immobile with a good arch form and arch continuity. There are no major complications in terms of pain, infection, paraesthesia, hematoma formation at donor site without difficulty in walking. There is no complication in terms of pain, infection, exposure of graft, rejection of graft, and wound dehiscence at the recipient site. Discussion: It is evident that secondary alveolar grafting during the mixed dentition period is more beneficial for patients at the donor site as well as the recipient site. Conclusion: Long-term follow-up is required to achieve maximum advantage of secondary alveolar grafting; the age of the patient should be within the mixed dentition period, irrespective of sex, socio-economic status. It may be unilateral or bilateral. PMID:22090755

  10. Postnatal treatment factors affecting craniofacial morphology of unilateral cleft lip and palate (UCLP) patients in a Japanese population.

    PubMed

    Alam, M K; Iida, J; Sato, Y; Kajii, Takashi S

    2013-12-01

    We have evaluated the craniofacial morphology of Japanese patients with unilateral cleft lip and palate (UCLP) and assessed the various postnatal factors that affect it. Lateral cephalograms of 140 subjects (mean (SD) aged 7 (2) years) with UCLP were taken before orthodontic treatment. Surgeons from Hokkaido University Hospital had done the primary operations. The craniofacial morphology was assessed by angular and linear cephalometric measurements. Cheiloplasty, palatoplasty, and preoperative orthopaedic treatment were chosen as postnatal factors. To compare the assessments of the postnatal factors, we made angular and linear cephalometric measurements for each subject and converted them into Z scores in relation to the mean (SD) of the two variables. Subjects treated by the modified Millard cheiloplasty had larger sella-nasion-point A (SNA) and nasion-point A-pogonion (NA-POG) measurements than subjects treated by the modified Millard with a vomer flap cheiloplasty. Two-stage palatoplasty showed consistently better craniofacial morphology than the other palatoplasty. Subjects who had preoperative orthopaedic treatment with a Hotz plate had significantly larger upper incisor/sella-nasion (U1-SN) measurements than who had no preoperative orthopaedic treatment or an active plate. We conclude that in subjects treated by a modified Millard type of cheiloplasty, a two-stage palatoplasty, and a Hotz plate there were fewer adverse effects on craniofacial morphology.

  11. 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.

  12. Long-Term Treatment Outcome of Presurgical Nasoalveolar Molding in Patients With Unilateral Cleft Lip and Palate

    PubMed Central

    Clark, Stacey L.; Teichgraeber, John F.; Fleshman, Ruth G.; Shaw, Joi D.; Chavarria, Carmen; Kau, Chung-How; Gateno, Jaime; Xia, James J.

    2015-01-01

    Purpose The purpose of this study was to evaluate the long-term effectiveness of presurgical nasoalveolar molding (PNAM) in patients with unilateral cleft lip and palate (UCLP). Methods Twenty-five patients with UCLP treated by either PNAM or non-PNAM therapy between 1998 and 2003 were recruited in the study. During the clinical examination and data analysis, the evaluators were blinded to which patients received PNAM. The patients were reviewed clinically, and their facial morphology was captured with a three-dimensional scanner. Their dental arch configuration and occlusion were recorded by plaster dental models. After the patient evaluations and measurements were completed, the patient list was unblinded. There were 20 patients in the PNAM group and 5 patients in the non-PNAM group. Fisher exact tests and Wilcoxon rank sum tests were used to compare the outcomes. Results Clinically, the improvement in the PNAM group was most evident in nasal and lip anatomy. However, there were no statistically significant differences between the 2 groups on each of the measurements on three-dimensional facial images and dental models. Conclusions Our study suggests a trend toward a long-term clinical improvement in nasal and lip anatomy of UCLP patients treated with PNAM. However, these improved results were not confirmed by three-dimensional stereophotography. There was no statistically significant difference in the long-term three-dimensional anthropometric measurements and dental model analysis between the PNAM group and the non-PNAM group. PMID:21239929

  13. [The surgical treatment of mandibular prognathism after the elimination of congenital clefts of the upper lip and palate].

    PubMed

    Kozlov, V A; Filatov, A V

    1994-01-01

    In 4.47% of observation in patients after liquidation of the cleft lip and the palate the lower prognathia is diagnosed. From 77 patients being operated for lower prognathia such kind of patients were 7. The subsequence of the treatment measures is the following: correction of the upper jaw on the basis of compactostetomy and it's subsequent widening with orthodontic devices. In case of impossibility of sufficient widening of the dental arch the removable dental prosthesis is made for application on the upper jaw with doubling dental row accounting achievement of the desired bite. At the second stage the osteotomy of the upper jaw brunch and sagittal removement of the central section back are carried out up to achievement of the neutral bite. In dependence on jaw sagittal removement degree operative treatment may be performed by the intravial (I degree) or extravial method (II-III progemy degrees). Quite satisfactory remote results are presented. The paper is illustrated by 4 figures. The list of literature is given.

  14. Patients and professionals have different views on online patient information about cleft lip and palate (CL/P).

    PubMed

    van den Bosch, S; Koudstaal, M; Versnel, S; Maal, T; Xi, T; Nelen, W; Bergé, S; Faber, M

    2016-06-01

    Parents of children with a cleft lip and/or palate (CL/P) and patients with CL/P actively search for online information about CL/P. The quality of this information has not been sufficiently evaluated. The aim of this study was to define quality criteria for online information about CL/P and assess the quality of frequently accessed websites. Patients, parents, and professionals were equally involved in all stages of this study. A literature review was performed to obtain known quality criteria for online information. These criteria were prioritized by patients, parents, and professionals. The most important criteria were used to rate the quality of four websites on CL/P. Forty-two quality items were extracted from the literature. Patients, parents, and professionals agreed on the importance of 16 of these items. New groups of patients, parents, and professionals assessed four websites on CL/P. Although the groups were like-minded in their overall assessment of the quality of the websites, distinct differences emerged between the groups in relation to certain items. This study shows the importance of patient participation in healthcare research, as well as a feasible approach to do so. Involving patients in composing online health information will set different priorities, which is necessary in establishing high quality information.

  15. A 20 year audit of nose-tip symmetry in patients with unilateral cleft lip and palate.

    PubMed

    Timoney, N; Smith, G; Pigott, R W

    2001-06-01

    The purpose of this study was to audit the process and outcome in terms of nasal-tip symmetry of the first 20 patients with unilateral complete cleft lip and palate treated by the Pigott alar leapfrog primary nasal correction in the early 1970s and followed for 20 years. Symmetry was assessed using the Coghlan computer-based analysis of frontal and basal views to determine the stability of the correction. The Abyholm technique of alveolar bone grafting was performed in 12 of the 20 patients. Various other secondary procedures have been performed on the nose tip and septum to improve the airway or appearance. Photographs were taken within one year of ages 5, 10, 15 and 20 years, and the lower border of the nose, the alar domes and the nostrils were assessed. To assess the overall change from 5 years to 20 years, both views were available for 17 patients. No significant change was found in the lower border or nostril symmetry, but significant deterioration at the P< 0.01 level was found on the basal view. We assessed the 10, 15 and 20 year views of all 12 patients who had undergone alveolar bone grafting to determine early and late changes. No significant benefit was found from alveolar bone grafting or minor secondary procedures for appearance. Consequently, our criteria for undertaking minor adjustments to improve appearance have become more stringent. We consider that objective reporting of appearance should become essential in peer-reviewed journals.

  16. Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

    PubMed

    Lindgren, Amelia M; Hoyos, Tatiana; Talkowski, Michael E; Hanscom, Carrie; Blumenthal, Ian; Chiang, Colby; Ernst, Carl; Pereira, Shahrin; Ordulu, Zehra; Clericuzio, Carol; Drautz, Joanne M; Rosenfeld, Jill A; Shaffer, Lisa G; Velsher, Lea; Pynn, Tania; Vermeesch, Joris; Harris, David J; Gusella, James F; Liao, Eric C; Morton, Cynthia C

    2013-05-01

    We describe a female subject (DGAP100) with a 46,X,t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures, facial dysmorphia and cleft palate. Fluorescence in situ hybridization and whole-genome sequencing demonstrated that the X chromosome breakpoint disrupts KDM6A in the second intron. No genes were directly disrupted on chromosome 5. KDM6A is a histone 3 lysine 27 demethylase and a histone 3 lysine 4 methyltransferase. Expression of KDM6A is significantly reduced in DGAP100 lymphoblastoid cells compared to control samples. We identified nine additional cases with neurodevelopmental delay and various other features consistent with the DGAP100 phenotype with copy number variation encompassing KDM6A from microarray databases. We evaluated haploinsufficiency of kdm6a in a zebrafish model. kdm6a is expressed in the pharyngeal arches and ethmoid plate of the developing zebrafish, while a kdm6a morpholino knockdown exhibited craniofacial defects. We conclude KDM6A dosage regulation is associated with severe and diverse structural defects and developmental abnormalities.

  17. Anterior maxillary segmental distraction for correction of maxillary hypoplasia and dental crowding in cleft palate patients: a preliminary report.

    PubMed

    Wang, X-X; Wang, X; Li, Z-L; Yi, B; Liang, C; Jia, Y-L; Zou, B-S

    2009-12-01

    To evaluate the feasibility of anterior maxillary segmental distraction (AMSD) to correct maxillary hypoplasia and severe dental crowding in cleft lip and palate (CLP) patients, 7 patients (average age 16.4 years) with maxillary hypoplasia, shortened maxillary dental arch length and severe anterior dental crowding secondary to CLP were selected for this study. After anterior maxillary segmental osteotomy, 3 patients were treated using bilateral internal distraction devices, and 4 patients were treated using rigid external distraction devices. Photographs and radiographs were taken to review the improvement in facial profile and occlusion after distraction. An average 10.25 mm anterior maxillary advancement was obtained in all patients after 10-23 days of distraction and 9-16 weeks of consolidation. The sella-nasion-point A (SNA) angle increased from 69.5 degrees to 79.6 degrees. Midface convexity was greatly improved and velopharyngeal competence was preserved. The maxillary dental arch length was greatly increased by 10.1 mm (P<0.01). Dental crowding and malocclusion were corrected by orthodontic treatment. These results show that AMSD can effectively correct the hypoplastic maxilla and severe dental crowding associated with CLP by increasing the midface convexity and dental arch length while preserving velopharyngeal function, and dental crowding can be corrected without requiring tooth extraction.

  18. Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.

    PubMed

    Sasaki, Ryo; Saito, Kayoko; Watanabe, Yorikatsu; Takayama, Yoshinaga; Fujii, Katsunori; Agawa, Kaori; Miyashita, Toshiyuki; Ando, Tomohiro; Akizuki, Tanetaka

    2009-07-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by developmental abnormalities and a predisposition to cancers. Two unrelated patients, 21- and 16-year-old males, with cleft lip and palate and multiple jaw cysts, were diagnosed according to clinical criteria. To confirm a diagnosis of NBCCS, we undertook a molecular genetic analysis of the PTCH gene. Their PTCH genes were analyzed by direct sequencing of the PCR product from their DNA, and previously unreported mutations were identified. A heterozygous duplication at the nucleotide position between 3325 and 3328 of the PTCH gene (c.3325_3328dupGGCG) was detected in the 21-year-old patient. It caused a frameshift mutation, resulting in a premature termination of the PTCH protein. A point mutation (G to C) in intron 7 of the PTCH gene (c.1067+1G>C) was detected in the 16-year-old patient. This caused an aberrant splicing of PTCH. It is interesting to note that the non-canonical cryptic splice-donor site was activated, which did not conform to the GT-AG rule.

  19. Same noses, different nasalance scores: data from normal subjects and cleft palate speakers for three systems for nasalance analysis.

    PubMed

    Bressmann, Tim; Klaiman, Paula; Fischbach, Simone

    2006-01-01

    Nasalance scores from the Nasometer, the NasalView and the OroNasal System were compared. The data was collected from 50 normal participants and 19 hypernasal patients with cleft palate. The Nasometer had the lowest nasalance scores for the non-nasal Zoo Passage and that the OroNasal System had the lowest nasalance scores for the Nasal Sentences. The nasalance distance was largest for the Nasometer and smallest for the OroNasal System. When the calculation was based on nasalance magnitudes, results for sensitivity ranged from 57.9% to 81.8% and results for specificity ranged from 62.0% to 76.0%. When the calculation was based on nasalance distances, results for sensitivity ranged from 84.2% to 100.0% and results for specificity ranged from 82.0% to 100.0%. Results suggest that nasalance scores from the three systems are not interchangeable. Diagnostic efficacy improved when the calculations were based on nasalance distances rather than magnitudes, but further research is warranted to corroborate these findings.

  20. Prosthodontic Management in Conjunction with Speech Therapy in Cleft Lip and Palate: A Review and Case Report

    PubMed Central

    Dhakshaini, M R; Pushpavathi, M; Garhnayak, Mirna; Dhal, Angurbala

    2015-01-01

    Cleft lip and palate (CLP), a congenital disturbance needs a lot of attention with respect to its rehabilitation as a person suffering from this defect can lead a normal life given with the right type of treatment at the right time. However, if a patient cannot get surgical treatment at the appropriate time either due to availability or economic constraints, it is still possible to improve their social and psychological well-being with prosthodontic rehabilitation. The literature search was carried out through PubMed and Google scholar and manual search. The articles related to prosthodontic treatment in congestion with speech therapy and some articles on psychological assessment were considered The available prosthodontic treatment options for improvement of speech is discussed and highlighted the importance of prosthetic management of such patients along with a speech therapist. Also, a review of the available prosthetic treatment options is discussed in detail. Finally, a case report of a CLP patient treated prosthodontically with the assistance of speech pathologist is presented. PMID:26668496

  1. Prosthodontic Management in Conjunction with Speech Therapy in Cleft Lip and Palate: A Review and Case Report.

    PubMed

    Dhakshaini, M R; Pushpavathi, M; Garhnayak, Mirna; Dhal, Angurbala

    2015-01-01

    Cleft lip and palate (CLP), a congenital disturbance needs a lot of attention with respect to its rehabilitation as a person suffering from this defect can lead a normal life given with the right type of treatment at the right time. However, if a patient cannot get surgical treatment at the appropriate time either due to availability or economic constraints, it is still possible to improve their social and psychological well-being with prosthodontic rehabilitation. The literature search was carried out through PubMed and Google scholar and manual search. The articles related to prosthodontic treatment in congestion with speech therapy and some articles on psychological assessment were considered The available prosthodontic treatment options for improvement of speech is discussed and highlighted the importance of prosthetic management of such patients along with a speech therapist. Also, a review of the available prosthetic treatment options is discussed in detail. Finally, a case report of a CLP patient treated prosthodontically with the assistance of speech pathologist is presented.

  2. Nonsyndromic Mandibular Symphysis Cleft

    PubMed Central

    Guttikonda, Leela Krishna; Nadella, Koteswara Rao; Uppaluru, Vijayalakshmi; Kodali, Rama Mohan; Nallamothu, Ranganadh

    2014-01-01

    Median cleft of lower lip and mandible is a rare congenital anomaly described as cleft number 30 of Tessier's classification. In minor forms only lower lip cleft is seen. We report the case of a patient with median cleft of lower lip, severe ankyloglossia, cleft of mandibular symphysis, and residual cleft involving on right soft palate and associated with other facial clefts. These deformities were corrected in multiple stage procedure, consisting of release of the tongue from floor of the mouth and lower alveolus and fixation of the mandibular cleft done with right iliac bone graft using stainless steel miniplate. PMID:24711928

  3. Cephalometric comparison of early and late secondary bone grafting in the treatment of patients suffering from unilateral cleft lip and palate.

    PubMed

    Brudnicki, Andrzej; Sawicka, Ewa; Brudnicka, Renata; Fudalej, Piotr Stanisław

    2017-04-01

    The study was based on a retrospective cephalometric assessment of 10-year-olds in order to evaluate the influence of early secondary bone grafting on craniofacial development in patients suffering from non-syndromic complete unilateral cleft lip and palate. The study consisted of 79 patients in the early and 67 patients in the late secondary bone grafting group. The mean age at alveolar bone grafting was 2.5 years (SD 0.03) in the first group and 9.8 years (SD 2.3) in the second group. The primary cleft repair of these 146 patients was always performed in accordance with the one-stage method. Additionally, the non-cleft Control group was comprised of 56 children of the same ethnicity and age. The cephalometric analysis performed at age 10 revealed similar overall characteristics of observed growth disturbances in both cleft groups in comparison to the Control group, such as: inhibition of vertical and anterior maxillary development, the tendency of the mandible to rotate clockwise, and a prevalence of vertical over horizontal facial growth. The comparison between the cleft groups revealed a lack of growth differences in the vertical dimension and more pronounced anterior maxillary development inhibition in the early bone grafting group. This study will be followed by a similar evaluation after craniofacial development is complete by a significant number of these patients in order to ascertain our conclusions.

  4. Cleft Lip and Cleft Palate

    MedlinePlus

    ... an ENT News About Us Our Campaigns Foundation Governance Diversity Honorary Awards & Lectures Specialty Society Advisory Council ... Disclosure Form News About Us Our Campaigns Foundation Governance Diversity Honorary Awards & Lectures Specialty Society Advisory Council ...

  5. Review of secondary alveolar cleft repair

    PubMed Central

    Cho-Lee, Gui-Youn; García-Díez, Eloy-Miguel; Nunes, Richard-Agostinho; Martí-Pagès, Carles; Sieira-Gil, Ramón; Rivera-Baró, Alejandro

    2013-01-01

    Introduction: The alveolar cleft is a bony defect that is present in 75% of the patients with cleft lip and palate. Although secondary alveolar cleft repair is commonly accepted for these patients, nowadays, controversy still remains regarding the surgical technique, the timing of the surgery, the donor site, and whether the use of allogenic materials improve the outcomes. The purpose of the present review was to evaluate the protocol, the surgical technique and the outcomes in a large population of patients with alveolar clefts that underwent secondary alveolar cleft repair. Materials and Methods: A total of 109 procedures in 90 patients with alveolar cleft were identified retrospectively after institutional review board approval was obtained. The patients were treated at a single institution during a period of 10 years (2001-2011). Data were collected regarding demographics, type of cleft, success parameters of the procedure (oronasal fistulae closure, unification of the maxillary segments, eruption and support of anterior teeth, support to the base of the nose, normal ridge form for prosthetic rehabilitation), donor site morbidity, and complications. Pre- and postoperative radiological examination was performed by means of orthopantomogram and computed tomography (CT) scan. Results: The average patient age was 14.2 years (range 4–21.3 years). There were 4 right alveolar-lip clefts, 9 left alveolar-lip clefts, 3 bilateral alveolar-lip clefts, 18 right palate-lip clefts, 40 left palate-lip clefts and 16 bilateral palate-lip clefts. All the success parameters were favorable in 87 patients. Iliac crest bone grafts were employed in all cases. There were three bone graft losses. In three cases, allogenic materials used in a first surgery performed in other centers, underwent infection and lacked consolidation. They were removed and substituted by autogenous iliac crest bone graft. Conclusions: The use of autogenous iliac crest for secondary alveolar bone grafting

  6. Understanding Cleft and Craniofacial Team Care

    MedlinePlus

    ... Donor Spotlight Fundraising Ideas Vehicle Donation Volunteer Efforts Cleft Lip/Palate & Craniofacial Specialists in Your Area skip to submenu Parents & Individuals Cleft Lip/Palate & Craniofacial Specialists in Your Area Team Disclaimer States: ...

  7. Dental arch relationship in children with complete unilateral cleft lip and palate following one-stage and three-stage surgical protocols.

    PubMed

    Fudalej, Piotr; Katsaros, Christos; Bongaarts, Catharina; Dudkiewicz, Zofia; Kuijpers-Jagtman, Anne Marie

    2011-08-01

    The objective of this study is to compare dental arch relationship following one-stage and three-stage surgical protocols of unilateral cleft lip and palate. Dental casts of 61 children (mean age, 11.2 years; SD, 1.7), consecutively treated in one center with one-stage closure of the complete cleft at 9.2 months (SD, 2.0), were compared with a sample of 97 patients (mean age, 8.7 years; SD, 0.9), consecutively treated with a three-stage protocol including delayed hard palate closure in another center. The dental casts were assigned random numbers to blind their origin. Four raters graded dental arch relationship and palatal morphology using the EUROCRAN index. The strength of agreement of rating was assessed with kappa statistics. Independent t tests were run to compare the EUROCRAN scores between one-stage and three-stage samples, and Fisher's exact tests were performed to evaluate differences of distribution of the EUROCRAN grades. The intra- and inter-rater agreement was moderate to very good. Dental arch relationship in the one-stage sample was less favorable than in three-stage group (mean scores, 2.58 and 1.97 for one-stage and three-stage samples, respectively; p < 0.000). Palatal morphology in the one-stage sample was more favorable than in the three-stage group (mean scores, 1.79 and 1.96 for one-stage and three-stage samples, respectively; p = 0.047). The dental arch relationship following one-stage repair was less favorable than the outcome of three-stage repair. The palatal morphology following one-stage repair, however, was more favorable than the outcome of three-stage repair.

  8. The Relationship of Exposure to Anesthesia on Outcomes in Children With Isolated Oral Clefts.

    PubMed

    Conrad, Amy L; Goodwin, Jon W; Choi, James; Block, Robert I; Nopoulos, Peg

    2017-03-01

    This study evaluated the relationship between exposure to anesthesia and previously identified differences in cognitive functioning, growth, and volumetric brain measures among a sample of children, adolescents, and young adults with isolated oral clefts. Data from a cross-sectional study were combined with a retrospective chart review. Data were obtained for 87 participants with isolated cleft lip and/or palate (55% male), ranging from 7.5 to 27 years old (mean = 15.78, standard deviation = 4.58). Measures of interest included cognitive functioning, growth measures, and brain volumes. Number of surgeries and time under anesthesia were obtained through systematic medical record review. Potential sex and cleft type differences in exposure as well as relationships between anesthesia exposure and outcome measures were evaluated. Participants with isolated cleft lip and palate had more surgeries and were under anesthesia longer. For participants with isolated cleft lip only, more surgeries were correlated to lower verbal IQ and higher frontal lobe volume.

  9. Children with repaired bilateral cleft lip/palate: effect of age at premaxillary osteotomy on facial growth.

    PubMed

    Padwa, B L; Sonis, A; Bagheri, S; Mulliken, J B

    1999-10-01

    This study compared facial growth in three groups of patients with bilateral complete cleft lip/palate: those who had (1) no premaxillary osteotomy, (2) premaxillary osteotomy before age 8 years, and (3) premaxillary osteotomy after age 8 years. Of 24 children with bilateral complete cleft lip/palate, 7 had early premaxillary osteotomy (mean age, 6.1; range, 3.7 to 7.6 years), 10 had late osteotomy (mean age, 11.2; range, 8.3 to 20.7 years), and 7 did not require premaxillary repositioning and served as controls (mean age, 12.4; range, 6.4 to 17.8 years). Presurgical and postsurgical lateral cephalograms were digitized using the Dentofacial Planner software; most current lateral cephalograms comprised the control group. Forty-one bony and 25 soft-tissue landmarks were digitized, and 8 angles were measured: SNA, (sella-nasion-A point), SNPg (sella-nasion-pogonion), ANB (A point-nasion-B point), NAPg (nasion-A point-pogonion), ST convexity (glabella-subnasale-soft-tissue pogonion), Sn-G vertical (line perpendicular to the horizontal plane dropped from glabella and distance measured from subnasale to this vertical), Cm-Sn-Ls (columella-subnasale-abial superioris), and Sn-Gn-C (subnasale-soft-tissue gnathion-chin point). Statistical difference in mean preoperative and postoperative values were measured with analysis of variance. Tests of significance were adjusted for multiple comparisons using the Bonferroni correction. Mean age at follow-up for early, late, and control groups was 11.8, 14.0, and 12.4 years, respectively. Mean follow-up for early and late groups was 5.7 and 2.8 years. There was a significant preoperative difference among the three groups for mean SNA (p < 0.01), ANB (p < 0.01), and NAPg (p < 0.01). Bonferroni analyses revealed that the early group had significantly greater SNA, ANB, and NAPg angles than the late (p < 0.01) and control groups (p < 0.05). There was a significant postoperative difference among groups for ANB (p < 0.05); Bonferroni

  10. Feeding intervention in cleft lip and palate babies: a practical approach to feeding efficiency and weight gain.

    PubMed

    Ize-Iyamu, I N; Saheeb, B D

    2011-09-01

    Using a disposable syringe to feed 1-14-week-old babies with cleft lip and palate (CLP) was studied. 57 CLP babies were randomly divided into: syringe-fed (intervention) and cup-and-spoon-fed groups and compared with 55 normal breast- or bottle-fed babies. Differences in weight gained from birth to 6, 10 and 14 weeks were compared. Syringe-fed CLP babies fed breast milk had a significant difference in weight gain (0.7 and 0.8 kg) compared with cup-and-spoon-fed babies (0.4 kg), at 10 and 14 weeks, respectively. Normal breast-fed babies gained 0.6 and 0.7 kg. Cup-and-spoon-fed CLP babies fed artificial and breast milk gained 0.5 and 0.6 kg; syringe-fed CLP babies gained 0.6 and 1.2 kg. Normal babies gained 1.0 and 1.7 kg for the same age and food. Average feeding times were 10 ml/1.25 min for syringe-fed and 10 ml/2.08 min for cup-and-spoon-fed CLP babies at 6 weeks. 19 (100%) cup-and-spoon-fed babies exhibited spill and regurgitation at 6 weeks compared with 30 (79%) CLP syringe-fed babies (P<0.05). In both groups spill and regurgitation decreased with age. CLP babies fed with the modified method had a faster feeding time, less spill and regurgitation and gained the same weight as normal babies at 10 and 14 weeks.

  11. Conference Report: International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate (AEC) Syndrome

    PubMed Central

    Fete, Mary; vanBokhoven, Hans; Clements, Suzanne; McKeon, Frank; Roop, Dennis R.; Koster, Maranke I.; Missero, Caterina; Attardi, Laura D.; Lombillo, Vivian A.; Ratovitski, Edward; Julapalli, Meena; Ruths, Derek; Sybert, Virginia P.; Siegfried, Elaine C.; Bree, Alanna F.

    2009-01-01

    Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the p63 gene, known to be a regulatory gene with many downstream gene targets. TP63 is important in the differentiation and proliferation of the epidermis, as well as many other processes including limb and facial development. It is also known that mutations in p63 lead to skin erosions. These erosions, especially on the scalp, are defining features of AEC syndrome and cause significant morbidity and mortality in these patients. It was this fact that led to the 2003 AEC Skin Erosion Workshop. That conference laid the groundwork for the International Research Symposium for AEC Syndrome held at Texas Children's Hospital in 2006. The conference brought together the largest cohort of individuals with AEC syndrome, along with a multitude of physicians and scientists. The overarching goals were to define the clinical and pathologic findings for improved diagnostic criteria, to obtain tissue samples for further study and to define future research directions. The symposium was successful in accomplishing these aims as detailed in this conference report. Following our report, we also present eleven manuscripts within this special section that outline the collective clinical, pathologic and mutational data from eighteen individuals enrolled in the concurrent Baylor College of Medicine IRB-approved protocol: Characterization of AEC syndrome. These collaborative findings will hopefully provide a stepping stone to future translational projects of p63 and p63-related syndromes. PMID:19353643

  12. Mice devoid of γ-aminobutyrate type A receptor β3 subunit have epilepsy, cleft palate, and hypersensitive behavior

    PubMed Central

    Homanics, Gregg E.; DeLorey, Timothy M.; Firestone, Leonard L.; Quinlan, Joseph J.; Handforth, Adrian; Harrison, Neil L.; Krasowski, Matthew D.; Rick, Caroline E. M.; Korpi, Esa R.; Mäkelä, Riikka; Brilliant, Murray H.; Hagiwara, Nobuko; Ferguson, Carolyn; Snyder, Kimberly; Olsen, Richard W.

    1997-01-01

    γ-Aminobutyric acid type A receptors (GABAA-Rs) mediate the bulk of rapid inhibitory synaptic transmission in the central nervous system. The β3 subunit is an essential component of the GABAA-R in many brain regions, especially during development, and is implicated in several pathophysiologic processes. We examined mice harboring a β3 gene inactivated by gene targeting. GABAA-R density is approximately halved in brain of β3-deficient mice, and GABAA-R function is severely impaired. Most β3-deficient mice die as neonates; some neonatal mortality, but not all, is accompanied by cleft palate. β3-deficient mice that survive are runted until weaning but achieve normal body size by adulthood, although with reduced life span. These mice are fertile but mothers fail to nurture offspring. Brain morphology is grossly normal, but a number of behaviors are abnormal, consistent with the widespread location of the β3 subunit. The mice are very hyperactive and hyperresponsive to human contact and other sensory stimuli, and often run continuously in tight circles. When held by the tail, they hold all paws in like a ball, which is frequently a sign of neurological impairment. They have difficulty swimming, walking on grids, and fall off platforms and rotarods, although they do not have a jerky gait. β3-deficient mice display frequent myoclonus and occasional epileptic seizures, documented by electroencephalographic recording. Hyperactivity, lack of coordination, and seizures are consistent with reduced presynaptic inhibition in spinal cord and impaired inhibition in higher cortical centers and/or pleiotropic developmental defects. PMID:9108119

  13. Oral Pressure and Nasal Flow on /m/ and /p/ in 3- to 5-Year-Old Children Without Cleft Palate.

    PubMed

    Searl, Jeff; Knollhoff, Stephanie

    2013-01-01

    Objectives : (1) To compare oral pressure and nasal airflow in 3- to 5-year-olds versus older children and adults; (2) to describe stability of these measures in 3- to 5-year-olds at two recording times; and (3) to report participation rates of 3- to 5-year-olds for the aerodynamic protocol. Design : Prospective, nonrandomized, convenience samples in four age groups. Setting : University clinic. Participants : A total of 105 individuals without cleft palate and with normal speech for their age who were 3 to 5 (n  =  45), 7 to 9 (n  =  20), 11 to 13 (n  =  20), or 20 to 30 years old (n  =  20). All had normal nasal resonance and absence of nasally obstructive conditions on the testing day. Main Outcome Measures : Oral pressure and nasal airflow on /p/ and /m/ in syllable series and the word "hamper." Results : Oral pressure was significantly higher on /p/ for 3- to 5-year-olds versus the two oldest groups. Nasal airflow on /p/ occurred infrequently across groups. Oral pressure on /m/ was significantly higher for 3- to 5-year-olds versus adults. Nasal airflow on /m/ increased significantly with age. Oral pressure and nasal flow did not differ at two measurement times for the 3- to 5-year-olds. Of the 3- to 5-year-olds, 88% completed the protocol. Conclusions : Oral pressure decreased on /p/ and nasal airflow increased on /m/ from early childhood into adulthood. Nasal air escape on /p/ occurred rarely for speakers of any age; when it did occur, the magnitude was limited. Most preschool-aged children should be able to complete a velopharyngeal aerodynamic protocol, and measures are stable even for these young speakers.

  14. Investigating Oral Microbiome Profiles in Children with Cleft Lip and Palate for Prognosis of Alveolar Bone Grafting

    PubMed Central

    Liu, Luwei; Zhang, Qian; Lin, Jiuxiang; Ma, Lian; Zhou, Zhibo; He, Xuesong; Jia, Yilin; Chen, Feng

    2016-01-01

    In this study, we sought to investigate the oral microbiota structure of children with cleft lip and palate (CLP) and explore the pre-operative oral bacterial composition related to the prognosis of alveolar bone grafting. In total, 28 patients (19 boys, 9 girls) with CLP who were scheduled to undergo alveolar bone grafting for the first time were recruited. According to the clinical examination of operative sites at the third month after the operation, the individuals were divided into a non-inflammation group (n = 15) and an inflammation group (n = 13). In all, 56 unstimulated saliva samples were collected before and after the operation. The v3-v4 hypervariable regions of the 16S rRNA gene were sequenced using an Illumina MiSeq sequencing platform. Based on the beta diversity of the operational taxonomic units (OTUs) in the inflammation and non-inflammation samples, the microbial variation in the oral cavity differed significantly between the two groups before and after the operation (P < 0.05). Analysis of the relative abundances of pre-operative OTUs revealed 26 OTUs with a relative abundance higher than 0.01%, reflecting a significant difference of the relative abundance between groups (P < 0.05). According to a principal component analysis of the pre-operative samples, the inflammation-related OTUs included Tannerella sp., Porphyromonas sp., Gemella sp., Moraxella sp., Prevotella nigrescens, and Prevotella intermedia, most of which were enriched in the inflammation group and showed a significant positive correlation. A cross-validated random forest model based on the 26 different OTUs before the operation was able to fit the post-operative status of grafted sites and yielded a good classification result. The sensitivity and specificity of this classified model were 76.9% and 86.7%, respectively. These findings show that the oral microbiota profile before alveolar bone grafting may be related to the risk of post-operative inflammation at grafted sites. PMID

  15. Speech outcomes in 10-year-old children with complete unilateral cleft lip and palate after one-stage lip and palate repair in the first year of life.

    PubMed

    Hortis-Dzierzbicka, Maria; Radkowska, Elzbieta; Fudalej, Piotr S

    2012-02-01

    An evaluation of the results of one-stage repair of unilateral cleft lip and palate (UCLP) performed at the Institute of Mother and Child, Warsaw, Poland, has shown that the dentofacial outcomes are comparable with those of the best cleft centres. The aim of this study was to assess speech development after one-stage closure of UCLP. Twenty boys and eight girls at the mean age 9.6 years consecutively treated with one-stage closure of the cleft at the mean age of 8.8 (range, 6-13) months were included. The same surgeon performed palatal repair using a vomerplasty. The evaluated outcomes included (1) perceptual speech evaluations with assessment of hypernasality, audible nasal emissions (ANEs) and compensatory articulations, (2) evaluation of compensatory facial grimacing, (3) clinical intraoral evaluation and (4) videonasendoscopy when indicated. Our results demonstrated that 25 patients (89.3%) had normal nasal resonance. Severe hypernasality and compensatory articulation disorders caused by velopharyngeal insufficiency were assessed in one patient. In 13 patients (46.4%), oronasal fistulas were found. Two children (7%) with larger fistulas presented with mild hypernasality. In 11 cases (39.2%), fistula friction was heard at pronunciation of some anterior sounds. Ten children (35.7%) demonstrated compensatory facial grimacing, mostly inconsistent and mild, in the form of nasal valving. In conclusion, articulation development, velopharyngeal sphincter competence and incidence of compensatory articulations in our sample are satisfactory. However, only 54% of the present groups were rated as having entirely normal speech because of high incidences of anterior palatal fistulas, and mild but frequent fistula-related speech disturbances.

  16. Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.

    PubMed

    Fu, Xiazhou; Cheng, Yibin; Yuan, Jia; Huang, Chunhua; Cheng, Hanhua; Zhou, Rongjia

    2015-02-01

    The cleft palate only (CPO) is a common congenital defect with complex etiology in humans. The molecular etiology of the CPO remains unknown. Here, we report a loss-of-function mutation in X-linked TBX22 gene (T-box 22) in a six-generation family of the CPO with obvious phenotypes of both cleft palate and hyper-nasal speech. We identify a functional -73G>A mutation in the promoter of TBX22, which is located at the core-binding site of transcription factor ETS-1 (v-ets avian erythroblastosis virus E26 oncogene homolog 1). Phylogenetic analysis showed that the sequence around the -73G>A mutation site is specific in primates. The mutation was detected in all five affected male members cosegregating with the affected phenotype and heterozygote occurred only in some unaffected females of the family, suggesting an X-linked transmission of the mutation in the family. The -73G>A variant is a novel single nucleotide mutation. Cell co-transfections indicated that ETS-1 could activate the TBX22 promoter. Moreover, EMSA and ChIP assays demonstrated that the allele A disrupts the binding site of ETS-1, thus markedly decreases the activity of the TBX22 promoter, which is likely to lead to the birth defect of the CPO without ankyloglossia. These results suggest that a loss-of-function mutation in the X-linked TBX22 promoter may cause the cleft palate through disruption of TBX22-ETS-1 pathway.

  17. Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate

    PubMed Central

    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.

    2015-01-01

    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. PMID:25798845

  18. Siamese twins with craniofacial duplication and bilateral cleft lip/palate in a ceramic representation of the Chimú culture (Peru): a comparative analysis with a current case.

    PubMed

    Pachajoa, Harry; Hernandez-Amaris, Maria F; Porras-Hurtado, Gloria Liliana; Rodriguez, Carlos A

    2014-06-01

    Craniofacial duplication or diprosopus is a very rare malformation that is present in approximately 0.4% of conjoined twins. Here is presented a case of craniofacial duplication in association with bilateral cleft lip/palate in both heads found in a ceramic representation from the early Chimú culture from Peru. A comparative analysis is made with a current case of a 28-week-old fetus with similar characteristics. After reviewing the medical literature on conjoined twins, very few reports of facial cleft in both twins were found, with no reports at all of bilateral cleft lip/palate. This ceramic crock is considered one of the first representations suggestive of craniofacial duplication, and probably the first reporting it in association with facial cleft.

  19. Transverse effect of Haas and Hyrax appliances on the upper dental arch in patients with unilateral complete cleft lip and palate: A comparative study

    PubMed Central

    Façanha, Anna Júlia de Oliveira; Lara, Tulio Silva; Garib, Daniela Gamba; da Silva Filho, Omar Gabriel

    2014-01-01

    Objective The aim of the present study was to evaluate the transverse effect of rapid maxillary expansion in patients with unilateral complete cleft lip and palate while comparing the Haas and Hyrax appliances. Methods The sample consisted of 48 patients divided into two groups: Group I - 25 patients treated with modified Haas appliance (mean age: 10 years 8 months); and Group II - 23 patients treated with Hyrax appliance (mean age: 10 years 6 months). Casts were taken during pre-expansion and after removal of the appliance at the end of the retention period. The models were scanned with the aid of the 3 Shape R700 3D scanner. Initial and final transverse distances were measured at cusp tips and cervical-palatal points of maxillary teeth by using the Ortho AnalyzerTM 3D software. Results The mean expansion obtained between cusp tips and cervical-palatal points for inter-canine width was 4.80 mm and 4.35 mm with the Haas appliance and 5.91 mm and 5.91 mm with the Hyrax appliance. As for first premolars or first deciduous molars, the values obtained were 6.46 mm and 5.90 mm in the Haas group and 7.11 mm and 6.65 mm in the Hyrax group. With regard to first molars, values were 6.11 mm and 5.24 mm in the Haas group and 7.55 mm and 6.31 mm in the Hyrax group. Conclusion Rapid maxillary expansion significantly increased the transverse dimensions of the upper dental arch in patients with cleft palate, with no significant differences between the Hass and Hyrax expanders. PMID:24945513

  20. Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature.

    PubMed

    Ysunza, Antonio; Shaheen, Kenneth; Aughton, David J; Micale, Mark A; Merson, Richard; Rutkowski, Kris

    2013-09-01

    Jacobsen syndrome is an uncommon but well-known contiguous gene syndrome caused by partial deletion involving the long arm of chromosome 11. Most common features include: psychomotor impairment, facial dysmorphism, and thrombocytopenia. Cleft palate has been rarely reported. A case of Jacobsen syndrome confirmed by cytogenomic analysis is presented with review of the literature. Main clinical features were phonological disorder, submucous cleft palate (SMCP) and velopharyngeal insufficiency (VPI). VPI was corrected surgically according to findings of videonasopharyngoscopy and videofluoroscopy. It is concluded that clinicians should consider that VPI associated with SMCP may be the main manifestations of a chromosomal syndrome.

  1. Evaluation of temporomandibular fossa and mandibular condyle in adolescent patients affected by bilateral cleft lip and palate using cone beam computed tomography.

    PubMed

    Uçar, Faruk Izzet; Buyuk, Suleyman Kutalmış; Şekerci, Ahmet Ercan; Celikoglu, Mevlut

    2016-11-01

    The purposes of this study were to investigate the position of the mandibular condyle and temporomandibular fossa between the adolescent patients affected by bilateral cleft lip and palate (BCLP) and well-matched controls without any cleft by using cone-beam computed tomography (CBCT). The study sample consisted of 17 patients (7 females and 10 males; mean age, 14.27 ± 2.83 years) affected by BCLP and 17 patients (6 females and 11 males; mean age, 14.27 ± 2.12 years) as age-and sex-matched control group without any cleft. Using cone-beam computed tomography segmented three-dimensional temporomandibular fossa and mandibular condyle images were reconstructed and angular, linear, and volumetric measurements of the patients in both sides of the groups were examined using Paired and Student's t-tests. Comparison of the sides showed that both sides were found to be similar in BCLP and control groups, except the condylar angulation of the right side was found to be higher compared to that of the left side in both groups (p < 0.05). Comparison of the groups showed that the patients affected by BCLP and non-cleft patients had similar values for all parameters, except for the condylar angulation in the right side (BCLP group had less angulation compared to controls; p < 0.05). The condylar volume was found to be slightly less in the BCLP group in both sides compared to the controls (p > 0.05). The positions of the mandibular condyle and temporomandibular fossa were found to be similar in patients affected by BCLP and control group of without any cleft. SCANNING 38:720-726, 2016. © 2016 Wiley Periodicals, Inc.

  2. Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the beta 3 subunit of the type A gamma-aminobutyric acid receptor.

    PubMed

    Culiat, C T; Stubbs, L; Nicholls, R D; Montgomery, C S; Russell, L B; Johnson, D K; Rinchik, E M

    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 5 and beta 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 p83FBFo deletion 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 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.

  3. [Cleft lip and palate in the Chilean population: association with BamH1 polymorphism of the transforming growth factor alpha (TGFA) gene].

    PubMed

    Jara, L; Blanco, R; Chiffelle, I; Palomino, H; Curtis, D

    1993-04-01

    In recent studies we have demonstrated that the model that better explains the genetic etiology of non syndromic cleft lip/palate (CL/P) in the Chilean population is one that postulates the existence of a major dominant autosomic locus with low penetrance, without discarding the possible influence of polygenes. Similar conclusions have been communicated by others authors in different populations. Thus, investigations have been initiated to seek possible associations between candidate genes and restriction length polymorphisms (RFLP's), specifically between Transforming Growth Factor Alpha (TGFA) gene RFLP's and CL/P, in caucasian populations. Results thus far obtained have been inconclusive. Therefore, the aim of this work was to study this association in the Chilean population, that is ethnically different. The gene and phenotype frequencies of the TGFA gene BamH1 polymorphism in CL/P probands (n = 21) and controls (n = 16) were determined. No significant differences were detected in the frequencies of the A1 and A2 alleles of the TGFA gene between probands and controls. These results do not support an association between the cleft palate phenotype and TGFA RFLP.

  4. Objective Assessment of Hypernasality in Patients with Cleft Lip and Palate with the NasalView System: A Clinical Validation Study.

    PubMed

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

    2012-01-01

    Introduction. The objective of this investigation was to evaluate the reliability and validity of the NasalView system as a screening tool for hypernasality within the scope of a routine diagnostic procedure in cleft lip and palate patients. Material and Methods. In a collective of 95 patients with cleft and lip palate ranging from 4 to 25 years of age, hypernasality was exploited perceptually, patients were classified in four degrees, and nasalance was measured objectively with the NasalView system. Speech stimuli existed in one nasal and one nonnasal sentence; nasalance ratio and distance were calculated. Results. The test-retest error was within a range of 2%. Sensitivity ranged from 83.3% to 91.1% for the nonnasal sentence, from 70% to 78.4% for nasalance ratio and from 68.1% to 81.1% for nasalance distance. Specifity ranged from 87% to 93.1% for the nonnasal sentence, from 69.6% to 97.5% for nasalance ratio, and from 70.7% to 73.9% for nasalance distance. Conclusions. With a quick and gentle screening procedure, it is easily possible to identify hypernasal patients by an objective diagnostic tool of hypernasality, the NasalView system, with good reliability and validity.

  5. A cross-sectional survey of 5-year-old children with non-syndromic unilateral cleft lip and palate: the Cleft Care UK study. Part 1: background and methodology

    PubMed Central

    Persson, M; Sandy, J R; Waylen, A; Wills, A K; Al-Ghatam, R; Ireland, A J; Hall, A J; Hollingworth, W; Jones, T; Peters, T J; Preston, R; Sell, D; Smallridge, J; Worthington, H; Ness, A R

    2015-01-01

    Structured Abstract Objectives We describe the methodology for a major study investigating the impact of reconfigured cleft care in the United Kingdom (UK) 15 years after an initial survey, detailed in the Clinical Standards Advisory Group (CSAG) report in 1998, had informed government recommendations on centralization. Setting and Sample Population This is a UK multicentre cross-sectional study of 5-year-olds born with non-syndromic unilateral cleft lip and palate. Children born between 1 April 2005 and 31 March 2007 were seen in cleft centre audit clinics. Materials and Methods Consent was obtained for the collection of routine clinical measures (speech recordings, hearing, photographs, models, oral health, psychosocial factors) and anthropometric measures (height, weight, head circumference). The methodology for each clinical measure followed those of the earlier survey as closely as possible. Results We identified 359 eligible children and recruited 268 (74.7%) to the study. Eleven separate records for each child were collected at the audit clinics. In total, 2666 (90.4%) were collected from a potential 2948 records. The response rates for the self-reported questionnaires, completed at home, were 52.6% for the Health and Lifestyle Questionnaire and 52.2% for the Satisfaction with Service Questionnaire. Conclusions Response rates and measures were similar to those achieved in the previous survey. There are practical, administrative and methodological challenges in repeating cross-sectional surveys 15 years apart and producing comparable data. PMID:26567851

  6. Orthognathic Consequences of Sphincter Pharyngoplasty in Cleft Patients: A 2-Institutional Study

    PubMed Central

    Yoshikane, Frances; Lai, Li Han; Hui, Brian K.; Martins, Deborah B.; Farias-Eisner, Gina; Mandelbaum, Rachel S.; Hoang, Han; Bradley, James P.; Wilson, Libby

    2016-01-01

    Background: Understanding long-term sequelae of cleft treatment is paramount in the refinement of treatment algorithms to accomplish optimized immediate and long-term outcomes. In this study, we reviewed sphincter pharyngoplasties as a method of velopharyngeal insufficiency (VPI) treatment in relationship to orthognathic surgery. Methods: Cleft lip/palate and cleft palate patients, 15 years of age and older, were reviewed for demographics, VPI surgery, revisions, and subsequent orthognathic surgery at 2 institutions. Chi-square test, Student’s t test, and logistic regression analyses were performed. Results: In 214 patients reviewed (mean age, 19.5 years), 61.7% were male, 18.2% had isolated cleft palate, 61.2% had unilateral cleft lip and palate, and 20.6% had bilateral cleft lip and palate. A total of 33.6% were diagnosed with VPI and received a sphincter pharyngoplasty (mean age, 11.9 years). When subsequent orthognathic surgery was examined, sphincter pharyngoplasty was not associated with maxillary advancement (P = 0.59) but did correlate with an increase in mandibular surgery from 2.8% to 11.1% (P = 0.02). The indications for mandibular surgery in the pharyngoplasty population were related to congenital micrognathia. When cephalometric analyses were evaluated, sphincter pharyngoplasty resulted in a decreased sella-to-nasion-to-B point angle (mean, 79.0–76.3 degrees, P = 0.02) and a higher incidence of normal to class II maxillomandibular relationships as defined by A point-to-nasion-to-B point angles >0.5 (P = 0.02). Conclusions: Sphincter pharyngoplasty decreases anterior mandibular growth and the discrepancy between maxillomandibular skeletal relationships because of the frequent predisposition of cleft patients to maxillary hypoplasia. In patients with congenital mandibular micrognathia, a small increase in mandibular surgeries may occur. PMID:27200238

  7. 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.

  8. Presurgical orthopaedic nasoalveolar molding in cleft lip and palate infants: a comparative evaluation of cases done with and without nasal stents.

    PubMed

    Punga, Rohit; Sharma, S M

    2013-09-01

    Addressing the craniofacial anomaly of cleft lip and palate presurgically has been done since more than 50 years now, with a constant improvisation of the treatment protocols from time to time. The present study deals with a modification of the technique devised 16 years ago. The effect of nasal stents attached to a pre-surgical naso-alveolar molding (PNAM) appliance on the nasal morphology achieved prior to primary surgical correction of the cleft lip was to be evaluated. Twenty subjects, infants with cleft lip and palate, less than 2 months of age were selected for presurgical nasoalveolar molding treatment. Impressions were recorded, casts made and PNAM appliance fabricated. Ten infants were given the appliance without nasal stents and to the other ten appliances nasal stents were added. The patients were recalled every 2-3 weeks and a series of 9 measurements were recorded every visit along with adjustments made to the appliance for desirable effects on the lip, alveolus and nose. This was carried out till the patient was taken up for lip repair. The final measurements obtained at the end of the presurgical treatment were recorded. Mann-Whitney test, between study and control group showed that the increase in the columella length was statistically significant (p = 0.0001 and p = 0.033) in the study group as compared to the control group. Also the increase of the nasal tip projection (mean = 1.30 mm) in the study group was found to be statistically significant (p = 0.006) as compared to the control group. We concluded that nasal stents attached to the alveolar molding appliance, yield significant improvement of the nasal morphology and better nasal aesthetics presurgically.

  9. Cultural and religious components in Nigerian parents' perceptions of the aetiology of cleft lip and palate: implications for treatment and rehabilitation.

    PubMed

    Olasoji, H O; Ugboko, V I; Arotiba, G T

    2007-06-01

    The present study was conducted to find out the perceptions of mothers from two Nigerian ethnic groups who had children with cleft lip and palate (CLP) about the aetiology of the defect. Mothers of 16 children with CLP from the Yoruba ethnic group who attended the maxillofacial clinic of the Obafemi Awolowo University teaching hospital in southern Nigeria and 20 children with CLP from the Hausa/Fulani ethnic group who attended the maxillofacial clinic of the University of Maiduguri teaching hospital in northeastern Nigeria were interviewed over an 8-month period. We used standardised interviews including questions with ethnographic components to allow us to collect information about traditional beliefs about clefts. Interviews were recorded on tape for later analysis. Thirteen of the 16 parents from the Yoruba group attributed the aetiology of CLP to supernatural forces (evil spirits and ancestral spirits), while 16 of the 20 Hausa/Fulani parents attributed it to the "will of God". Twelve of 16 Yoruba parents had consulted traditional healers for treatment before coming to the hospital. Various plants and animal products were used to treat clefts and 10 of the Yoruba parents were referred to the hospital for further treatment by the traditional healers. Cultural and religious factors seem to have an important role in the explanations, labels and treatment that followed the birth of a child with CLP in this environment. There is a need for greater collaboration and sharing of information between modern medical practitioners and traditional healers.

  10. International multiphase mixed methods study protocol to develop a cross-cultural patient-reported outcome instrument for children and young adults with cleft lip and/or palate (CLEFT-Q)

    PubMed Central

    Wong Riff, Karen W Y; Tsangaris, Elena; Goodacre, Tim; Forrest, Christopher R; Pusic, Andrea L; Cano, Stefan J; Klassen, Anne F

    2017-01-01

    Introduction Patient-reported outcome (PRO) instruments should be developed according to rigorous guidelines in order to provide clinically meaningful, scientifically sound measurement. Understanding the methodology behind instrument development informs the selection of the most appropriate tool. This mixed methods protocol describes the development of an internationally applicable PRO instrument, the CLEFT-Q, for evaluating outcomes of treatment for cleft lip and/or palate (CL/P). Methods and analysis The study includes three main phases that occur iteratively and interactively. In phase I, we determine what concepts are important to patients regarding their outcome. A conceptual framework for the CLEFT-Q is formed through a systematic review and an extensive international qualitative study. The systematic review ascertains what concepts have previously been measured in patients with CL/P. The qualitative study employs interpretive description and involves in-depth interviews with patients in high-income and lower-middle income countries. Preliminary items are generated from the qualitative data. Preliminary scales are then created for each theme in the framework. Cognitive debriefing interviews and expert clinician input are used to refine the scales in an iterative process. In phase II, the preliminary scales are administered to a large international group of patients with CL/P. The modern psychometric method of Rasch Measurement Theory analysis is employed to define the measurement characteristics. The preliminary scales are shortened based on these results. In phase III, further tests assess reliability, validity and responsiveness of the instrument. Ethics and dissemination The study is approved by Research Ethics Boards for each participating site. Findings from this study will be published in open access peer-reviewed journals and presented at national and international conferences. Integrated knowledge translation is employed to engage stakeholders from

  11. Nasomaxillary complex in size, position and orientation in surgically treated and untreated individuals with cleft lip and palate: A cephalometric overview

    PubMed Central

    Khanna, Rohit; Tikku, Tripti; Wadhwa, Jitesh

    2012-01-01

    Background: This cross-sectional retrospective cephalometric study was designed to clarify whether the maxillary deficiency seen in surgically treated individuals with non-syndromic complete unilateral cleft lip and palate (UCLP) is due to inherent growth potential or iatrogenicity. Materials and Methods: 72 adult individuals were randomly selected in the age range of 12-20 years, and were divided into two groups. Group I had 47 untreated individuals. Group II consisted of 25 surgically treated individuals. Lateral and frontal cephalograms of the selected individuals were taken and analysed using Nemoceph software. Results: Group II showed a marked reduction in the cranial base angle, maxillary base length, anterior and posterior maxillary positions, palatal plane angle, maxillary width, maxillary height, occlusal plane height, nasal width and nasal height. Conclusion: Surgical intervention does interfere with growth in the facial region. This could be attributed to the scar tissue in lip and palate region, which has a restraining effect on growth in the facial region. These altered functional matrices play a significant role in determining the growth of facial structures. PMID:22754157

  12. Cleft Palate, Moderate Lung Developmental Retardation and Early Postnatal Lethality in Mice Deficient in the Kir7.1 Inwardly Rectifying K+ Channel

    PubMed Central

    López-Cayuqueo, Karen I.; Lai, Ka-Man Venus; Valenzuela, David M.; Cid, L. Pablo; Sepúlveda, Francisco V.

    2015-01-01

    Kir7.1 is an inwardly rectifying K+ channel of the Kir superfamily encoded by the kcnj13 gene. Kir7.1 is present in epithelial tissues where it colocalizes with the Na+/K+-pump probably serving to recycle K+ taken up by the pump. Human mutations affecting Kir7.1 are associated with retinal degeneration diseases. We generated a mouse lacking Kir7.1 by ablation of the Kcnj13 gene. Homozygous mutant null mice die hours after birth and show cleft palate and moderate retardation in lung development. Kir7.1 is expressed in the epithelium covering the palatal processes at the time at which palate sealing takes place and our results suggest it might play an essential role in late palatogenesis. Our work also reveals a second unexpected role in the development and the physiology of the respiratory system, where Kir7.1 is expressed in epithelial cells all along the respiratory tree. PMID:26402555

  13. Cleft Lip and Palate

    MedlinePlus

    ... THIS TOPIC What's Hearing Loss? Going to a Speech Therapist What Happens in the Operating Room? Going to the Hospital ... Us Partners Editorial Policy Privacy Policy & Terms of Use Visit the Nemours ...

  14. Cleft Lip and Palate

    MedlinePlus

    ... birth defects. Moms who drink four or more alcoholic drinks in a row during the first weeks ... 1 • 2 • 3 For Teens For Kids For Parents MORE ON THIS TOPIC Hearing Impairment Speech Problems ...

  15. Rigid-fixation palatal appliances.

    PubMed

    Staggers, J

    1996-09-01

    Palatal appliances can offer an alternative to the traditional treatment approach of cleft lip and palate. The goal of these appliances is to position the maxillary segments more ideally and then maintain their position while allowing growth to occur. Use of palatal appliances can minimize the iatrogenic growth restriction usually associated with cleft palate repair. This article presents the findings of clinical treatment at the Medical College of Georgia.

  16. Assessment of cleft lip and palate patients treated with presurgical orthopedic correction and either primary bone grafts, gingivoperiosteoplasty, or without alveolar grafting procedures.

    PubMed

    Grisius, Thomas M; Spolyar, John; Jackson, Ian T; Bello-Rojas, Gustavo; Dajani, Khaled

    2006-05-01

    The effects of alveolar grafting on the development of the craniofacial complex have been reported by numerous investigators. The reported results vary in the literature from significant to very little impediment of maxillary growth. The present work evaluates and compares facial form at age six years in complete unilateral cleft lip and palate patients treated with presurgical orthopedic correction and primary reconstruction with (1) primary bone grafts (n = 14), (2) gingivoperiosteoplasty (n = II), or (3) without alveolar grafting procedures at the time of lip repair (n = 13). The cohort groups were analyzed with a one-way analysis of variance (ANOV A). Statistical analysis revealed significant differences between the three groups for only one of the 12 parameters analyzed. The primary bone grafted group demonstrated less vertical descent-of the anterior maxilla compared to the gingivoperiosteoplasty and non-grafted groups (P = .0027).

  17. A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.

    PubMed

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R; Feingold, Eleanor; Wehby, George; Laurie, Cecelia A; Jain, Deepti; Laurie, Cathy C; Doheny, Kimberly F; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R; Neiswanger, Katherine; Lidral, Andrew C; Valencia-Ramirez, Luz Consuelo; Lopez-Palacio, Ana Maria; Valencia, Dora Rivera; Arcos-Burgos, Mauricio; Czeizel, Andrew E; Field, L Leigh; Padilla, Carmencita D; Cutiongco-de la Paz, Eva Maria C; Deleyiannis, Frederic; Christensen, Kaare; Munger, Ronald G; Lie, Rolv T; Wilcox, Allen; Romitti, Paul A; Castilla, Eduardo E; Mereb, Juan C; Poletta, Fernando A; Orioli, Iêda M; Carvalho, Flavia M; Hecht, Jacqueline T; Blanton, Susan H; Buxó, Carmen J; Butali, Azeez; Mossey, Peter A; Adeyemo, Wasiu L; James, Olutayo; Braimah, Ramat O; Aregbesola, Babatunde S; Eshete, Mekonen A; Abate, Fikre; Koruyucu, Mine; Seymen, Figen; Ma, Lian; de Salamanca, Javier Enríquez; Weinberg, Seth M; Moreno, Lina; Murray, Jeffrey C; Marazita, Mary L

    2016-07-01

    Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental factors. Previous genome-wide association studies (GWASs) have identified at least 15 risk loci for CL/P. As these loci do not account for all of the genetic variance of CL/P, we hypothesized the existence of additional risk loci. We conducted a multiethnic GWAS in 6480 participants (823 unrelated cases, 1700 unrelated controls and 1319 case-parent trios) with European, Asian, African and Central and South American ancestry. Our GWAS revealed novel associations on 2p24 near FAM49A, a gene of unknown function (P = 4.22 × 10(-8)), and 19q13 near RHPN2, a gene involved in organizing the actin cytoskeleton (P = 4.17 × 10(-8)). Other regions reaching genome-wide significance were 1p36 (PAX7), 1p22 (ARHGAP29), 1q32 (IRF6), 8q24 and 17p13 (NTN1), all reported in previous GWASs. Stratification by ancestry group revealed a novel association with a region on 17q23 (P = 2.92 × 10(-8)) among individuals with European ancestry. This region included several promising candidates including TANC2, an oncogene required for development, and DCAF7, a scaffolding protein required for craniofacial development. In the Central and South American ancestry group, significant associations with loci previously identified in Asian or European ancestry groups reflected their admixed ancestry. In summary, we have identified novel CL/P risk loci and suggest new genes involved in craniofacial development, confirming the highly heterogeneous etiology of OFCs.

  18. Genome Scan, Fine-Mapping, and Candidate Gene Analysis of Non-Syndromic Cleft Lip with or without Cleft Palate Reveals Phenotype-Specific Differences in Linkage and Association Results

    PubMed Central

    Marazita, Mary L.; Lidral, Andrew C.; Murray, Jeffrey C.; Field, L.Leigh; Maher, Brion S.; Goldstein McHenry, Toby; Cooper, Margaret E.; Govil, Manika; Daack-Hirsch, Sandra; Riley, Bridget; Jugessur, Astanand; Felix, Temis; Morene, Lina; Mansilla, M.Adela; Vieira, Alexandre R.; Doheny, Kim; Pugh, Elizabeth; Valencia-Ramirez, Consuelo; Arcos-Burgos, Mauricio

    2009-01-01

    Objectives Non-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P). Methods We performed linkage analyses of a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant linkage results were followed by association analyses of 1,476 SNPs in candidate genes and regions, utilizing a weighted false discovery rate (wFDR) approach to control for multiple testing and incorporate the genome scan results. Results Significant (multipoint HLOD ≥3.2) or genome-wide-significant (HLOD ≥4.02) linkage results were found for regions 1q32, 2p13, 3q27-28, 9q21, 12p11, 14q21-24 and 16q24. SNPs in IRF6 (1q32) and in or near FOXE1 (9q21) reached formal genome-wide wFDR-adjusted significance. Further, results were phenotype dependent in that the IRF6 region results were most significant for families in which affected individuals have CL alone, and the FOXE1 region results were most significant in families in which some or all of the affected individuals have CL with CP. Conclusions These results highlight the importance of careful phenotypic delineation in large samples of families for genetic analyses of complex, heterogeneous traits such as CL/P. PMID:19521098

  19. The Importance of Integration of Stakeholder Views in Core Outcome Set Development: Otitis Media with Effusion in Children with Cleft Palate

    PubMed Central

    Harman, Nicola L.; Bruce, Iain A.; Kirkham, Jamie J.; Tierney, Stephanie; Callery, Peter; O'Brien, Kevin; Williamson, Paula R.

    2015-01-01

    Background Approximately 75% of children with cleft palate (CP) have Otitis Media with Effusion (OME) histories. Evidence for the effective management of OME in these children is lacking. The inconsistency in outcome measurement in previous studies has led to a call for the development of a Core Outcome Set (COS). Despite the increase in the number of published COS, involvement of patients in the COS development process, and methods to integrate the views of patients and health professionals, to date have been limited. Methods and Findings A list of outcomes measured in previous research was identified through reviewing the literature. Opinion on the importance of each of these outcomes was then sought from key stakeholders: Ear, Nose and Throat (ENT) surgeons, audiologists, cleft surgeons, speech and language therapists, specialist cleft nurses, psychologists, parents and children. The opinion of health professionals was sought in a three round Delphi survey where participants were asked to score each outcome using a bespoke online system. Parents and children were also asked to score outcomes in a survey and provided an in-depth insight into having OME through semi-structured interviews. The results of the Delphi survey, interviews and parent/patient survey were brought together in a final consensus meeting with representation from all stakeholders. A final set of eleven outcomes reached the definition of “consensus in” to form the recommended COS: hearing; chronic otitis media (COM); OME; receptive language skills; speech development; psycho social development; acute otitis media (AOM); cholesteatoma; side effects of treatment; listening skills; otalgia. Conclusions We have produced a recommendation about the outcomes that should be measured, as a minimum, in studies of the management of OME in children with CP. The development process included input from key stakeholders and used novel methodology to integrate the opinion of healthcare professionals

  20. Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

    PubMed Central

    Ludwig, Kerstin U.; Ahmed, Syeda Tasnim; Böhmer, Anne C.; Sangani, Nasim Bahram; Varghese, Sheryil; Klamt, Johanna; Schuenke, Hannah; Gültepe, Pinar; Hofmann, Andrea; Rubini, Michele; Aldhorae, Khalid Ahmed; Steegers-Theunissen, Regine P.; Rojas-Martinez, Augusto; Reiter, Rudolf; Borck, Guntram; Knapp, Michael; Nakatomi, Mitsushiro; Graf, Daniel; Mangold, Elisabeth; Peters, Heiko

    2016-01-01

    Nonsyndromic orofacial clefts are common birth defects with multifactorial etiology. The most common type is cleft lip, which occurs with or without cleft palate (nsCLP and nsCLO, respectively). Although genetic components play an important role in nsCLP, the genetic factors that predispose to palate involvement are largely unknown. In this study, we carried out a meta-analysis on genetic and clinical data from three large cohorts and identified strong association between a region on chromosome 15q13 and nsCLP (P = 8.13×10−14 for rs1258763; relative risk (RR): 1.46, 95% confidence interval (CI): 1.32–1.61)) but not nsCLO (P = 0.27; RR: 1.09 (0.94–1.27)). The 5 kb region of strongest association maps downstream of Gremlin-1 (GREM1), which encodes a secreted antagonist of the BMP4 pathway. We show during mouse embryogenesis, Grem1 is expressed in the developing lip and soft palate but not in the hard palate. This is consistent with genotype-phenotype correlations between rs1258763 and a specific nsCLP subphenotype, since a more than two-fold increase in risk was observed in patients displaying clefts of both the lip and soft palate but who had an intact hard palate (RR: 3.76, CI: 1.47–9.61, Pdiff<0.05). While we did not find lip or palate defects in Grem1-deficient mice, wild type embryonic palatal shelves developed divergent shapes when cultured in the presence of ectopic Grem1 protein (P = 0.0014). The present study identified a non-coding region at 15q13 as the second, genome-wide significant locus specific for nsCLP, after 13q31. Moreover, our data suggest that the closely located GREM1 gene contributes to a rare clinical nsCLP entity. This entity specifically involves abnormalities of the lip and soft palate, which develop at different time-points and in separate anatomical regions. PMID:26968009

  1. Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

    PubMed Central

    Leslie, Elizabeth J.; Taub, Margaret A.; Liu, Huan; Steinberg, Karyn Meltz; Koboldt, Daniel C.; Zhang, Qunyuan; Carlson, Jenna C.; Hetmanski, Jacqueline B.; Wang, Hang; Larson, David E.; Fulton, Robert S.; Kousa, Youssef A.; Fakhouri, Walid D.; Naji, Ali; Ruczinski, Ingo; Begum, Ferdouse; Parker, Margaret M.; Busch, Tamara; Standley, Jennifer; Rigdon, Jennifer; Hecht, Jacqueline T.; Scott, Alan F.; Wehby, George L.; Christensen, Kaare; Czeizel, Andrew E.; Deleyiannis, Frederic W.-B.; Schutte, Brian C.; Wilson, Richard K.; Cornell, Robert A.; Lidral, Andrew C.; Weinstock, George M.; Beaty, Terri H.; Marazita, Mary L.; Murray, Jeffrey C.

    2015-01-01

    Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and European trios, and carried out a series of statistical and functional analyses. Within a cluster of strongly associated common variants near NOG, we found that one, rs227727, disrupts enhancer activity. We furthermore identified significant clusters of non-coding rare variants near NTN1 and NOG and found several rare coding variants likely to affect protein function, including four nonsense variants in ARHGAP29. We confirmed 48 de novo mutations and, based on best biological evidence available, chose two of these for functional assays. One mutation in PAX7 disrupted the DNA binding of the encoded transcription factor in an in vitro assa