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Sample records for complete cleft lip

  1. Cleft lip and palate repair

    MedlinePlus

    Orofacial cleft; Craniofacial birth defect repair; Cheiloplasty; Cleft rhinoplasty; Palatoplasty; Tip rhinoplasty ... A cleft lip is a birth defect: A cleft lip may be just a small notch in the lip. It may also be a complete split in the ...

  2. Cleft Lip and Palate

    MedlinePlus

    ... Got Homework? Here's Help White House Lunch Recipes Cleft Lip and Cleft Palate KidsHealth > For Kids > Cleft Lip ... to the back of your mouth. What's a Cleft Lip or Cleft Palate? The word cleft means a ...

  3. Cleft Lip and Cleft Palate

    MedlinePlus

    ... Age Support Resources Books for Kids and Adults Cleft Lip/Palate & Craniofacial Specialists in Your Area FAQs for ... Conference: For Patients and Families Glossary of Terms Cleft lip and cleft palate comprise the most common birth ...

  4. Cleft Lip and Palate

    MedlinePlus

    Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during ... A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the ...

  5. Cleft lip and palate

    MedlinePlus

    Cleft lip and palate are birth defects that affect the upper lip and the roof of the mouth. ... There are many causes of cleft lip and palate. Problems with genes ... viruses, or other toxins can all cause these birth defects. ...

  6. Cleft lip and palate

    MedlinePlus

    Cleft palate; Craniofacial defect ... way to the base of the nose. A cleft palate can be on 1 or both sides of ... nose, and palate confirms a cleft lip or cleft palate. Medical tests may be done to rule out ...

  7. Cleft Lip and Cleft Palate

    MedlinePlus

    ... refers to a cleft in the lip only accounting for 20 percent of all clefts. What causes ... permission. Oral Cavity Get Involved Professional Development Practice Management ENT Careers Marketplace Privacy Policy Terms of Use ...

  8. Cleft Lip and Palate

    MedlinePlus

    ... ear infections, hearing loss, and problems with their teeth. Often, surgery can close the lip and palate. Cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done ...

  9. Cleft Lip and Palate Surgery

    MedlinePlus

    ... The experts in face, mouth and jaw surgery. Cleft Lip / Palate and Craniofacial Surgery This type of surgery ... to correct a physical defect caused by a cleft lip or cleft palate, which occur once in every ...

  10. Cleft lip repair - series (image)

    MedlinePlus

    ... in the middle of the upper lip. A cleft palate is an opening in the roof of the ... Cleft lip repair and cleft palate repair are indicated for: Repair of physical deformity Nursing, feeding, or speech problems resulting from cleft lip or palate

  11. Cleft Lip Nose.

    PubMed

    Sykes, Jonathan M; Tasman, Abel-Jan; Suárez, Gustavo A

    2016-01-01

    All patients with a cleft lip deformity have an associated nasal deformity that varies in degree of severity. A three-dimensional understanding of the anatomy of the cleft nose aids surgeons in selecting the proper technique for repair. Analysis and performance of orthognathic surgery should be done before nasal surgery to optimize the overall result. Goals of the secondary rhinoplasty include relief of nasal obstruction, creation of symmetry and definition of the nasal base and tip, and management of nasal scarring and webbing. Septal reconstruction in the cleft nose is a key maneuver in cleft rhinoplasty. PMID:26616710

  12. Lip Prints and Inheritance of Cleft Lip and Cleft Palate

    PubMed Central

    CJ, Manasa Ravath; HC, Girish; Hegde, Ramesh B; JK, Savita

    2014-01-01

    Background: Labial mucosa has elevations and depressions forming a pattern called ‘Lip Prints’. Parents of patients with cleft lip &/or palate are known to have a particular lip print pattern. Objectives: Analysis of lip prints and relationship between Cheiloscopy and inheritance of cleft lip &/or cleft palate. Methodology: The study included 100 subjects [study groupparents with children having cleft lip &/or cleft palate, 50 fathers and 50 mothers) and 50 subjects (control group-parents having children without cleft lip &/or cleft palate, 25 fathers and 25 mothers. The lip prints of the subjects were obtained using the cellophane method and analysed using Suzuki & Tsuchihashi classification of lip prints. The data was subjected to Chi- Square test, Fisher Exact test and Student t-test [two tailed, independent]. Results: A new whorl pattern was present in the study group. The groove count was higher in the fathers’ than in the mothers’ prints in the upper lip and vice versa in the lower lip. Conclusion: The new pattern was present in the study group in a significant number of cases. The groove count was significantly high in the study group. These two parameters can be of significant value to similar future studies. PMID:25177633

  13. Pre-surgical Alveolar Molding in A Newborn Patient with Complete Unilateral Cleft Lip and Palate-A Report

    PubMed Central

    Nandlal, B; Reddy, Sudhakar

    2014-01-01

    Clefts of the lip, alveolus and palate (CLAP) are the most common congenital malformations seen in the head and neck region. Children with CLAP face a vast variety of problems like feeding difficulties, hearing loss (ear infections), missing or malformed teeth and speech defects, along with psychosocial stigma which influences the social development and rehabilitation of such patients. Management of CLAP has been recognized as a unique challenge for parents as well as medical team. Pre-surgical alveolar molding has shown promising results in solving the problems which are associated with CLAP, to a great extent. We are reporting a case of a newborn patient with complete unilateral cleft lip and palate, who had inability in suckling and nasal regurgitation of oral fluids since birth, which were aided by providing a Pre-surgical alveolar molding to facilitate feeding and also to improve future facial appearance. This article highlights the effectiveness of alveolar molding appliance which was used to direct growth of the alveolar ridges and lips in the pre surgical treatment of cleft lip and palate. As a result of this appliance, the primary surgical repair of the nose and lip which was done, healed under minimal tension, thereby reducing scar formation and improving the aesthetic results. PMID:24995251

  14. Presurgical nasoalveolar molding orthopedic treatment improves the outcome of primary cheiloplasty of unilateral complete cleft lip and palate, as assessed by naris morphology and cleft gap.

    PubMed

    Sasaki, Hiroyoshi; Togashi, Shinji; Karube, Rei; Yanagawa, Toru; Nakane, Shizuo; Tabuchi, Katsuhiko; Ishibashi, Naomi; Shinya, Yoshiko; Ito, Hiroyuki; Yamagata, Kenji; Onizawa, Kojiro; Adachi, Koji; Sekido, Mitsuru; Bukawa, Hiroki

    2012-11-01

    We evaluated the effects of presurgical nasoalveolar molding (NAM) with an orthopedic appliance and compared them with a passive orthopedic method (Hotz plate, HP), focusing on the naris morphology and width of the alveolar and palate cleft gap. The subjects were 28 unilateral complete cleft lip and palate patients treated with primary cheiloplasty at Tsukuba University Hospital from 2004 to 2011. Thirteen patients were treated preoperatively with NAM (NAM group), and 15 with HP (HP group). The surgical outcome was assessed according to left-right naris symmetry, as measured by the area ratio, perimeter ratio, aspect a/u ratio (aspect ratio of the affected side/aspect ratio of the unaffected side), and Hausdorff distance. In addition, the alveolar and palate cleft width was measured at the times of orthopedic plate setting and primary cheiloplasty. The aspect ratio was significantly smaller in the NAM group than in the HP group before the operation. In both groups, the aspect ratio, perimeter ratio, and Hausdorff distance were significantly smaller after the operation than before. The width of the alveolar and palate cleft gap was significantly narrowed in the NAM group, and the cleft gap at the initiation of NAM correlated significantly with the Hausdorff distance after cheiloplasty. We found that NAM improved the form of the naris after primary cheiloplasty and decreased the palate cleft gap more effectively than HP and that the width of the palate cleft gap was correlated with the surgical outcome of the naris. PMID:23147280

  15. [Anesthesia Management for Primary Cleft Lip Closure in an Infant with Congenital Total Length Complete Tracheal Rings].

    PubMed

    Yoshinaga, Junichi; Miyazawa, Noriko; Hanzawa, Atsushi; Miwa, Sakurako; Oyama, Nami; Yamamoto, Shinichi

    2015-06-01

    Complete tracheal ring causes congenital tracheal stenosis in neonates and infants. We have to prevent further tracheal stenosis in perioperative period. This is a case report of an infant with congenital tracheal stenosis due to complete tracheal ring who underwent primary cleft lip closure under general anesthesia. An 8 month-old boy was scheduled for bilateral cleft lip closure. His first operation at two months was canceled because of unsuccessful intubation in previous hospital. He came to our hospital to seek a second opinion. His CT scan showed long segment stenosis of the trachea below glottis. The tracheobronchial endoscopy showed complete tracheal rings 1.5 cm below glottis to the bifurcation. Considering his aspiration episode, we decided to do the cleft lip closure promptly after examinations. We chose an ID 3.0 mm RAE tracheal tube, which is commercially narrowest We intubated 2 cm below glottis, and confirmed that the tip did not touch narrowed trachea with endoscope. This tube was fixed in the center of the mandible and packed with gauze. He was discharged on 8 POD without complication. CT scan and its integrated 3 D image of the trachea were useful to understand the approximate structure. However endoscopic examination allowed more detailed structure-measurement below glottis. PMID:26437553

  16. Cleft Lip and Cleft Palate

    MedlinePlus

    ... virus and pregnancy Microcephaly Medicine safety and pregnancy Birth defects prevention Learn how to help reduce your risk ... of all races about the same. Can other birth defects happen along with oral clefts? Yes. There are ...

  17. 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…

  18. Cleft lip: The historical perspective.

    PubMed

    Bhattacharya, S; Khanna, V; Kohli, R

    2009-10-01

    The earliest documented history of cleft lip is based on a combination of religion, superstition, invention and charlatanism. While Greeks ignored their existence, Spartans and Romans would kill these children as they were considered to harbour evil spirits. When saner senses prevailed Fabricius ab Aquapendente (1537-1619) was the first to suggest the embryological basis of these clefts. The knowledge of cleft lip and the surgical correction received a big boost during the period between the Renaissance and the 19th century with the publication of Pierre Franco's Petit Traite and Traite des Hernies in which he described the condition as "lievre fendu de nativite" (cleft lip present from birth). The first documented Cleft lip surgery is from China in 390 BC in an 18 year old would be soldier, Wey Young-Chi. Albucasis of Arabia and his fellow surgeons used the cautery instead of the scalpel and Yperman in 1854 recommended scarifying the margins with a scalpel before suturing them with a triangular needle dipped in wax. The repair was reinforced by passing a long needle through the two sides of the lip and fixing the shaft of the needle with a figure-of-eight thread over the lip. Germanicus Mirault can be credited to be the originator of the triangular flap which was later modified by C.W. Tennison in 1952 and Peter Randall in 1959. In the late 50s, Ralph Millard gave us his legendary 'cut as you go' technique. The protruding premaxilla of a bilateral cleft lip too has seen many changes throughout the ages - from being discarded totally to being pushed back by wedge resection of vomer to finally being left to the orthodontists. PMID:19884680

  19. Early Orthopedic Retraction of the Premaxilla in Bilateral Complete Cleft Lip and Palate: An Innovative Approach to a Difficult Problem.

    PubMed

    Mahmood, Rizwan; Flood, Tim; Robinson, Stephen; Al-Gholmy, Mohammed

    2016-05-01

    Bilateral cleft lip and palate occurs in 9.2% of cleft patients. Many approaches have been adopted to manage the protrusive premaxillary segment in patients with bilateral cleft lip and palate. Some advocate the use of intraoral appliances, occasionally combined with invasive surgery, which often requires revision at a later date. The authors describe the case of a 3-year-old child born with bilateral cleft lip and palate presenting with a protuberant premaxilla and an overjet greater than 25 mm. Prompt intervention was warranted in this case due to the potential for traumatic compromise to the dentition of the premaxillary segment and a distinct lack of social integration reported by the parents. The patient was managed with a novel, innovative approach using orthodontic traction and minimally invasive surgery. The literature has been reviewed and the patient's subsequent physiological and psychosocial development has been monitored. He has since undergone successful alveolar bone grafting. PMID:25647517

  20. Molecular contribution to cleft palate production in cleft lip mice

    PubMed Central

    Sasaki, Yasunori; Taya, Yuji; Saito, Kan; Fujita, Kazuya; Aoba, Takaaki; Fujiwara, Taku

    2014-01-01

    Cleft palate following cleft lip may include a developmental disorder during palatogenesis. CL/Fr mice fetuses, which develop cleft lip and palate spontaneously, have less capability for in vivo cell proliferation in palatal mesenchyme compared with CL/Fr normal fetuses. In order to know the changes of signaling molecules contributing to cleft palate morphogenesis following cleft lip, the mRNA expression profiles were compared in palatal shelves oriented vertically (before elevation) in CL/Fr fetuses with or without cleft lip. The changes in mRNA profile of cleft palate morphogenesis were presented in a microarray analysis, and genes were restricted to lists contributing to cleft palate development in CL/Fr fetuses with cleft lip. Four candidate genes (Ywhab, Nek2, Tacc1 and Frk) were linked in a gene network that associates with cell proliferation (cell cycle, MAPK, Wnt and Tgf beta pathways). Quantitative real-time RT-PCR highlighted the candidate genes that significantly changed in CL/Fr fetuses with cleft lip (Ywhab, Nek2 and Tacc1). The results of these molecular contributions will provide useful information for a better understanding of palatogenesis in cleft palate following cleft lip. Our data indicated the genetic contribution to cleft palate morphogenesis following cleft lip. PMID:24206222

  1. Molecular contribution to cleft palate production in cleft lip mice.

    PubMed

    Sasaki, Yasunori; Taya, Yuji; Saito, Kan; Fujita, Kazuya; Aoba, Takaaki; Fujiwara, Taku

    2014-05-01

    Cleft palate following cleft lip may include a developmental disorder during palatogenesis. CL/Fr mice fetuses, which develop cleft lip and palate spontaneously, have less capability for in vivo cell proliferation in palatal mesenchyme compared with CL/Fr normal fetuses. In order to know the changes of signaling molecules contributing to cleft palate morphogenesis following cleft lip, the mRNA expression profiles were compared in palatal shelves oriented vertically (before elevation) in CL/Fr fetuses with or without cleft lip. The changes in mRNA profile of cleft palate morphogenesis were presented in a microarray analysis, and genes were restricted to lists contributing to cleft palate development in CL/Fr fetuses with cleft lip. Four candidate genes (Ywhab, Nek2, Tacc1 and Frk) were linked in a gene network that associates with cell proliferation (cell cycle, MAPK, Wnt and Tgf beta pathways). Quantitative real-time RT-PCR highlighted the candidate genes that significantly changed in CL/Fr fetuses with cleft lip (Ywhab, Nek2 and Tacc1). The results of these molecular contributions will provide useful information for a better understanding of palatogenesis in cleft palate following cleft lip. Our data indicated the genetic contribution to cleft palate morphogenesis following cleft lip. PMID:24206222

  2. Effects of early and late cheiloplasty on anterior part of maxillary dental arch development in infants with unilateral complete cleft lip and palate

    PubMed Central

    2016-01-01

    Objectives. The objective of this study is to compare the impact of early and late reconstruction of complete unilateral cleft lip and palate on the growth and development of the front of the dentoalveolar arch. Methods. This study was carried out in the years 2012–2015 at the Clinic of Plastic, Reconstructive and Aesthetic Surgery in Banska Bystrica. Infants with unilateral complete cleft lip and palate were divided into 2 groups according to the timing of lip reconstruction. Group A consisted of infants with early lip reconstruction–realised in the first 14 days of life. Group B consisted of infants with later lip reconstruction–realised in the third month of age. Maxillary dental casts were obtained for each child in four periods–in the first 14 days of life, in the third month, in the sixth month and in the age of one year. These were followed by the identification, measurement and evaluation of anthropometric parameters. Results. Significant differences were occurred after the reconstruction of the lips in linear and angle measurements between infants in the A and B groups. Conclusion. The early surgical reconstruction of the lips in the first 14 days of life has a positive effect on the growth and development of the anterior segment of the dentoalveolar arch. Early lip reconstruction forms a continuous pressure on the frontal segment, resulting in the earlier remedy of anatomical properties and creates appropriate conditions for the best development of this area. PMID:26893957

  3. Maxillary protraction in patients with cleft lip and palate in mixed dentition: cephalometric evaluation after completion of growth.

    PubMed

    Susami, Takafumi; Okayasu, Mari; Inokuchi, Takato; Ohkubo, Kazumi; Uchino, Natsuko; Uwatoko, Kiwako; Takahashi-Ichikawa, Naoko; Nagahama, Kouhei; Takato, Tsuyoshi

    2014-09-01

    Objective : To clarify the short- and long-term effects of maxillary protraction (MP) in mixed dentition in patients with unilateral cleft lip and palate (UCLP). Design : Retrospective study. Setting : University of Tokyo Hospital. Patients and Intervention : Eleven Japanese patients with UCLP in mixed dentition were treated with MP and followed up until the completion of growth. Multibracket treatment had been performed after MP treatment in all patients. Main Outcome Measure : Lateral cephalograms taken before and after MP and after completion of growth were used. Posterior and anterior vertical reference lines (PV, AV) were used to measure the horizontal movements of point A, pogonion, and maxillary first molar (U6). SNA, SNB, ANB, maxillary and mandibular length, mandibular plane angle, Wits value, upper incisor inclination, overjet, and overbite were also measured. Results : Large variation was found in the effects of MP, and five patients eventually required orthognathic surgery. In average change with MP, the maxilla showed favorable forward growth. Point A had moved forward from PV but not AV. The mandible rotated backward. However, ANB and the Wits value did not improve. U6 moved forward, and the overjet improved. After MP, the skeletal Class III relationship became severe. Conclusions : MP was effective as an early treatment for UCLP patients. However, its effects showed large variation and were in conflict with facial growth. Conscientious explanation of the expected effects and associated problems should be given to the patients/parents before its application. PMID:24010865

  4. 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

  5. Cleft Lip and Palate (For Parents)

    MedlinePlus

    ... and breathing, overbites/underbites, and appearance. Dental and Orthodontic Treatment Maintaining healthy teeth and preventing cavities is ... Kids with cleft lip and palate may begin orthodontic treatment as early as 6 years of age. ...

  6. [Laser navigation guided cleft lip repair].

    PubMed

    Bing, Shi

    2016-06-01

    A new method using the ideal mid-facial line as the navigating reference was introduced to improve the outcome of cleft lip repair. Using the verticle coordinate crossing the middle point of the intercanthus line, surgeons could observe and correct the distortion of the fine structures in labial-nasal area. This laser projecting mid-facial-line navigation was repeatable, while not interfere the operating. In conclusion, generalizing laser navigation is a valuable supplementary for cleft lip repair. PMID:27526442

  7. Presurgical nasoalveolar moulding in unilateral cleft lip and palate

    PubMed Central

    Zuhaib, Mohammed; Bonanthaya, Krishnamurthy; Parmar, Renu; Shetty, Pritham N.; Sharma, Pradeep

    2016-01-01

    Context: Presurgical nasoalveolar moulding (PNAM) is a non-surgical method of reshaping the cleft lip, alveolus, palate and the nose to minimize the severity of the cleft deformity, before primary cheiloplastyand palatoplasty. In this context, PNAM proves to be an invaluable asset in the management of unilateral cleft lip and palate. Aims: The study was conducted to evaluate the efficacy of PNAM in the management of unilateral cleft lip and palate with the following objectives: (1) To assess and compare the degree of reduction in the size of cleft palate and alveolus (pre-PNAM and post-PNAM). (2) To evaluate and compare the improvement in columellar length and correction of columellar deviation (pre-PNAM and post-PNAM). (3) To assess the changes in the position of the alar base and the alar cartilages. Settings and Design: Prospective study. Subjects and Methods: A prospective study consisting of, which included 20 patients with complete unilateral cleft lip and palate was conducted. The age at the start of PNAM treatment of the infants ranged from 2 to 44 days of age reporting to our institute between December 2011 and August 2013. All the patients underwent PNAM therapy before primary cheiloplasty at 6 months of age; clinical parameters were assessed pre- and post-therapy using photographs and dental study models of the maxilla. Statistical Analysis Used: Student's t-test for paired comparisons. Results: Results of the study showed a promising reduction in the cleft size before the surgery, significant improvement in nasal symmetry, including the columellar length on the cleft side. Conclusions: PNAM is a valuable adjunct to our surgical armamentarium in dealing with the challenges of primary closure of unilateral cleft lip and palate thereby enhancing the overall surgical outcome. The advantages of this method include the simplicity of the procedure and improving the quality of surgical repair, particularly in obtaining tension free muscle closure in unilateral

  8. The Cleft Lip Nose: Primary and Secondary Treatment.

    PubMed

    Wolfe, Stephen Anthony; Nathan, Nirmal R; MacArthur, Ian R

    2016-01-01

    This article presents an overview of the cleft lip nasal deformity and its treatment. The complex pathologic changes to normal nasal anatomy are described, and treatment strategies for both unilateral and bilateral cleft lip patients are presented. The surgical technique for management of the cleft lip nasal deformity is discussed as it pertains to both primary and secondary correction. PMID:26616709

  9. [The adolescent with cleft lip and palate].

    PubMed

    Chapados, C

    1998-02-01

    Research studies afford an in-depth look at the problems experienced by adolescents born with a cleft lip, a cleft palate or cleft lip and palate. If not addressed, their problems can multiply with each successive stage of development. An interdisciplinary team, where the adolescents themselves play an important role, is one of the best means of helping them come to terms with the consequences of the abnormality. The nurse should be a key member of the team. To help adolescents cope with their situation now and in the future, the author promotes a holistic and humanistic approach. Here, she sees nurses creating therapeutic alliances as educators. She recommends that nurses assert themselves more as professionals and as essential resources. Her doctoral thesis proposes a training model to this effect. PMID:9573899

  10. 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

  11. 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

    2016-03-01

    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

  12. 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…

  13. Periodontal Status Among Patients With Cleft Lip (CL), Cleft Palate (CP) and Cleft Lip, Alveolus and Palate (CLAP) In Chennai, India. A Comparative Study

    PubMed Central

    John, Joseph

    2015-01-01

    Background: Long term health of the stomatognathic system as well as esthetic aspects is the therapeutic goals in patients with oro facial clefts. Aim: The aim of this study was to assess and compare the periodontal status of patients with cleft lip (CL), cleft palate (CP) and cleft lip, alveolus and palate (CLAP) reporting to a hospital in Chennai, India. Materials and Methods: The study group consisted of 80 cleft patients. Subjects were divided into three groups. Group 1: patients with cleft lip (CL), Group 2: subjects with cleft palate (CP) and Group 3: subjects with cleft lip alveolus and palate (CLAP). Community Periodontal Index for Treatment needs CPITN Index was recorded. Results: Among the 80 study subjects, 51 (63.8%) were males and 29 (36.2%) were females. Among the 26 study subjects with cleft lip, 10 (38.5%) had healthy periodontium, 4 (15.4%) had bleeding on probing and 12 (46.1%) had calculus. Mean number of sextants coded for healthy and bleeding was maximum among the subjects with cleft palate. Mean number of sextants coded for calculus was maximum among the subjects with cleft lip alveolus and palate. Prevalence of periodontal disease is high among patients with cleft lip, alveolus and palate (35%) than in Cleft lip (32.5%) and Cleft Palate (32.5%). Conclusion: Gingivitis and Calculus is predominantly high in patients with Cleft Palate and Cleft Lip respectively. PMID:25954706

  14. Description of a clinical technique for tooth extraction in the cleft lip and palate area.

    PubMed

    Dalben, G S; Gomide, M R; Costa, B; Neves, L T

    2001-03-01

    Cleft lip and palate are relatively common congenital malformations, which may require specialist paedodontic treatment. In this article, the case of a 9-year-old boy with bilateral complete cleft lip and palate is presented. He attended the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC) for routine examination, during which the presence of pre-canine supernumeraries bilaterally in the cleft area was seen. The extraction of these dental elements was justified by extensive carious lesions and because they represented a potential problem during secondary palatoplasty. The precautions needed in tooth extraction in patients with cleft lip and palate are described, together with illustrations of the clinical procedure. PMID:11310139

  15. Correlation of vermilion symmetry to alveolar cleft defect in unilateral cleft lip repair.

    PubMed

    Bonanthaya, K; Rao, D D; Shetty, P; Uguru, C

    2016-06-01

    Asymmetry is a major problem in repaired unilateral cleft lip (UCL). One of the important manifestations of this is the asymmetry of the vermilion. The aim of this study was to correlate the severity of the asymmetry in the vermilion to the size of the alveolar defect. Twenty patients aged between 6 and 18 months with complete unilateral cleft lip, alveolus, and palate were included. An impression of each patient's alveolus at the time of cheiloplasty was taken using silicon rubber base material, and a study cast was prepared. The width of the cleft alveolus was measured on these casts using a transparent grid. Frontal photographs were taken at 6 months postoperative and vermilion symmetry was measured as the ratio between the cleft and non-cleft sides. The results obtained in this study showed a direct correlation between the size of the alveolar defect and the vermilion symmetry in repaired UCL. The wider the cleft alveolus and greater the antero-posterior discrepancy, the greater is the vermilion asymmetry. The asymmetry of the vermilion in UCL after repair is directly dependent on the size of the alveolar defect. The alveolar discrepancy causes 'in-rolling' of the vermilion on the cleft side and affects the vermilion symmetry. PMID:26754270

  16. 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

  17. 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…

  18. Cleft Lip Repair: The Hybrid Subunit Method.

    PubMed

    Tollefson, Travis T

    2016-04-01

    The unilateral cleft lip repair is one of the most rewarding and challenging of plastic surgery procedures. Surgeons have introduced a variety of straight line, geometric, and rotation-advancement designs, while in practice the majority of North American surgeons have been using hybrids of the rotation-advancement techniques. The anatomic subunit approach was introduced in 2005 by Fisher and has gained popularity, with early adopters of the design touting its simplicity and effectiveness. The objectives of this article are to summarize the basic tenets of respecting the philtral subunit, accurate measurement and planning, and tips for transitioning to this subunit approach. PMID:27097136

  19. Unfavourable results in the repair of the cleft lip

    PubMed Central

    Narayanan, Puthucode V.; Adenwalla, Hirji Sorab

    2013-01-01

    Introduction: Unfavorable results in unilateral and bilateral cleft lip repair are often easy to spot but not always easy to prevent as to treat. We have tried to deal with the more common problems and explain possible causes and the best possible management options from our experience. Unilateral cleft lip repair: Unfavorable results immediately after repair involve Dehiscence and Scaring. Delayed blemishes include vermillion notching, a short lip, deficiency in the height of the lateral vermillion on the cleft side, white roll malalignment, oro-vestibular fistula, the cleft lip nose deformity, a narrow nostril and a “high-riding” nostril. We analyze the causes of these blemishes and outline our views regarding the treatment of these. Bilateral cleft lip: Immediate problems again include dehiscence as also loss of prolabium or premaxilla. Delayed unfavorable results are central vermillion deficiency, a lip that is too tight, bilateral cleft lip nose deformity, problems with the premaxilla and maxillary growth disturbances. Here again we discuss the causation of these problems and our preferred methods of treatment. Conclusion: We have detailed the significant unfavorable results after unilateral and bilateral cleft lip surgery. The methods of treatment advocated have been layer from our own experience. PMID:24501453

  20. Surgical repair of the isolated incomplete median cleft lip.

    PubMed

    Topkara, A; Özkan, A; Özcan, R H; Öksüz, M

    2016-02-01

    Median cleft lip refers to a vertical cleft on the midline of the upper lip. It is a rare congenital craniofacial anomaly brought about by a fusion failure in the medial nasal prominence. A novel surgical approach to median cleft lips and their repair is reported herein, with reference to a clinical case. The patient had a cleft in the lower half of the upper lip. There were no other craniofacial anomalies in this patient other than the cleft. Within the framework of the patient's surgical treatment, a functional and cosmetically satisfactory result was achieved by performing a V-Y advancement flap on the columella base, Z-plasty in the vermillion zone, and Z pattern muscular tissue repair, without having to resort to any tissue excisions. PMID:26364580

  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. PMID:26775633

  2. Use of Biphasic Continuous Positive Airway Pressure in Premature Infant with Cleft Lip-Cleft Palate.

    PubMed

    George, Lovya; Jain, Sunil K

    2015-10-01

    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

  3. Presurgical nasal moulding in a neonate with cleft lip

    PubMed Central

    Deshpande, Anshula; Shah, Dixit; Macwan, Chirag S

    2014-01-01

    The concept of presurgical nasoalveolar moulding (PNM) was developed to improve the aesthetic result of surgically corrected cleft lip. This paper presents the method of fabrication of PNM appliance and the case of a 30-day-old neonate with unilateral cleft lip in whom nasal moulding was performed. Treatment was initiated at 30 days and continued for 60 days after which the surgical correction of cleft lip was performed. Significant improvement in aesthetics and symmetry of the nose was achieved at the end of the treatment. PMID:24928928

  4. Studies with WNT Genes and Nonsyndromic Cleft Lip and Palate

    PubMed Central

    Menezes, Renato; Letra, Ariadne; Kim, Ana H.; Kuchler, Erika C.; Day, Alicia; Tannure, Patricia N.; da Motta, Luise Gomes; Paiva, Katiucia Batista; Granjeiro, Jose M.; Vieira, Alexandre R.

    2010-01-01

    Background Clefts of the lip and/or palate (cleft lip/palate) are notable for their complex etiology. The WNT pathway regulates multiple developmental processes including craniofacial development and may play a role in cleft lip/palate and other defects of craniofacial development such as tooth agenesis. Variations in WNT genes have been recently associated with cleft lip/palate in humans. In addition, two WNT genes, Wnt3 and Wnt9B, are located in the clf1 cleft locus in mice. Methods We investigated 13 SNPs located in WNT3A, WNT5A, WNT8A, WNT11, WNT3 and WNT9B genes, for association with cleft lip/palate subphenotypes in 500 cleft cases and 500 unrelated controls. Genotyping of selected polymorphisms was carried out using Taqman assays. PLINK 1.06 software was used to test for differences in allele frequencies of each polymorphism between affected and unaffected individuals. Haplotype analysis was also performed. Results Individuals carrying variant alleles in WNT3 presented an increased risk for cleft lip/palate (P=0.0003; OR=1.61 95% C.I: 1.29 -2.02) in the population studied. Conclusion Our results continue to support a role for WNT genes in the pathogenesis of cleft lip/palate. Although much remains to be learned about the function of individual WNT genes during craniofacial development, additional studies should focus in the identification of potentially functional variants in these genes as contributors to human clefting. PMID:20890934

  5. Clinical Features and Management of a Median Cleft Lip

    PubMed Central

    Kim, Do Yeon; Oh, Tae Suk

    2016-01-01

    Background Median cleft lip is a rare anomaly consisting of a midline vertical cleft through the upper lip. It can also involve the premaxillary bone, the nasal septum, and the central nervous system. In our current report, we present the clinical features of 6 patients with a median cleft lip and their surgical management according to the accompanying anomalies. Methods From December 2010 to January 2014, 6 patients with a median cleft lip were reviewed. Five of these cases underwent surgical correction; alveolar bone grafting was performed in a patient with a median alveolar cleft. The surgical technique included inverted-U excision of the upper lip and repair of the orbicularis oris muscle. The mean follow-up period was 20.4 months (range, 7.4–44.0 months). Results The study patients presented various anomalous features. Five patients received surgical correction, 4 with repair of the median cleft lip, and one with iliac bone grafting for median alveolar cleft. A patient with basal sphenoethmoidal meningocele was managed with transoral endoscopic surgery for repair of the meningocele. Successful surgical repair was achieved in all cases with no postoperative complications. Conclusions Relatively mild forms of median cleft lip can be corrected with inverted-U excision with good aesthetic outcomes. In addition, there is a broad spectrum of clinical features and various anomalies, such as nasal deformity, alveolar cleft, and short upper frenulum, which require close evaluation. The timing of the operation should be decided considering the presence of other anomalies that can threaten patient survival. PMID:27218021

  6. "The open sky rhinoplasty" for correction of secondary cleft lip nose deformity, Technique and recent results.

    PubMed

    Tschopp, H M

    1988-01-01

    The typical nose deformity after cleft-lip repair still represents great challenge for the plastic surgeon in this field. Many methods have been designed in attempts to correct the deformity, either during primary closure of the lip or as a secondary procedure when growth of the nose is complete. In this paper the author's own technique of secondary rhinoseptoplasty in cleft-lip patients is presented. The different cartilaginous and osseous structures are approached through a transcolumellar incision and the skin of the nose completely reflected upwards. This so-called "open sky view" gives a total perspective on the entire pathology of the cleft-lip nose deformity and makes it possible to correct it accordingly. Emphasis is put on some important surgical manoeuvers. Recent results are presented and the pros and cons of this procedure discussed. PMID:3187450

  7. 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. PMID:12378036

  8. Bilateral optic disc pit with maculopathy in a patient with cleft lip and cleft palate

    PubMed Central

    Seth, Anisha; Gupta, Rajat; Gupta, Anika; Raina, Usha K; Ghosh, Basudeb

    2015-01-01

    Optic disc pit (ODP) is small, gray-white, oval depression found at the optic nerve head. It is a congenital defect that occurs due to imperfect closure of superior edge of the embryonic fissure. Cleft lip and palate are also congenital midline abnormalities occurring due to defect in the fusion of frontonasal prominence, maxillary prominence and mandibular prominence. There is only one case report describing the occurrence of ODP in a young patient with cleft lip and palate who also had basal encephalocele. We describe a 52-year-old patient with congenital cleft lip and palate with bilateral ODP with maculopathy but without any other midline abnormality. PMID:26044478

  9. Repair of complete bilateral cleft lip with severely protruding premaxilla performing a premaxillary setback and vomerine ostectomy in one stage surgery

    PubMed Central

    Sanchez-Sanchez, Marta; Iglesias-Martin, Fernando; Garcia-Perla-Garcia, Alberto; Belmonte-Caro, Rodolfo; Gonzalez-Perez, Luis-Miguel

    2015-01-01

    a single-stage surgery, a good primary lip repair at our center. Further confirmations of this surgery with follow up and anthropometric studies of these patients during childhood and adolescence are required. Key words: Protruding premaxilla, bilateral cleft lip, vomerine ostectomy, one stage surgery, Millard II technique. PMID:26034932

  10. 3D finite element model for treatment of cleft lip

    NASA Astrophysics Data System (ADS)

    Jiao, Chun; Hong, Dongming; Lu, Hongbing; Wang, Jianqi; Lin, Qin; Liang, Zhengrong

    2009-02-01

    Cleft lip is a congenital facial deformity with high occurrence rate in China. Surgical procedure involving Millard or Tennison methods is usually employed for treatment of cleft lip. However, due to the elasticity of the soft tissues and the mechanical interaction between skin and maxillary, the occurrence rate of facial abnormality or dehisce is still high after the surgery, leading to multiple operations of the patient. In this study, a framework of constructing a realistic 3D finite element model (FEM) for the treatment of cleft lip has been established. It consists of two major steps. The first one is the reconstruction of a 3D geometrical model of the cleft lip from scanning CT data. The second step is the build-up of a FEM for cleft lip using the geometric model, where the material property of all the tetrahedrons was calculated from the CT densities directly using an empirical curve. The simulation results demonstrated (1) the deformation procedure of the model step-by-step when forces were applied, (2) the stress distribution inside the model, and (3) the displacement of all elements in the model. With the computer simulation, the minimal force of having the cleft be repaired is predicted, as well as whether a given force sufficient for the treatment of a specific individual. It indicates that the proposed framework could integrate the treatment planning with stress analysis based on a realistic patient model.

  11. Presurgical nasoalveolar molding in unilateral cleft lip and palate

    PubMed Central

    Hegde, Rahul J.; Kharkar, Viraj R.; Kamath, Shamika

    2015-01-01

    Unilateral cleft lip and palate (UCLP) patients have an esthetic and functional compromise of the middle third of the face and nasal structures. To improve the esthetic result of lip repair, the concept of presurgical nasoalveolar molding (PNAM) was brought into conception. PNAM is an easy and passive method of bringing the alveolus and lips together by redirecting the forces of natural growth. This case report documents a 2-year follow-up of PNAM in UCLP. PMID:26681868

  12. 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

  13. Ankyloglossia with cleft lip: A rare case report.

    PubMed

    Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

    2015-01-01

    Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

  14. Ankyloglossia with cleft lip: A rare case report

    PubMed Central

    Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

    2015-01-01

    Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

  15. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

    PubMed

    Dhar, Reema Sharma; Bora, Amitava

    2014-01-01

    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report. PMID:25231046

  16. The impact of cleft lip and palate repair on maxillofacial growth.

    PubMed

    Shi, Bing; Losee, Joseph E

    2015-03-01

    Surgical correction is central to current team-approached cleft treatment. Cleft surgeons are always concerned about the impact of their surgical maneuver on the growth of the maxilla. Hypoplastic maxilla, concaved mid-face and deformed dental arch have constantly been reported after cleft treatments. It is very hard to completely circumvent these postoperative complications by current surgical protocols. In this paper, we discussed the factors that inhibit the maxillofacial growth on cleft patients. These factors included pre-surgical intervention, the timing of cleft palate and alveolae repair, surgical design and treatment protocol. Also, we made a review about the influence on the maxillary growth in un-operated cleft patients. On the basis of previous researches, we can conclude that most of scholars express identity of views in these aspects: early palatoplasty lead to maxilla growth inhibition in all dimensions; secondary alveolar bone graft had no influence on maxilla sagittal growth; cleft lip repair inhibited maxilla sagittal length in patients with cleft lip and palate; Veau's pushback palatoplasty and Langenbeck's palatoplasty with relaxing incisions were most detrimental to growth; Furlow palatoplasty showed little detrimental effect on maxilla growth; timing of hard palate closure, instead of the sequence of hard or soft palate repair, determined the postoperative growth. Still, scholars hold controversial viewpoints in some issues, for example, un-operated clefts have normal growth potential or not, pre-surgical intervention and pharyngoplasty inhibited maxillofacial growth or not. PMID:25394591

  17. The impact of cleft lip and palate repair on maxillofacial growth

    PubMed Central

    Shi, Bing; Losee, Joseph E

    2015-01-01

    Surgical correction is central to current team-approached cleft treatment. Cleft surgeons are always concerned about the impact of their surgical maneuver on the growth of the maxilla. Hypoplastic maxilla, concaved mid-face and deformed dental arch have constantly been reported after cleft treatments. It is very hard to completely circumvent these postoperative complications by current surgical protocols. In this paper, we discussed the factors that inhibit the maxillofacial growth on cleft patients. These factors included pre-surgical intervention, the timing of cleft palate and alveolae repair, surgical design and treatment protocol. Also, we made a review about the influence on the maxillary growth in un-operated cleft patients. On the basis of previous researches, we can conclude that most of scholars express identity of views in these aspects: early palatoplasty lead to maxilla growth inhibition in all dimensions; secondary alveolar bone graft had no influence on maxilla sagittal growth; cleft lip repair inhibited maxilla sagittal length in patients with cleft lip and palate; Veau's pushback palatoplasty and Langenbeck's palatoplasty with relaxing incisions were most detrimental to growth; Furlow palatoplasty showed little detrimental effect on maxilla growth; timing of hard palate closure, instead of the sequence of hard or soft palate repair, determined the postoperative growth. Still, scholars hold controversial viewpoints in some issues, for example, un-operated clefts have normal growth potential or not, pre-surgical intervention and pharyngoplasty inhibited maxillofacial growth or not. PMID:25394591

  18. Whorl Patterns on the Lower Lip are Associated with Nonsyndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Neiswanger, Katherine; Chirigos, Kevin W.; Klotz, Cherise M.; Cooper, Margaret E.; Bardi, Kathleen M.; Brandon, Carla A.; Weinberg, Seth M.; Vieira, Alexandre R.; Martin, Rick A.; Czeizel, Andrew E.; Castilla, Eduardo E.; Poletta, Fernando A.; Marazita, Mary L.

    2009-01-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect due to both genetic and environmental factors. Whorl lip print patterns are circular grooves on the central upper lip and/or the left and right lower lip. To determine if whorls are more common in families with CL/P than in controls, the Pittsburgh Orofacial Cleft Study collected lip prints from over 450 subjects, i.e., individuals with CL/P, their relatives, and unrelated controls—from the U.S., Argentina, and Hungary. Using a narrow definition of lower-lip whorl, the frequency of whorls in the U.S sample was significantly elevated in cleft individuals and their family members, compared to unrelated controls (14.8% and 13.2% versus 2.3%; P = 0.003 and 0.001, respectively). Whorls were more frequent in CL/P families from Argentina than in CL/P families from the U.S. or Hungary. If these results are confirmed, whorl lip print patterns could be part of an expanded phenotypic spectrum of nonsyndromic CL/P. As such, they may eventually be useful in a clinical setting, allowing recurrence risk calculations to incorporate individual phenotypic information in addition to family history data. PMID:19921634

  19. 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

  20. Common Dental Anomalies in Cleft Lip and Palate Patients

    PubMed Central

    HAQUE, Sanjida; ALAM, Mohammad Khursheed

    2015-01-01

    Background: Cleft lip and palate (CLP) is the most common orofacial congenital malformation in live births. CLP can occur individually or in combination with other congenital deformities. Affected patients experience a number of dental, aesthetic, speech, hearing, and psychological complications and have a higher incidence of severe dental conditions. The purpose of this study is to characterise the different types of dental anomalies that are frequently associated with CLP patients based on a literature survey. Methods: By literature survey, this study characterises the different types of dental anomalies that are frequently associated with cleft lip and palate patients. Results: Common dental anomalies associated with CLP are supernumerary tooth, congenitally missing tooth, delayed tooth development, morphological anomalies in both deciduous and permanent dentition, delayed eruption of permanent maxillary incisors, microdontia, and abnormal tooth number. Conclusion: The incidence of certain dental anomalies is strongly correlated with Cleft lip and palate, a finding that is consistent with previous studies. PMID:26023296

  1. Contemporary Concepts for the Bilateral Cleft Lip and Nasal Repair

    PubMed Central

    Khosla, Rohit K.; McGregor, Jyoti; Kelley, Patrick K.; Gruss, Joseph S.

    2012-01-01

    The bilateral cleft lip and nasal deformity presents a complex challenge for repair. Surgical techniques continue to evolve and are focused on primary anatomic realignment of the tissues. This can be accomplished in a single-stage or two-stage repair early in infancy to provide a foundation for future growth of the lip and nasal tissue. Most cleft surgeons currently perform a single-stage repair for simplifying patient care. Certain institutions utilize presurgical orthopedics for alignment of the maxillary segments and nasal shaping. Methods for the bilateral cleft lip repair are combined with various open and closed rhinoplasty techniques to achieve improved correction of the primary nasal deformity. There is recent focus on shaping the nose for columellar and tip support, as well as alar contour and alar base position. The authors will present a new technique for closure of the nasal floor to prevent the alveolar cleft fistula. Although the alveolar fistula is closed, alveolar bone grafting is still required at the usual time in dental development to fuse the maxilla. It is paramount to try and minimize the stigmata of secondary deformities that historically have been characteristic of the repaired bilateral cleft lip. A properly planned and executed repair reduces the number of revisions and can spare a child from living with secondary deformities. PMID:24179448

  2. Cleft lip and palate in a Brazilian subpopulation

    PubMed Central

    Cuozzo, Fernanda Dornelles Martins; Espinosa, Mariano Martínez; da Silva, Katia Tavares Serafim; de Barros, Yolanda Benedita Abadia Martins; Bandeca, Matheus Coelho; Aranha, Andreza Maria Fabio; Borges, Alvaro Henrique; Volpato, Luiz Evaristo Ricci

    2013-01-01

    Background: This work aimed to access the profile of cleft lip and palate patients of a sub-population in Mid-West Brazil. Materials & Methods: Research was carried out through a cross-sectional study at the Craniofacial Rehabilitation Center of the University General Hospital of the University of Cuiabá, Mato Grosso, Brazil. Variables related to oral cleft type, gender, race, age and presence or absence of associated congenital anomalies or syndromes were analyzed. Results: 313 patients treated at the institution from 2004 to 2007 were recruited. There were 54% male and 46% female patients with the mean age of 11.4 years. Cleft lip and palate was the most prevalent alteration in 49.6% of cases. Caucasians were the most affected in 54.6% of cases. 6.4% of patients had other anomalies or syndromes associated with cleft. Conclusion: More comprehensive surveys should be conducted in order to supply the lack of data on the occurrence and determinants of oral clefts in this region. How to cite this article:Cuozzo FD, Espinosa MM, Serafim da Silva KT, Martins de Barros YB, Bandeca MC, Aranha AM, Borges AH, Volpato LE. Cleft lip and palate in a Brazilian subpopulation. J Int Oral Health 2013; 5(4):15-20. PMID:24155614

  3. Quantitative assessment of healthy and reconstructed cleft lip using ultrasonography

    PubMed Central

    Devadiga, Sumana; Desai, Anil Kumar; Joshi, Shamsunder; Gopalakrishnan, K.

    2016-01-01

    Purpose: This study is conducted to investigate the feasibility of echographic imaging of tissue thickness of healthy and reconstructed cleft lip. Design: Prospective study. Materials and Methods: The study was conducted in SDM Craniofacial Unit, Dharwad and was approved by Local Institutional Review Board. A total of 30 patients, age group ranging from 4 to 25 years, of which 15 postoperative unilateral cleft lip constituted the test group. The remaining 15 with no cleft deformities, no gross facial asymmetry, constituted the control group. The thickness of the mucosa, submucosa, muscle and full thickness of the upper lip were measured with the transversal images using ultrasonography at midpoint of philtrum, right and left side philtral ridges and vermillion border, at 1, 3, 6 months interval. Results: There was an increase in muscle thickness at the vermillion border (mean = 6.9 mm) and philtral ridge (5.9 mm). Equal muscle thickness were found between the normal and test group at 6 months follow-up in a relaxed position, which was statistically significant (P = 0.0404). Conclusion: Quantitative assessment of thickness and echo levels of various lip tissues are done with proper echographic calibration. Diagnostic potentials of this method for noninvasive evaluation of cleft lip reconstructions were achieved by this study. PMID:27134448

  4. Progress toward discerning the genetics of cleft lip

    PubMed Central

    Lidral, Andrew C.; Moreno, Lina M.

    2009-01-01

    Purpose of review Orofacial clefts are common birth defects with a known genetic component to their etiology. Most orofacial clefts are nonsyndromic, isolated defects, which can be separated into two different phenotypes: (1) cleft lip with or without cleft palate and (2) cleft palate only. Both are genetically complex traits, which has limited the ability to identify disease loci or genes. The purpose of this review is to summarize recent progress of human genetic studies in identifying causal genes for isolated or nonsyndromic cleft lip with or without cleft palate. Recent findings The results of multiple genome scans and a subsequent meta-analysis have significantly advanced our knowledge by revealing novel loci. Furthermore, candidate gene approaches have identified important roles for IRF6 and MSX1. To date, causal mutations with a known functional effect have not yet been described. Summary With the implementation of genome-wide association studies and inexpensive sequencing, future studies will identify disease genes and characterize both gene–environment and gene–gene interactions to provide knowledge for risk counseling and the development of preventive therapies. PMID:16282779

  5. Evolution of my philosophy in the treatment of unilateral cleft lip and palate.

    PubMed

    Brusati, Roberto

    2016-08-01

    At the end of 50-year-long clinical activity, the evolution of my approach to the treatment of unilateral cleft of the lip and palate is discussed. I had several teachers in this field (Rusconi, Reherman, Perko, Delaire, Talmant, Sommerlad and others) and I introduced in my approach what I considered to be improvements from all of them. My current protocol is related to the anatomy of the cleft: for wide clefts a two-stage protocol is applied (1° step: soft palate and lip and nose repair; 2° step: hard palate repair with gingivoalveoloplasty); for narrow cleft (less than 1 cm at the posterior border of hard palate) an "all in one" protocol is performed with or without gingivoalveoloplasty (in accordance to the presence or absence of contact between the stumps at alveolar level). The most important details regarding surgery of the lip and palate are discussed. Robust data collection on speech and skeletal growth is still needed to determine whether the "all in one" approach can be validated as the treatment of choice for unilateral complete lip and palate cleft in selected cases. PMID:27318751

  6. 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.…

  7. Effect of cleft lip palate repair on craniofacial growth

    PubMed Central

    Naqvi, Zuber Ahamed; Shivalinga, BM; Ravi, S; Munawwar, Syeda Sarah

    2015-01-01

    Objective: The aim of this cross-sectional study was to compare craniofacial growth among operated and unoperated unilateral cleft lip and palate non-syndromic subjects. Materials and Methods: A sample of 180 subjects of Indian origin was selected. Of them, 90 were operated, and 90 were unoperated complete unilateral cleft lip and palate individuals. The subjects were divided into three age groups of 3–5, 8–10, and 20–25 years comprised of 30 patients in each group. The following measurements were evaluated: Angle and length of the cranial base; maxillary spatial positioning and length; mandibular spatial positioning; morphology and length; maxillomandibular relationship. Comparative analysis of the means between the groups was performed with Student's t-test at the significance levels of 5%. The ANOVA test has been performed to test the effect of time. Results: No significant differences were observed between the measurements that represented the angle and length of the cranial base of unoperated and the operated patients (P>0.05). There was statistically significant decrease (P˂0.05) in the maxillary length (Co-A; 69.00 mm in 3–5 years, 68.33 mm in 8–10 years, and 67.17 mm in 20–25 years age group), and SNA angle (74.83° in 3–5 years, 74.17 ° in 8–10 years and 73.17 ° in 20–25 years age group) in operated group. No significant difference noticed on cephalometric values of the mandible, except Ar-Go-Me angle (P˂0.05), which showed vertical growth pattern in unoperated patients (132.50 ° in 3–5 years, 132.00 ° I 8–10 years and 138.33 ° in 20–25 years age group). Conclusion: Lip and palate repair has a significant influence on the maxilla and resulting in retarded growth of maxilla, which causes midface deficiency beyond acceptable sagittal limits. The Gonial angle showed vertical growth pattern in unoperated patients, but the cranial base angle and length of unoperated and the operated patients were similar. PMID:26229945

  8. The Essential Anatomical Subunit Approximation Unilateral Cleft Lip Repair.

    PubMed

    Chong, David K; Swanson, Jordan W

    2016-07-01

    The anatomical subunit approximation cleft lip repair advantageously achieves a balanced lip contour, with the line of repair hidden along seams of aesthetic subunits. Dr. David Fisher's original description of the repair reflects the considerable thought that went into the evolution of his design. As his technique has gained acceptance in the intervening 10 years, the authors note several key principles embodied in it that represent a shift in the cleft lip repair paradigm. The authors believe understanding these principles is important to mastery of the anatomical subunit technique, and facilitate its teaching. First, design a plan that adheres to anatomical subunits and perform measurements precisely. Second, identify and adequately release each cleft tissue layer from the lip and nose to enable restoration of balance. Third, drive surgical approximation through inset of the lateral muscle into the superiorly backcut medial orbicularis muscle, followed by skin closure with inferior triangle interposition above the white roll. In this article, the authors present essential components of the technique, and identify several principles that enable its successful execution. PMID:27348690

  9. Causal attributions of cleft lip and palate across cultures.

    PubMed

    Mednick, Lauren; Snyder, Julie; Schook, Carolyn; Blood, Emily A; Brown, Shan-Estelle; Weatherley-White, R C A

    2013-11-01

    Objective : To describe and compare the causal beliefs associated with cleft lips and/or palates across several different countries. Design : Cross-sectional survey. Setting : Operation Smile surgery screenings in six developing countries. Participants : Two hundred seventy-nine adult patients and parents of children with cleft lips and/or palates in Kenya, Russia, Cambodia, India, Egypt, and Peru. Interventions : In person interviews were conducted with interpreters. Main Outcome Measure : As part of a larger study, a semistructured questionnaire was created to explore cleft perceptions, belief systems that affect these perceptions, and social reactions to individuals with clefts. Results : Causal attributions were grouped by category (environment, self-blame, supernatural, chance, unknown, or other) and type of locus of control (external, internal, or unknown). Results indicate significant difference by country for both causal attribution category (P < .001) and type (P < .001). This difference was maintained in multivariate analyses, which controlled for differences by demographic variables between countries. Conclusions : This study provides evidence that causal attributions for clefts are influenced by culture. As harmful beliefs about cause may continue to impact affected individuals and their families even after a repair, it is insufficient to provide surgical care alone. Care of the entire person must include attempts to change misinformed cultural beliefs through educating the broader community. PMID:23030676

  10. Isolated cleft lip with generalized aggressive periodontitis: A rare entity

    PubMed Central

    Metgud, Renuka; Kumar, Ajay; Bhat, Kishore

    2015-01-01

    Oro-facial clefts are one of the most common birth defects and may be associated with other genetic anomalies. Aggressive periodontitis is a rare condition that progresses rapidly, but affects only a small percentage of the population. Most of the cases of aggressive periodontitis are familial. Even though, literature has documented the association of various genetic disorders with aggressive periodontitis, the aggressive periodontitis in patients with isolated cleft lip (CL) have never been addressed. Here, we report a rare case of isolated CL with generalized aggressive periodontitis. The concomitant presentation of isolated CL with aggressive periodontitis in an individual has clinical significance for multi-disciplinary care. PMID:25810600

  11. Surgical management of cleft lip in pedo-patients.

    PubMed

    Taware, C P; Kulkarni, S R

    1991-01-01

    The Present article describes in short etiology of cleft lip and cleft palate. With this in-born defect, patient develops crucial problems with feeding, phonation, overall growth and development of affected and allied soft and hard tissue structures. This in turn results in deformity and asymmetry which is going to affect functional requirements as well as aesthetic outlook. Hence it really becomes mandatory to correct this defect surgically as early as possible, at stipulated timings so as to avoid present and future anticipated problems. PMID:1820390

  12. Isolated cleft lip with generalized aggressive periodontitis: A rare entity.

    PubMed

    Metgud, Renuka; Kumar, Ajay; Bhat, Kishore

    2015-01-01

    Oro-facial clefts are one of the most common birth defects and may be associated with other genetic anomalies. Aggressive periodontitis is a rare condition that progresses rapidly, but affects only a small percentage of the population. Most of the cases of aggressive periodontitis are familial. Even though, literature has documented the association of various genetic disorders with aggressive periodontitis, the aggressive periodontitis in patients with isolated cleft lip (CL) have never been addressed. Here, we report a rare case of isolated CL with generalized aggressive periodontitis. The concomitant presentation of isolated CL with aggressive periodontitis in an individual has clinical significance for multi-disciplinary care. PMID:25810600

  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. Genetic and environmental factors in human cleft lip and palate.

    PubMed

    Vieira, Alexandre R

    2012-01-01

    Cleft lip and palate is the most common craniofacial birth defect and its etiology has been the focus of many reports in the literature. It is well accepted that both genetics and environment play a role in the condition, however we still have not been able to translate what have been learned into clinical applications. This paper provides an interpretation of the latest research findings in humans and a perspective for where the field is going. The latest effort in gene identification and the associations between isolated cleft lip and palate and the loci harboring IRF6 (1q32) and 8q24.21 are highlighted, as well as the latest insight from more sophisticated phenotypical characterization and the inclusion of covariables related to the environment in the analysis of genetic variation. PMID:22759667

  15. Definition of Critical Periods for Hedgehog Pathway Antagonist-Induced Holoprosencephaly, Cleft Lip, and Cleft Palate

    PubMed Central

    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. PMID:25793997

  16. Cleft lip and palate in Madagascar 1998-2007.

    PubMed

    Rakotoarison, Richard Aurélien; Rakotoarivony, Andrianony Emmanuel; Rabesandratana, Norotiana; Razafindrabe, John Bam; Andriambololona, Raoelina; Andriambololo-Nivo, Rabetrano; Feki, Ahmed

    2012-07-01

    Our aim was to find out the prevalence of oral clefts in Madagascar, to compare it with elsewhere in the world, and to give the possible cause of the particular rate in the Vakinankaratra region where Antsirabe is situated. Data were collected from birth registers from 1998 to 2007 in the 10 most important hospitals of the 6 former provinces and of Antsirabe. A total of 150,973 consecutive live births were recorded in the 6 provinces, and 175,981 including those from Antsirabe. The general birth prevalence of oral clefts was 0.48‰ (about 1/2100, n=150,973) which was made up of 0.23‰, 0.12‰, and 0.11‰ for cleft lip and palate, isolated cleft lip, and isolated cleft palate, respectively. Prevalence was greater on the Central Highlands than in the coastal regions. Higher prevalence rates were found among girls than boys (64.4% compared with 35.6%, p<0.01). Of the clefts, 65.5% were unilateral, and left-sided ones were most common (77.8%). If the results obtained in Antsirabe are also considered, birth prevalence of oral clefts was 0.92‰ (about 1/1100, n=175,981) if Antsirabe is included, and 0.41-0.50‰ in the 6 former provinces; rates of associated, or syndromic, forms, or both, were 21.9% in the 6 provinces and 26.1% in Antsirabe. Overall, the prevalence of oral clefts in Madagascar does not differ from that in the rest of the world, except for the sex difference. There was a high prevalence of oral clefts in general and associated or syndromic forms, or both, in the Vakinankaratra region. There may be a link between these results and background high doses of ionising radiation in some areas because of the presence of former uranium mines. Further research is needed to obtain more precise data. PMID:21764188

  17. "Three-unit" muscle reconstruction in secondary cleft lip repair.

    PubMed

    Fan, Qi; Li, Yu; Danning, Zheng; Zhang, Bo; Chen, Siqi; Wang, Jian

    2015-01-01

    Background :  Secondary deformities are common in people born with unilateral cleft lip and palate. In recent years, more and more attempts and efforts have been directed toward muscle reconstruction. The authors present a new method of orbicularis oris repair in correction of secondary cleft lip deformities. Methods :  From April 2009 to April 2013, a total of 28 patients underwent this procedure in the authors' department and had a follow-up with a minimum length of 1 year. Muscle reconstruction was divided into three units that deal with the nasal floor, white lip, and red lip. Common anatomical pathologies including a deviated columella, blunted alar-facial groove, lack of philtral column, "free border" deficiency, and unapparent vermilion tubercle can be corrected in a single operation. Results :  The average follow-up period was 14.6 months (range, 12 to 24 months). Contractubex gel (Merz Pharma, Frankfurt, Germany) was used to treat prominent or reddish scars in 16 patients. No major complications occurred. All the patients were satisfied with their nasolabial appearance. Conclusions :  "Three-unit" muscle repair was found to be effective and practical in secondary repair. Improved aesthetic and functional results can be achieved with this comprehensive procedure. PMID:24443976

  18. 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. PMID:20832377

  19. Analysis for speech and esthetics in sixty consecutive patients with cleft lip and palate

    PubMed Central

    Shiraganvi, Mahantesh S; Kumar, N; Desai, A; Kiran, TUR; Gopalkrishnan, K

    2012-01-01

    Background A double-blind retrospective study was carried out at our oral and maxillofacial surgery department to assess speech and esthetics of primary cheiloplasty in patients operated for unilateral complete cleft lip, alveolus and palate. Materials and Methods Total sample size was 60. All were operated for unilateral complete cleft lip, alveolus and palate. Age range was between 1 and 21 years. Results of surgeries performed by two surgeons were assessed. The speech of all these patients was judged by a single speech therapist who was unaware of the operating surgeon. All patients were assessed for articulatory errors, namely, omission, distortion, substitution, addition and intelligibility. Sixty-eight words in local language (Kannada) were selected by the speech pathologist. All patients were subdivided into three age groups: ≤5 years, 6-10 years and ≥11 years. The cheiloplasty was assessed using VLS (V: vermilion, L: lip, S: scar) scale for vermilion, lip and scar patterns. Results and Conclusion Patients undergoing palatoplasty in ≤1 year showed good articulation between the age of 5 and 10 years. Articulation and intelligibility was maximum in patients ≥11 years. Patients at this age try various compensatory mechanisms to overcome communication disabilities. Based on the VLS scale, scarring was the least in all patients. Vermilion and lip patterns showed satisfactory results in most of the patients. PMID:25756010

  20. 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…

  1. Cleft Lip and Palate Associated with Other Malformations in a Neotropical Primate (Saimiri ustus)

    PubMed Central

    Goldschmidt, Beatriz; Lopes, Claudia AA; Moura, Marina; Nogueira, Denise M; Gonçalves, Miguel AB; Fasano, Daniele M; Andrade, Marcia CR; Nascimento, Laine WF; Marinho, Antonio M

    2010-01-01

    Cleft lip (with or without cleft palate) has been documented in several species of nonhuman primates, which in general are susceptible at similar doses and stages of gestation to the same teratogens as humans. Cleft lip can be unilateral or bilateral, isolated, syndromic, familial, or genetic. Here we report the first case of syndromic cleft lip and palate in a male bare-eared squirrel monkey (Saimiri ustus). Associated with the orofacial clefts, the monkey manifested absence of bones, malformation of vertebrae L3, only 4 fingers in each hand, and shortening of tendons leading to inflection of the hands and fingers. Previous reports describing cleft lip and palate in other squirrel monkeys (Saimiri sciureus) in other breeding units have suggested consanguineous mating as a possible cause. Although the etiology in the case we present is unknown, we discuss factors associated with orofacial clefts in humans and various nonhuman primates. PMID:20587169

  2. Two rare cases of simultaneous Tessier number 3 cleft, contralateral cleft lip, and signs of amniotic band syndrome.

    PubMed

    Xu, Yi; Mu, Yue; Chen, Renji; Zheng, Zongmei; Zhang, Wenjing

    2016-06-01

    The Tessier number 3 cleft is rare. In this paper, we report two extremely rare cases of simultaneous Tessier number 3 cleft, contralateral cleft lip, and signs of amniotic band syndrome. In the two cases, we confirmed that amniotic bands were the probable cause of the Tessier number 3 cleft, where swallowed fibrous strands of amniotic bands entangle a typical cleft lip and cause the more severe Tessier number 3 cleft. In this study, Z-plasty was performed for one case, and a straight-line method was used for the other. Postoperatively, the appearance of both patients was satisfactory, as expected. Consequently, treatment for the Tessier number 3 cleft should be designed individually based on the severity of deformity. PMID:27052637

  3. A Reliable Method to Measure Lip Height Using Photogrammetry in Unilateral Cleft Lip Patients.

    PubMed

    van der Zeeuw, Frederique; Murabit, Amera; Volcano, Johnny; Torensma, Bart; Patel, Brijesh; Hay, Norman; Thorburn, Guy; Morris, Paul; Sommerlad, Brian; Gnarra, Maria; van der Horst, Chantal; Kangesu, Loshan

    2015-09-01

    There is still no reliable tool to determine the outcome of the repaired unilateral cleft lip (UCL). The aim of this study was therefore to develop an accurate, reliable tool to measure vertical lip height from photographs. The authors measured the vertical height of the cutaneous and vermilion parts of the lip in 72 anterior-posterior view photographs of 17 patients with repairs to a UCL. Points on the lip's white roll and vermillion were marked on both the cleft and the noncleft sides on each image. Two new concepts were tested. First, photographs were standardized using the horizontal (medial to lateral) eye fissure width (EFW) for calibration. Second, the authors tested the interpupillary line (IPL) and the alar base line (ABL) for their reliability as horizontal lines of reference. Measurements were taken by 2 independent researchers, at 2 different time points each. Overall 2304 data points were obtained and analyzed. Results showed that the method was very effective in measuring the height of the lip on the cleft side with the noncleft side. When using the IPL, inter- and intra-rater reliability was 0.99 to 1.0, with the ABL it varied from 0.91 to 0.99 with one exception at 0.84. The IPL was easier to define because in some subjects the overhanging nasal tip obscured the alar base and gave more consistent measurements possibly because the reconstructed alar base was sometimes indistinct. However, measurements from the IPL can only give the percentage difference between the left and right sides of the lip, whereas those from the ABL can also give exact measurements. Patient examples were given that show how the measurements correlate with clinical assessment. The authors propose this method of photogrammetry with the innovative use of the IPL as a reliable horizontal plane and use of the EFW for calibration as a useful and reliable tool to assess the outcome of UCL repair. PMID:26147027

  4. Preoperative non-surgical over-correction of cleft lip nasal deformity.

    PubMed

    Matsuo, K; Hirose, T

    1991-01-01

    Alar cartilage, which is elastic like auricular cartilage, is correctable in the early neonatal period. Taking advantage of this correctability, we have performed preoperative non-surgical over-correction for cleft lip nasal deformity of incomplete and complete cleft lips with a Simonart's band. The device for this correction was made by processing a nostril retainer into a nostril over-corrector which utilises a spring of silicone rubber, works like a tissue expander and is supported by the nostril floor. Twenty cases are reviewed whose follow-up lasted more than 19 months. The earlier the non-surgical over-correction began, the more satisfactory were the results that were obtained. PMID:1993238

  5. Epidemiologic Research on Malformations Associated with Cleft Lip and Cleft Palate in Japan

    PubMed Central

    Koga, Hiroshi; Iida, Koichi; Maeda, Tomoki; Takahashi, Mizuho; Fukushima, Naoki; Goshi, Terufumi

    2016-01-01

    To investigate malformations associated with cleft lip and cleft palate, we conducted surveys at neonatal intensive care units (NICUs) and other non-NICU facilities and to determine whether there are differences among facilities. The regional survey investigated NICU facilities located in Oita Prefecture, including 92 patients with cleft lip and palate (CLP) or cleft palate (CP) that occurred between 2004 and 2013, and the national survey investigated oral surgery, plastic surgery, and obstetrics and gynecology facilities located in Japan, including 16,452 patients with cleft lip (CL), CLP, or CP that occurred since 2000. The incidence per 10,000 births was 4.2, 6.2, and 2.8 for CL, CLP, and CP, respectively, according to the national survey, and 6.3 and 2.9 for CLP and CP, respectively according to the regional survey. These results indicated comparable incidences between the two surveys. In contrast, when the survey results on malformations associated with CLP and CP according to the ICD-10 classification were compared between the national survey conducted at oral surgery or plastic surgery facilities and the regional survey conducted at NICU facilities, the occurrence of associated malformations was 19.8% vs. 41.3% for any types of associated malformation, 6.8% vs. 21.7% for congenital heart disease, and 0.5% vs. 16.3% for chromosomal abnormalities. These results indicated that the incidences of all of these associated malformations were significantly greater in the survey conducted at NICU facilities and similar to the findings from international epidemiological surveys. When comparing the survey conducted at obstetrics facilities vs. NICU facilities, the occurrence of associated malformations was similar results as above. The incidence of CLP and CP was not different between surveys conducted at NICU facilities vs. non-NICU facilities; however, when conducting surveys on associated malformations, it is possible to obtain accurate epidemiological data by

  6. 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

  7. 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

  8. 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…

  9. 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…

  10. [Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity].

    PubMed

    Meza Escobar, Luis Enrique; Isaza, Carolina; Pachajoa, Harry

    2012-10-01

    The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. The patient has a positive familiar history for cleft lift and palate and mortality during the perinatal period. The management of each case must be specific and multidisciplinary. PMID:23070194

  11. Rescue of lip switch flap at risk of necrosis due to venous congestion for cleft lip deformity.

    PubMed

    Sugiyama, Madoka; Saijo, Hideto; Kazuto, Hoshi; Takato, Tsuyoshi

    2016-01-01

    In a 21-year-old male with bilateral cleft lip who developed marked venous congestion of a lip switch flap, we returned the grafted flap to the donor site to improve blood circulation of the flap and then re-transplanted it, which prevented flap necrosis. Here, we report the procedure and case. PMID:27583269

  12. Rescue of lip switch flap at risk of necrosis due to venous congestion for cleft lip deformity

    PubMed Central

    Sugiyama, Madoka; Saijo, Hideto; Kazuto, Hoshi; Takato, Tsuyoshi

    2016-01-01

    Abstract In a 21-year-old male with bilateral cleft lip who developed marked venous congestion of a lip switch flap, we returned the grafted flap to the donor site to improve blood circulation of the flap and then re-transplanted it, which prevented flap necrosis. Here, we report the procedure and case. PMID:27583269

  13. Three-Dimensional Upper Lip and Nostril Sill Changes After Cleft Alveolus Reconstruction Using Autologous Bone Grafting Versus Recombinant Human Bone Morphogenetic Protein-2.

    PubMed

    Raposo-Amaral, Cassio Eduardo; Denadai, Rafael; Alonso, Nivaldo

    2016-06-01

    Cleft alveolus in patients with unilateral complete cleft lip and palate has been alternatively reconstructed with recombinant human bone morphogenetic protein (rhBMP)-2. However, its effects on upper lip and nostril sill anatomy are not known. Thus, the objective of this investigation was to assess and compare upper lip and nostril sill changes after cleft alveolus reconstruction with autologous bone from the iliac crest region and rhBMP-2. Patients were randomly allocated into 2 groups. In group 1, autologous bone from the iliac crest region was used to fill the cleft alveolus (n = 4), and in group 2, rhBMP-2 was used to fill the cleft alveolus (n = 8). Preoperatively and at one after the surgery, computerized tomography (CT) was performed. Reformatted CT imaging was used to perform cephalometric linear measurements of the upper lip and nostril sill regions. Inter- and intragroup data of the pre and postoperative reformatted CT measurements of the upper lip and nostril sill regions did not show differences (P >0.05) in cutaneous upper lip height and projection, nostril sill elevation, and subnasale projection. There were no significant upper lip and nostril sill anatomical changes after cleft alveolus reconstruction using autologous bone grafting and rhBMP-2. PMID:27244210

  14. Nonsyndromic cleft lip with or without cleft palate: New BCL3 information

    SciTech Connect

    Amos, C.; Hecht, J.T.; Gasser, D.

    1996-09-01

    We did not previously provide LOD scores for linkage assuming heterogeneity, as suggested by Ott for the linkage analysis of cleft lip with or without cleft palate (CL/P) and BCL3, ApoC2, and D19S178 in the paper by Stein et al. The results from analysis using the HOMOG program, allowing for heterogeneity under the reduced penetrance model, gave a maximum LOD score of 1.85 for ApoC2, 0.41 for BCL3, 0.03 for D19S178, and 1.72 for multipoint analysis in the interval. For the affecteds-only model, the values are 1.96 for ApoC2, 0.41 for BCL3, 0.01 for D19S178, and 1.44 for the multipoint analysis. 8 refs.

  15. Malonylcarnitine in Newborns with Non-syndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Hozyasz, Kamil Konrad; Oltarzewski, Mariusz; Dudkiewicz, Zofia

    2010-01-01

    Aim Malonyl-CoA is regarded as a key signaling molecule in mammalian cells. It is converted to acetyl-CoA, and to a lesser extent, to malonyl acid and malonylcarnitine (C3DC). Availability of carnitine has been reported to be essential for the developing fetus. The objectives of the present study were to analyze associations of malonylcarnitine, acetylcarnitine (C2), and free carnitine (C0) in subjects with orofacial clefts. Methodology We performed a retrospective analysis of carnitine concentration obtained from a newborn screening program carried out in our institution. Concentrations of whole blood malonylcarnitine, acetylcarnitine, and free carnitine were measured using tandem mass spectrometry. The study group consisted of 51 children with non-syndromic cleft lip with or without cleft palate. In total, 106 healthy children without congenital anomalies served as controls. Cut-off points were established using likelihood ratio values. Results The mean concentration of malonylcarnitine in the cleft group was lower than that of the control group, 0.048 μmol·L−1 vs. 0.058 μmol·L−1, respectively (P=0.009). In patients with orofacial cleft, low malonylcarnitine levels (≤0.047 μmol·L−1) were 1.7 times more predominant than in healthy individuals (P=0.03). The mean concentration of acetylcarnitine was also lower in affected newborns in comparison to controls, 33.8 μmol·L−1 vs. 37.8 μmol·L−1, respectively (P=0.026). After analysis of acetylcarnitine and free carnitine concentrations, the likelihood ratio test did not indicate valuable cut-off points. Conclusion The study provides initial data indicating a potential association between decreased malonylcarnitine and abnormal palatogenesis. PMID:21125791

  16. Optimization of dental status improves long-term outcome after alveolar bone grafting in unilateral cleft lip and palate.

    PubMed

    Jabbari, Fatima; Skoog, Valdemar; Reiser, Eicka; Hakelius, Malin; Nowinski, Daniel

    2015-03-01

    Objective : To evaluate the importance of dental status for long-term outcome after alveolar bone grafting in patients with unilateral cleft lip and palate. Design : Retrospective longitudinal study. Setting : Cleft lip and palate-craniofacial center, Uppsala University Hospital, Sweden. Patients : A total of 67 consecutive patients with unilateral complete cleft lip and palate. Interventions : Secondary alveolar bone grafting, prior to the eruption of the permanent canine, was performed at the average age of 10.0 years (range, 8.5 to 12.0 years). Main Outcome Measures : Alveolar bone height was evaluated with the modified Bergland index at 1 and 10 years after surgery. Results : Of the patients, 97% had modified Bergland index grade I and the remaining 3% had modified Bergland index grade II at 1 year after surgery. At 10 years' follow-up, 43% showed modified Bergland index grade I; 55%, modified Bergland index grade II; and 2% (one patient), modified Bergland index grade III. The degree of dental anomalies in the cleft area, such as enamel hypoplasia, incisor rotation, incisor inclination, canine inclination, and oral hygiene registered preoperatively, all correlated negatively to the modified Bergland index at 10 years after surgery. Enamel hypoplasia (ρ = 0.70195, P < .0001), followed by canine inclination (ρ = 0.55429, P < .0001), showed the strongest correlation to reduced bone height in the cleft area. Conclusions : In patients with unilateral cleft lip and palate, excellent results from secondary alveolar bone grafting in terms of bone height in the alveolar cleft tend to decrease with time. This seems to be correlated with factors that might to some extent be treated preoperatively through adequate planning and execution of the orthodontic treatment. PMID:24568558

  17. 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

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

    PubMed

    Goswami, Mridula; Jangra, Babita; Bhushan, Urvashi

    2016-01-01

    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

  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. 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. PMID:26742377

  1. 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)

  2. 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…

  3. White Roll Vermilion turn down flap in primary unilateral cleft lip repair: A novel approach

    PubMed Central

    Mishra, R. K.; Agarwal, Amit

    2015-01-01

    Aim: Numerous modifications of Millard's technique of rotation – advancement repair have been described in literature. This article envisions a new modification in Millard's technique of primary unilateral chieloplasty. Material and Methods: Eliminating or reducing the secondary deformities in children with cleft lip has been a motivating factor for the continual refinement of cleft lip surgical techniques through the years. Vermilion notching, visibility of paramedian scars and scar contracture along the white roll are quite noticeable in close-up view even in good repairs. Any scar is less noticeable if it is in midline or along the lines of embryological closure. White Roll Vermilion turn down Flap (WRV Flap), a modification in the Millard's repair is an attempt to prevent these secondary deformities during the primary cleft lip sugery. This entails the use of white roll and the vermilion from the lateral lip segment for augmenting the medial lip vermilion with the final scar in midline at the vermilion. Result: With an experience of more than 100 cases of primary cleft lip repair with this technique, we have achieved a good symmetry and peaking of cupid's bow with no vermilion notching of the lips. Conclusion: WRV flap aims to high light the importance of achieving a near normal look of the cleft patient with the only drawback of associated learning curve with this technique. PMID:26424983

  4. 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

  5. Prevalence of Associated Anomalies in Cleft Lip and/or Palate Patients

    PubMed Central

    Abdollahi Fakhim, Shahin; Shahidi, Nikzad; Lotfi, Alireza

    2016-01-01

    Introduction: Orofacial clefts are among the most common congenital anomalies. Patients presenting with orofacial clefts often require surgery or other complex procedures. A cleft lip or palate can be a single anomaly or a part of multiple congenital anomalies. The reported prevalence of cleft disease and associated anomalies varies widely across the literature, and is dependent on the diagnostic procedure used. In this study we determined the prevalence of associated anomalies in patients with a cleft lip and/or palate, with a specific focus on cardiac anomalies. Materials and Methods: In this cross-sectional study, 526 patients with a cleft lip and /or palate admitted to the children’s referral hospital between 2006 and 2011 were evaluated. All associated anomalies were detected and recorded. Patient information collected included age, gender, type and side of cleft, craniofacial anomalies and presence of other anomalies, including cardiac anomalies. Data were analyzed using SPSS version 16. Results: Of the 526 patients enrolled in the study, 58% (305) were male and 42% (221) were female. In total, 75% of patients (396) were aged between 4 and 8 years and 25% (130) were aged less than 4 years. The most common cleft type in our study was bilateral cleft palate. The most commonly associated anomaly among cleft patients, in 12% of cleft patients, was a cardiac anomaly. The most common cardiac anomaly was atrial septal defect (ASD). Conclusion: The prevalence of associated anomalies among orofacial cleft patients is high. The most common associated anomaly is cardiac anomaly, with ASD being the most common cardiac anomaly. There are no significant relationships between type of cleft and associated cardiac anomalies. PMID:27280100

  6. GFA Taq I polymorphism and cleft lip with or without cleft palate (CL/P) risk

    PubMed Central

    Dong, Lijia; Ma, Lian

    2015-01-01

    The transforming growth factor alpha (TGFA) Taq I polymorphism has been indicated to be correlated with cleft lip with or without cleft palate (CL/P) susceptibility, but study results are still debatable. Thus, a meta-analysis was conducted. We conducted a comprehensive search of Embase, Ovid, Web of Science, the Cochrane database, PubMed, the Chinese Biomedical Literature Database (CBM-disc, 1979-2014), the database of National Knowledge Infrastructure (CNKI, 1979-2014) and the full paper database of Chinese Science and Technology of Chongqing (VIP, 1989-2014) to identify suitable studies. There were 18 studies suitable for this meta-analysis, involving a total of 3135 cases and 3575 controls. Significantly increased CL/P risk was observed (OR = 1.49; 95% CI 1.17-1.89; P = 0.001). In subgroup analyses stratified by ethnicity, there was evidence in the Caucasian population for an association between this polymorphism and CL/P risk (OR = 1.52; 95% CI 1.14-2.02; P = 0.004). However, no significant association was found between this his polymorphism and CL/P risk in African and Hispanic populations. According to a specific CL/P type, increased clip lip and palate risk and clip palate risk were found (OR = 1.38; 95% CI 1.10-1.73; P = 0.005; OR = 1.29; 95% CI 1.01-1.66; P = 0.042). In conclusion, the present meta-analysis found that the TGFA Taq I polymorphism may be associated with CL/P susceptibility. PMID:26064247

  7. Median cleft of the upper lip: A new classification to guide treatment decisions.

    PubMed

    de Boutray, Marie; Beziat, Jean-Luc; Yachouh, Jacques; Bigorre, Michèle; Gleizal, Arnaud; Captier, Guillaume

    2016-06-01

    Median cleft of the upper lip (MCL) is a specific and rare entity on the spectrum of facial clefts. MCL have different clinical expressions and can be either isolated or part of multiple malformations. Confusion still exists regarding the explanation and classification of MCL; some cases have been reported in the literature, but no studies carried out a complete review of the literature. This study reviewed cases of MCL in 2 French units and conducted a systematic review of the literature, in order to derive a new classification. Fourteen patients with MCL in the 2 units and 195 cases in the literature were reviewed. They involved complete (42%), incomplete (49%), and minor forms (9%). Epidemiological and clinical data were collected, from which a classification was derived, based on the type of cleft and its belonging to other syndrome(s). Three main groups were distinguished, namely, isolated MCL, MCL within craniofacial malformations, and MCL with extrafacial malformations. Each group and subgroup was associated with a prognosis and led to specific management. This study reviewed all of the various forms of MCL and their associated anomalies, in order to have a global view of MCL and to derive a useful classification scheme to guide management of care. PMID:27075944

  8. Cleft lip with or without cleft palate in Shanghai, China: Evidence for an autosomal major locus

    SciTech Connect

    Marazita, M.L. ); Hu, Dan-Ning; Liu, You-E. ); Spence, A. ); Melnick, M. )

    1992-09-01

    Orientals are at higher risk for cleft lip with our without cleft palate (CL[+-] P) than Caucasians or blacks. The authors collected demographic and family data to study factors contributing to the etiology of CL[+-]P in Shanghai. The birth incidence of nonsyndromic CL[+-]P (SHanghai 1980-87) was 1.11/1,000, with a male/female ratio of 1.42. Almost 2,000 nonsyndromic CL[+-]P probands were ascertained from individuals operated on during the years 1956-83 at surgical hospitals in Shanghai. Detailed family histories and medical examinations were obtained for the probands and all available family members. Genetic analysis of the probands' families were performed under the mixed model with major locus (ML) and multifactorial (MFT) components. The hypothesis of no familial transmission and of MFT alone could be rejected. Of the ML models, the autosomal recessive was significantly most likely and was assumed for testing three complex hypothesis: (1) ML and sporadics; (2) ML and MFT; (3) ML, MFT, and sporadics. None of the complex models were more likely than the ML alone model. In conclusion, the best-fitting, most parsimonious model for CL[+-]P in Shanghai was that of an autosomal recessive major locus. 37 refs., 1 tab.

  9. Craniofacial pattern of parents of children having cleft lip and/or cleft palate anomaly.

    PubMed

    Raghavan, R; Sidhu, S S; Kharbanda, O P

    1994-01-01

    The craniofacial patterns of 38 sets of parents who had children with cleft lip and/or cleft palate anomalies (experimental group) were compared with the 24 sets of parents of healthy (noncleft) children (control group). Using a computerized program, 248 cephalograms (124 lateral and 124 frontal) were digitized and analyzed. The parents in the experimental group exhibited a distinct craniofacial morphology, including a significant decrease in upper anterior facial height (N-Ans) and total anterior face height (V-Gn). Anterior nasal spine (Ans) and maxillary alveolar process (A) were positioned more anteriorly and superiorly in the experimental group, which contributed to a significant increase in the length of the palate (Ans-Pns) and an anterosuperior rotation of the palatal plane. The cranial base angle in the experimental group was significantly obtuse and the articular angle was smaller than that of the controls. The counterclockwise rotation of the mandible was mitigated by a significant increase in the gonial angle. Parents in the experimental group also tended to have faces which were smaller in both transverse and vertical dimensions. PMID:8010522

  10. 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

  11. Clinical Outcomes of Primary Palatal Surgery in Children with Nonsyndromic Cleft Palate with and without Lip

    PubMed Central

    Ha, Seunghee; Koh, Kyung S.; Moon, Heewon; Jung, Seungeun; Oh, Tae Suk

    2015-01-01

    This study presents clinical outcomes of primary cleft palate surgery, including rate of oronasal fistula development, rate of velopharyngeal insufficiency (VPI) requiring secondary surgery, and speech outcomes. We examined the effect of cleft type on the clinical outcomes. Retrospective analysis was performed using clinical records of all patients who received a primary palatoplasty at the Cleft Palate Clinic at Seoul Asan Medical Center, South Korea, between 2007 and 2012. The study included 292 patients with nonsyndromic overt cleft palate (±cleft lip). The results revealed that the rate of oronasal fistula was 7.9% and the incidence of VPI based on the rate of secondary palatal surgery was 19.2%. The results showed that 50.3% of all the patients had received speech therapy and 28.8% and 51.4% demonstrated significant hypernasality and articulatory deficits, respectively. The results of the rate of VPI and speech outcomes were significantly different in terms of cleft type. Except for the rate of oronasal fistula, patients with cleft palate generally exhibited better clinical outcomes compared to those with bilateral or unilateral cleft lip and palate. This study suggests that several factors, including cleft type, should be identified and comprehensively considered to establish an optimal treatment regimen for patients with cleft palate. PMID:26273593

  12. A protocol for safe anasthesia for cleft lip and palate surgery in developing countries.

    PubMed

    Hodges, S C; Hodges, A M

    2000-05-01

    A project to perform surgical correction of cleft lips and palates was carried out in Uganda in 1998. Twenty centres were visited and 336 cleft lips and 41 cleft palates were repaired. The age of the patients ranged from 2 weeks to 60 years. Many of the centres visited were remote and lacked even the most basic equipment. Patients were anasthetised using ketamine, ether or halothane according to a protocol that we developed. There was no anasthetic mortality and only one case of significant morbidity. We report our experience and discuss recommendations regarding the provision of anasthesia in remote circumstances based on our outcome. An additional benefit of the project was that we provided training to local medical personnel in anasthesia and surgery for cleft lips and palates. PMID:10792134

  13. Postoperative analgesia for cleft lip and palate repair in children

    PubMed Central

    Reena; Bandyopadhyay, Kasturi Hussain; Paul, Abhijit

    2016-01-01

    Acute pain such as postoperative pain during infancy was ignored approximately three decades ago due to biases and misconceptions regarding the maturity of the infant's developing nervous system, their inability to verbally report pain, and their perceived inability to remember pain. More recently, these misconceptions are rarely acknowledged due to enhanced understanding of the developmental neurobiology of infant pain pathways and supraspinal processing. Cleft lip and palate is one of the most common congenital abnormalities requiring surgical treatment in children and is associated with intense postoperative pain. The pain management gets further complicated due to association with postsurgical difficult airway and other congenital anomalies. Orofacial blocks like infraorbital, external nasal, greater/lesser palatine, and nasopalatine nerve blocks have been successively used either alone or in combinations to reduce the postoperative pain. Since in pediatric population, regional anesthesia is essentially performed under general anesthesia, association of these two techniques has dramatically cut down the risks of both procedures particularly those associated with the use of opioids and nonsteroidal anti-inflammatory drugs. Definitive guidelines for postoperative pain management in these patients have not yet been developed. Incorporation of multimodal approach as an institutional protocol can help minimize the confusion around this topic. PMID:27006533

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

    PubMed Central

    van der Plas, Ellen; Koscik, Timothy R; Conrad, Amy L; Moser, David; 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, both in terms of explicit responses and non-controlled, psychophysiological responses. Twenty males with ICLP and 20 normal comparison males (NC group) 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 relative to healthy male peers, which was evident in explicit responses, and non-controlled, 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. PMID:23634967

  15. 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. PMID:23634967

  16. 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…

  17. 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 ...

  18. CLEFT LIP, ALVEOLUS AND PALATE IN AFRICAN NATIVES: AN UPDATE ON DEMOGRAPHICS AND MANAGEMENT OUTCOME

    PubMed Central

    Akintububo, O.B.; Ojo, E.O.; Kokong, DD; Adamu, S.A.; Nnadozie, U.U; Yunusa-Kaltungo, Z; Jalo, I; Dauda, A.M

    2015-01-01

    Background Development of craniofacial structures is a complex process and disruption of any of the numerous steps can lead to development of oro-facial clefts. This is a surgically amenable anomaly as from early life that has had conflicting pattern of demographics reported by various researchers globally. There are several factors that are critical to the surgical outcome. Objective Study the demographics and the management outcome of cleft lip, alveolus and palate and highlight factors responsible for improved care in recent time. Design Descriptive cohort study. Setting Tertiary health institution Method All consecutive patients managed for cleft lip, alveolus and palate (CLAP) over 7years and 10months were studied. Outcome Cleft lip, alveolus and palate repair was performed on 149 patients, January 1, 2001– December 31, 2008 with an incidence of 2.1/1000 live births. From this, 27 patients, averaging 4.5 patients per year were operated for the first 6 1/3 years while the remaining 122(81.9%) the next 1 1/2 years, averaging 81.6 patients yearly. Their ages ranged from 3 months – 60 years with 77 (51.7%) males and 72 (48.3.0%) females. Cleft lip was the main presentation in 108(72.5%) of which 72(66.7%) were left sided. Bilateral cleft lip were14 (9.4%). Five (3.4%) patients had associated anomalies out of which 3(60.0%) had CLAP while 2(40.0%) isolated cleft lip or palate. The technique for cleft lip repair was Millard’s and Noordhoof’s while palatal cleft was the two-flap palatoplasty with intravelar veloplasty. Success was recorded in 142(95.3%) with complication observed in 7(4.7%) patients. Conclusion The rarity of cleft lip, alveolus and/or palate in the African native documented previously may no longer be tenable as observe in this study. Management outcome has improved owing to the collaboration with SmileTrain, USA, along with multidisciplinary approach. PMID:26709327

  19. Esthetic, Functional, and Everyday Life Assessment of Individuals with Cleft Lip and/or Palate

    PubMed Central

    Papamanou, Despina A.; Karamolegkou, Marina; Dorotheou, Domna

    2015-01-01

    Objectives. To evaluate the level of satisfaction of individuals with cleft lip and/or palate (CLP) and their parents concerning the esthetic and functional treatment outcomes, the impact of the cleft on everyday life, and potential associations with treatment outcome satisfaction. Subjects and Methods. The sample consisted of 33 patients (7 CP, 20 unilateral CLP, and 6 bilateral CLP; median age: 17.1, range: 9.0–33.1 years) and 30 parents, who responded to a questionnaire in an interview-guided session. All participants received their orthodontic treatment at the Department of Orthodontics in the University of Athens. Results. Patients and their parents were quite satisfied with esthetics and function. Patients with UCLP primarily were concerned about nose esthetics (BCLP about lip esthetics and CP about speech). Increased satisfaction was associated with decreased influence of the cleft in everyday life (0.35 < rho < 0.64, P < 0.05). Parents reported significant influence of the cleft on family life, while patients did not. Conclusions. Despite the limited sample size of subgroups, the main concerns of patients with different cleft types and the importance of satisfying lip, nose, and speech outcomes for an undisturbed everyday life were quite evident. Thus, the need for targeted treatment strategies is highlighted for individuals with cleft lip and/or palate. PMID:26064918

  20. A comprehensive review of the genetic basis of cleft lip and palate

    PubMed Central

    Kohli, Sarvraj Singh; Kohli, Virinder Singh

    2012-01-01

    Cleft lip and palate (CLP) are birth defects that affect the upper lip and the roof of the mouth. CLP has a multifactorial etiology, comprising both genetic and environmental factors. In this review we discuss the recent data on the etiology of cleft lip and palate. We conducted a search of the MEDLINE database (Entrez PubMed) from January 1986 to December 2010 using the key words: ‘cleft lip,’ ‘cleft palate,’ ‘etiology,’ and ‘genetics.’ The etiology of CLP seems complex, with genetics playing a major role. Several genes causing syndromic CLP have been discovered. Three of them—T-box transcription factor-22 (TBX22), poliovirus receptor-like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)—are responsible for causing X-linked cleft palate, cleft lip/palate–ectodermal dysplasia syndrome, and Van der Woude and popliteal pterygium syndromes, respectively; they are also implicated in nonsyndromic CLP. The nature and functions of these genes vary widely, illustrating the high vulnerability within the craniofacial developmental pathways. The etiological complexity of nonsyndromic cleft lip and palate is also exemplified by the large number of candidate genes and loci. To conclude, although the etiology of nonsyndromic CLP is still largely unknown, mutations in candidate genes have been identified in a small proportion of cases. Determining the relative risk of CLP on the basis of genetic background and environmental influence (including smoking, alcohol use, and dietary factors) will be useful for genetic counseling and the development of future preventive measures. PMID:22438645

  1. Communication disorders in individuals with cleft lip and palate: An overview

    PubMed Central

    Nagarajan, Roopa; Savitha, V. H.; Subramaniyan, B.

    2009-01-01

    The need for an interdisciplinary approach in the comprehensive management of individuals with cleft lip and palate is well recognized. This article provides an introduction to communication disorders in individuals with cleft lip and palate for members of cleft care teams. The speech pathologist is involved in identifying those infants who are at risk for communication disorders and also for initiating early intervention to prevent or mitigate communication disorders caused by the cleft. Even with early cleft repair, some children exhibit ‘cleft palate speech’ characterized by atypical consonant productions, abnormal nasal resonance, abnormal nasal airflow, altered laryngeal voice quality, and nasal or facial grimaces. These manifestations are evaluated to identify those that (a) are developmental, (b) can be corrected through speech therapy alone, and, (c) those that may require both surgery and speech therapy. Speech is evaluated perceptually using several types of stimuli. It is important to identify compensatory and obligatory errors in articulation. When velopharyngeal dysfunction is suspected, the assessment should include at least one direct measure such as nasoendoscopy or videofluoroscopy. This provides information about the adequacy of the velopharyngeal valve for speech production, and is useful for planning further management of velopharyngeal dysfunction. The basic principle of speech therapy in cleft lip and palate is to establish the correct placement of the articulators and appropriate air flow. Appropriate feedback is important during therapy for establishing the correct patterns of speech. PMID:19884669

  2. 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

  3. [Prevention of cleft lip and palate. Reducing risk of recurrence--a 25-year clinical experience].

    PubMed

    Schubert, Johannes; Krost, Birgit

    2006-09-01

    From 1980 to 2005, 71 female patients having non-syndromic cleft lip and palate (CLP) or cleft palate (CP) themselves or in their family and desiring to have children underwent 88 times a cleft prevention protocol with high doses of Vitamin B Complex and Actovegin twice a week. The data about the outcome of the pregnancy were prospectively collected. Empiric data of the recurrence risks from the literature depending on the cleft type were used as comparative group. In 80 cases, a healthy child was born. In two cases microsymptoms of unilateral lip notches were observed. The observed risks with prophylaxis were 2.9% (only microsymptoms!) and 0% comparing with 4.9% and 2.4% respectively in the controls. The relative risk as reference value between expected and observed risk was 0.6 (microsymptoms) for CLP and 0 for CP. PMID:16944083

  4. Maternal stress, superstition and communicative behaviour with Nigerian cleft lip and palate children.

    PubMed

    Nwanze, H O; Sowemimo, G O

    1987-01-01

    This study examines, through video recordings and interviews, superstitions held by families of children with cleft lip and palates (CLP) and the mothers' communicative relationship with them. 10 CLP children, 10 non-cleft (NC) children and their mothers, were the subjects. Evil spirits were cited as the dominant cause of the cleft. Husbands or the extended family blamed the mother for the defect in 70% of the homes. Negative family support was evident in 6 of the families. Mothers of CLP children were indulgent with them, but afforded them less autonomy than did mothers of NC children. There was also more linguistic sensitivity between mother and CLP child than within the control group, perhaps facilitating language development in the CLP children. Mothers were, however, withdrawn in relation to children with unrepaired cleft lips. Family education and counselling were recommended. PMID:3589574

  5. Morphofunctional changes of orofacial muscles in patients with unilateral or bilateral cleft lip, alveolus and palate.

    PubMed

    Proff, Peter; Weingärtner, Jens; Koppe, Thomas; Fanghänel, Jochen; Mack, Florian; Gedrange, Tomas

    2007-01-01

    The facial musculature is part of a biocybernetic feedback system within the stomatognathic system, the continuity of which is disturbed by clefts of the lip, jaw, and palate (cheilognathopalatoschisis). This results in topographic, fine-structural and functional alterations of the facial musculature. In two heads with unilateral clefts and two heads with bilateral clefts, the facial musculature was dissected and the M. orbicularis oris macroscopically and topographically examined. We found changes in the attachment of the M. orbicularis oris. The modiolus, which is coresponsible for the proper topographic relation of the M. obicularis oris to the other facial muscles, was unchanged. Further, we examined the vascular system of the muscle, which likewise adapts to the altered situation. Lip/jaw/palatal clefts result in anatomically functional and fine-structural alterations of the M. orbicularis oris, while the rest of the facial musculature remains unchanged. PMID:17419554

  6. 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.

  7. Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6

    SciTech Connect

    Blanton, S.H.; Malcolm, S.; Winter, R.

    1996-01-01

    Nonsyndromic cleft lip with or without associate cleft palate (CLP) is a common craniofacial defect, occurring in {approximately}1/1,000 live births. While the defect generally occurs sporadically, multiplex families have been reported. Segregation analyses have demonstrated that, in some families, CLP is inherited as an autosomal dominant/codominant disorder with low penetrance. Several clefting loci have been proposed on multiple chromosomes, including 6p24, 4q, and 19q13.1. Association studies and linkage studies suggested a locus that mapped to 6p24. We were unable to confirm this in a linkage study of 12 multigenerational families. A subsequent linkage study by Carinci et al., however, found evidence for linkage to this region in 14 of 21 clefting families. Additionally, Davies et al. studied the chromosomes of three individuals with cleft lip and palate, all of whom had a rearrangement involving 6p24. Their investigation supported a locus at 6p24. Carinci et al. reported that the most likely position for a clefting locus was at D6S89, which is centromeric to EDN1. This is in contrast to the findings of Davies et al., who suggested a placement telomeric to EDN1. F13A, which had been implicated in the initial association studies, is telomeric to EDN1. Thus, the region between F13A and D6S89 encompasses the regions proposed by both Davies et al. and Carinci et al. A second clefting locus, at 4q, was proposed by Beiraghi et al., who studied a single multigenerational family by linkage analysis. Their data suggested a locus near D4S175 and D4S192. 10 refs., 1 tab.

  8. Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.

    PubMed

    Cole, Patrick; Hatef, Daniel A; Kaufman, Yoav; Magruder, Amy; Bree, Alanna; Friedman, Ellen; Sindwani, Raj; Hollier, Larry H

    2009-09-01

    Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) Syndrome is a rare disorder characterized by ectodermal dysplasia, along with other malformations such as cleft lip and palate, and various secondary issues such as chronic sinusitis, otitis media, and conductive hearing loss (CHL). The International Research Symposium for AEC Syndrome convened at Baylor College of Medicine in Houston, Texas. Patients with a suspected diagnosis of AEC syndrome attended, and members of the dental, dermatology, plastic surgery, otolaryngology, and audiology services examined each patient. Eighteen patients with a diagnosis of AEC were evaluated. Mean age was 7.5 years (range: 4 months-30 years). Fourteen of the 15 subjects tested (93.33%) demonstrated CHL, with seven showing moderate to severe hearing deficits (41-90 dB). Nine of 13 respondents reported hoarseness or voice problems; 8 were noted to display this on examination. Fourteen of 16 subjects reported speech was below average for age; 8 were in speech therapy. All 18 subjects reported a history of otitis externa or otitis media. Eleven of the subjects (61.11%) required myringotomy and pressure equalizing (PE) tubes. All patients demonstrated cleft palate defects. Of these, 16 (94.11%) presented with clefting of the soft palate, and 10 (58.82%) showed hard palate defects. Three subjects (16.67%) were noted to have submucous clefts. Our experience leads us to propose that while the oroauditory problems in those with AEC syndrome is likely multifactorial, many issues may stem from palatal clefting. Despite this, some abnormalities persist following surgical cleft closure, which indicates other complicating factors are also involved. PMID:19697430

  9. Bilateral cleft lip and palate, hypertelorism with agenesis of corpus callosum.

    PubMed

    Balaji, S M

    2016-01-01

    Agenesis of corpus callosum (ACC) can have various development abnormalities spectrum. These include delay in milestones to complex neuropsychiatric manifestations. Following case report highlights the case of a young infant presenting with associated features including bilateral cleft lip and palate and hypertelorism. The kid was refused treatment at several centers owing to the central nervous system abnormality. This case reports highlight the ACC as a comorbid diagnosis in cleft lip and palate patient with hypertelorism perhaps owing to ignorance and fear of this apparently innocuous congenital malformation. PMID:27054869

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

    PubMed

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

    2013-03-01

    Objective : Objective measure of scarring and three-dimensional (3D) facial asymmetry after surgical correction of unilateral cleft lip (UCL) and unilateral cleft lip (UCLP). It was hypothesized that the degree of scarring or asymmetry would be correlated with poorer psychological function. Design : In a cross-sectional design, children underwent 3D imaging of the face and completed standardized assessments of self-esteem, depression, and state and trait anxiety. Parents rated children's adjustment with a standard scale. Setting : Glasgow Dental School, School of Medicine, College of Medical, Veterinary and Life Sciences. Patients : Fifty-one children aged 10 years with UCLP and 43 with UCL were recruited from the cohort treated with the surgical protocol of the CLEFTSIS managed clinical network in Scotland. Methods : Objective assessment to determine the luminance and redness of the scar and facial asymmetry. Depression, anxiety, and a self-esteem assessment battery were used for the psychological analysis. Results : Cleft cases showed superior psychological adjustment when compared with normative data. Prevalence of depression matched the population norm. The visibility of the scar (luminance ratio) was significantly correlated with lower self-esteem and higher trait anxiety in UCLP children (P  =  .004). Similar but nonsignificant trends were seen in the UCL group. Parental ratings of poorer adjustment also correlated with greater luminance of the scar. Conclusions : The objectively defined degree of postoperative cleft scarring was associated with subclinical symptoms of anxiety, depression, and low self-esteem. PMID:21846256

  11. Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A

    SciTech Connect

    Hecht, J.T.; Yaping Wang; Connor, B.; Daiger, S.P. ); Blanton, S.H. Univ. of Virginia, Charlottesville )

    1993-06-01

    Nonsyndromic cleft lip with or without cleft palate (CLP) is a common craniofacial anomaly, the etiology of which is not known. Population studies have shown that a large proportion of cases occur sporadically. Recently, segregation analyses applied to CLP families have demonstrated that an autosomal dominant/codominant gene(s) may cause clefting in cases. Associations of autosomal dominant CLP and nonsyndromic cleft palate (CP) with HLA and F13A genes on chromosome 6p have been suggested previously. Linkage to these two areas on chromosome 6p were tested in 12 autosomal dominant families with CLP. With a LOD score of [minus]2 or less for exclusion, no evidence of linkage was found to four chromosome 6p markers. Multipoint analysis showed no evidence of a clefting locus in this region spanning 54 cM on chromosome 6p in these CLP families. 30 refs., 2 figs., 1 tab.

  12. 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

  13. Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing

    PubMed Central

    Liu, Ya-Peng; Xu, Li-Fang; Wang, Qi; Zhou, Xiao-Long; Zhou, Ji-Long; Pan, Chen; Zhang, Jin-Peng; Wu, Qin-Rong; Li, Yi-Qun; Xia, Yu-Juan; Peng, Xiu; Zhang, Mei-Rong; Yu, Hong-Min

    2015-01-01

    Background Non-syndromic cleft lip with or without cleft palate (NSCL/P) is among the most common congenital malformations. The etiology of NSCL/P remains poorly characterized owing to its complex genetic heterogeneity. The objective of this study was to identify genetic variants that increase susceptibility to NSCL/P. Material and Methods Whole-exome sequencing (WES) was performed in 8 fetuses with NSCL/P in China. Bioinformatics analysis was performed using commercially available software. Variants detected by WES were validated by Sanger sequencing. Results By filtering out synonymous variants in exons, we identified average 8575 nonsynonymous single nucleotide variants (SNVs). We subsequently compared the SNVs against public databases including NCBI dbSNP build 135 and 1000 Genomes Project and obtained an average of 203 SNVs. Total 12 reported candidate genes were verified by Sanger sequencing. Sanger sequencing also confirmed 16 novel SNVs shared by two or more samples. Conclusions We have found and confirmed 16 susceptibility genes responsible for NSCL/P, which may play important role in the etiology of NSCL/P. The susceptibility genes identified in this study will not only be useful in revealing the etiology of NSCL/P but also in diagnosis and treatment of the patients with NSCL/P. Key words:Non-syndromic cleft lip with or without cleft palate, whole-exome sequencing, sanger sequencing, susceptibility gene, single nucleotide variants (SNVs). PMID:26449438

  14. Parent-Reported Family Functioning Among Children With Cleft Lip/Palate

    PubMed Central

    Crerand, Canice E.; Rosenberg, Janine; Magee, Leanne; Stein, Margot B.; Wilson-Genderson, Maureen; Broder, Hillary L.

    2014-01-01

    Objective To examine family functioning related to sociodemographic and clinical characteristics in youth with cleft lip and/or palate (CL/P). Design Cross-sectional, multisite investigation. Setting Six U.S. cleft centers. Patients/Participants A diverse sample of 1200 children with CL/P and their parents. Main Outcome Measure Parents completed the Family Environment Scale (FES), which assesses three domains of family functioning: cohesion (or closeness), expressiveness (open expression of feelings), and conflict. Demographic and clinical characteristics were also assessed including race, ethnicity, type of insurance, and surgical recommendations. Results The FES scores for families seeking team evaluations for their youth with CL/P (mean age = 11.6 years) fall within the average range compared with normative samples. Families receiving surgical recommendations for their youth also had FES scores in the average range, yet families of children recommended for functional surgery reported greater cohesion, expressiveness, and less conflict compared with those recommended for aesthetic surgery (P < .05). For cohesion and expressiveness, significant main effects for race (P = .012, P < .0001, respectively) and ethnicity (P =.004, P < .0001, respectively) were found but not for their interaction. No significant differences were found on the conflict domain. Families with private insurance reported significantly greater cohesion (P < .001) and expressiveness (P < .001) than did families with public insurance. Conclusions Family functioning across domains was in the average range. However, observed differences by race, ethnicity, type of insurance, and surgical recommendation may warrant consideration in clinical management for patients and families. PMID:25405543

  15. Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL [+-] P)

    SciTech Connect

    Shaw, D.; Field, L. ); Ray, A. ); Marazita, M. )

    1993-11-01

    Chenevix-Trench et al. (1992) reported a significant difference between nonsyndromic cleft lip with or without cleft palate (CL [+-] P) cases and unrelated controls in the frequency of alleles at the retinoic acid receptor alpha (RARA) PstI RFLP located at 17q21.1. They also observed borderline significant (P = .055) differences between allele frequencies in subjects with cleft lip and palate (CL + P) compared with those with cleft lip only (CL). Retinoic acid (RA) is a known teratogen capable of producing cleft palate in rodents (Abbott and Birnbaum 1990). Chenevix-Tench et al. (1992) hypothesized that variation in susceptibility to the effects of RA in humans may result from alterations at the RARA locus. We have investigated association and linkage between CL [+-] P and a microsatellite marker (D17S579) located at 17q21 (Hall et al. 1992), selected for its proximity to RARA, in 14 extended multiplex families from rural West Bengal, India.

  16. 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

  17. Reconstruction of Congenital Nose, Cleft Primary Palate, and Lip Disorders.

    PubMed

    Fiani, Nadine; Verstraete, Frank J M; Arzi, Boaz

    2016-07-01

    Clefts of the primary palate in the dog are uncommon, and their repair can be challenging. The aims of this article are to provide information regarding pathogenesis and convey practical information for the repair of these defects. PMID:26965528

  18. Identification of a novel heterozygous truncation mutation in exon 1 of ARHGAP29 in an Indian subject with nonsyndromic cleft lip with cleft palate

    PubMed Central

    Chandrasekharan, Deepak; Ramanathan, Arvind

    2014-01-01

    Objective: Mutations in exon 1 of ARHGAP29, a RhoA specific GTPase have been identified in North American and Filipino subjects with nonsyndromic cleft palate and cleft lip with or without cleft palate. Since the genetic status of ARHGAP29 in Indian subjects with nonsyndromic oral clefts is not known, we designed the present study to investigate the occurrence of the above mutations in them. Materials and Methods: Total genomic DNA extracted from peripheral blood of 60 subjects with nonsyndromic cleft palate and cleft lip with or without cleft palate, and equal number of control healthy subjects were amplified with primers flanking exon 1 of ARHGAP29 gene and subjected to direct sequencing. Results: Sequencing analysis identified a nonsense mutation in exon 1 of ARHGAP29 that caused substitution of lysine to stop codon at codon position 32 in a subject with nonsyndromic cleft lip with cleft palate. The mutation, however, occurred in heterozygous condition. None of the other subjects carried mutation in this region. Conclusion: The study has thus identified a rare but novel truncation mutation in ARHGAP29 gene for the first time in nonsyndromic oral clefts. PMID:25512736

  19. 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

  20. Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey.

    PubMed Central

    Oğur, G; Yüksel, M

    1988-01-01

    Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation are reported. Similarities between these two brothers and previously reported cases and their mode of transmission are discussed. Images PMID:2832607

  1. 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)

  2. The Effect of Cleft Lip on Socio-Emotional Functioning in School-Aged Children

    ERIC Educational Resources Information Center

    Murray, Lynne; Arteche, Adriane; Bingley, Caroline; Hentges, Francoise; Bishop, Dorothy V. M.; Dalton, Louise; Goodacre, Tim; Hill, Jonathan

    2010-01-01

    Background: Children with cleft lip are known to be at raised risk for socio-emotional difficulties, but the nature of these problems and their causes are incompletely understood; longitudinal studies are required that include comprehensive assessment of child functioning, and consideration of developmental mechanisms. Method: Children with cleft…

  3. 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…

  4. Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up.

    PubMed

    König, Rainer; Beeg, Thomas; Tariverdian, Gholamali; Scheffer, Hans; Bitter, Klaus

    2003-10-01

    We describe a male patient with lobar holoprosencephaly, ectrodactyly, and cleft lip/palate, a syndrome which has been seen previously in only six patients. In addition, our patient developed hypernatraemia, which has been described in three patients before. PMID:14564207

  5. Quantifying Asymmetry and Scar Quality of Children With Repaired Cleft Lip and Palate Using Symnose 2.

    PubMed

    Pigott, Ronald W; Pigott, Brian B

    2016-05-01

    The Symnose semiautomated assessment of outcome of the appearance of the repaired cleft lip and nose was developed to measure asymmetry. Symnose 2 has been further developed to include quantification of the extent of scar color, intensity, and contour and midline dehiscence, underexpressed in the measurement of asymmetry. PMID:26295699

  6. Secondary rhinoplasty using flying-bird and vestibular tornado incisions for unilateral cleft lip patients.

    PubMed

    Matsuya, Tokuzo; Iida, Seiji; Kogo, Mikihiko

    2003-08-01

    To correct the nasal deformity in cleft lip patients, a new procedure of open rhinoplasty using a "flying-bird" incision in the nostril tip with a vestibule "tornado"-shaped incision in the cleft side is presented. The newly designed vestibular incision produces effective vestibular advancement with the freed lower lateral cartilage. The flying-bird incision makes it possible to produce a suitable nostril tip appearance with symmetrical external nostril vestibules. If the vestibular defect after flap advancement is wide, a full-thickness skin graft is used to give priority for making a good external nostril shape. This procedure is useful for most cleft lip noses, particularly in cases of moderate to severe deformity. PMID:12900595

  7. 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

  8. 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.

  9. Addressing the challenges of cleft lip and palate research in India

    PubMed Central

    Mossey, Peter; Little, Julian

    2009-01-01

    The Indian sub-continent remains one of the most populous areas of the world with an estimated population of 1.1 billion in India alone. This yields an estimated 24.5 million births per year and the birth prevalence of clefts is somewhere between 27,000 and 33,000 clefts per year. Inequalities exist, both in access to and quality of cleft care with distinct differences in urban versus rural access and over the years the accumulation of unrepaired clefts of the lip and palate make this a significant health care problem in India. In recent years the situation has been significantly improved through the intervention of Non Governmental Organisations such as SmileTrain and Transforming Faces Worldwide participating in primary surgical repair programmes. The cause of clefts is multi factorial with both genetic and environmental input and intensive research efforts have yielded significant advances in recent years facilitated by molecular technologies in the genetic field. India has tremendous potential to contribute by virtue of improving research expertise and a population that has genetic, cultural and socio-economic diversity. In 2008, the World Health Organisation (WHO) has recognised that non-communicable diseases, including birth defects cause significant infant mortality and childhood morbidity and have included cleft lip and palate in their Global Burden of Disease (GBD) initiative. This will fuel the interest of India in birth defects registration and international efforts aimed at improving quality of care and ultimately prevention of non-syndromic clefts of the lip and palate. PMID:19884687

  10. Rhinoplasty for the Cleft Lip and Palate Patient.

    PubMed

    Cuzalina, Angelo; Jung, Calvin

    2016-05-01

    Septorhinoplasties in cleft patients are challenging procedures to perform for even the most experienced surgeon. Unilateral cleft rhinoplasties present a unique challenge given that the tissue bed has had previous manipulation and scarring is found around the tissue matrix, making it typically necessary to place several sturdy cartilaginous grafts to provide structural support. Rib graft provides an abundance of cartilage that can be used for multiple areas. The ability to manipulate and adjust the thickness of the cartilage strut allows for improved integrity of the graft to resist deformation and warping from the formant scar tissue. PMID:26960915

  11. Current status of presurgical infant orthopaedic treatment for cleft lip and palate patients: A critical review

    PubMed Central

    Niranjane, P. Priyanka; Kamble, R. H.; Diagavane, S. Pallavi; Shrivastav, S. Sunita; Batra, Puneet; Vasudevan, S. D.; Patil, Pushkar

    2014-01-01

    Rehabilitation of cleft lip and palate (CLP) patients is a challenge for all the concerned members of the cleft team, and various treatment modalities have been attempted to obtain aesthetic results. Presurgical infant orthopaedics (PSIO) was introduced to reshape alveolar and nasal segments prior to surgical repair of cleft lip. However, literature reports lot of controversy regarding the use of PSIO in patients with CLP. Evaluation of long-term results of PSIO can provide scientific evidence on the efficacy and usefulness of PSIO in CLP patients. The aim was to assess the scientific evidence on the efficiency of PSIO appliances in patients with CLP and to critically analyse the current status of PSIO. A PubMed search was performed using the terms PSIO, presurgical nasoalveolar moulding and its long-term results and related articles were selected for the review. The documented studies report no beneficial effect of PSIO on maxillary arch dimensions, facial aesthetics and in the subsequent development of dentition and occlusion in CLP patients. Nasal moulding seems to be more beneficial and effective in unilateral cleft lip and palate patients with better long-term results. PMID:25593413

  12. Replication of 13q31.1 Association in Nonsyndromic Cleft Lip with Cleft Palate in Europeans

    PubMed Central

    Cooper, Margaret E.; Butali, Azeez; Standley, Jennifer; Rigdon, Jennifer; Suzuki1, Satoshi; Gongorjav, Ayana; Shonkhuuz, T. Enkhtur; Natsume, Nagato; Shi, Bing; Marazita, Mary L.; Murray, Jeffrey C.

    2015-01-01

    Genome wide association (GWA) studies have successfully identified at least a dozen loci associated with orofacial clefts. However, these signals may be unique to specific populations and require replication to validate and extend findings as a prelude to etiologic SNP discovery. We attempted to replicate the findings of a recent meta-analysis of orofacial cleft GWA studies using four different ancestral populations. We studied 946 pedigrees (3436 persons) of European (US white and Danish) and Asian (Japanese and Mongolian) origin. We genotyped six SNPs which represented the most significant P value associations identified in published studies: rs742071 (1p36), rs7590268 (2p21), rs7632427 (3p11.1), rs12543318 (8q21.3), rs8001641 (13q31.1) and rs7179658 (15q22.2). We directly sequenced three non-coding conserved regions 200kb downstream of SPRY2 in 713 cases, 438 controls, and 485 trios from the US, Mongolia, and the Philippines. We found rs8001641 to be significantly associated with cleft lip with cleft palate (NSCLP) in Europeans (p-value=4 × 10−5, ORtransmission=1.86 with 95% confidence interval: 1.38-2.52). We also found several novel sequence variants in the conserved regions in Asian and European samples, which may help to localize common variants contributing directly to the risk for NSCLP. This study confirms the prior association between rs8001641 and NSCLP in European populations. PMID:25786657

  13. 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. PMID:25148620

  14. Do cleft lip and palate patients opt for secondary corrective surgery of upper lip and nose, frequently?

    PubMed Central

    2013-01-01

    Purpose This prospective study was aimed at assessing cleft lip and palate (CLP) patients’ opinions and attitudes towards their upper lip and nose and the number of secondary corrective surgical interventions electively undertaken to upper lip and nose that were carried out during a 2 year follow-up period. Materials and methods During a 2 year follow-up period CLP outpatients were recruited for the study who attended follow-up examinations at a cleft lip and palate craniofacial center and received a recommendation for secondary corrective facial surgery. The participants filled in a questionnaire that included questions regarding the patients’ opinions and attitudes towards appearance of lip and nose and need for secondary corrective facial surgery. During an additional interval of 2 years the rate of patients who underwent secondary corrective surgery to lip and nose was documented. Results Out of 362 CLP patients 37 (mean age 13.6 ± 7.6 years) received a recommendation for secondary corrective surgery to upper lip and/or nose. 22 patients (mean age 12.6 ± 6.3 years) filled in the questionnaire (response rate of 62.1%). The satisfaction with the overall facial appearance following the first corrective operation was statistically significantly better than the satisfaction with the nose (p = .016). The satisfaction with facial symmetry (5.6 ± 2.0) did not differ statistically significantly from the overall satisfaction with the facial appearance (6.2 ± 1.8; p = .093). Significantly fewer patients (n = 9) opted for corrective surgery compared to the number of patients who got the recommendation to have secondary corrective surgery done (n = 22, p < .0005). Conclusions The findings of the present study may reflect a high overall patient satisfaction with the primary treatment outcome following surgery for CLP. Perceived patient need for secondary operation for the lip/nose may be as low as 5%. PMID:24321223

  15. Treatment of cleft lip and palate during the Revolutionary war: bicentennial reflections.

    PubMed

    Rogers, B O

    1976-10-01

    Cleft palate surgery was not performed either in Europe or in America during the time of America's Revolutionary War. Cleft lip surgery was performed by the pinning and figure-of-eight thread method of closure in keeping with current European teachings on the subjects. This surgery was frequently performed by itinerant mendicants, charlatans, and also by the more legitimate members of the surgical community living in the 13 states at the time of the Revolution. A brief review of the surgical methods employed form the major portion of the article. PMID:786505

  16. A computer-aided method of measuring nasal symmetry in the cleft lip nose.

    PubMed

    Coghlan, B A; Laitung, J K; Pigott, R W

    1993-01-01

    Objective assessment of the results of cleft lip and nose surgery is necessary to quantify differences between alternative surgical techniques. A previously described method of measuring facial asymmetry has been modified to allow a comparison of differently treated cleft noses (radical nasal correction versus no nasal correction). Standardised, inferior view photographs of 10-year-olds were obtained from patient records. These were projected, traced, digitised and analysed using a BBC microcomputer. A method of excluding the ill-defined nasal baseline by obtaining a mirror-image of the upper nasal perimeter is described. The method has a high degree of inter and intra observer reproducibility. PMID:8503955

  17. 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. PMID:26928557

  18. Electrophysiological assessment of auditory processing disorder in children with non-syndromic cleft lip and/or palate

    PubMed Central

    McPherson, Bradley; Ma, Lian

    2016-01-01

    Objectives Cleft lip and/or palate is a common congenital craniofacial malformation found worldwide. A frequently associated disorder is conductive hearing loss, and this disorder has been thoroughly investigated in children with non-syndromic cleft lip and/or palate (NSCL/P). However, analysis of auditory processing function is rarely reported for this population, although this issue should not be ignored since abnormal auditory cortical structures have been found in populations with cleft disorders. The present study utilized electrophysiological tests to assess the auditory status of a large group of children with NSCL/P, and investigated whether this group had less robust central auditory processing abilities compared to craniofacially normal children. Methods 146 children with NSCL/P who had normal peripheral hearing thresholds, and 60 craniofacially normal children aged from 6 to 15 years, were recruited. Electrophysiological tests, including auditory brainstem response (ABR), P1-N1-P2 complex, and P300 component recording, were conducted. Results ABR and N1 wave latencies were significantly prolonged in children with NSCL/P. An atypical developmental trend was found for long latency potentials in children with cleft compared to control group children. Children with unilateral cleft lip and palate showed a greater level of abnormal results compared with other cleft subgroups, whereas the cleft lip subgroup had the most robust responses for all tests. Conclusion Children with NSCL/P may have slower than normal neural transmission times between the peripheral auditory nerve and brainstem. Possible delayed development of myelination and synaptogenesis may also influence auditory processing function in this population. Present research outcomes were consistent with previous, smaller sample size, electrophysiological studies on infants and children with cleft lip/palate disorders. In view of the these findings, and reports of educational disadvantage associated

  19. Cleft lip with or without cleft palate: Associations with transforming growth factor alpha and retinoic acid receptor loci

    SciTech Connect

    Chenevix-Trench, G.; Jones, K. Univ. of Queensland ); Green, A.C.; Duffy, D.L.; Martin, N.G. )

    1992-12-01

    The first association study of cleft lip with or without cleft palate (CL/P), with candidate genes, found an association with the transforming growth-factor alpha (TGFA) locus. This finding has since been replicated, in whole or in part, in three independent studies. Here the authors extend their original analysis of the TGFA TaqI RFLP to two other TGFA RFLPs and seven other RFLPs at five candidate genes in 117 nonsyndromic cases of CL/P and 113 controls. The other candidate genes were the retinoic acid receptor (RARA), the bcl-2 oncogene, and the homeobox genes 2F, 2G, and EN2. Significant associations with the TGFA TaqI and BamHI RFLPs were confirmed, although associations of clefting with previously reported haplotypes did not reach significance. Of particular interest, in view of the known teratogenic role of retinoic acid, was a significant association with the RARA PstI RFLP (P = .016; not corrected for multiple testing). The effect on risk of the A2 allele appears to be additive, and although the A2A2 homozygote only has an odds ratio of about 2 and recurrence risk to first-degree relatives ([lambda][sub 1]) of 1.06, because it is so common it may account for as much as a third of the attributable risk of clefting. There is no evidence of interaction between the TGFA and RARA polymorphisms on risk, and jointly they appear to account for almost half the attributable risk of clefting. 43 refs., 1 fig., 4 tabs.

  20. 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…

  1. 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…

  2. 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

    2013-01-01

    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

  3. Telescopic crowns in adult case with lip and palate cleft. Update on the etiology and management.

    PubMed

    Mañes Ferrer, José Félix; Martínez González, Amparo; Oteiza Galdón, Begoña; Bouazza Juanes, Kheira; Benet Iranzo, Francisco; Candel Tomás, Ana

    2006-07-01

    Lip and palatal clefts are among the most important congenital craniofacial malformations to be taken into account in general dental practice, due to their high incidence and important repercussions upon the oral cavity. The underlying causes are genetic and fundamentally environmental, and the disorders manifest as early as in the embryonic period. Males are predominantly affected, with a 7:3 ratio versus females. Our patient, a 20-year-old male, presented the most common association, i.e., total unilateral hare lip with palatal cleft. A description is provided of the treatment for his dental problem, together with an update on the etiology and management of adults with malformations of this kind. PMID:16816823

  4. 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…

  5. Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs

    PubMed Central

    Young, I D; Macrae, W G; Hughes, H E; Crawford, J S

    1982-01-01

    This paper describes two sibs in each of whom Keratoconus posticus circumscriptus is associated with multiple abnormalities. These include short stature, mental retardation, cleft lip and palate, and vertebral anomalies. The authors have been unable to trace any former reports of an identical condition and suggest that the findings in these children may represent a previously unrecognised malformation syndrome showing probable autosomal recessive inheritance. Images PMID:7143385

  6. [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. PMID:23834977

  7. Use of anterior maxillary distraction osteogenesis in two cleft lip and palate patients

    PubMed Central

    Srivastava, Dhirendra; Ghassemi, Alireza; Ghassemi, Mehrangiz; Showkatbakhsh, Rahman; Jamilian, Abdolreza

    2015-01-01

    Distraction osteogenesis (DO) has become a mainstream surgical technique for patients with jaw deformities. The aim of this study was to report the effect of DO done by a hyrax screw incorporated in an acrylic plate in the treatment of two maxillary deficient cases with cleft lip and palate. Two patients, a 24-year-old female and a 29-year-old male who suffered from maxillary deficiency and cleft lip and palate, were treated by DO. After making vertical cuts between the premolars on both sides and horizontal cuts similar to Le Fort 1, a hyrax screw was mounted on an acrylic plate for the slow anteroposterior expansion of maxillary arch. The expansion was achieved by turning the hyrax screw 0.8 mm per day after the latency period. Treatment was discontinued after achieving satisfactory over jet and occlusion. This study showed that anterior maxillary distraction is a reliable technique for correction of midfacial deformity arising out of cleft lip and palate. Incidences of complications are negligible compared to total maxillary distraction. PMID:26668459

  8. Prevalence and management of natal/neonatal teeth in cleft lip and palate patients

    PubMed Central

    Yilmaz, R. Burcu Nur; Cakan, Derya Germec; Mesgarzadeh, Nasim

    2016-01-01

    Objective: The aim of this study was to determine the prevalence and distribution of natal/neonatal teeth in infants with cleft lip and palate (CLP) according to gender, involving jaw and side and to show the management of some cases. Materials and Methods: A retrospective study was carried out on medical history and photographic records of 69 infants with CLP, who were treated at the CLP clinic of Yeditepe University between years 2014–2015. The presence of neonatal teeth was determined, and if present the gender, type of cleft, and position were recorded. Statistical analysis was performed. Results: Neonatal teeth were observed in 7% of the study group. No significant differences were found between cleft types and gender (P > 0.05). The prevalence of neonatal teeth in bilateral, unilateral and isolated cleft type was 16.5%, 6.5%, and none, respectively. All neonatal teeth were located in the maxilla and on the cleft-side (100%). Conclusion: The presence of natal/neonatal teeth in infants with CLP was not rare. In all of these cases the teeth were located adjacent to the cleft region. In isolated palatal cleft, where the alveolar region including the teeth buds are away from the cleft, no neonatal teeth were observed. It may be concluded that neonatal teeth in infants with CLP are frequently present and located inside the borders of the presurgical orthopedic treatment (POT) plate. Therefore, if possible, immediate extraction of the neonatal teeth is advised or if not possible because of systemic health reasons, modifications of the plate are required. PMID:27011740

  9. Genomic expression in non syndromic cleft lip and palate patients: A review

    PubMed Central

    Mehrotra, D.

    2015-01-01

    Cleft lip and palate are common congenital anomalies with significant medical, psychological, social, and economic ramifications, affecting one in seven hundred live births. Genetic causes of non syndromic cleft lip and/or palate (NSCLP) include chromosomal rearrangements, genetic susceptibility to teratogenic exposures, and complex genetic contributions of multiple genes. Development of the orofacial clefts in an individual will depend on the interaction of several moderately effecting genes with environmental factors. Several candidate genes have been genotyped in different population types, using case parent trio or case control design; also genes have been sequenced and SNPs have been reported. Quantitative and molecular analysis have shown linkage and association studies to be more relevant. Recent literature search shows genome wide association studies using microarray. The aim of this paper was to review the approaches to identify genes associated with NSCLP and to analyze their differential expressions. Although no major gene has been confirmed, a lot of research is ongoing to provide an understanding of the pathophysiology of the orofacial clefts. PMID:26258020

  10. 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. PMID:26123647

  11. 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.

  12. Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate

    PubMed Central

    Chiquet, Brett T.; Blanton, Susan H.; Burt, Amber; Ma, Deqiong; Stal, Samuel; Mulliken, John B.; Hecht, Jacqueline T.

    2008-01-01

    Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect. Genetic and environmental factors have been causally implicated and studies have begun to delineate genetic contributions. The Wnt genes are involved in regulating mid-face development and upper lip fusion and are therefore strong candidates for an etiological role in NSCLP. Furthermore, the clf1 region in A/WyN clefting susceptible mice contains the Wnt3 and Wnt9B genes. To assess the role of the Wnt family of genes in NSCLP, we interrogated seven Wnt genes (Wnt3, Wnt3A, Wnt5A, Wnt7A, Wnt8A, Wnt9B and Wnt11) in our well-defined NSCLP dataset. Thirty-eight single nucleotide polymorphisms were genotyped in 132 multiplex NSCLP families and 354 simplex parent–child trios. In the entire dataset, single-nucleotide polymorphisms (SNPs) in three genes, Wnt3A (P = 0.006), Wnt 5A (P = 0.002) and Wnt11 (P = 0.0001) were significantly associated with NSCLP after correction for multiple testing. When stratified by ethnicity, the strongest associations were found for SNPs in Wnt3A (P = 0.0007), Wnt11 (P = 0.0012) and Wnt8A (P = 0.0013). Multiple haplotypes in Wnt genes were associated with NSCLP, and gene–gene interactions were observed between Wnt3A and both Wnt3 and Wnt5A (P = 0.004 and P = 0.039, respectively). This data suggests that alteration in Wnt gene function may perturb formation and/or fusion of the facial processes and predispose to NSCLP. PMID:18413325

  13. Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate.

    PubMed

    Chiquet, Brett T; Blanton, Susan H; Burt, Amber; Ma, Deqiong; Stal, Samuel; Mulliken, John B; Hecht, Jacqueline T

    2008-07-15

    Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect. Genetic and environmental factors have been causally implicated and studies have begun to delineate genetic contributions. The Wnt genes are involved in regulating mid-face development and upper lip fusion and are therefore strong candidates for an etiological role in NSCLP. Furthermore, the clf1 region in A/WyN clefting susceptible mice contains the Wnt3 and Wnt9B genes. To assess the role of the Wnt family of genes in NSCLP, we interrogated seven Wnt genes (Wnt3, Wnt3A, Wnt5A, Wnt7A, Wnt8A, Wnt9B and Wnt11) in our well-defined NSCLP dataset. Thirty-eight single nucleotide polymorphisms were genotyped in 132 multiplex NSCLP families and 354 simplex parent-child trios. In the entire dataset, single-nucleotide polymorphisms (SNPs) in three genes, Wnt3A (P = 0.006), Wnt 5A (P = 0.002) and Wnt11 (P = 0.0001) were significantly associated with NSCLP after correction for multiple testing. When stratified by ethnicity, the strongest associations were found for SNPs in Wnt3A (P = 0.0007), Wnt11 (P = 0.0012) and Wnt8A (P = 0.0013). Multiple haplotypes in Wnt genes were associated with NSCLP, and gene-gene interactions were observed between Wnt3A and both Wnt3 and Wnt5A (P = 0.004 and P = 0.039, respectively). This data suggests that alteration in Wnt gene function may perturb formation and/or fusion of the facial processes and predispose to NSCLP. PMID:18413325

  14. Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations.

    PubMed

    Kempa, Inga; Ambrozaitytė, Laima; Stavusis, Janis; Akota, Ilze; Barkane, Biruta; Krumina, Astrida; Matulevičienė, Aušra; Utkus, Algirdas; Kučinskas, Vaidutis; Lace, Baiba

    2014-01-01

    Cleft lip with or without cleft palate (CLP and CL, respectively) and isolated cleft palate (CP) represent one of the most common human birth defects, with a prevalence of approximately 1 in 300-2500 depending on the population. Formation of non-syndromic CL/CLP and CP arises from the interaction of environmental and genetic factors. The objective of this study was to investigate the association between the BMP4 gene (encoding bone morphogenetic protein 4) and non-syndromic CL/CLP and CP in order to clarify the role of this gene in the aetiology of the malformation in Latvian and Lithuanian populations. We genotyped three markers of the BMP4 gene (rs17563, rs2071047 and rs1957860) in order to perform single marker and haplotype association analyses for Latvian and Lithuanian non-syndromic CL/CLP and CP patients and controls. Transmission disequilibrium test was also conducted for Latvian and Lithuanian proband-parent trios. The case-control analysis revealed that SNP rs2071047 allele A was associated with a decreased risk of CL/CLP in the Latvian population, which was confirmed by the haplotype analysis. A modest association was detected between SNP rs1957860 and CP in the Lithuanian population, where allele C was associated with a decreased risk of this cleft phenotype, corroborating haplotype analysis data. Our findings support a role of the BMP4 gene in the aetiology of non-syndromic CL/CLP and CP in the studied populations. PMID:25471993

  15. 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

  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. Teleducation about Cleft Lip and Palate: An Interdisciplinary Approach in the Promotion of Health.

    PubMed

    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

    2015-04-01

    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

  18. IRF6 Is a Marker of Severity in Nonsyndromic Cleft Lip/Palate.

    PubMed

    Kerameddin, S; Namipashaki, A; Ebrahimi, S; Ansari-Pour, N

    2015-09-01

    Nonsyndromic cleft lip with or without palate (CL/P) is thought to be caused by the interplay of genetic and environmental factors, and this has thus hindered the process of identifying genetic causative factors. Numerous studies in the past decade have implicated IRF6 in CL/P, but this has not often been replicated in other populations. In specific, the only etiologic single-nucleotide polymorphism (SNP) identified in the IRF6 locus (rs642961) has recently been shown not to be associated with CL/P in diverse populations. We therefore used a genewide tagging SNP (tagSNP) haplotyping approach (including rs642961 as a tagSNP) to detect all potential risk-conferring haplotypes and combined this with detailed subphenotyping of CL/P cases (N = 150) according to severity. We observed a significant overrepresentation of a tagSNP haplotype carrying the rs642961 risk allele in the most severe subphenotype of CL/P (complete bilateral CL/P; P = 0.008, odds ratio = 4.97, 95% confidence interval = 1.33 to 18.46). It was recently shown that >80% of IRF6 mutations in syndromic CL/P occur on the same haplotype background. We therefore suggest that IRF6 is a marker of CL/P severity. PMID:25896061

  19. 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

  20. The Management of Iatrogenic Obstructive Sleep Apnoea Syndrome Following Bimaxillary Surgery in a Patient with Cleft Lip and Palate.

    PubMed

    Gerbino, Giovanni; Gervasio, Fernando Carmine; Blythe, John; Bianchi, Francesca Antonella

    2016-07-01

    A 26-year-old man presented with a 6-year history of severe obstructive sleep apnoea syndrome followed a bimaxillary osteotomy procedure for a class III skeletal pattern. The patient was born with a unilateral cleft lip and palate and underwent primary lip and palate repair and later a pharyngeal flap for severe velopharyngeal insufficiency. Surgical management of obstructive sleep apnoea syndrome with conventional osteotomy, in cleft lip and palate patients, is a difficult problem. Distraction osteogenesis may provide a safer alternative. The authors describe and discuss the indications and the technical challenge of a multistage treatment protocol with distraction osteogenesis. PMID:27391499

  1. Minimally Painful Local Anesthetic Injection for Cleft Lip/Nasal Repair in Grown Patients

    PubMed Central

    Price, Christopher; Wong, Alison L.; Chokotho, Tilinde

    2014-01-01

    Introduction: There has been a recent interest in injecting large body and face areas with local anesthetic in a minimally painful manner. The method includes adherence to minimal pain injection details as well feedback from the patient who counts the number of times he feels pain during the injection process. This article describes the successes and limitations of this technique as applied to primary cleft lip/nasal repair in grown patients. Methods: Thirty-two primary cleft lip patients were injected with local anesthesia by 3 surgeons and then underwent surgical correction of their deformity. At the beginning of the injection of the local anesthetic, patients were instructed to clearly inform the injector each and every time they felt pain during the entire injection process. Results: The average patient felt pain only 1.6 times during the injection process. This included the first sting of the first 27-gauge needle poke. The only pain that 51% of the patients felt was that first poke of the first needle; 24% of the patients only felt pain twice during the whole injection process. The worst pain score occurred in a patient who felt pain 6 times during the injection process. Ninety-one percent of the patients felt no pain at all after the injection of the local anesthetic and did not require a top-up. Conclusion: It is possible to successfully and reliably inject local anesthesia in a minimally painful manner for cleft lip and nasal repair in the fully grown cleft patient. PMID:25289364

  2. 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. PMID:23714889

  3. Contemporary management of cleft lip and palate in the United Kingdom. Have we reached the turning point?

    PubMed

    Colbert, S D; Green, Ben; Brennan, P A; Mercer, N

    2015-09-01

    Babies born with clefts of the lip, and the alveolus or palate, or both, require multidisciplinary, highly specialised treatment from birth to early adulthood. We review the contemporary management of clefts and outline the current treatment protocol adopted by cleft networks in the United Kingdom. We also look at the level of evidence and the restructuring of services that has defined current practice. In light of the recent Cleft Care UK study, we ask whether it is now time to adopt a new philosophy towards the surgical techniques that are used. PMID:26130590

  4. Prospective Analysis of Secondary Alveolar Bone Grafting in Cleft Lip and Palate Patients

    PubMed Central

    Reddy, M Gokul Chandra; Babu, V Ramesh; Rao, V Eswar; Chaitanya, J Jaya; Allareddy, S; Reddy, C Charan Kumar

    2015-01-01

    Background: To assess the success of the uptake of bone graft in cleft alveolus of the cleft lip and palate patients, quantitatively through computed tomography (CT) scan 6 months postoperative. To assess the successful eruption of permanent lateral incisor or canine in the bone grafted area. Materials and Methods: The children age group of 9-21 years with unilateral cleft lip and palate came to the hospital, needing secondary alveolar bone grafting. A detailed history and clinical examination of the patient was taken. A 3D CT scan was taken and the volume of the cleft was measured pre-operatively. After ambulatory period, 3D CT scan of the alveolar cleft region was taken and volume of the bone grafted was measured and patient was discharged from the hospital. After 6 months, patient was recalled and again 3D CT scan was taken and the volume of remaining bone was measured. Results: The mean volume of the defect pre-operatively is 0.80 cm3 with a standard deviation of 0.36 cm3 with minimum volume of the defect 0.44 cm3 and maximum volume of the defect 1.60 cm3. The mean volume of the bone post-operative immediately after grafting is 1.01 cm3 with a standard deviation of 0.52 cm3 with minimum of bone volume is 0.48 cm3 and maximum of 2.06 cm3. The mean volume of the bone after 6 months after bone grafting is 0.54 cm3 with a standard deviation of 0.33 cm3, minimum bone volume of 0.22 cm3 and maximum bone volume of 1.42 cm3. Conclusion: The CT scan is a valuable radiographic imaging modality to assess and follow the clinical outcome of secondary alveolar bone grafting. PMID:25954076

  5. 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

  6. Craniofacial variability and morphological integration in mice susceptible to cleft lip and palate

    PubMed Central

    Hallgrímsson, Benedikt; Dorval, Curtis J; Zelditch, Miriam Leah; German, Rebecca Z

    2004-01-01

    A/WySnJ mice are an inbred strain that develops cleft lip with or without cleft palate (CL/P) with a frequency of 25–30% and a predominantly unilateral expression pattern. As in humans, the pattern of incomplete penetrance, and variable and frequent unilateral expression suggests a role for altered regulation of variability (developmental stability, canalization and developmental integration) during growth. We compared both mean and variability parameters for craniofacial shape and size among A/WySnJ mice, a strain that does not develop CL/P (C57BL/6J) and their F1 cross. We show that adult A/WySnJ mice that do not express cleft lip exhibit decreased morphological integration of the cranium and that the co-ordination of overall shape and size variation is disrupted compared with both C57BL/6J mice and the F1 cross. The decrease in integration is most pronounced in the palate and face. The absence of this pattern in the F1 cross suggests that it is determined by recessive genetic factors. By contrast, the shape differences between the strains, which are thought to predispose A/WySnJ mice to CL/P, show a range of dominance which suggests a polygenic basis. We suggest that decreased integration of craniofacial growth may be an aetiological factor for CL/P in A/WySnJ mice. PMID:15610397

  7. 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

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

    PubMed

    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

  9. Developing a visual rating chart for the esthetic outcome of unilateral cleft lip and palate repair

    PubMed Central

    Adeola, A. Olusanya; Oladimeji, A. Akadiri

    2015-01-01

    Introduction: Aesthetic impairment is a major concern for the cleft lip/palate patient. Thus, auditing of postsurgical esthetic outcome needs to be further explored as till date no universally accepted protocol exists. The study objective was to propose a new visual rating chart (VRC) for the aesthetic outcome of cleft lip and palate (CLP) surgery. Materials and Methods: In a retrospective review of 200 repaired clefts, the common esthetic deficiencies were identified, categorized and ranked in the order of severity. A chart of the illustrative diagram with textual description of the defects was produced and used as a basis for rating outcome by two groups of raters (familiar raters and recruited raters). Intra- and inter-raters reliability was estimated using Cohen's kappa statistics and intra-class correlation coefficient (ICC). Comparison between mean group coefficient was achieved with Kendall's correlation coefficient of concordance. Results: The intra- and inter-rater reliability for familiar raters was found to be strong with kappa values range of 0.80–0.87 (P < 0.001). Similarly, inter-raters’ reliability by recruited judges was very strong using ICC at both single (0.768) and average measures (0.982). Conclusion: The VRC is a reliable tool for assessing the esthetic outcome of CLP repairs. PMID:26389035

  10. Assessing the Effectiveness of Massage Therapy for Bilateral Cleft Lip Reconstruction Scars

    PubMed Central

    McKay, Emilie

    2014-01-01

    Background and Objective Bilateral cleft lips occur when the bones that form the upper lip fail to fuse at birth. Surgical reconstruction creates scars, which may lead to the following impairments: adhesions, decreased oral range of motion, decreased strength of orbicularis oris muscle, and asymmetry of oral region leading to poor self-esteem. The purpose of this case study is to determine the effectiveness of massage therapy in its ability to improve these impairments. Methods A five-week treatment plan consisting of fascial release, kneading, and intraoral techniques. Subjective information was assessed on two scales: restriction of scar and clients attitudes and acceptance of scar. Objective information was cataloged through photographs, a palpatory chart, and a self-created “Pen Test”. Results Results included increase range of motion and strength, decrease restrictions (palpable and subjective), and increase of symmetry. Client’s perceived confidence of scar and its appearance increased. Conclusions The evidence suggests that massage therapy helped with the impairments associated with scars formed by bilateral cleft lip reconstruction. PMID:24920967

  11. Perioperative respiratory complications in cleft lip and palate repairs: An audit of 1000 cases under ‘Smile Train Project’

    PubMed Central

    Kulkarni, Kalpana R; Patil, Mohan R; Shirke, Abasaheb M; Jadhav, Shivaji B

    2013-01-01

    Background and Aim: Anaesthesia for cleft surgery in children is associated with a variety of airway related problems. This study aims to review the frequency of associated anomalies and other conditions as well as perioperative respiratory complications during the cleft lip/palate repair surgeries. Methods: An audit of 1000 cleft surgeries in children enrolled under “Smile Train” is presented. Following informed consent, general anaesthesia was induced with endotracheal (ET) intubation using halothane in O2 and/or intravenous thiopentone 5 mg/kg or propofol 1.5 mg/kg, suxamethonium 1.5 mg/kg or rocuronium 0.8 mg/kg and maintained with halothane/isoflurane 0.4-1% in 50% N2O in O2 with rocuronium. The observational data regarding the occurrence of perioperative complications in 1000 cleft surgeries are mentioned as mean (standard deviation), number and percentage as appropriate. ‘Two sample t-test between percentage’ is applied for significance. Results: The frequency of isolated cleft lip was 263 (36.4%), cleft palate 183 (25.3%) and combined defect 277 (38.3%) of the operated cases. Other congenital anomalies were present in 21 (2.8%) of the children. The intraoperative airway complications occurred in 13 (2.4%) of cleft lip and 40 (8.7%) of cleft palate repairs (P < 0.05). Post-operative respiratory complications were observed in 9 (1.7%) and 34 (7.4%) patients of cleft lip and palate repairs respectively (P < 0.05). Mortality occurred post-operatively in 2 (0.2%) of cleft repairs (n = 1000). Conclusion: Cleft deformities in children when associated with other congenital anomalies or respiratory problems pre-dispose them to difficult airway and pulmonary complications. Frequency of perioperative respiratory complications were significantly higher with cleft palate repair than with cleft lip repair. Anaesthetic expertise, optimum monitoring facility and specialised post-operative care is necessary to decrease the morbidity. PMID:24403615

  12. Longitudinal treatment of cleft lip and palate in developing countries: dentistry as part of a multidisciplinary endeavor.

    PubMed

    Lee, Cameron C Y; Jagtap, Rasika R; Deshpande, Gaurav S

    2014-09-01

    Cleft lip and palate affects roughly 1 in 600 children and predisposes patients to a lifetime of functional and esthetic discrepancies. Disparities in access as well as quality of care exist worldwide, with many children in developing countries unable to receive treatment. In the late 20th century, humanitarian medical missions emerged as a means of delivering surgical expertise to patients in resource-limited settings. These early missions took on a patient-centered approach focused solely on cleft repair, with little emphasis on treating the dental abnormalities that arose after the initial surgery. However, modern cleft care is characterized by a multidisciplinary, team-based approach with significant dental involvement. Recent cleft lip and palate endeavors have shifted from a mission-based approach to a developmental approach facilitating growth of an independent care center. This strategy focuses on creating an institution with expanded access to dental services, thus facilitating the long-term treatment inherent in modern cleft care. One clinic in a developing country that has experienced successful transitioning from a mission site to an independent craniofacial clinic is Operation Smile's Cleft Comprehensive Care Clinic in Guwahati, India. This article will summarize the rationale and planning of the clinic, underscore the team-based approach required in longitudinal treatment of cleft lip and palate, and demonstrate how treatment methodology may differ in resource-limited settings by outlining the therapeutic considerations of each provider in the Guwahati Clinic. PMID:25162552

  13. SATB2 gene variants in non-syndromic cleft lip with or without cleft palate in Indian population

    PubMed Central

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

    2015-01-01

    Objectives Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial birth defects and little is known about its aetiology. Initial studies of cytogenetic analysis provided the clues for possible genes involved in the pathogenesis of NSCL/P. This approach led to the identification of SATB2 gene on 2q32-q33. The aim of this study was to determine the association between SATB2 mutations and NSCL/P. Materials and methods The rs137853127, rs200074373 and rs1992950 mutations of the SATB2 gene were investigated in 173 patients with NSCL/P and 176 normal controls using Kbioscience KASPar chemistry, which is a competitive allele-specific PCR SNP genotyping system. Results The mutations in exon 6 (rs137853127 and rs200074373) were monomorphic, the intronic variant (rs1992950) was polymorphic and genotype distribution was in agreement with Hardy–Weinberg equilibrium. The rs1992950 genotype distribution is not statistically significant between NSCL/P and controls. Conclusion Our findings suggest that the SATB2 gene variations do not contribute to the development of NSCL/P in the south Indian population. PMID:26605140

  14. Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.

    PubMed

    Sun, Yimin; Huang, Yongqing; Yin, Aihua; Pan, Yongchu; Wang, Yirui; Wang, Cheng; Du, Yong; Wang, Meilin; Lan, Feifei; Hu, Zhibin; Wang, Guoqing; Jiang, Min; Ma, Junqing; Zhang, Xiaozhuang; Ma, Hongxia; Ma, Jian; Zhang, Weibing; Huang, Qun; Zhou, Zhongwei; Ma, Lan; Li, Yadi; Jiang, Hongbing; Xie, Lan; Jiang, Yuyang; Shi, Bing; Cheng, Jing; Shen, Hongbing; Wang, Lin; Yang, Yinxue

    2015-01-01

    Nonsyndromic cleft lip with or without a cleft palate (NSCL/P) is among the most common human congenital birth defects and imposes a substantial physical and financial burden on affected individuals. Here, we conduct a case-control-based GWAS followed by two rounds of replication; we include six independent cohorts from China to elucidate the genetic architecture of NSCL/P in Chinese populations. Using this combined analysis, we identify a new locus at 16p13.3 associated with NSCL/P: rs8049367 between CREBBP and ADCY9 (odds ratio=0.74, P=8.98 × 10(-12)). We confirm that the reported loci at 1q32.2, 10q25.3, 17p13.1 and 20q12 are also involved in NSCL/P development in Chinese populations. Our results provide additional evidence that the rs2235371-related haplotype at 1q32.2 could play a more important role than the previously identified causal variant rs642961 in Chinese populations. These findings provide information on the genetic basis and mechanisms of NSCL/P. PMID:25775280

  15. Nonsyndromic cleft lip with or without cleft palate: Evidence of linkage to BCL3 in 17 multigenerational families

    SciTech Connect

    Stein, J.; Hecht, T.; Stal, S.

    1995-08-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial developmental defect. Recent segregation analyses have suggested that major genes play a role in the etiology of CL/P. Linkage to 22 candidate genes was tested in 11 multigenerational families with CL/P, and 21 of these candidates were excluded. APOC2, 19q13.1, which is linked to the proto-oncogene BCL3, gave suggestive evidence for linkage to CL/P. The study was expanded to include a total of 39 multigenerational CL/P families. Linkage was tested in all families, using anonymous marker, D19S178, and intragenic markers in BCL3 and APOC2. Linkage was tested under two models, autosomal dominant with reduced penetrance and affecteds-only model. Both models showed evidence of heterogeneity, with 43% of families linked at zero recombination to BCL3 when marker data from BCL3 and APOC2 were included. A maximum multipoint LOD score of 7.00 at BCL3 was found among the 17 families that had posterior probabilities {ge}50% in favor of linkage. The transmission disequilibrium test provided additional evidence for linkage with the 3 allele of BCL3 more often transmitted to affected children. These results suggest that BCL3, or a nearby gene, plays a role in the etiology of CL/P in some families. 39 refs., 8 figs., 4 tabs.

  16. Nonsyndromic cleft lip and palate: Evidence of linkage to a microsatellite marker on 6p23

    SciTech Connect

    Carinci, F.; Pezzetti, F.; Scapoli, L.; Padula, E.; Baciliero, U.; Curioni, C.; Tognon, M.

    1995-01-01

    Nonsydromic cleft lip with or without secondary clefting of the palate (CL+/{minus}P) is one of the most common birth defects. A previous linkage study concerning CL+/{minus}P and cleft palate (CP) families indicated chromosome 6p, near F13A locus, as a possible region for the presence of a clefting gene. More recently, another linkage study performed on a sample of 12 families with nonsyndromic CL+/{minus}P seemed to exclude this association. To test the hypothesis on the possible presence of a major gene on chromosome 6p, we carried out a study on a large sample (21) of CL+/{minus}P families from northeastern Italy. In conclusion, our investigation can be summarized as follows: (i) CL+/{minus}P disease appears to be heterogeneous; (ii) {approximately}66% of the pedigrees showed an autosomal dominant inheritance with incomplete penetrance; and (iii) CL+/{minus}P locus maps on 6p23 very close to or at the microsatellite marker D6S89. To verify whether the D6S89 is the closest marker to the CL+/{minus}P locus, additional examinations with new markers are underway. 19 refs., 1 fig., 1 tab.

  17. Morphometric analysis of brain shape in children with nonsyndromic cleft lip and/or palate

    PubMed Central

    Chollet, Madeleine B.; DeLeon, Valerie B.; Conrad, Amy L.; Nopoulos, Peg

    2013-01-01

    The purpose of this study was to test for differences in brain shape among children with cleft palate only (CP) (n = 22), children with cleft lip and palate (CLP) (n = 35), and controls (n = 39) using Euclidean distance matrix analysis. Sixteen percent of interlandmark distances differed between children with CP and controls, 10% differed between children with CLP and controls, and 10% differed between children with CP and children with CLP. Major differences in brain shape associated with CL/P included posterior expansion of the occipital lobe, reorientation of the cerebellum, heightened callosal midbody, and posterior displacement of the caudate nucleus and thalamus. Differences in brain shape unique to CP and to CLP were also identified. These results expand upon previous volumetric studies on brain morphology in individuals with CL/P and provide additional evidence that the primary defect in CL/P results in both facial and brain dysmorphology. PMID:24381208

  18. 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. PMID:25196126

  19. 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

  20. A Genome Wide Linkage Scan for Cleft Lip and Palate and Dental Anomalies

    PubMed Central

    Vieira, Alexandre R.; McHenry, Toby G.; Daack-Hirsch, Sandra; Murray, Jeffrey C.; Marazita, Mary L.

    2008-01-01

    We revisited 46 families with two or more siblings affected with an orofacial cleft that participated in previous genome wide studies and collected complete dental information. Genotypes from 392 microsatellite markers at 10 cM intervals were reanalyzed. We carried out four sets of genome wide analyses. First, we ran the analysis solely on the cleft status. Second, we assigned to any dental anomaly (tooth agenesis, supernumerary teeth, and microdontia) an affection status, and repeated the analysis. Third, we ran only the 19 families where the proband had a cleft with no dental anomalies. Finally, we ran only the 27 families that had a proband with cleft and additional dental anomalies outside the cleft area. Chromosomes (1, 2, 6, 8, 16, and 19) presented regions with LOD scores >2.0. Chromosome 19 has the most compelling results in our study. The LOD scores increased from 3.11 (in the scan of all 46 families with clefts as the only assigned affection status) to 3.91 when the 19 families whose probands present with no additional dental anomalies were studied, suggesting the interval 19p13.12-19q12 may contain a gene that contributes to clefts but not to dental anomalies. On the other hand, we found a LOD score of 3.00 in the 2q22.3 region when dental anomalies data were added to the analysis to define affection status. Our preliminary results support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies. Also, adding dental anomalies information will provide new opportunities to map susceptibility loci for clefts. PMID:18442096

  1. A modified presurgical orthopedic (nasoalveolar molding) device in the treatment of unilateral cleft lip and palate

    PubMed Central

    Subramanian, Chitravelu Siva; Prasad, N. K. K. Koteswara; Chitharanjan, Arun B.; Liou, Eric Jein Wein

    2016-01-01

    Nasoalveolar molding (NAM) can be done effectively to reshape the nasal cartilage and mold the maxillary dentoalveolar arch before surgical cleft lip repair and primary rhinoplasty. Presurgical NAM helps as an adjunct procedure to enhance the esthetic and functional outcome of the surgical procedures. We have developed a modified NAM device to suit to the needs of the patients coming from distant places for the treatment. This device helps in reducing the number of frequent visits the patient needs to take to the craniofacial center. The purpose of this presentation is to report this treatment technique and discuss its application. PMID:27403068

  2. A modified presurgical orthopedic (nasoalveolar molding) device in the treatment of unilateral cleft lip and palate.

    PubMed

    Subramanian, Chitravelu Siva; Prasad, N K K Koteswara; Chitharanjan, Arun B; Liou, Eric Jein Wein

    2016-01-01

    Nasoalveolar molding (NAM) can be done effectively to reshape the nasal cartilage and mold the maxillary dentoalveolar arch before surgical cleft lip repair and primary rhinoplasty. Presurgical NAM helps as an adjunct procedure to enhance the esthetic and functional outcome of the surgical procedures. We have developed a modified NAM device to suit to the needs of the patients coming from distant places for the treatment. This device helps in reducing the number of frequent visits the patient needs to take to the craniofacial center. The purpose of this presentation is to report this treatment technique and discuss its application. PMID:27403068

  3. Controversies in the Management of Patients with Cleft Lip and Palate.

    PubMed

    Rodman, Regina E; Tatum, Sherard

    2016-08-01

    Cleft lip and palate is one of the most common congenital anomalies. For many years, surgeons have been attempting to reduce the severity of the deformity before the surgical repair to achieve a better outcome. The nasoalveolar molding technique uses acrylic nasal stents attached to the vestibular shield of an oral molding plate to mold the nasal alar cartilages into a more normal form and position during the presurgical period. Proponents of nasoalveolar molding claim several benefits, including improved aesthetic outcome, reduced overall costs, and a psychosocial benefit to the family. Research on these outcomes is not conclusive. PMID:27400840

  4. Correction of nasal deformity in infants with unilateral cleft lip and palate using multiple digital techniques.

    PubMed

    Zheng, Yaqi; Zhang, Dapeng; Qin, Tian; Wu, Guofeng

    2016-06-01

    Presurgical correction of severe nasal deformities before cheiloplasty is often recommended for infants with cleft lip and palate. This article describes an approach for the computer-aided design and fabrication of a nasal molding stent. A 3-dimensional photogrammetric system was used to obtain the shape information of the nosewing that was then built as the nostril support for the nasal molding stent. The stent was fabricated automatically with a rapid prototyping machine. This technique may be an alternative approach to presurgical nasal molding in the clinic. Moreover, the patient's nasal morphology can be saved as clinical data for future study. PMID:26724850

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

    MedlinePlus

    ... will need fillings or removal of a tooth. Orthodontic Care The first orthodontic evaluation may be scheduled even before the child ... of the permanent teeth, the final phase of orthodontics completes alignment of the teeth. Coordinated Dental-Surgical ...

  6. Overview of orthodontic care for children with cleft lip and palate, 1915-2015.

    PubMed

    Vig, Katherine W L; Mercado, Ana M

    2015-10-01

    The purpose of this article is to review and discuss the advances in the management of children born with cleft lip and palate (CLP) as it has evolved over the past 100 years. This overview is based on articles published in the American Journal of Orthodontics, which frequently changed its name, over the past century. Additionally, other journals will be cited as craniofacial anomalies became recognized during the 20th century and the biologic basis became refined, with the new discipline of genetics replacing the term hereditary and its connotations of eugenics. The Human Genome Project, completed in 2003, has now provided an understanding of syndromic and nonsyndromic CLP that has led to advances in the diagnosis and treatment of CLP in the 21st century. These evolving concepts will be discussed in an overview of the types of procedures published from 1915 to 2015 and the major transition in the mid-20th century from multiple uncoordinated interventions from various specialists to a coordinated team approach in which the orthodontist has a specific role in the timing and sequencing of interdisciplinary treatment goals. Major technologic advancements in treatment modalities and the contemporary approach to the health-related quality of life of the patient and the caregiver have resulted in their participation in treatment options and decisions. The requirement of informed consent reflects the legal doctrine that now emphasizes the ethical imperative of greater respect for patient autonomy in the decision-making process. The orthodontist no longer makes decisions alone, but rather with the team and the patient or the caregiver. PMID:26432310

  7. 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

  8. Curvilinear transformation of z-shaped upper lip scar by diamond-shaped excision in secondary cleft lip deformities: a photogrammetric evaluation.

    PubMed

    Han, Kihwan; Jeong, Hoijoon; Choi, Tae Hyun; Kim, Jun Hyung; Son, Daegu

    2015-03-01

    Purpose : The visible Z-shaped upper lip scar that occurs after the Tennison and Randall triangular flap technique remains a cleft stigma. Herein, we present our curvilinear transformation technique for the Z-shaped upper lip scar by diamond-shaped excision and evaluate the results using photogrammetric analyses. Patients and Methods : From 1997 to 2006, 23 patients with secondary cleft lip deformity with the visible Z-shaped upper lip scar underwent correction with the technique. The scar was excised in the diamond shape above the muscle. After curvilinear closure, the elongated length of the upper lip was excised just below the nostril sill, as the measured Cupid's bow height discrepancy. The result was assessed by the authors' standardized photogrammetry technique. Results : There was a statistically significant decrease between the preoperative central limb of the Z-shaped scar and the width of the postoperative curvilinear upper lip scar. The pre- and postoperative Cupid's bow height differences were not statistically significant. Conclusions : The curvilinear transformation of the Z-shaped scar is an efficient procedure that provides (1) a significant decrease in the width of an upper lip scar to make it less conspicuous, (2) incorporation of the scar into the philtral column, (3) a biconcave natural philtral column shape in frontal view, and (4) formation of the natural concave philtral contour in profile view. PMID:25714266

  9. 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…

  10. The importance of accurate repair of the orbicularis oris muscle in the correction of unilateral cleft lip.

    PubMed

    Park, C G; Ha, B

    1995-09-01

    Most of the attempts and efforts in cleft lip repair have been directed toward the skin incision. The importance of the orbicularis oris muscle repair has been emphasized in recent years. The well-designed skin incision with simple repair of the orbicularis oris muscle has produced a considerable improvement in the appearance of the upper lip; however, the repaired upper lip seems to change its shape abnormally in motion and has a tendency to be distorted with age if the orbicularis oris muscle is not repaired precisely and accurately. Following the dissection of the normal upper lip and unilateral cleft lip in cadavers, we could find two different components in the orbicularis oris muscle, a superficial and a deep component. One is a retractor and the other is a constrictor of the lip. They have antagonistic actions to each other during lip movement. We also can identify these two different components of the muscle in the cleft lip patient during operation. We thought inaccurate and mixed connection between these two different functional components could make the repaired lip distorted and unbalanced, which would get worse during growth. By identification and separate repair of the two different muscular components of the orbicularis oris muscle (i.e., repair of the superficial and deep components on the lateral side with the corresponding components on the medial side), better results in the dynamic and three-dimensional configuration of the upper lip can be achieved, and unfavorable distortion can be avoided as the patients grow.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7652051

  11. Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

    PubMed Central

    Sharma, Deepak; Kumar, Chetan; Bhalerao, Sanjay; Pandita, Aakash; Shastri, Sweta; Sharma, Pradeep

    2015-01-01

    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis. PMID:26137453

  12. Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination.

    PubMed

    Sharma, Deepak; Kumar, Chetan; Bhalerao, Sanjay; Pandita, Aakash; Shastri, Sweta; Sharma, Pradeep

    2015-01-01

    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand-split foot-ectodermal dysplasia-cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis. PMID:26137453

  13. [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. PMID:26925569

  14. Three-dimensional digital models for rating dental arch relationships in unilateral cleft lip and palate.

    PubMed

    Chawla, O; Atack, N E; Deacon, S A; Leary, S D; Ireland, A J; Sandy, J R

    2013-03-01

    Objective : To determine the reliability and reproducibility of using three-dimensional digital models as an alternative to plaster models for rating dental arch relationships in patients born with unilateral cleft lip and palate. Design : Reliability and reproducibility study. Methods : Study models of 45 patients born with unilateral cleft lip and palate were made available in plaster and three-dimensional digital models. Records were scored a week apart by three examiners using the 5-year-olds' index reference models in the same two formats as the patient models. To assess reproducibility the study was repeated 4 weeks later under similar conditions to minimize the influence of memory bias on the results. The reliability of using the three-dimensional digital models was determined by comparing the scores for each examiner with the plaster model scores. Results : Weighted kappa statistics indicated repeatability for the plaster models was very good (.83 to .87). For the three-dimensional digital models it was good to very good (.74 to .83). Overall, the use of the three-dimensional digital models showed good agreement with the plaster model scores on both occasions. Conclusion : Three-dimensional digital models appear to be a good alternative to plaster models for assessing dental arch relationships using the 5-year-olds' index. PMID:22420605

  15. Assessment of Skeletal Age in Children with Unilateral Cleft Lip and Palate

    PubMed Central

    Ravikala, S

    2013-01-01

    ABSTRACT Objective: The objective of the study was to assess the skeletal maturity in children with unilateral cleft lip and palate (UCLP) and to compare it with that of the noncleft children. Design and setting: It is an institution based study conducted on randomly selected subjects visiting the hospital for consultation and treatment. Participants: A total of 60 children with UCLP (25 boys and 35 girls) and 60 noncleft children (30 boys and 30 girls) with normal occlusion in the age group of 10 to 15 years participated in the study. They were classified as younger (10 to 13 years) and older (13 to 15 years) age group and the cervical vertebrae were assessed in lateral cephalograms using Hassel and Farman, modifications of Lamparski's criteria. Statistical analysis: Data was analyzed using Fisher's exact test. Results: Younger age group children with UCLP showed significant delay in skeletal maturation when compared with the noncleft children, whereas older age group children with UCLP showed a faster rate of skeletal maturation when compared with that of noncleft children but the difference was statistically not significant. Conclusion: Children with UCLP exhibit delay in attaining skeletal maturation when compared to noncleft children. There is a delay in skeletal maturation at younger age but not in older age group of children with UCLP. How to cite this article: Ravi MS, Ravikala S. Assessment of Skeletal Age in Children with Unilateral Cleft Lip and Palate. Int J Clin Pediatr Dent 2013;6(3):151-155. PMID:25206213

  16. Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population

    SciTech Connect

    Jara, L.; Blanco, R.; Chiffelle, I.

    1995-07-17

    Two RFLPs at the TGFA locus were studied in 39 unrelated Chilean (Caucasoid-Mongoloid) patients with non-syndromic cleft lip/palate [CL(P)] and 51 control individuals. A highly significant association between BamHI A2 allele and CL(P) was detected ({chi}{sub 2} = 6.00; P = 0.014), while no association was found between TaqI RFLPs and clefting. No significant differences were found when comparing genotypes by type of cleft and a positive or negative family history of clefting. Our results seem to support rather definitively the association between TGFA and clefting but not support the hypothesis that TGFA is a major causal gene of CL(P). 29 refs., 5 tabs.

  17. Association of Transforming Growth Factor Alpha Polymorphisms with Nonsyndromic Cleft Lip and Palate in Iranian Population

    PubMed Central

    Ebadifar, Asghar; Hamedi, Roya; Khorram Khorshid, Hamid Reza; Saliminejad, Kioomars; Kamali, Koorosh; Aghakhani Moghadam, Fatemeh; Esmaeili Anvar, Nazanin; Ameli, Nazilla

    2015-01-01

    Background: Cleft lip with or without cleft palate (CL/P) is one of the most common congenital anomalies and the etiology of orofacial clefts is multifactorial. Transforming growth factor alpha (TGFA) is expressed at the medial edge epithelium of fusing palatal shelves during craniofacial development. In this study, the association of two important TGFA gene polymorphisms, BamHI (rs11466297) and RsaI (rs3732248), with CL/P was evaluated in an Iranian population. Methods: The frequencies of BamHI and RsaI variations were determined in 105 unrelated Iranian subjects with nonsyndromic CL/P and 218 control subjects using PCR and RFLP methods, and the results were compared with healthy controls. A p-value of <0.05 was considered statistically significant. Results: The BamHI AC genotype was significantly higher (p=0.016) in the patients (12.4%) than the control group (5.0%). The BamHI C allele was significantly higher (p=0.001; OR=3.4, 95% CI: 1.6–7.4) in the cases (8.0%) compared with the control group (2.5%). Conclusion: Our study showed that there was an association between the TGFA BamHI variation and nonsyndromic CL/P in Iranian population. PMID:26605011

  18. [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. PMID:27337934

  19. Etiology and genetic factors in clefts of lip and/or palate reported at children's hospital, Lahore, Pakistan.

    PubMed

    Yaqoob, Muhammad; Mahmood, Farrukh; Hanif, Ghazala; Bugvi, Saima Mansoor; Sheikh, Muhammad Afzal

    2013-04-01

    The etiology of cleft lip (CL) and/or cleft palate (CP) has been extensively studied in industrialized countries and is suggested to be heterogeneous with increasing evidence that both genetic and environmental factors are operating. To evaluate this assertion in a developing country like Pakistan, a case finding cross-sectional study was completed from 1(st) July 2010 to 31(st) May 2011 for 100 cases of CL and/or CP referred to the Genetic Clinic of the Children's Hospital, Lahore, Pakistan. A clinical examination followed by necessary diagnostic work-up was completed for each case. The cause of CL and/or CP was clear in 18% of the children (n = 18). Environmental causes were found in 6 children (four mothers developed hyperthermia during the 2(nd) month of gestation, one mother was diabetic, and one mother was a known case of epilepsy and took sodium valproate throughout her pregnancy). Six children were suffering from known genetic malformation syndromes (each with Jarcho-Levin syndrome, Oral-Facial-Digital syndrome type XI, Oral-Duplication syndrome, Kabuki syndrome, Fronto-nasal dysplasia and Nager syndrome). Novel chromosomal aberrations were identified in 2 children. In 82% of the children (n = 82) the cause of oro-facial clefts remained unknown. Impact of gender and consanguinity on the development of CL and/or CP was also studied. Prevalence of CP was significantly more among female children as compared to that in males (P < 0.05). Associated anomalies were present in 18% of the cases, anomalies of the craniofacial region being the most common. These findings were compared with regional and international studies. PMID:24019612

  20. Is Early Nasal Shaping With a Limited Alar Base Incision Possible in the Repair of Cleft Lips?

    PubMed

    Kapi, Emin; Bozkurt, Mehmet; Ozer, Torun; Celik, Mehmet Yusuf

    2016-05-01

    The repair of cleft lips has an important place in plastic and reconstructive surgery. In the treatment of these deformities, the aim was to restore the normal lip morphology in the cleft area as well as repairing any coexisting nasal deformities. Various methods are in use for this purpose. One of the most commonly employed surgical methods is Millard repair. However, this method may lead to additional scarring in the alar base on the cleft side subsequent to the incision. In this study, the results obtained from a group who have been applied alar base incisions during the modified Millard repair are compared to a group who have undergone intranasal wide dissections.The patients enrolled in the study were randomized into 2 groups. The first group were applied the modified Millard repair. In the second group, the rotation, advancement, and C-flaps were prepared according to Millard surgical repair technique; however, instead of an alar base and nasofacial groove incision on the cleft side, a nasal and maxillary supraperiosteal wide dissection was made through the incision in the mucosa of the nostril.The intranasal dissection performed during the study was observed to provide the targeted outcome and a more satisfactory cosmetic result through the modified Millard repair. In conclusion, the authors are of the opinion that the limited alar base incision and the wide supraperiosteal dissection performed in patients with cleft lips is an alternative method that can be employed in a wide range of patients. PMID:27092908

  1. The Effect of Cleft Lip on Cognitive Development in School-Aged Children: A Paradigm for Examining Sensitive Period Effects

    ERIC Educational Resources Information Center

    Hentges, Francoise; Hill, Jonathan; Bishop, Dorothy V. M.; Goodacre, Tim; Moss, Tony; Murray, Lynne

    2011-01-01

    Background: Our previous investigation showed that infants with cleft lip who had undergone late (three-month) surgical repair (but not those with early, neonatal, repair) had significantly poorer cognitive development at 18 months than a group of unaffected control children. These differences were mediated by the quality of early mother-infant…

  2. Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate

    PubMed Central

    Xu, Hao; Niu, Yonghua; Wang, Tao; Liu, Simin; Xu, Hua; Wang, Shaogang; Liu, Jihong; Ye, Zhangqun

    2015-01-01

    Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia and is sometimes associated with cleft lip/palate (CLP). In order to describe the clinical features, genetic etiology, and treatment outcome of KS males with CLP, we performed genetic screening for 15 known causal IHH genes (KAL1, FGFR1, NELF, FGF8, CHD7, WDR11, SEMA3A, KISS1R, KISS1, PROKR2, PROK2, TAC3, TACR3, GNRH1, and GNRHR) in four KS with CLP patients and six IHH patients without CLP. Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively. These two mutations were not presented in their healthy parents and 200 normal controls. One novel heterozygous missense mutation in KISS1R, (NM_032551): c.587C>A (p.P196H), was identified in an 18-year-old KS male with cleft lip and dental agenesis who developed sperm after being treated with gonadotropin. This mutation was also presented in his healthy father and grandfather. These results have implications for the diagnosis, genetic counseling, and treatment of KS and CLP males with mutations in FGFR1 gene. PMID:26199944

  3. Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC), is a rare genetic disorder due to mutations in the TP63 gene. In the present study, we characterized the pattern of growth and body composition, and the nutritional and gastrointestinal aspects of children and adults (n = 18) affected ...

  4. 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…

  5. 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. PMID:23782417

  6. Postoperative complications from primary repair of cleft lip and palate in a semi-urban Nigerian teaching hospital

    PubMed Central

    Adesina, Oluwafemi Adewale; Efunkoya, Akinwale Adeyemi; Omeje, Kelvin Uchenna; Idon, Paul Ikhodaro

    2016-01-01

    Background: This paper seeks to investigate the incidence of short-term postoperative complications in children and adult patients undergoing primary surgery of cleft lip and palate. Patients and Methods: One hundred and fifteen patients consisting of children (below 12 years) and adult (12 years and above) who were operated for both cleft lip and palate within a 2-year period at the University of Maiduguri Teaching Hospital were reviewed postoperatively at 1 week, 2 weeks, 1 month, 3 months, 6 months, and 1 year intervals, respectively. The complications encountered within the periods of the review were recorded. Results: One hundred and twenty surgeries were performed on 115 patients (85 children 30 Adults). A total of 43 complications (31 in children and 12 in adults) were recorded over the study period. Eighteen (41.9%) of these complications were noticed in unilateral cleft lip repair, while 12 (27.9%) and 13 (30.2%) complications were observed in bilateral cleft lip and cleft palate surgeries, respectively. A higher complication rate (72.0%) was recorded in children compared with adults. Major complications (13.9%) were, however, observed more in adults than children. Conclusion: Although every surgeon attempts to prevent complications during surgery, they may still occur. The high complication rate observed in our study may be due to a small sample size. General complications observed among children are due to cross infection during a hospital stay, contributing immensely to the higher rate of complications in children. Moreover, this may be reduced by short hospital stay following surgery. We also advocate early contact with children with cleft, and early surgical intervention in other to prevent some of the major complications encountered in adult patients. PMID:27397954

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

    MedlinePlus

    ... topiramate labels are being updated with the new information describing the increased risk of oral clefts. Q8. Does FDA have post marketing adverse event reports of oral clefts with topiramate? ...

  8. Otologic and Audiologic Outcomes With the Furlow and von Langenbeck With Intravelar Veloplasty Palatoplasties in Unilateral Cleft Lip and Palate

    PubMed Central

    Antonelli, Patrick J.; Jorge, José C.; Feniman, Mariza R.; Piazentin-Penna, Sílvia H.A.; Dutka-Souza, Jeniffer C.R.; Seagle, M. Brent; Williams, William N.; Nackashi, John A.; Boggs, Steve; Graciano, Maria I.G.; Souza, Telma V.; Neto, José S.M.; Garla, Luis A.; Silva, Marcos L.N.; Marques, Ilza L.; Borgo, Hilton C.; Martinelli, Ângela P.M.C.; Shuster, Jonathan J.; Pimentel, Maria C.M.; Zimmermann, Maria C.; Bento-Gonçalves, Cristina G.A.; Kemker, F. Joseph; McGorray, Susan P.; Pegoraro-Krook, Maria I.

    2013-01-01

    Objective Cleft palate increases the risk of chronic middle ear disease and hearing loss. The goal of this report was to determine which of two palate surgeries and which timing of palate surgery were associated with better otologic and audiologic outcomes in children with unilateral cleft lip and palate at 5 to 6 years of age. Design Subjects were randomly assigned to the von Langenbeck with intravelar veloplasty or Furlow palate repair, to palate surgery at 9 to 12 months or 15 to 18 months of age, and to the Spina or Millard lip repair. Setting Centralized, tertiary care craniofacial treatment center. Patients A total of 673 infants with unilateral cleft lip and palate. Interventions Palate and lip were repaired using established techniques. Serial otoscopic and audiometric evaluations were performed. Main Outcome Measures Hearing and otoscopic findings at 5 to 6 years old. Results There were 370 children available for analysis. Hearing and need for tympanostomy tube placement did not differ by palatoplasty, age at palatoplasty, cheiloplasty, or surgeon. Risk of developing cholesteatoma or perforation was higher with Millard cheiloplasty (odds ratio = 5.1, 95% confidence interval = 1.44 to 18.11, p = .012). Type and age at palatoplasty were not significantly associated with either the rate of developing these sequelae or the rate of achieving bilaterally normal hearing and ear examinations. Conclusions Type of palatoplasty did not influence otologic and audiologic outcomes in 5- to 6-year-olds with unilateral cleft lip and palate. The potential influence of lip repair on otologic outcomes warrants further investigation. PMID:20536371

  9. Self-perceptions of romantic appeal in adolescents with a cleft lip and/or palate.

    PubMed

    Feragen, Kristin Billaud; Stock, Nicola Marie; Sharratt, Nicholas David; Kvalem, Ingela Lundin

    2016-09-01

    During adolescence, romantic relationships are a key developmental milestone. Coupled with the increasing salience of appearance and social acceptance, adolescents with an appearance-altering condition may feel particularly vulnerable when it comes to romantic relationships. This study aimed to explore the prevalence of romantic experiences among adolescents with a cleft lip and/or palate (CL/P), and to investigate how these experiences could be related to depressive symptoms and global self-worth. The study included 661 Norwegian adolescents with CL/P, who were compared to a large national sample. The prevalence of romantic relationships was lower among adolescents with CL/P compared to the reference group, although the overall impact on depressive symptoms and global self-worth appeared to be low. This study is one of few to explore the impact of a congenital visible condition on experiences of romantic relationships and provides preliminary insight into a significant, yet complex topic. PMID:27459395

  10. 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

  11. 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

  12. The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate

    PubMed Central

    Han, Hyun Ho; Choi, Eun Jeong; Kim, Ji Min; Shin, Jong Chul

    2016-01-01

    Background The prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P) and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center. Methods The multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation. Results The abortion rate was 28% (3/11). The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91%) reported that they were satisfied with the multidisciplinary management in our center. Conclusions Although a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy. PMID:27019808

  13. 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.

  14. 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

  15. Accelerated Wound Closure In Vitro by Fibroblasts from a Subgroup of Cleft Lip/Palate Patients: Role of Transforming Growth Factor-α

    PubMed Central

    Beyeler, Joël; Schnyder, Isabelle; Katsaros, Christos; Chiquet, Matthias

    2014-01-01

    In a fraction of patients surgically treated for cleft lip/palate, excessive scarring disturbs maxillary growth and dento-alveolar development. Since certain genes are involved in craniofacial morphogenesis as well as tissue repair, a primary defect causing cleft lip/palate could lead to altered wound healing. We performed in vitro wound healing assays with primary lip fibroblasts from 16 cleft lip/palate patients. Nine foreskin fibroblast strains were included for comparison. Cells were grown to confluency and scratch wounds were applied; wound closure was monitored morphometrically over time. Wound closure rate showed highly significant differences between fibroblast strains. Statistically, fibroblast strains from the 25 individuals could be divided into three migratory groups, namely “fast”, “intermediate”, and “slow”. Most cleft lip/palate fibroblasts were distributed between the “fast” (5 strains) and the “intermediate” group (10 strains). These phenotypes were stable over different cell passages from the same individual. Expression of genes involved in cleft lip/palate and wound repair was determined by quantitative PCR. Transforming growth factor-α mRNA was significantly up-regulated in the “fast” group. 5 ng/ml transforming growth factor-α added to the culture medium increased the wound closure rate of cleft lip/palate strains from the “intermediate” migratory group to the level of the “fast”, but had no effect on the latter group. Conversely, antibody to transforming growth factor-α or a specific inhibitor of its receptor most effectively reduced the wound closure rate of “fast” cleft lip/palate strains. Thus, fibroblasts from a distinct subgroup of cleft lip/palate patients exhibit an increased migration rate into wounds in vitro, which is linked to higher transforming growth factor-α expression and attenuated by interfering with its signaling. PMID:25360592

  16. Accelerated wound closure in vitro by fibroblasts from a subgroup of cleft lip/palate patients: role of transforming growth factor-α.

    PubMed

    Beyeler, Joël; Schnyder, Isabelle; Katsaros, Christos; Chiquet, Matthias

    2014-01-01

    In a fraction of patients surgically treated for cleft lip/palate, excessive scarring disturbs maxillary growth and dento-alveolar development. Since certain genes are involved in craniofacial morphogenesis as well as tissue repair, a primary defect causing cleft lip/palate could lead to altered wound healing. We performed in vitro wound healing assays with primary lip fibroblasts from 16 cleft lip/palate patients. Nine foreskin fibroblast strains were included for comparison. Cells were grown to confluency and scratch wounds were applied; wound closure was monitored morphometrically over time. Wound closure rate showed highly significant differences between fibroblast strains. Statistically, fibroblast strains from the 25 individuals could be divided into three migratory groups, namely "fast", "intermediate", and "slow". Most cleft lip/palate fibroblasts were distributed between the "fast" (5 strains) and the "intermediate" group (10 strains). These phenotypes were stable over different cell passages from the same individual. Expression of genes involved in cleft lip/palate and wound repair was determined by quantitative PCR. Transforming growth factor-α mRNA was significantly up-regulated in the "fast" group. 5 ng/ml transforming growth factor-α added to the culture medium increased the wound closure rate of cleft lip/palate strains from the "intermediate" migratory group to the level of the "fast", but had no effect on the latter group. Conversely, antibody to transforming growth factor-α or a specific inhibitor of its receptor most effectively reduced the wound closure rate of "fast" cleft lip/palate strains. Thus, fibroblasts from a distinct subgroup of cleft lip/palate patients exhibit an increased migration rate into wounds in vitro, which is linked to higher transforming growth factor-α expression and attenuated by interfering with its signaling. PMID:25360592

  17. Corneal changes in ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome: case series and literature review.

    PubMed

    Felipe, Anthony F; Abazari, Azin; Hammersmith, Kristin M; Rapuano, Christopher J; Nagra, Parveen K; Peiro, Baltasar Moratal

    2012-10-01

    The aim of this study is to describe the corneal changes in three unrelated patients with ectrodactyly-ectodermal dysplasia-cleft lip and palate (EEC) syndrome and review the literature on the possible etiology and clinical presentation of similar cases. Case 1 is an 18-year-old female with cleft lip and palate, syndactyly, and bilateral corneal pannus superiorly and inferiorly. She was initially diagnosed and treated as herpes simplex virus keratitis. Case 2 is a 3-year-old female born with cleft lip and palate, absent radial digits in both hands, and bilateral lacrimal stenosis. She developed progressive stromal scarring and neovascularization in both eyes. Her cornea perforated after developing infectious ulceration. Case 3 is a 49-year-old male with cleft palate, claw-hand deformities, absent meibomian glands and lacrimal duct, right ankyloblepharon, and a superior wedge-shaped opacity in the left cornea. The clinical findings demonstrated the different spectrum of keratopathy seen in patients with EEC. All patients were treated medically and without any surgical intervention. Limbal stem cell deficiency (LSCD) is presumed to be the cause in all three cases. Corneal changes in EEC can have variable presentation. LSCD seems to be the etiology of such keratopathy. Recurrent infection from lacrimal drainage obstruction and tear film instability are other risk factors for disease severity and progression. PMID:22618129

  18. 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

  19. 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

  20. Iliac Crest Donor Site for Children With Cleft Lip and Palate Undergoing Alveolar Bone Grafting: A Long-term Assessment.

    PubMed

    Wheeler, Jonathan; Sanders, Megan; Loo, Stanley; Moaveni, Zac; Bartlett, Glenn; Keall, Heather; Pinkerton, Mark

    2016-05-01

    The authors aimed to accurately assess the donor site morbidity from iliac crest bone grafts for secondary bone grafting in patients with cleft lip and palate alveolar defects. Fifty patients between 3 months and 10 years following alveolar bone grafting for cleft lip and palate were entered into the study. Two-thirds of patients had no significant concerns about the donor site. The remaining third had some concerns about the appearance of their hips and less than 10% of patients expressing strong agreement with statements about concerns with shape, appearance, and self-consciousness about the iliac crest donor site. Examination findings showed the average length of scar being 5.4 cm and a third of patients having some minor palpable boney irregularities of the iliac crest. The authors found that the alveolar crest donor site is well tolerated by patients long term but has a measurable morbidity long term. PMID:27035602

  1. A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk

    PubMed Central

    2014-01-01

    Background Copy number variants (CNVs) may play an important part in the development of common birth defects such as oral clefts, and individual patients with multiple birth defects (including clefts) have been shown to carry small and large chromosomal deletions. In this paper we investigate de novo deletions defined as DNA segments missing in an oral cleft proband but present in both unaffected parents. We compare de novo deletion frequencies in children of European ancestry with an isolated, non-syndromic oral cleft to frequencies in children of European ancestry from randomly sampled trios. Results We identified a genome-wide significant 62 kilo base (kb) non-coding region on chromosome 7p14.1 where de novo deletions occur more frequently among oral cleft cases than controls. We also observed wider de novo deletions among cleft lip and palate (CLP) cases than seen among cleft palate (CP) and cleft lip (CL) cases. Conclusions This study presents a region where de novo deletions appear to be involved in the etiology of oral clefts, although the underlying biological mechanisms are still unknown. Larger de novo deletions are more likely to interfere with normal craniofacial development and may result in more severe clefts. Study protocol and sample DNA source can severely affect estimates of de novo deletion frequencies. Follow-up studies are needed to further validate these findings and to potentially identify additional structural variants underlying oral clefts. PMID:24528994

  2. A new primary cleft lip repair technique tailored for Asian patients that combines three surgical concepts: Comparison with rotation--advancement and straight-line methods.

    PubMed

    Funayama, Emi; Yamamoto, Yuhei; Furukawa, Hiroshi; Murao, Naoki; Shichinohe, Ryuji; Hayashi, Toshihiko; Oyama, Akihiko

    2016-01-01

    Various techniques have been described for unilateral cleft lip repair. These may be broadly classified into three types of procedure/concept: the straight-line method (SL; Rose-Thompson effect); rotation-advancement (RA; upper-lip Z-plasty); and the triangular flap method (TA; lower-lip Z-plasty). Based on these procedures, cleft lip repair has evolved in recent decades. The cleft lip repair method in our institution has also undergone several changes. However, we have found that further modifications are needed for Asian patients who have wider philtral dimples and columns than Caucasians, while following the principles of the original techniques mentioned above. Here, we have incorporated the advantages of each procedure and propose a refined hybrid operating technique, seeking a more appropriate procedure for Asian patients. To evaluate our new technique, a comparison study was performed to evaluate RA, SL, and our technique. We have used our new technique to treat 137 consecutive cleft lip cases of all types and degrees of severity, with or without a cleft palate, since 2009. In the time since we adopted the hybrid technique, we have observed improved esthetics of the repaired lip. Our technique demonstrated higher glance impression average scores than RA/SL. PMID:26653337

  3. IRF6 polymorphisms in Mexican patients with non-syndromic cleft lip

    PubMed Central

    Ibarra-Arce, Aurora; García-Álvarez, Martín; Cortés-González, Daniel; Ortiz de Zarate-Alarcón, Gabriela; Flores-Peña, Laura; Sánchez-Camacho, Sandra; Arenas-Díaz, Silvia; Romero-Valdovinos, Mirza; Olivo-Díaz, Angélica

    2015-01-01

    Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects; it is a multifactorial disease affecting > 1/1,000 live births in Europe, and its etiology is largely unknown, although it is very likely genetic and environmental factors contribute to this malformation. Orofacial development is a complex process involving many genes and signaling pathways. Mutations in the gene for the interferon regulatory factor 6 (IRF6) cause a hereditary dominant malformation syndrome including CL/P, and polymorphisms are associated with non-syndromic CL/P (MIM 119530). Five SNPs at the locus with high heterozygosity in Caucasian populations were chosen for the present research due to their very strong association with CL/P. A case–parent trio study was performed using 292 samples from Mexico. Association with the rs1319435-C/C genotype (P = 0.02) was found in patients (73) as compared to pseudocontrols (219), while the genotype rs1319435-T/C was related with protection (P = 0.041) in the triad design. Significant over-transmission of the G allele for marker rs2235375 (P = 0.049) was found. Only the TACGT haplotype was diminished in the affected child, either in single (P = 0.0208) or double (P = 0.0208) dose. The pairwise analysis showed rs2235543 and rs2235371 were in strong linkage disequilibrium. These results point to a substantial contribution of IRF6 in the etiology of non-syndromic CL/P in a sample of the Mexican population. PMID:25853057

  4. Nonsyndromic cleft lip and palate: CRISPLD Genes and the Folate Gene Pathway Connection

    PubMed Central

    Chiquet, Brett T.; Henry, Robin; Burt, Amber; Mulliken, John B.; Stal, Samuel; Blanton, Susan H.; Hecht, Jacqueline T.

    2014-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect that has a multifactorial etiology. Despite having substantial genetic liability, less than 15% of the genetic contribution to NSCLP has been delineated. In our efforts to dissect the genetics of NSCLP, we found that variation in the CRISPLD2 (cysteine rich secretory protein LCCL domain containing 2) gene is associated with NSCLP and that the protein is expressed in the developing murine craniofacies. In addition, we found suggestive linkage of NSCLP (LOD>1.0) to the chromosomal region on 8q13.2-21.13 that contains the CRISPLD1 gene. The protein products of both CRISPLD1 and CRISPLD2 contain more cysteine residues than comparably sized proteins. Interestingly, the folic acid pathway produces endogenous cysteines, and variation in genes in this pathway is associated with NSCLP. Based on these observations, we hypothesized that variation in CRISPLD1 contributes to NSCLP and that both CRISPLD genes interact with each other and genes in the folic acid pathway. SNPs in CRISPLD1 were genotyped in our nonHispanic white and Hispanic multiplex and simplex NSCLP families. There was little evidence for a role of variation for CRISPLD1 alone in NSCLP. However, interactions were detected between CRISPLD1/CRISPLD2 SNPs and variation in folate pathway genes. Altered transmission of one CRISPLD1 SNP was detected in the nonHispanic white simplex families. Importantly, interactions were detected between SNPs in CRISPLD1 and CRISPLD2 (15 interactions, 0.0031≤p<0.05). These novel findings suggest that CRISPLD1 plays a role in NSCLP through the interaction with CRISPLD2 and folate pathway genes. PMID:21254358

  5. Columella Lengthening with a Full-Thickness Skin Graft for Secondary Bilateral Cleft Lip and Nose Repair

    PubMed Central

    Lee, Yoon Seok; Shin, Dong Hyeok; Choi, Hyun Gon; Kim, Jee Nam; Lee, Myung Chul; Kim, Soon Heum; Kim, Cheol Keun; Jo, Dong In

    2015-01-01

    Background Various techniques for lengthening short columellae have been used for bilateral cleft nose repair. However, previous methods have not yielded satisfactory results. We performed a full-thickness skin graft to lengthen short columellae during secondary cleft nose repair in adult patients. Methods Ten bilateral cleft lip and nose patients underwent secondary cheiloplasty with open rhinoplasty between July 2008 and August 2014. The patients underwent a full-thickness skin graft on the medial crura to elongate the columella. The average age of the patients at the time of surgery was 22.2 years. Nasal profiles were evaluated before and after the operation using the photogrammetric method. Results The nasal profiles were improved in all patients, and all skin grafts were well taken, with the exception of one patient. Columellar height, nostril height, and columella-lip angle increased, and nasal width decreased significantly. The ratios of columellar height to nasal height, columellar height to nasal width, and nasal height to nasal width increased to a statistically significant extent. Conclusions Columella lengthening with a full-thickness skin graft is a simple and effective method for the repair of severely short columellae in bilateral cleft nose patients. We had satisfactory outcomes, with good color matching and aesthetically pleasing contours. PMID:26618116

  6. Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate

    SciTech Connect

    Feng, Hongshu; Lee, A.; Gasser, D.L.; Sassani, R.; Bartlett, S.P.; Buetow, K.H.; Hecht, J.T.; Malcolm, S.; Winter, R.M.; Vintiner, G.M.

    1994-11-01

    The inheritance of alleles of the transforming growth factor alpha (TGFA) locus has been studied in families affected with cleft lip with or without cleft palate (CL/P), by using the transmission/disequilibrium test described by Spielman and colleagues. Only heterozygous parents with an affected child can be included in this test, but within such families a significantly greater frequency of C2 alleles were transmitted to affected children than would be expected by chance. There was no evidence that the total number of C2 alleles transmitted to affected and unaffected children differed significantly from random segregation. These data provide evidence from within families that a gene for susceptibility to CL/P is in significant linkage disequilibrium with the C2 allele of the TGFA locus. 30 refs., 1 fig., 2 tabs.

  7. 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

  8. Longitudinal study of growth of children with unilateral cleft-lip palate from birth to two years of age

    PubMed Central

    Marques, Ilza L.; Nackashi, John A.; Borgo, Hilton C.; Martinelli, Ângela P. M. C.; Pegoraro-Krook, Maria I.; Williams, William N.; Dutka, Jeniffer C. R.; Seagle, Michael B.; Souza, Telma V.; Garla, Luis A.; Neto, José S. M.; Silva, Marcos L. N.; Graciano, Maria I. G.; Moorhead, Jacquelyn; A Piazentin-Penna, Sílvia H.; Feniman, Mariza R.; Zimmermann, Maria C.; Bento-Gonçalves, Cristina G. A.; Pimentel, Maria C. M.; Boggs, Steve; Jorge, José C.; Antonelli, Patrick J.; Shuster, Jonathan

    2009-01-01

    Objective To study the growth of children with complete unilateral cleft lip and palate (UCLP) from birth to 2 years of age and to construct specific UCLP growth curves. Design Physical growth was a secondary outcome measure of a NIH sponsored longitudinal, prospective clinical trial involving the University of Florida (USA) and the University of São Paulo (Brazil). Patients 627 children with UCLP, nonsyndromic, both genders. Methods Length, weight, and head circumference were prospectively measured for a group of children enrolled in a clinical trial. Median growth curves for the 3 parameters (length, weight, head circumference) were performed and compared to the median for the National Center for Health Statistics (NCHS, 2000) curves. The median values for length, weight, and head circumference at birth, 6, 12, 18 and 24 month of age were plotted against NCHS median values, and statistically compared at birth and 24 months. Setting Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brazil (HRAC-USP). Results At birth, children of both genders with UCLP presented with smaller body dimensions in relation to NCHS median values, but the results suggest a “catch up growth” for length, weight, and head circumference for girls and for weight (to some degree) and head circumference for boys. Conclusions Weight was the most compromised parameter for both genders followed by length and then head circumference. There was no evidence of short statue. This study established growth curves for children with UCLP. PMID:19860503

  9. Longitudinal study of growth of children with unilateral cleft lip and palate: 2 to 10 years of age.

    PubMed

    Marques, Ilza Lazarini; Nackashi, John; Borgo, Hilton Coimbra; Martinelli, Angela Patrícia Menezes Cardoso; de Souza, Luiz; Dutka, Jeniffer de Cássia Rillo; Williams, William N; Pegoraro-Krook, Maria Inês

    2015-03-01

    Objective : To study the growth of children with complete unilateral cleft lip and palate (UCLP) from 2 to 10 years of age and to assess whether growth varied from that of children without UCLP (typical children). Design : Physical growth was one of the outcome measures of a National Institutes of Health-sponsored longitudinal, prospective clinical trial conducted by the University of Florida and the University of São Paulo. Setting : Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC-USP), Bauru, Brazil. Main Outcome Measures : Height and weight were prospectively measured for 360 healthy children with UCLP who were nonsyndromic, belonged to median socioeconomic status, and received health care at HRAC-USP. To compare growth of children with UCLP to that of typical children, growth curves for UCLP were developed and compared with World Health Organization curves for 2006 and 2007, which were used as reference for typical children. Third-degree polynomials were used to explain the relationship of length and weight with age. Confidence limits of 95% were used for the mean curve using the statistic Z ~ N (0,1). Results : Children with UCLP from 2 to 10 years old presented height and weight growth curves similar to those of typical children for both genders. Conclusion : Children with UCLP from 2 to 10 years old presented physical growth similar to that of typical children. PMID:24810484

  10. A panel based assessment of early versus no nasal correction of the cleft lip nose.

    PubMed

    Cussons, P D; Murison, M S; Fernandez, A E; Pigott, R W

    1993-01-01

    There is a need to be able to assess the overall result in a significant series of cases of a method of management of the cleft lip and nose deformity in order to avoid "best case" reporting often used to introduce new techniques. The present study was performed by a panel placing standardised base view photographs in rank order. The photographs were of 10-year-old subjects of whom 15 were normal controls, 22 were from the Rikshospitalet, Oslo, all of whom had no primary nasal correction and 25 from Frenchay Hospital, Bristol, who all had radical primary nasal correction. Ranking was performed for upper nasal perimeter symmetry, nostril outline symmetry and for overall aesthetic appearance. Analysis of the results showed a significant difference between the three groups, with the corrected noses showing better symmetry. Inter and intraobserver correlations were very close. The limitations of a ranking and marking method of panel assessment are discussed, and a computerised method is presented in subsequent papers. PMID:8431745