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Sample records for cleft palate surgery

  1. 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 ...

  2. 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 ...

  3. 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 palatecleft 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

  4. Cleft Palate; A Multidiscipline Approach.

    ERIC Educational Resources Information Center

    Stark, Richard B., Ed.

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

  5. 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 ...

  6. 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 ...

  7. 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 ...

  8. Cleft palate - resources

    MedlinePlus

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

  9. 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 ...

  10. 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. ...

  11. Cleft Palate Foundation

    MedlinePlus

    ... for a list of 2016 funded research projects. Cleft Palate Foundation 1504 East Franklin Street, Suite 102 Chapel ... to order bottles Order CPF publications © Copyright 2014 Cleft Palate Foundation. Website by Mixer Creative Follow us on ...

  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. Spectral Analysis of Hypernasality in Cleft Palate Children: A Pre-Post Surgery Comparison

    PubMed Central

    Narra, Manjunath; Varghese, Sneha Mareen; Deepak, Dessai Teja

    2016-01-01

    Introduction Change in resonance is the most commonly experienced speech problems in children diagnosed with cleft lip and palate. The degree of nasality during normal speech production is maintained by the changes in velopharyngeal port. These variations in speech signal are reported to be successfully captured using acoustical tools like spectral analysis. Aim The present study investigated to note voice low tone to high tone ratio (VLHR) values for phonation samples of individuals with cleft palate before and after surgery. Materials and Methods Thirty children with congenital cleft of palate within 8 to 15 years of age participated in the study. Three trials of sustained vowels (/a/,/i/ and /u/) were recorded at their comfortable pitch and loudness level in a noise free room using a hand held dynamic microphone. Praat software that utilized Hillenbrand algorithm was used to extract the VLHR values for samples recorded before and after recovery from the surgery. Results Statistical analysis revealed significant decrease in VLHR values after surgery in comparison to before the surgery. Analysis of Variance revealed statistical significant difference at 95% confidence level. Conclusion It is concluded that VLHR parameter could be used as an index to measure nasality and can be included in the routine tool assessment protocol. PMID:26894098

  14. 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 ...

  15. Clinical performance of cuffed versus uncuffed preformed endotracheal tube in pediatric patients undergoing cleft palate surgery

    PubMed Central

    Mukhopadhyay, S; Mukhopadhyay, S; Bhattacharya, D; Bandyopadhyay, BK; Mukherjee, M; Ganguly, R

    2016-01-01

    Background: Uncuffed endotracheal tubes are commonly used in children but due to several decade preferred in paediatric oral surgery. Due to lack of conclusive evidences in this regard, we have conducted this study to compare post-operative morbidity following use of cuffed and uncuffed endotracheal tubes in paediatric patients undergoing cleft lip-palate surgery. Methods: This randomised controlled trial was conducted on children aged 2 to 12 years.110 patients were allocated in two parallel groups using computer generated list of random numbers. Post operative extubation stridor, sore throat, time to first oral intake and regaining of normal voice were compared between two groups. Results: The incidence of sore throat was significantly more (P value > 0.005) in patients of uncuffed group compared to cuffed group. The time to first oral intake and time to regain normal voice were significantly earlier in cuffed group compared to the other. Conclusion: With standard care, preformed cuffed ET tube has shown reduced incidence of post operative sore throat. Cuffed group has earlier oral intake and normal voice regain compared to uncuffed group. PMID:27051374

  16. Molecular basis of cleft palates in mice

    PubMed Central

    Funato, Noriko; Nakamura, Masataka; Yanagisawa, Hiromi

    2015-01-01

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

  17. 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 ...

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

    PubMed Central

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

    2012-01-01

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

  19. Clefting of the Alveolus: Emphasizing the Distinction from Cleft Palate.

    PubMed

    Wirtz, Nicholas; Sidman, James; Block, William

    2016-05-01

    Oral clefting is one of the most common significant fetal abnormalities. Cleft lip and cleft palate have drastically different clinical ramifications and management from one another. A cleft of the alveolus (with or without cleft lip) can confuse the diagnostic picture and lead to a false assumption of cleft palate. The cleft alveolus should be viewed on the spectrum of cleft lip rather than be associated with cleft palate. This is made evident by understanding the embryological development of the midface and relevant terminology. Cleft alveolus carries significantly different clinical implications and treatment options than that of cleft palate. Accurately distinguishing cleft alveolus from cleft palate is crucial for appropriate discussions regarding the patient's care. PMID:26906186

  20. CLEFT PALATE. FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

    ERIC Educational Resources Information Center

    RUTHERFORD, DAVID; WESTLAKE, HAROLD

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

  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. 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

  3. 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

  4. 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

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

    PubMed

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

    2008-08-01

    Cleft palate repair leaves full-thickness mucosal defects on the palate. Healing might be improved by implantation of a mucosal substitute. However, the genetic and phenotypic deviations of cleft palate cells may hamper tissue engineering. The aim of this study was to construct mucosal substitutes from cleft palate cells, and to compare these with substitutes from normal palatal cells, and with native palatal mucosa. Biopsies from the palatal mucosa of eight children with cleft palate and eight age-matched control individuals were taken. Three biopsies of both groups were processed for (immuno)histochemistry; 5 were used to culture mucosal substitutes. Histology showed that the substitutes from cleft-palate and non-cleft-palate cells were comparable, but the number of cell layers was less than in native palatal mucosa. All epithelial layers in native palatal mucosa and mucosal substitutes expressed the cytokeratins 5, 10, and 16, and the proliferation marker Ki67. Heparan sulphate and decorin were present in the basal membrane and the underlying connective tissue, respectively. We conclude that mucosal cells from children with cleft palate can regenerate an oral mucosa in vitro. PMID:18650554

  6. Improving Informed Consent for Cleft Palate Repair

    ClinicalTrials.gov

    2015-11-02

    Cleft Palate; Jaw Abnormalities; Maxillofacial Abnormalities; Mouth Abnormalities; Congenital Abnormalities; Jaw Diseases; Musculoskeletal Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Stomatognathic Diseases; Stomatognathic System Abnormalities

  7. Phonological Patterns Observed in Young Children with Cleft Palate.

    ERIC Educational Resources Information Center

    Broen, Patricia A.; And Others

    The study examined the speech production strategies used by 4 young children (30- to 32-months-old) with cleft palate and velopharyngeal inadequacy during the early stages of phonological learning. All the children had had primary palatal surgery and were producing primarily single word utterances with a few 2- and 3-word phrases. Analysis of each…

  8. Space Technology for Palate Surgery

    NASA Technical Reports Server (NTRS)

    1980-01-01

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

  9. Cleft Lip and Palate

    MedlinePlus

    ... from surgery, coping with speech problems, or improving self-esteem. Some teens join support groups or online forums where they can talk to ... Parents MORE ON THIS TOPIC Hearing Impairment Speech Problems ...

  10. Genetics of Cleft Palate and Velopharyngeal Insufficiency

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

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

    2016-01-01

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

  12. 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

  13. Congenital Palatal Fistula Associated with Submucous Cleft Palate

    PubMed Central

    Eshete, Mekonen; Camison, Liliana; Abate, Fikre; Hailu, Taye; Demissie, Yohannes; Mohammed, Ibrahim; Butali, Azeez; Losken, H. Wolfgang

    2016-01-01

    Background: Although cleft lip and cleft palate are among the most common congenital malformations, the presence of an isolated congenital palatal fistula along with a submucous cleft is very rare. This appears as an oval-shaped, full-thickness fenestration in the palatal midline that does not fully extend anteriorly or posteriorly, accompanied by the findings of a submucous cleft. Because of the uncommon nature of this entity, there is controversy about its etiology, diagnosis, and management. Methods: Two cases of children with congenital palatal fistulae and a submucous cleft palate are presented who were treated in different settings by different surgeons. Cases are discussed along with a thorough review of the available literature. Results: Patient 1 presented at 4 years of age with “a hole in the palate” since birth and abnormal speech. His palatal fistula and submucous cleft were repaired with a modified von Langenbeck technique in Ethiopia. At a 2-year follow-up, the palate remained closed, but hypernasal speech persisted. Patient 2 was a 1-year-old presenting with failure to thrive and nasal regurgitation, who underwent a Furlow palatoplasty in the United States with good immediate results. She was unfortunately lost to follow-up. Conclusions: A congenital fenestration of the palate is rare. Reports reveal suboptimal speech at follow-up, despite various types of repair, especially when combined with a submucous cleft. Available literature suggests that repair should not focus on fistula closure only but instead on providing adequate palate length to provide good velopharyngeal function, as in any cleft palate repair. PMID:27014542

  14. 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 ...

  15. 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. ...

  16. 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

  17. 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

  18. Cleft-orthognathic surgery.

    PubMed

    Posnick, Jeffrey C; Ricalde, Pat

    2004-04-01

    For the cleft patient presenting in adolescence with a jaw discrepancy and malocclusion, misinformation and limited available surgical and dental expertise often prevents a favorable facial reconstruction and dental rehabilitation. A major advantage of the modified Le Fort I osteotomy is its ability to simultaneously close cleft dental gap(s), resolve oronasal fistulas, manage skeletal defects, stabilize dentoalveolar segments, and correct jaw deformities. When a thoughtful staging of reconstruction is undertaken, individuals born with cleft lip and palate can reach adolescence after undergoing only a limited number of operations and interventions, without negative attention being drawn to their original malformation. PMID:15145672

  19. Investigations on the palatal rugae pattern in cleft patients. Part I: A morphological analysis.

    PubMed

    Kratzsch, H; Opitz, C

    2000-01-01

    The characteristics of the palatal rugae zone (number of rugae, relief type, posterior limitation) were investigated on the maxillary casts of 44 patients with unilateral cleft lip and palate and 28 patients with bilateral clefts by means of reflex microscopy, a three-dimensional, computer-assisted, touch-free measuring system for the metrical registration and analysis of the parameters directly on the maxillary casts for the segments of the 2 cleft groups. The features "number of palatal rugae" and "relief type" (primary rugae) were determined both before and after surgical repair of the cleft palate. Both segments in unilateral cleft lip and palate and both lateral segments in bilateral clefts most commonly had 4 to 5 palatal rugae. The number of rugae in cleft patients is thus in a range that other authors have reported for non-cleft individuals. Following palatal cleft repair, the rugae counts per segment decreased significantly in patients with unilateral and bilateral cleft lip and palate but the 3rd rugae was never lost after surgery. The relief type identified in unilateral and bilateral cleft lip and palate was the same as in isolated cleft palates and did not differ from that in non-cleft subjects. The posterior limitation of the palatal rugae zone was determined both in a tooth-defined manner and as an absolute linear distance (at all time points). The most frequent tooth-defined posterior limitation of the rugae zone in unilateral and bilateral clefts was the second deciduous molar, which is also the position identified for non-cleft individuals. The linear distance from the tuberosity line to the rugae zone increased in all segments of unilateral and bilateral clefts during the interval up to palatal cleft repair, indicating sagittal maxillary development in the posterior area of the palate. Surgical repair of the cleft palate resulted in a significant shortening of the distance in both segments of the unilateral cleft, most likely due to the

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

    PubMed

    Laub, Donald R

    2015-06-01

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

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

    PubMed Central

    Laub, Donald R.

    2015-01-01

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

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  3. INFLUENCE OF ISOLATED CLEFT PALATE AND PALATOPLASTY ON THE FACE

    PubMed Central

    da Silva, Omar Gabriel; Rosa, Larissa Alves de Albuquerque; Lauris, Rita de Cássia M. Carvalho

    2007-01-01

    Introduction The literature has demonstrated that alterations in craniofacial morphology characterizing individuals with cleft palate are observed in both operated and unoperated patients. Objective This study evaluated the influence of isolated cleft palate and palatoplasty on the face, based on facial analysis. Material and methods Lateral facial photographs of the right side of 85 young adult patients with cleft palate were analyzed, of whom 50 were operated on and 35 had never received any previous surgical treatment. The nasolabial angle and zygomatic projection were used to define the maxillary position in the face. Mandibular positioning was classified as Pattern I, II and III. Results Patients were distributed into 54.12% as Pattern I, 32.94% Pattern II and 12.94% Pattern III. Distribution of facial patterns did not show statistically significant differences between groups (p>0.05). Although palatoplasty did not influence the facial pattern, the zygomatic projection was vulnerable to plastic surgeries. Twenty-eight percent of the patients in the operated group showed zygomatic deficiency, compared to only 8.5% in the unoperated group. Conclusions In patients with isolated cleft palate, palatoplasty may influence negatively the sagittal behavior of the maxilla, according to the zygomatic projection of the face, though without compromising the facial pattern. PMID:19089130

  4. Parental Reactions to Cleft Palate Children.

    ERIC Educational Resources Information Center

    Vanpoelvoorde, Leah; Shaughnessy, Michael F.

    1991-01-01

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

  5. Parental Reactions to Cleft Palate Children.

    ERIC Educational Resources Information Center

    Vanpoelvoorde, Leah

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

  6. [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

  7. 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…

  8. 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

  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. Rehabilitation of Cleft Palate: Parents and Professionals, A Unifying Model

    ERIC Educational Resources Information Center

    Pannbacker, Mary; Schneiderman, Carl

    1977-01-01

    Described are commonalities and differences between parents of children with cleft palate and rehabilitation professionals, and offered are suggestions to increase communication and joint effectiveness. (DB)

  11. 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

  12. 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…

  13. A Model Humanitarian Cleft Mission: 312 Cleft Surgeries in 7 Days

    PubMed Central

    Gill, Nauman Ahmad; Ishaq, Irfan; Ganatra, Muhammad Ashraf; Mahmood, Farrakh; Kashif, Muhammad; Alam, Iftikhar; Chen, Philip Kuo-Ting; Lo, Lun-Jou; Laub, Donald Rudolph

    2015-01-01

    Background: There are many countries in the world where patients with cleft lip and palate cannot get access to specialized cleft care units. Cleft missions play an important role in providing surgical care to the areas of the world with limited resources. This article presents a model of cleft missions that can be adopted in many countries where expertise is available but resources are limited. Through proper utilization of local human resource, this type of mission can be a cost-effective and robust way of treating patients with cleft in countries with approximately 52% of the world’s population. Methods: We present a case series of patients of one of our cleft missions carried out in Khairpur, Pakistan, in March 2014 over a period of 7 days. Specific details concerning the organization of mission, gathering of patients, preparation for surgery, and carrying out surgical procedures in a safe and swift manner are presented. Results: A total of 312 patients were operated on in 7 days. There were 145 patients with cleft lip and 167 patients with cleft palate. There were 187 male and 125 female patients with mean age of 7 years. Contemporary operative techniques were utilized to repair different types of cleft lip and palate. Of 167 patients, only 16 developed fistula. Conclusion: A locoregional cleft team can be more effective to care for the patients with cleft in countries where surgical and other expertise can be utilized by proper organization of cleft missions on a national level. PMID:25878924

  14. Flap Necrosis after Palatoplasty in Patients with Cleft Palate

    PubMed Central

    Rossell-Perry, Percy

    2015-01-01

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

  15. A Glance at Methods for Cleft Palate Repair

    PubMed Central

    Tavakolinejad, Sima; Ebrahimzadeh Bidskan, Alireza; Ashraf, Hami; Hamidi Alamdari, Daryoush

    2014-01-01

    Context: Cleft palate is the second most common birth defect and is considered as a challenge for pediatric plastic surgeons. There is still a general lack of a standard protocol and patients often require multiple surgical interventions during their lifetime along with disappointing results. Evidence Acquisition: PubMed search was undertaken using search terms including 'cleft palate repair', 'palatal cleft closure', 'cleft palate + stem cells', 'cleft palate + plasma rich platelet', 'cleft palate + scaffold', 'palatal tissue engineering', and 'bone tissue engineering'. The found articles were included if they defined a therapeutic strategy and/or assessed a new technique. Results: We reported a summary of the key-points concerning cleft palate development, the genes involving this defect, current therapeutic strategies, recently novel aspects, and future advances in treatments for easy and fast understanding of the concepts, rather than a systematic review. In addition, the results were integrated with our recent experience. Conclusions: Tissue engineering may open a new window in cleft palate reconstruction. Stem cells and growth factors play key roles in this field. PMID:25593724

  16. Abnormal Patterns of Tongue-Palate Contact in the Speech of Individuals with Cleft Palate

    ERIC Educational Resources Information Center

    Gibbon, Fiona E.

    2004-01-01

    Individuals with cleft palate, even those with adequate velopharyngeal function, are at high risk for disordered lingual articulation. This article attempts to summarize current knowledge of abnormal tongue-palate contact patterns derived from electropalatographic (EPG) data in speakers with cleft palate. These data, which have been reported in 23…

  17. Introduction of "Papazian Pusher: " A Modified-Design Knot Pusher for Surgical Repair of Cleft Palates.

    PubMed

    Papazian, Nazareth J; Chahine, Fadl; Atiyeh, Bishara; Deeba, Samer; Zgheib, Elias; Abu-Sittah, Ghassan

    2015-09-01

    Tying sutures is an integral aspect of any surgery and reliable instruments are essential for hassle-free procedures including craniofacial surgeries. Knot pushers have been widely known for their application in various laparoscopic, arthroscopic, and anal surgeries. The literature reveals numerous articles pertaining to knot pushers, as well as improvements on existing designs. Nevertheless, no application of knot pushers in the surgical repair of cleft palates has been described. We describe a new knot pusher "Papazian Pusher" (PP) finely designed for application in oral surgeries in general and repair of cleft palates in particular. The instrument was used satisfactorily in repair of cleft palate surgeries and no complications were encountered. The PP was found, overall, to be easy to use, and helps in performing faster, stronger, smooth, and secure knots. PMID:26355980

  18. COMPREHENSIVE EVALUATIVE TECHNIQUES FOR THE CHILD WITH A CLEFT PALATE.

    ERIC Educational Resources Information Center

    BENSEN, JACK F.; WHITE, FRAZER D.

    A MULTIDISCIPLINARY APPROACH TO CHILDREN WITH CLEFT PALATES IS DESCRIBED. THE SOUTH FLORIDA CLEFT PALATE CLINIC, REPRESENTING NINE PROFESSIONAL SPECIALTIES, MEETS WEEKLY TO SEE SIX OR SEVEN CASES. SPEECH PERFORMANCE IS RECORDED ON SIX DIAGNOSTIC, DATA COLLECTING FORMS WHICH PROVIDE A BASIS FOR RECORDING CLINICAL JUDGMENTS. PROGNOSIS AND…

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

    ERIC Educational Resources Information Center

    Whitehill, Tara; Chau, Cynthia

    2004-01-01

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

  20. Early Speech Production of Children with Cleft Palate.

    ERIC Educational Resources Information Center

    Estrem, Theresa; Broen, Patricia A.

    1989-01-01

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

  1. Midface fracture in an unoperated adult patient with cleft palate

    PubMed Central

    Pathak, Sanyog; Baliga, Shridhar; Kotrashetti, Sharadaindu Mahadevappa; Pillai, Ajay

    2014-01-01

    In western countries, it is hard to find an unoperated cleft palate due to better healthcare services and awareness. Here, we present an unoperated adult case of cleft palate that had midfacial fractures following a road traffic accident. The patient's cleft lip was repaired when he was 2 years old but the palate was not operated because of poor follow-up. We would like to share the difficulties encountered in diagnosis and treatment planning for this rare kind of trauma case. After routine investigations, a palatal acrylic splint was constructed for fixation and an acceptable degree of function and aesthetics was achieved postoperatively. PMID:25150231

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

    PubMed

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

    2011-07-01

    Although cleft palate anomaly is frequent, the criterion standards in surgical treatment have not been determined yet. There are a few techniques described for cleft palate repair owing to the limited tissue in the palatal mucosa, the rigid structure of the palatal mucosa, and the limited vascularity of the hard palate. In this study, a novel cleft palate repair technique based on separating the soft palate from the hard palate as a musculomucosal flap and using it as a rotation flap has been described. The operation is evaluated individually for each anomaly because variations occur in the surgical technique according to the extension of the cleft toward the teeth in the palate. This operation was performed on a total of 28 patients (17 girls and 11 boys) aged between 1.5 and 16 years and presented to our clinic. Patients were assessed for speech analysis outcomes, tympanogram values, hearing functions, magnitude of palatal lengthening during the operation, and rate of fistulae. Statistically significant differences in values of the speech analysis and the audiometric assessment were determined between before and 6 months after surgery. Complete recovery of otitis was observed 1 month after surgery without another treatment in 9 (42.8%) of 21 patients who were detected to have serous otitis media preoperatively. Tension-free closure, lower risk of fistula, good restoration of velopharyngeal functions, ability to be performed on all types of cleft palate, ability to provide a good intraoperative exposure, and being a single stage seem to be the most important advantages of this technique. PMID:21772216

  3. 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

  4. Postoperative Speech Outcomes and Complications in Submucous Cleft Palate Patients

    PubMed Central

    Park, Tae Seo; Nam, Su Bong; Kang, Kyung Dong; Sung, Ji Yoon

    2016-01-01

    Background The postoperative speech outcomes of submucous cleft palate (SMCP) surgery are known to be poorer than those of other types of cleft palate. We attempted to objectively characterize the postoperative complications and speech outcomes of the surgical treatment of SMCP through a comparison with the outcomes of incomplete cleft palate (ICP). Methods This study included 53 SMCP patients and 285 ICP patients who underwent surgical repair from 1998 to 2015. The average age of the patients at the time of surgery was 3.9±1.9 years for the SMCP patients and 1.3±0.9 years for the ICP patients. A retrospective analysis was performed of the complications, the frequency of subsequent surgical correction for velopharyngeal dysfunction (VPD), and speech outcomes. Results In both the SMCP and ICP patients, no cases of respiratory difficulty, bleeding, or wound disruption were noted. Delayed wound healing and fistula occurred in 18.9% and 5.7% of the SMCP patients and in 14% and 3.2% of the ICP patients, respectively. However, no statistically significant difference in either delayed wound healing or fistula occurrence was observed between the two groups. The rate of surgical correction for VPD in the SMCP group was higher than in the ICP group. In the subset of 26 SMCP patients and 62 ICP patients who underwent speech evaluation, the median speech score value was 58.8 in the SMCP group and 66 in the ICP group, which was a statistically significant difference. Conclusions SMCP and ICP were found to have similar complication rates, but SMCP had significantly worse speech outcomes. PMID:27218023

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

    ERIC Educational Resources Information Center

    Lencione, Ruth M., Ed.

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

  6. 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

  7. 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

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

    PubMed Central

    George, Lovya; Jain, Sunil K.

    2015-01-01

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

  9. 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

  10. 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

  11. 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

  12. 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

  13. Computational Embryology and Predictive Toxicology of Cleft Palate

    EPA Science Inventory

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

  14. 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

  15. 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…

  16. 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 ...

  17. 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

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

    PubMed

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

    2014-01-01

    A child born with cleft palate may experience difficulties while feeding. Early surgical treatment may need to be postponed until certain age and weight gain of the infant. The case presented here is of a 1-month-old neonate born with cleft palate, assisted with a new feeding appliance made with ethylene vinyl acetate using pressure molding technique to aid in proper feeding. The patient's weight and health significantly improved after the insertion of obturator. The advantages of this material included being lightweight, moldability, good palatal fit and decreased soft tissue injury. PMID:25231044

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  20. 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

  1. Dislocated Tongue Muscle Attachment and Cleft Palate Formation.

    PubMed

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

    2016-04-01

    In Pierre Robin sequence, a retracted tongue due to micrognathia is thought to physically obstruct palatal shelf elevation and thereby cause cleft palate. However, micrognathia is not always associated with palatal clefting. Here, by using the Bmp7-null mouse model presenting with cleft palate and severe micrognathia, we provide the first causative mechanism linking the two. In wild-type embryos, the genioglossus muscle, which mediates tongue protrusion, originates from the rostral process of Meckel's cartilage and later from the mandibular symphysis, with 2 tendons positive for Scleraxis messenger RNA. In E13.5 Bmp7-null embryos, a rostral process failed to form, and a mandibular symphysis was absent at E17.5. Consequently, the genioglossus muscle fibers were diverted toward the lingual surface of Meckel's cartilage and mandibles, where they attached in an aponeurosis that ectopically expressed Scleraxis. The deflection of genioglossus fibers from the anterior-posterior toward the medial-lateral axis alters their direction of contraction and necessarily compromises tongue protrusion. Since this muscle abnormality precedes palatal shelf elevation, it is likely to contribute to clefting. In contrast, embryos with a cranial mesenchyme-specific deletion of Bmp7 (Bmp7:Wnt1-Cre) exhibited some degree of micrognathia but no cleft palate. In these embryos, a rostral process was present, indicating that mesenchyme-derived Bmp7 is dispensable for its formation. Moreover, the genioglossus appeared normal in Bmp7:Wnt1-Cre embryos, further supporting a role of aberrant tongue muscle attachment in palatal clefting. We thus propose that in Pierre Robin sequence, palatal shelf elevation is not impaired simply by physical obstruction by the tongue but by a specific developmental defect that leads to functional changes in tongue movements. PMID:26701347

  2. 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

  3. 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

  4. 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

  5. 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

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

    PubMed

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

    1976-07-01

    A new lever-action expansion appliance is described which is designed specifically for use in infants with cleft lip and palate. An extraoral control knob allows for easy activation, while the important anterior cleft areas are left clear for premaxillary repositioning and clinical assessment. Activation is registered by a positive clicking sound. Rapid expansion is made possible by the design of the appliance which is retained by stainless steel pins. PMID:780004

  7. 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

  8. TCDD disrupts posterior palatogenesis and causes cleft palate.

    PubMed

    Yamada, Tomohiro; Hirata, Azumi; Sasabe, Eri; Yoshimura, Tomohide; Ohno, Seiji; Kitamura, Naoya; Yamamoto, Tetsuya

    2014-01-01

    Dioxins (e.g. 2,3,7,8-tetrachlorodibenzo-p-dioxin; TCDD) cause cleft palate at a high rate. A post-fusional split may contribute to the pathogenesis, and tissue fragility may be a concern. The objective of this study was to investigate the effects of TCDD on the palatal epithelium, bone and muscle, which contribute to tissue integrity. ICR mice (10-12 weeks old) were used. TCDD was administered on E12.5 at 40 mg/kg. Immunohistochemical staining for AhR, ER-α, laminin, collagen IV, osteopontin, Runx2, MyoD, and desmin were performed. Furthermore, western blot analysis for osteopontin, Runx2, MyoD, and desmin were performed to evaluate protein expression in the palatal tissue. Immunohistologically, there was little difference in the collagen IV and laminin localization in the palatal epithelium between control versus TCDD-treated mice. Runx2 and osteopontin immunoreactivity decreased in the TCDD-treated palatal bone, and MyoD and desmin decreased in the TCDD-treated palatal muscle. AhR and ER-α immunoreactivity were localized to the normal palatal bone, but ER-α was diminished in the TCDD-treated palate. On western blot analysis, Runx2, MyoD, and desmin were all downregulated in the TCDD-treated palate. TCDD may suppress palatal osteogenesis and myogenesis via AhR, and cause cleft palates via a post-fusional split mechanism, in addition to a failure of palatal fusion. PMID:23602632

  9. Contractile Properties of Single Permeabilized Muscle Fibers from Congenital Cleft Palates and Normal Palates of Spanish Goats

    PubMed Central

    Hanes, Michael C.; Weinzweig, Jeffrey; Kuzon, William M.; Panter, Kip E.; Buchman, Steven R.; Faulkner, John A.; Yu, Deborah; Cederna, Paul S.; Larkin, Lisa M.

    2009-01-01

    Background Analysis of the composition of muscle fibers constituent to a cleft palate could provide significant insight into the cause of velopharyngeal inadequacy. The authors hypothesized that levator veli palatini muscle dysfunction inherent to cleft palates could affect the timing and outcome of cleft palate repair. Methods Single, permeabilized muscle fibers from levator veli palatini muscles of three normal (n = 19 fibers) and three chemically induced congenital cleft palates (n = 21 fibers) of 14-month-old goats were isolated, and contractile properties were evaluated. The maximum isometric force and rate constants of tension redevelopment (ktr) were measured, and the specific force and normalized power were calculated for each fiber. Results The ktr measures indicate that cleft fibers are predominantly fast-fatigable; normal fibers are slow fatigue-resistant: after a 10-minute isometric contraction, fibers from cleft palates had a loss of force 16 percent greater than that from normal palates (p = 0.0001). The cross-sectional areas of the fibers from cleft palates (2750 ± 209 μm2) were greater (p = 0.05) than those from normal palates (2226 ± 143 μm2). Specific forces did not differ between the two groups. Maximum normalized power of fibers from cleft palates (11.05 ± 1.82 W/l) was greater (p = 0.0001) than fibers from normal palates (1.60 ± 0.12 W/l). Conclusions There are clear physiologic differences in single muscle fibers from cleft palates and normal palates: cleft palate fibers are physiologically fast, have greater fatigability, and have greater power production. Detection of functional and/or fiber type differences in muscles of cleft palates may provide preoperative identification of a patient's susceptibility to velopharyngeal inadequacy and permit early surgical intervention to correct this clinical condition. PMID:17440342

  10. Speech Analyses of Four Children with Repaired Cleft Palates.

    ERIC Educational Resources Information Center

    Powers, Gene R.; And Others

    1990-01-01

    Spontaneous speech samples were collected from four three-year olds with surgically repaired cleft palates. Analyses showed that subjects were similar to one another with respect to their phonetic inventories but differed considerably in the frequency and types of phonological processes used. (Author/JDD)

  11. Prevention of Communication Problems Associated with Cleft Palate.

    ERIC Educational Resources Information Center

    Pannbacker, Mary

    1988-01-01

    The paper reviews principles of preventative intervention and their application to communication problems associated with cleft palate. Ten specific suggestions (such as continuing professional education, identification of adenoidal atrophy, and prompt referral for secondary management) and activities are described. (Author/DB)

  12. Observations on Hearing Levels of Preschool Cleft-Palate Children

    ERIC Educational Resources Information Center

    Harrison, Robert J.; Philips, Betty Jane

    1971-01-01

    Pure-tone audiometry performed monthly on nine preschool cleft palate children showed the incidence of hearing loss ranging from 25 to 71 percent from month to month, with all children experiencing a significant hearing loss at some time. (Author/KW)

  13. Helping the Child with a Cleft Palate in Your Classroom.

    ERIC Educational Resources Information Center

    Moran, Michael J.; Pentz, Arthur L.

    1995-01-01

    Guidelines for teachers of a student with a cleft palate include understand the physical problem; know what kind of speech problem to expect; be alert to the possibility of language-based learning difficulties; watch for signs of hearing loss; be alert to socialization problems; help the student make up work; and avoid self-fulfilling prophecies.…

  14. A Study of Cleft Palate Speakers with Marginal Velopharyngeal Competence.

    ERIC Educational Resources Information Center

    Hardin, M. A.; And Others

    1986-01-01

    The study examined a previously hypothesized model for a subgroup of cleft palate speakers with marginal velopharyngeal competence during speech. Evaluation of 52 5- and 6-year-olds with appropriate lateral X-ray results indicated that most met fewer than three of the other five criteria required by the model. (Author/DB)

  15. Cleft Palate Repair Using a Double Opposing Z-Plasty.

    PubMed

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

    2016-07-01

    Cleft palate is a common congenital defect with several described surgical repairs. The most successful treatment modality remains a controversy. The goals of repair focus on achievement of normal speech and optimizing velopharyngeal function while minimizing both fistula formation and facial growth restriction. In this video, the authors demonstrate use of the double opposing Z-plasty technique in the repair of a Veau II type cleft palate. The video demonstrates the marking, incisions, dissection, and repair of the cleft. It also examines the use of von Langenbeck-type relaxing incisions and demonstrates a specific approach to the repair of this particular cleft. The authors believe that the Furlow double opposing Z-plasty with the von Langenbeck relaxing incision can provide the best postoperative outcome by combining the benefits of each individual operation. The Z-plasty technique works to correct the aberrant muscle of the soft palate while increasing the length of the palate. The authors believe that this results in better velopharyngeal function. PMID:27315321

  16. Prosthodontic treatment of the edentulous adult cleft palate patient.

    PubMed

    Sykes, Leanne M

    2003-03-01

    Clefts of the upper lip and plate are relatively common, yet dental treatment of these patients is still very poor and many grow up suffering dental neglect. Dental practitioners should become involved in the treatment team as dental needs are present from birth to death. Adult cleft patients often need tooth replacement with obturation of any residual clefts. They are best treated with tooth-supported removable appliances including partial and complete overdentures, thus preservation of their natural dentition is desirable. Edentulous cleft palate patients present with restorative difficulties due to their compromised maxillary arches as well as the presence of scar tissue in their palates and lips. An outline of these complications and guidelines for their treatment is illustrated in the form of three case reports from members of one family all presenting with varying cleft lip and palate defects. This article highlights the need for dental students to be exposed to dentally compromised patients so that they will feel confident enough to treat them in private practice. PMID:12800267

  17. [Cleft rhinoplasty, from primary to secondary surgery].

    PubMed

    Talmant, Jean-Claude; Talmant, Jean-Christian

    2014-12-01

    Despite fifty years of statistics, congresses, publications, the cleft nose remains an enigma to the great majority of cleft specialists. Most of the published papers give recipes to camouflage the cleft deformity, very few are concerned by the functional anatomy and its relation with facial growth. The complexity of the matter, the results frequently disappointing, the lack of awareness of the necessity of early nasal breathing, and the academic condemnation of any imperfect attempt to correct the nose at the time of the first operation have led to resignation. For the last forty years, we have been involved in a careful and obstinate research about the early correction of the cleft nose deformity. We wish to present our conclusions in this chapter with at least 17 years of follow-up. They are as following: in cleft patients the nasal cartilages are only deformed. We can achieve sub periosteal and sub perichondrial dissections by 6 months of age without being harmful for facial and nasal growth. Repositioning accurately the nasal structures is enough if we are able to control the healing process and prevent endonasal wound contraction. We have not to do any compromise and favor one function with regard to the others, nasal ventilation being the most important for a good facial growth. In a word, nasal pediatric surgery is necessary at the time of the first operation from 6 months of age and should be carried on with a double demand, aesthetic and functional. To achieve this goal, we must have a sound knowledge of the cleft nose deformity, of the adequate surgical techniques and of the logic chronology to reach the best result. The nose repair cannot be limited to the nasal cartilages. The whole nasal structure is concerned especially its bony framework, the width of which at the level of the piriform orifice and the nasal floor depends on the outcomes of any surgical step that it would relate to the lip, palate or alveolar closure. Interaction of all these factors

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

    PubMed

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

    2016-01-01

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

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

    PubMed Central

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

    2016-01-01

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

  20. 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

  1. 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

  2. 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

  3. 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…

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

    PubMed Central

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

    2016-01-01

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

  5. 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

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

    PubMed Central

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

    2015-01-01

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

  7. 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

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  9. 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)

  10. 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

  11. 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

  12. Mid-face osteotomy in the adolescent cleft palate patient.

    PubMed

    Fitzpatrick, B

    1977-10-01

    Retrognathia or retrusion of the maxilla and mid-face is present in about one-third of treated cleft palate patients. Surgical repositioning of either the dental segments, or the entire mid-face into a forward position, can greatly enhance appearance and at the same time provide for a more functional occlusion. Some surgical aspects of this work are presented together with an evaluation of soft tissue change. PMID:277152

  13. 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

  14. [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

  15. Receptor-dependent mechanisms of glucocorticoid and dioxin-induced cleft palate

    SciTech Connect

    Pratt, R.M.

    1985-09-01

    Glucocorticoids (triamcinolone) and dioxins (TCDD) are highly specific teratogens in the mouse, in that cleft palate is the major malformation observed. Glucocorticoids and TCDD both readily cross the yolk sac and placenta and appear in the developing secondary palate. Structure-activity relationships for glucocorticoid- and TCDD-induced cleft palate suggest a receptor involvement. Receptors for glucocorticoids and TCDD are present in the palate and their levels in various mouse strains are highly correlated with their sensitivity to cleft palate induction. Receptors for glucocorticoids appear to be more prevalent in the palatal mesenchymal cells whereas those for TCDD are probably located in the palatal epithelial cells. Glucocorticoids exert their teratogenic effect on the palate by inhibiting the growth of the palatal mesenchymal cells whereas TCDD alters the terminal cell differentiation of the media palatal epithelial cells. 71 references.

  16. 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

  17. 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

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

    PubMed

    Srzentić, Mladen; Handzić, Jadranka; Trotić, Robert

    2012-09-01

    Physiologic and developmental role of mastoid pneumatisation in children with otitis media with effusion (OME) is still controversial. For measuring mastoid pneumatisation and examine developmental characteristics, we used children with orofacial malformation of high risk for long term negative pressure in the middle ear and are expected to have lower rate of size and growth of pneumatisation. Mastoid were measured on Schuller's mastoid X-ray pictures planimetrically in study group of 146 children with bilateral (BCLP), unilateral (UCLP) and isolated (ICP) cleft palate, and control group of non-cleft 52 children, both groups with confirmed otitis media with effusion and no previous otological surgery. The lowest pneumatisation found in BCLE, BCLP and UCLP showed no growth of mastoid with age and lower mastoid size than OME controls. ICP is the only cleft type with growth of mastoid with aging. OME patients has the highest size of mastoid and growth rate with aging. PMID:23213949

  19. 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

  20. 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…

  1. 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

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

    PubMed

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

    2016-01-01

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

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

    PubMed Central

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

    2016-01-01

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

  4. Velopharyngeal Insufficiency Rates After Delayed Cleft Palate Repair: Lessons Learned From Internationally Adopted Patients.

    PubMed

    Follmar, Keith E; Yuan, Nance; Pendleton, Courtney S; Dorafshar, Amir H; Kolk, Craig Vander; Redett, Richard J

    2015-09-01

    Most surgeons recommend cleft palate repair between 6 and 12 months of age. Internationally adopted patients often undergo delayed repair due to social circumstances. There are few outcomes studies on this population. We conducted a 13-year retrospective review of all patients undergoing primary cleft palate repair at a single tertiary-care academic medical center between 1993 and 2006. The primary outcome was velopharyngeal insufficiency, defined as the recommendation for corrective surgery after multiple formal speech assessments. Two hundred one patients (102 males and 99 females) were identified. One hundred eighty-three repairs were performed before 18 months of age (standard repair group). Eighteen repairs were performed after 18 months of age (delayed repair group), with international adoption being a circumstance in 16 cases. The delayed and standard repair groups were similar with regard to sex, presence of craniofacial syndrome, Veau class, cleft size and laterality, type of repair, and operating surgeon. Mean follow-up was 9.3 years, with minimum follow-up of 5.0 years. Six (33%) of 18 patients in the delayed repair group developed velopharyngeal insufficiency compared to 23 (13%) of 183 in the standard repair group (P = 0.03 by Fisher exact test). These data demonstrate that internationally adopted patients undergoing delayed palate repair suffer especially poor speech outcomes. Physiologic differences in patients undergoing late repair, as well as social factors including adaptation to a new language and culture, may be factors. Early repair should be performed when possible. PMID:25046662

  5. Submucous cleft palate: outcomes after primary repair with repositioning of the levator muscle in 51 consecutive patients.

    PubMed

    Smyth, A G

    2016-06-01

    I report the incidence of hypernasal resonance, nasal emission, and fistula after intravelar surgery with retropositioning of the levator muscle by a single surgeon in a consecutive series of 51 patients who presented with symptomatic submucous cleft palate. Intravelar veloplasty with repositioning of the levator muscle was highly effective in that 37/51 patients (73%) achieved either normal or mild and inconsistent resonance (p<0.0001), and 39 (77%) normal or mild and inconsistent nasal emissions (p<0.0001). The fistula rate was 6% (n=3). Both the clinical grade of submucous cleft palate and the presence of a syndrome correlated directly with changes in hypernasality, whereas the age of the patient and the degree of hypernasality at presentation did not. Non-syndromic patients with clinical grade III and II submucous cleft palates responded well to intravelar surgery with repositioning of the levator muscle, and routine preoperative videofluoroscopy is not recommended. I recommend intravelar surgery with repositioning of the levator muscle routinely for all non-syndromic patients who present with grade III or II submucous cleft palate and velopharyngeal insufficiency. PMID:26992275

  6. 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

  7. Closure of huge palatal fistula in an adult patient with isolated cleft palate: a technical note.

    PubMed

    Rahpeyma, Amin; Khajehahmadi, Saeedeh

    2015-02-01

    Closure of huge palatal fistula surrounded by fully erupted permanent dentition in the adult patients with cleft is a challenge. Posteriorly based buccinator myomucosal flap is a neurovascular pedicled flap, with inherent nature of thin thickness, saliva secretion, and axial pattern blood supply. Vicinity of donor site to the palate and low donor-site morbidity are the other advantages. It is an ideal choice in such situation. In this article, the details of surgical technique and the effectiveness of this method are presented. PMID:25750845

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

    ERIC Educational Resources Information Center

    Zajac, David J.

    2013-01-01

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

  9. Effects of Listening Instructions and Severity of Cleft Palate Speech on Listeners. Final Report.

    ERIC Educational Resources Information Center

    Shames, George H.; And Others

    Mothers of cleft and noncleft palate children (C- and non C-mothers) listened to a reading by a cleft palate child of a passage containing specified combinations of nasality and intelligibility. Groups were either uninstructed or instructed to listed to the content or the manner of speech; they assessed the nasality and intelligibility of the…

  10. Vocal Development of 9-Month-Old Babies with Cleft Palate.

    ERIC Educational Resources Information Center

    Chapman, Kathy L.; Hardin-Jones, Mary; Schulte, Julie; Halter, Kelli Ann

    2001-01-01

    This study compared the prelinguistic vocal development of 30 9- month-old babies with unrepaired cleft palate and age-matched peers (N=15). Fewer of the babies with cleft palate had reached the canonical babbling stage (57 percent versus 93 percent) and had smaller consonant inventories. However, syllable types and length and number of…

  11. Perception of Place of Articulation by Children with Cleft Palate and Posterior Placement.

    ERIC Educational Resources Information Center

    Whitehill, Tara L.; Francis, Alexander L.; Ching, Christine K-Y.

    2003-01-01

    A study examined if 10 children (ages 4-12) with repaired cleft palate who demonstrate posterior placement of alveolar targets differed from 10 children with cleft palate without such error patterns, and from 10 controls in the perception of alveolar targets. Children with posterior placement appeared unable to distinguish alveolar targets.…

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

    EPA Science Inventory

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

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

  13. The Interrelationships between Ratings of Speech and Facial Acceptability in Persons with Cleft Palate.

    ERIC Educational Resources Information Center

    Sinko, Garnet R.; Hedrick, Dona L.

    1982-01-01

    Thirty untrained young adult observers rated the speech and facial acceptablity of 20 speakers with cleft palate. The observers were reliable in rating both speech and facial acceptability. Judgments of facial acceptability were generally more positive, suggesting that speech is generally judged more negatively in speakers with cleft palate.…

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

    ERIC Educational Resources Information Center

    Kalland, Mirjam

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

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

    ERIC Educational Resources Information Center

    Gilbert, Harvey R.; Ferrand, Carole T.

    1987-01-01

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

  16. Acquisition of Linguistic and Cognitive Skills by Children with Cleft Palate.

    ERIC Educational Resources Information Center

    Broen, Patricia A.; Devers, Monica C.; Doyle, Shirley S.; Prouty, Jo McCauley; Moller, Karlind T.

    1998-01-01

    This study compared cognitive and linguistic development of young children with (N=28) and without (N=29) cleft palate. Children with cleft palate, although well within the normal range, performed significantly below the control group on cognitive and linguistic tests. Cognitive differences were linguistic in nature and were related to hearing…

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

    PubMed Central

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

    2015-01-01

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

  18. Cleft Palate induced by Sulfur Mustard in mice fetus

    PubMed Central

    Hassanzadeh-Nazarabadi, Mohammad; Sanjarmoosavi, Nasrin; Sanjarmoosavi, Naser; Shekouhi, Sahar

    2012-01-01

    Sulfur Mustard (SM) is a chemical warfare agent which was widely used in the World War I and more recently during Gulf war in the early 1980s'. SM is a strong alkylating agent with known mutagenic and carcinogenic effects; but only few studies have been published on its teratogenicity. Since SM has been widely used as a chemical weapon by the Iraqi regime against the Iranian soldiers as well as the civilian population particularly pregnant women in the border area; therefore, the investigation of SM adverse effects on cleft malformations which is one of the most frequent congenital anomalies is considered in this study. An experimental work has been carried out in embryopathy in mouse with intraperitoneal injection of 0.75 and 1.5 mg/kg SM at different periods of gestation. Cleft lip and palate were examined by stereomicroscopy. Current data demonstrate that exposure with SM on the 11th day of gestation can increase the incidence of cleft defects in comparison with control group (P<0.001). These results also show that SM treatment in GD 11 and 13 can lead to more anomalies compared with GD 14 (P<0.001). They also show that the teratogenic effects of SM are restrictively under the influence of the threshold dose and time of gestation. The present results suggest that exposure to sufficient doses of SM on critical days of gestation may increase the risk of congenital cleft malformations. PMID:24551757

  19. How various surgical protocols of the unilateral cleft lip and palate influence the facial growth and possible orthodontic problems? Which is the best timing of lip, palate and alveolus repair? literature review.

    PubMed

    Farronato, Giampietro; Kairyte, Laima; Giannini, Lucia; Galbiati, Guido; Maspero, Cinzia

    2014-01-01

    OBJECTIVES. Cleft lip palate is congenital growth disease with unknown etiology, probably linked to both genetically and external causes. The aim of this work consists in presenting the effects of these diseases on cranio facial growth and the surgical protocols described in literature. MATERIALS AND METHODS. The literature review articles conducted by Medline ranged from 1998 to 2011 have been selected. The key words of the research were "cleft lip palate", "cleft lip palate facial growth", "cleft lip palate surgery". The inclusion criteria were articles that analyzed surgical protocols and the growth of unilateral lip and palate clefts, the timing repair of lip, palate and alveolus. We excluded case reports, studies without control group in the sample and the other types of publication as thesis or conference presentation. 60 articles had the selection criteria of the research. RESULTS. The cleft lip and palate is one of the most common birth defects that needs long rehabilitation between birth and adulthood. Several authors have presented surgical protocols and timing. The effects of these diseases on cranio facial growth and the importance of the early intervention have been described. CONCLUSIONS. The review describes the main surgical protocols and treatment strategies of the unilateral lip and palate clefts. The review discusses how surgery effects the midfacial skeletal growth. Studies agree that the palate repair is the main cause of the maxilla growth disturbances. About the timing of palate repair in the unilateral clefts it can be concluded that most studies found no difference between one or two stages palate repair techniques for the midfacial growth. Also from the research, studies agree that delayed hard palate repair has more positive effects on maxillary growth than that of early hard palate repair. Nevertheless good results, delayed hard palate repair technique is abandoned by many hospital centres because of worse speech outcome. The best

  20. The Impact of Early Intervention on Speech and Lexical Development for Toddlers with Cleft Palate: A Retrospective Look at Outcome

    ERIC Educational Resources Information Center

    Hardin-Jones, Mary; Chapman, Kathy L.

    2008-01-01

    Purpose: The purpose of the present investigation was to examine the impact of early intervention on speech and lexical measures for toddlers with cleft palate. Method: Speech measures of ten 27-month-old toddlers with cleft palate who had been referred for therapy at 17 months of age were compared to those of 10 toddlers with cleft palate who had…

  1. 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

  2. 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

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

    PubMed Central

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

    2011-01-01

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

  4. 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

  5. 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

  6. 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

  7. Constitutively active mutation of ACVR1 in oral epithelium causes submucous cleft palate in mice.

    PubMed

    Noda, Kazuo; Mishina, Yuji; Komatsu, Yoshihiro

    2016-07-15

    Cleft palate is among the most common human birth defects. Submucous cleft palate (SMCP) is a subgroup of cleft palate, which may be as common as overt cleft palate. Despite the high frequency of SMCP in humans, only recently have several animal models of SMCP begun to provide insight into the mechanisms by which SMCP develops. In this study, we show that enhanced BMP signaling through constitutively active ACVR1 in palatal epithelium causes submucous cleft palate in mice. In these mutant mice, the fusion of both palatal mesenchyme in hard palate, and muscles in soft palate were hampered by epithelial tissue. During palatal fusion, enhanced SMAD-dependent BMP signaling impaired cell death and altered cell proliferation rate in medial edge epithelium (MEE), and resulted in MEE persistence. At the molecular level, downregulation of ΔNp63, which is crucial for normal palatal fusion, in MEE cells was impaired, leading to a reduction in caspase-3 activation. Our study provides a new insight into the etiology of SMCP caused by augmented BMP signaling. PMID:26116174

  8. 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

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

    PubMed Central

    2016-01-01

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

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

    ERIC Educational Resources Information Center

    McDonald, Eugene T.; Berlin, Asa J.

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

  11. 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

  12. 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

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

    PubMed Central

    Hanes, Michael C.; Weinzweig, Jeffrey; Panter, Kip E.; McClellan, W. Thomas; Caterson, Stefanie A.; Buchman, Steven R.; Faulkner, John A.; Yu, Deborah; Cederna, Paul S.; Larkin, Lisa M.

    2009-01-01

    Inherent differences in the levator veli palatini (LVP) muscle of cleft palates before palatoplasty may play a role in persistent postrepair velopharyngeal insufficiency (VPI). Contractile properties of LVP muscle fibers were analyzed from young (2-month) normal (YNP), young congenitally cleft (YCP) and again on the same YCP subjects 6 months after palatoplasty, mature repaired palate (MRP). The cross-sectional area and rate of force development (ktr) were measured. Specific force (sF0) and normalized power (nPmax) were calculated. Using ktr to determine fiber type composition, YNP was 44% type 1 and 56% type 2, while YCP was 100% type 2. Two MRP subjects shifted to 100% type 1; 1 demonstrated increased resistance to fatigue. No differences in sF0 were observed. nPmax increased with presence of type 2 fibers. The persistent state of type 2 fibers following palatoplasty leads to increased fatigue in the LVP of MRP subjects and may cause VPI symptoms. PMID:18216514

  14. Maternal and child locus of control and field-dependence in cleft palate children.

    PubMed

    Brantley, H T; Clifford, E

    1979-04-01

    The cleft palate experience includes events which are beyond the control of cleft palate children and their mothers. To investigate whether the experiences relate to other maternal and child variables, 44 cleft palate children, 9--18 years of age, and their mothers were compared to 61 control children and their mothers. Maternal variables included locus of control and perceived reactions to the child's birth. Child variables included locus of control, field dependence, parental perceptions, and teacher ratings. Mothers of children with cleft palates indicated a significantly greater negative impact at their children's births but did not indicate greater externality. Children with clefts were significantly more external in control, were more field-dependent, perceived parental reactions as more negative, and had more negative academic ratings. Mothers who were more external in locus of control had children who were more field-dependent and had more external control. PMID:284868

  15. 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

  16. 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

  17. 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.

  18. Global variation in cleft palate repairs: an analysis of 352,191 primary cleft repairs in low- to higher-middle-income countries.

    PubMed

    Cubitt, Jonathan J; Hodges, Andrew M; Van Lierde, Kristiane M; Swan, Marc C

    2014-09-01

    Objectives : Resources for repair of cleft lip and palate may be lacking in low- and middle-income countries. The Smile Train is a registered charity that supports cleft repair in resource-poor settings. In the global health care challenge, it has been suggested that many babies born with cleft palates are not repaired. This study aims to determine whether any variation exists in the proportion of cleft lip and cleft palate repairs undertaken in low- and middle-income countries. Methods : Data were obtained from the Smile Train database of 352,191 consecutive cleft operations performed between 2008 and 2011 in low- to higher-middle-income countries. The ratio of cleft lip to palate repair was analyzed as a function of geographic region and by country income (gross national income). Results : A significant correlation exists between both the income of a country and its geographical region to the ratio of lip and palate repair procedures undertaken. Higher-income countries had a higher ratio of cleft palate repairs. Countries in sub-Saharan Africa have the lowest proportion of cleft palate repairs. Conclusion : This study emphasizes that many babies born with cleft palates in resource-poor regions do not have their palates repaired. This finding may be explained by an increased neonatal mortality in cleft palate babies. Furthermore, fewer isolated palatal clefts may present to an appropriate health care facility or there may be a reluctance to treat cleft palate due to concerns regarding higher perioperative risks or the lack of available surgical and anesthetic expertise. PMID:24102511

  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. 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

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

    PubMed Central

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

    2016-01-01

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

  2. A new approach to repairing cleft palate and acquired palatal defects with distraction osteogenesis.

    PubMed

    Wang, D-Z; Chen, G; Liao, Y-M; Liu, S-G; Gao, Z-W; Hu, J; Li, J-H; Liao, C-H

    2006-08-01

    Cleft palate (CP) is one of the most common human congenital deformities, and acquired palate defects after trauma or tumour resection are also common. In this study, distraction osteogenesis (DO) for CP and other palatal bone defects was evaluated. Twenty cats were assigned randomly to 3 groups of (1) 15, (2) 3 and (3) 2 cats. In groups 1 and 2, a rectangular ostectomy, in the posterior of the palatal bone shelf, was performed in the sagittal axis to establish the CP defect model. At the same time, a pure titanium intraoral distractor was fixed to molar teeth with brackets and to the palatal bone shelf across the defect with titanium miniscrews bilaterally. Four weeks later, a secondary transport disc (TD) osteotomy was performed, and gradual DO treatment started at 0.4mm twice a day, after 6 days of latency. DO was performed until the TD reached the opposite margin over the gap in 5-6 days. Three cats each of group 1 were killed at 2, 4, 6, 8 and 12 weeks after completion of DO. In group 2, the bone and soft-tissue defects were untreated until death 6 weeks later. Group 3 cats (control) were killed after 6 weeks. The TD successfully recombined with the opposite palatal bone stump, and proportional expansion of the overlay mucoperiosteal flap was achieved. Intramembranous bone formation was revealed: parallel collagen bundles gradually deposited on new bone trabeculae while the proliferative osteoblasts produced bone matrix. The bone defect was finally reconstructed by de novo osteogenesis. The control group was observed to have no spontaneous repairing. These results suggest that the CP defect was reconstructed by osteogenesis in situ, and the soft tissues expanded simultaneously to achieve functional correction. The intraoral distractor provided both effective distraction and stability. PMID:16690250

  3. 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

  4. 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

  5. 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

  6. 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)

  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. 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

  9. 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

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

    PubMed Central

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

    2015-01-01

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

  11. 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…

  12. Membrane Assisted Palatal Fistula Closure in a Cleft Palate Patient: A Novel Technique.

    PubMed

    Reddy, G Siva Prasad; Reddy, G Venkateshwara; Sree, P Karuna; Reddy, K Sravan Kumar; Reddy, P Amarnath

    2016-03-01

    Palatal fistula following cleft palate repair, is one of the considerable complications and remains a challenging problem to the surgeons. The reported recurrence rate of the fistula is between 33% to 37%. Due to fibrosis and poor vascularity of adjacent tissues, high recurrence rates are typical. Closure of palatal fistulas can be achieved by different surgical techniques like local, regional and distant flaps, local turnover flaps, pedicled flaps from oral mucosa, buccal fat pad flaps, inter-positional cartilage grafts can be utilized for management of small fistulas. For larger fistualas, tongue flaps, temporalis muscle flaps, musculomucosal flaps, nasal septal flaps and free flaps can be used. These procedures are often cumbersome and leave a raw nasal or oral surface, which may increase the incidence of postoperative problems or some flaps can be bulky and may require a second-stage procedure. Different synthetic materials such as alloderm, Poly-D and L-Lactic Acid or "PdLLA" and collagen membrane are used in multilayer repair represented by the nasal mucosa, the inter-positional graft and oral mucosa. These interpositional grafts provide a scaffold for in growth of tissues, revascularization and mucosal epithelialization. We present a case of closure of an oronasal fistula, using resorbable collagen membrane in three layered repair to avoid recurrence. PMID:27135018

  13. Membrane Assisted Palatal Fistula Closure in a Cleft Palate Patient: A Novel Technique

    PubMed Central

    Reddy, G. Siva Prasad; Reddy, G. Venkateshwara; Reddy, K. Sravan Kumar; Reddy, P. Amarnath

    2016-01-01

    Palatal fistula following cleft palate repair, is one of the considerable complications and remains a challenging problem to the surgeons. The reported recurrence rate of the fistula is between 33% to 37%. Due to fibrosis and poor vascularity of adjacent tissues, high recurrence rates are typical. Closure of palatal fistulas can be achieved by different surgical techniques like local, regional and distant flaps, local turnover flaps, pedicled flaps from oral mucosa, buccal fat pad flaps, inter-positional cartilage grafts can be utilized for management of small fistulas. For larger fistualas, tongue flaps, temporalis muscle flaps, musculomucosal flaps, nasal septal flaps and free flaps can be used. These procedures are often cumbersome and leave a raw nasal or oral surface, which may increase the incidence of postoperative problems or some flaps can be bulky and may require a second-stage procedure. Different synthetic materials such as alloderm, Poly-D and L-Lactic Acid or “PdLLA” and collagen membrane are used in multilayer repair represented by the nasal mucosa, the inter-positional graft and oral mucosa. These interpositional grafts provide a scaffold for in growth of tissues, revascularization and mucosal epithelialization. We present a case of closure of an oronasal fistula, using resorbable collagen membrane in three layered repair to avoid recurrence. PMID:27135018

  14. The Etiology of Cleft Palate Formation in BMP7-Deficient Mice

    PubMed Central

    Kouskoura, Thaleia; Kozlova, Anastasiia; Alexiou, Maria; Blumer, Susanne; Zouvelou, Vasiliki; Katsaros, Christos; Chiquet, Matthias; Mitsiadis, Thimios A.; Graf, Daniel

    2013-01-01

    Palatogenesis is a complex process implying growth, elevation and fusion of the two lateral palatal shelves during embryogenesis. This process is tightly controlled by genetic and mechanistic cues that also coordinate the growth of other orofacial structures. Failure at any of these steps can result in cleft palate, which is a frequent craniofacial malformation in humans. To understand the etiology of cleft palate linked to the BMP signaling pathway, we studied palatogenesis in Bmp7-deficient mouse embryos. Bmp7 expression was found in several orofacial structures including the edges of the palatal shelves prior and during their fusion. Bmp7 deletion resulted in a general alteration of oral cavity morphology, unpaired palatal shelf elevation, delayed shelf approximation, and subsequent lack of fusion. Cell proliferation and expression of specific genes involved in palatogenesis were not altered in Bmp7-deficient embryos. Conditional ablation of Bmp7 with Keratin14-Cre or Wnt1-Cre revealed that neither epithelial nor neural crest-specific loss of Bmp7 alone could recapitulate the cleft palate phenotype. Palatal shelves from mutant embryos were able to fuse when cultured in vitro as isolated shelves in proximity, but not when cultured as whole upper jaw explants. Thus, deformations in the oral cavity of Bmp7-deficient embryos such as the shorter and wider mandible were not solely responsible for cleft palate formation. These findings indicate a requirement for Bmp7 for the coordination of both developmental and mechanistic aspects of palatogenesis. PMID:23516636

  15. MECHANISMS OF TCDD-INDUCTION OF CLEFT PALATE: INSIGHTS FROM IN VIVO AND IN VITRO APPROACHES

    EPA Science Inventory

    TCDD induced cleft palate (CP) in C57BL6N embryos by altering proliferation and differentiation of palatal medial epithelial cells. hese effects correlated with altered expression of the growth factors, TGF-a,EGF. TGF-B1 and TGF-B2, and the EGF receptor. ynergistic interactions b...

  16. The etiology of cleft palate formation in BMP7-deficient mice.

    PubMed

    Kouskoura, Thaleia; Kozlova, Anastasiia; Alexiou, Maria; Blumer, Susanne; Zouvelou, Vasiliki; Katsaros, Christos; Chiquet, Matthias; Mitsiadis, Thimios A; Graf, Daniel

    2013-01-01

    Palatogenesis is a complex process implying growth, elevation and fusion of the two lateral palatal shelves during embryogenesis. This process is tightly controlled by genetic and mechanistic cues that also coordinate the growth of other orofacial structures. Failure at any of these steps can result in cleft palate, which is a frequent craniofacial malformation in humans. To understand the etiology of cleft palate linked to the BMP signaling pathway, we studied palatogenesis in Bmp7-deficient mouse embryos. Bmp7 expression was found in several orofacial structures including the edges of the palatal shelves prior and during their fusion. Bmp7 deletion resulted in a general alteration of oral cavity morphology, unpaired palatal shelf elevation, delayed shelf approximation, and subsequent lack of fusion. Cell proliferation and expression of specific genes involved in palatogenesis were not altered in Bmp7-deficient embryos. Conditional ablation of Bmp7 with Keratin14-Cre or Wnt1-Cre revealed that neither epithelial nor neural crest-specific loss of Bmp7 alone could recapitulate the cleft palate phenotype. Palatal shelves from mutant embryos were able to fuse when cultured in vitro as isolated shelves in proximity, but not when cultured as whole upper jaw explants. Thus, deformations in the oral cavity of Bmp7-deficient embryos such as the shorter and wider mandible were not solely responsible for cleft palate formation. These findings indicate a requirement for Bmp7 for the coordination of both developmental and mechanistic aspects of palatogenesis. PMID:23516636

  17. A Demonstration Project of Speech Training for the Preschool Cleft Palate Child. Final Report.

    ERIC Educational Resources Information Center

    Harrison, Robert J.

    To ascertain the efficacy of a program of language and speech stimulation for the preschool cleft palate child, a research and demonstration project was conducted using 137 subjects (ages 18 to 72 months) with defects involving the soft palate. Their language and speech skills were matched with those of a noncleft peer group revealing that the…

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  19. 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

  20. CLEFT PALATE IN HIV-EXPOSED NEWBORNS OF MOTHERS ON HIGHLY ACTIVE ANTIRETROVIRAL THERAPY

    PubMed Central

    James, Ayotunde; Oluwatosin, Babatunde; Njideka, Georgina; Babafemi; Benjamin, Onyekwere George; Olufemi, David; Leo, Robert; Folorunso, Isaac; Phylis; Olusina, Olusegun

    2014-01-01

    Aims Cleft lip/palate, though rare, is the commonest head and neck congenital malformation. Both genetic and environmental factors have been implicated in the aetiopathogenesis but the role of in-utero exposure to human immunodeficiency virus (HIV) and highly active antiretroviral therapy (HAART) is still being investigated. This short communication reports the occurrence of cleft palate in three newborns exposed in-utero to HIV and HAART. Material and methods This is a case series of HIV-exposed newborns observed to have cleft palate among a larger cohort of HIV-exposed and unexposed newborns in a study evaluating the effect of HIV infection and HAART on newborn hearing. The Risk Ratio (RR) was calculated to detect a potential association between in-utero exposure to Efavirenz containing ART and cleft palate. Results Three HIV-exposed newborns with cleft palate were identified during hearing screening performed on 126 HIV-exposed and 121 HIV unexposed newborns. Two had exposure to tenofovir+lamivudine+efavirenz (TDF+3TC+EFV) while the third had exposure to zidovudine+lamivudine+nevirapine (ZDV+3TC+NVP) during the first trimester. There was no statistically significant association between presence of cleft palate and exposure to an EFV containing HAART regimen (p=0.07, RR=10.95 [0.94-126.84]). Conclusions This communication highlights the possible aetiologic role of HAART in cleft palate, the need for further prospective follow-up studies and establishment of antiretroviral pregnancy, birth and neonatal registries. PMID:25653715

  1. 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.

  2. Strategies for treating compensatory articulation in patients with cleft palate.

    PubMed

    Del Carmen Pamplona, Maria; Ysunza, Antonio; Morales, Santiago

    2014-03-01

    Patients with cleft palate frequently show compensatory articulation (CA). CA requires a prolonged period of speech intervention. Some scaffolding strategies can be useful for correcting placement and manner of articulation in these cases. The purpose of this paper was to study whether the use of specific strategies of speech pathology can be more effective if applied according to the level of severity of CA. Ninety patients with CA were studied in two groups. One group was treated using strategies specific for their level of severity of articulation, whereas in the other group all strategies were used indistinctively. The degree of severity of CA was compared at the end of the speech intervention. After the speech therapy intervention, the group of patients in which the strategies were used selectively, showed a significantly greater decrease in the severity of CA, as compared with the patients in whom all the strategies were used indistinctively. An assessment of the severity of CA can be useful for selecting the strategies, which can be more effective for correcting the compensatory errors. PMID:24711749

  3. 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

  4. 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

  5. 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

  6. 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.

  7. 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

  8. 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

  9. 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

  10. Histone acetylation is involved in TCDD‑induced cleft palate formation in fetal mice.

    PubMed

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

    2016-08-01

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

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

    PubMed Central

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

    2016-01-01

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

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  13. [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

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

    PubMed Central

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

    2016-01-01

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

  15. 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

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

    PubMed

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

    2016-04-01

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

  17. 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

  18. 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

  19. Stability after Cleft Maxillary Distraction Osteogenesis or Conventional Orthognathic Surgery

    PubMed Central

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

    2015-01-01

    ABSTRACT Objectives To compare stability of maxillary advancements in patients with cleft lip and palate following distraction osteogenesis or orthognathic surgery. Material and Methods Inclusion criteria: 1) cleft lip and palate, 2) advancement > 8 mm. Eleven patients comprised the distraction osteogenesis group (DOG). Seven patients comprised the orthognathic treatment group (CONVG). Skeletal and soft tissue points were traced on lateral cephalograms: T1 (preoperatively), T2 (after surgery), T3 (follow-up). Group differences were analyzed using Students t-test. Results At T1-T2, advancement of 6.98 mm (P = 0.002) was observed in DOG. Horizontal overjet increased 11.62 mm (P = 0.001). A point-nasion-B point (ANB) angle increased 8.82° (P = 0.001). Aesthetic plane to upper lip was reduced 5.44 mm (P = 0.017) and the naso-labial angle increased 16.6° (P = 0.001). Vertical overbite (VOB) increased 2.27 mm (P = 0.021). In T2-T3, no significant changes were observed in DOG. In T1-T2, horizontal overjet increased 8.45 mm (P = 0.02). The ANB angle, 9.33° (P = 0.009) in CONVG. At T2-T3, VOB increased, 2.35 mm (P = 0.046), and the ANB angle reduced, 3.83° (P = 0.003). In T2-T3, no parameters changed in CONVG. At follow-up (T3), VOB increased in CONVG compared with DOG, (P = 0.01). Vertical position of A point differed between the groups (P = 0.04). No significant intergroup differences between soft tissue parameters occurred. Conclusions Distraction osteogenesis resulted in a stable position of the maxilla and movement upwards in vertical plane, however in case of orthognathic treatment sagittal relapse and a continued postoperatively downward movement was registered. PMID:26229581

  20. Neonatal Mandibular Distraction Osteogenesis Reduces Cleft Palate Width and Lengthens Soft Palate, Influencing Palatoplasty in Patients With Pierre Robin Sequence.

    PubMed

    Collares, Marcus V M; Duarte, Daniele W; Sobral, Davi S; Portinho, Ciro P; Faller, Gustavo J; Fraga, Mariana M

    2016-07-01

    The aim of this study was to evaluate the influence of neonatal mandibular distraction osteogenesis (MDO) on cleft dimensions and on early palatoplasty outcomes in patients with Pierre Robin Sequence (PRS). In a prospective cohort study that enrolled 24 nonsyndromic patients with PRS, 12 submitted to the MDO group and 12 patients not treated (non-MDO group), the authors compared patients for cleft palate dimensions through 7 morphometric measurements at the moment of palatoplasty and for early palatoplasty outcomes. At palatoplasty, the MDO group presented a significant shorter distance between the posterior nasal spines (PNS-PNS, P < 0.001) and between uvular bases (UB-UB, P < 0.001), representing a reduction in cleft palate width. They also had significant soft palate lengthening represented by a larger distance between UB and retromolar space (UB-RM, P < 0.001) and UB and PNS (UB-PNS, P = 0.014). Their UB moved away from the posterior wall of the nasopharynx (UB-NPH, P < 0.001). The MDO group had a length of operative time significantly shorter (P < 0.001) and no early palatoplasty complications compared with the non-MDO group. In conclusion, MDO acted as an orthopedic procedure that reduced cleft palate width and elongated the soft palate in patients with PRS. These modifications enabled a reduction of around 11% in the length of operative time of palatoplasty (P < 0.001). PMID:27315309

  1. 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.

  2. 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

  3. 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

  4. 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

  5. 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.

  6. 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.

  7. 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

  8. 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

  9. The Anterior Double-Tilt Precision Attachment Case for Cleft Palate Patients and Accident Victims. Case Reports.

    PubMed

    Feinberg, Edward

    2016-01-01

    Passively retained precision attachment removable partial dentures have been used successfully since the 1920s. Adult cleft palate patients and accident victims often have endured a lifetime of wearing awkward appliances to replace the missing structures that never formed intraorally or were lost in a traumatic accident. These patients tend to be poor candidates for dental implants, even with repeated grafting surgeries. The anterior double-tilt precision attachment case is a great treatment option for adults to restore the missing dental structures. Anterior precision partial dentures are stable appliances in the mouth that are worn 24 hours a day and only removed for hygiene. They can be custom designed for maximum esthetics. They do not require denture paste, and they extend minimally onto the palate. As a result, they do not interfere with musculature, tongue movements, speech and taste. Cleft palate patients and accident victims with poor or non-existent edentulous ridges will have difficulty retaining a denture, so preservation of the existing dentition is essential for comfort and function. Because these prostheses do not apply destructive forces to the abutment teeth, they can last decades with minimal maintenance. PMID:26939155

  10. 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

  11. 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.

  12. 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

  13. 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

  14. Interhypothalamic Adhesion in a 9-Month-Old Male with Cleft Palate

    PubMed Central

    Whitehead, Matthew T.; Angel, Jacqueline D. S.

    2013-01-01

    A 9-month-old male infant with multiple congenital anomalies including cleft lip and palate was referred to us for a brain MR to exclude additional intracranial abnormalities. Imaging revealed an interhypothalamic adhesion, which we present as a possible forme fruste of holoprosencephaly. PMID:24368961

  15. Evaluation of speech errors in Putonghua speakers with cleft palate: a critical review of methodology issues.

    PubMed

    Jiang, Chenghui; Whitehill, Tara L

    2014-04-01

    Speech errors associated with cleft palate are well established for English and several other Indo-European languages. Few articles describing the speech of Putonghua (standard Mandarin Chinese) speakers with cleft palate have been published in English language journals. Although methodological guidelines have been published for the perceptual speech evaluation of individuals with cleft palate, there has been no critical review of methodological issues in studies of Putonghua speakers with cleft palate. A literature search was conducted to identify relevant studies published over the past 30 years in Chinese language journals. Only studies incorporating perceptual analysis of speech were included. Thirty-seven articles which met inclusion criteria were analyzed and coded on a number of methodological variables. Reliability was established by having all variables recoded for all studies. This critical review identified many methodological issues. These design flaws make it difficult to draw reliable conclusions about characteristic speech errors in this group of speakers. Specific recommendations are made to improve the reliability and validity of future studies, as well to facilitate cross-center comparisons. PMID:24093158

  16. 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)

  17. Long-Term Speech Results of Cleft Palate Speakers with Marginal Velopharyngeal Competence.

    ERIC Educational Resources Information Center

    Hardin, Mary A.; And Others

    1990-01-01

    This study of the longitudinal speech performance of 48 cleft palate speakers with marginal velopharyngeal competence, from age 6 to adolescence, found that the adolescent subjects' velopharyngeal status could be predicted based on 2 variables at age 6: the severity ratings of articulation defectiveness and nasality. (Author/JDD)

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

    ERIC Educational Resources Information Center

    Lynch, Joan I.; And Others

    1983-01-01

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

  19. Role of Visual Feedback Treatment for Defective /s/ Sounds in Patients with Cleft Palate.

    ERIC Educational Resources Information Center

    Michi, Ken-ichi; And Others

    1993-01-01

    Six patients with cleft palate were provided treatment using either visual feedback for tongue placement and frication or no visual feedback. Results indicated the feedback was especially useful in the treatment of defective /s/ sounds in the patients who exhibited abnormal posterior tongue posturing during dental or alveolar sounds. (Author/DB)

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

  2. Speech Production Time and Judgments of Disordered Nasalization in Speakers with Cleft Palate.

    ERIC Educational Resources Information Center

    Jones, David L.; And Others

    1990-01-01

    This study investigated effect of production time on the perception of disordered nasalization in 20 children (ages 6-18) with cleft palate. Ten judges used direct magnitude estimates to rate severity of disordered nasalization. Results indicated that reducing the production time did not change perceptible nasalization. (Author/DB)

  3. Compensatory Articulatory Behaviours in Adolescents with Cleft Palate: Comparing the Perceptual and Instrumental Evidence

    ERIC Educational Resources Information Center

    Howard, Sara

    2004-01-01

    A combination of perceptual and electropalatographic (EPG) analysis is used to investigate speech production in three adolescent speakers with a history of cleft palate. All the subjects still sound markedly atypical. Their speech output is analysed in three conditions: diadochokinetic tasks; single word production; connected speech. Comparison of…

  4. 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…

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

    ERIC Educational Resources Information Center

    Sell, Debbie

    2005-01-01

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

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

    ERIC Educational Resources Information Center

    Richman, Lynn C.

    1980-01-01

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

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

    PubMed Central

    Yellinedi, Rajesh; Damalacheruvu, Mukunda Reddy

    2013-01-01

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

  9. 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

  10. 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

  11. 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

  12. Appropriate Tongue Blade Length of the Dingman Mouth Gag for Japanese Pediatric Patients With Cleft Palate and Mandibular Micrognathia.

    PubMed

    Satoh, Koji; Aizawa, Takako; Kobayashi, Yoshikazu; Mizutani, Hideki; Yamada, Morimasa

    2016-03-01

    Objective Our objective is to determine appropriate specifications for smaller tongue blade for Japanese pediatric patients with cleft palate (CP) and mandibular micrognathia. Patients We investigated 59 patients who underwent palatoplasty. Patients were divided into two groups: the micrognathia (MG) group consisted of 11 patients and the normognathia (NG) group consisted of 48 patients. Interventions The following five items were investigated retrospectively: (1) gender, (2) cleft type, (3) age at the time of surgery, (4) weight at the time of surgery, and (5) distance from the tongue blade base to the posterior pharyngeal wall (Dis). Results There was a significant difference (P < .01) in age at the time of surgery and in Dis between groups, but not in weight. The minimum values were 55 mm for the MG group. As for correlations between age and weight at the time of surgery, the P values for the MG and NG groups were .993 and .052, respectively. As for correlations between weight at the time of surgery and Dis, the P values for the MG and NG groups were .987 and .099, respectively. Conclusions It was difficult to predict Dis on the basis of the patient's age and weight measured preoperatively. The minimum Dis was 55 mm, equal to the length from the base to the tip of the Dingman Mouth Gag tongue blade currently in use, suggesting that a tongue blade of approximately 50 mm in length, shorter than the current minimum specifications, may be appropriate. PMID:25607241

  13. 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

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

    PubMed Central

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

    2013-01-01

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

  15. 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

  16. Frontal cephalometric evaluation of transverse dentofacial morphology and growth of children with isolated cleft palate.

    PubMed

    Athanasiou, A E; Moyers, R E; Mazaheri, M; Toutountzakis, N

    1991-08-01

    The transverse dentofacial morphology and growth of 64 children operated on for clefting of the hard and soft palate was studied by means of a frontal proportional cephalometric analysis and was compared to a normal sample at the ages 3-4, 8-9 and 12 years. The cross-sectional comparison of the cleft palate and normal samples at the three periods indicated: (a) The presence in the cleft group of significantly increased ratios of the inner orbital width to the interorbital width and of the width of the nasal cavity to the interorbital width; (b) the absence of any significant differences in the ratio of the maxillary intermolar width to the interorbital width; and (c) the presence of almost identical ratios of the intergonial width of the mandible to the interorbital width and of the width of the maxilla to the intergonial width of the mandible. Evaluation of the changes of all cephalometric variables during the period 8-12 years showed the absence of any significant difference between the cleft palate and normal groups. PMID:1939671

  17. 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

  18. 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…

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

    PubMed

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

    2011-03-01

    The aetiology of non-syndromic cleft lip and palate has as yet not been clearly defined. Familial relationships, environmental toxins and nutritional status have all been considered without conclusive results, although in some studies a potential link between non-syndromic cleft lip and palate and any one or more of these factors has been proposed. Elevated stress, particularly an extended term of traumatic stress, can lead to oxidative damage at the cellular level via hypothalamus-pituitary-adrenal (HPA) axis dysregulation, high cortisol and cytokine production. The effect of this hormonal shift is to re-direct the blood supply to the mother's muscles, thereby reducing the supply to the placenta, causing a potential nutritional deficiency which may then result in a genetic alteration in the foetus. Mothers with a child aged two years or younger who had been born with a cleft, who were members of CleftPals, a family support group, volunteered to be participants in this qualitative study. The research first called for a survey to be completed by the mother and this was then followed by an interview conducted by the researcher. The study involved families living in the three eastern States of Australia. The results suggest that physical and/or emotional stress may well be implicated in clefting. While little work has been done in considering stress as a causal factor, the existing literature suggests, as does this study, that elevated stress levels at, or soon after, conception appear to affect foetal development. PMID:20832377

  20. Automatic evaluation of hypernasality based on a cleft palate speech database.

    PubMed

    He, Ling; Zhang, Jing; Liu, Qi; Yin, Heng; Lech, Margaret; Huang, Yunzhi

    2015-05-01

    The hypernasality is one of the most typical characteristics of cleft palate (CP) speech. The evaluation outcome of hypernasality grading decides the necessity of follow-up surgery. Currently, the evaluation of CP speech is carried out by experienced speech therapists. However, the result strongly depends on their clinical experience and subjective judgment. This work aims to propose an automatic evaluation system for hypernasality grading in CP speech. The database tested in this work is collected by the Hospital of Stomatology, Sichuan University, which has the largest number of CP patients in China. Based on the production process of hypernasality, source sound pulse and vocal tract filter features are presented. These features include pitch, the first and second energy amplified frequency bands, cepstrum based features, MFCC, short-time energy in the sub-bands features. These features combined with KNN classier are applied to automatically classify four grades of hypernasality: normal, mild, moderate and severe. The experiment results show that the proposed system achieves a good performance. The classification rates for four hypernasality grades reach up to 80.4%. The sensitivity of proposed features to the gender is also discussed. PMID:25814462

  1. 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

  2. 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

  3. 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

  4. Rehabilitation of an Edentulous Maxilla in a Patient with Isolated Cleft Palate.

    PubMed

    Valizadeh, Bardia; Barzanji, S Agrin; Patel, Mital; Shahdad, Shakeel

    2016-04-01

    This article aims to discuss the use of short dental implants in cleft patients, the construction of an implant-retained obturator and the use of a Createch milled titanium bar with three Locator overdenture attachments incorporated within the bar. CPD/Clinical Relevance: Implant-retained obturators offer a possible solution for treating patients with isolated cleft palate who are struggling with dentures due to the unfavourable soft and hard tissue profile. This paper demonstrates how to manage such patients and shows all the clinical and laboratory stages involved. PMID:27439268

  5. Maxillary distraction osteogenesis for treatment of cleft lip and palate in a patient with X-linked agammaglobulinemia.

    PubMed

    Sato, Yutaka; Mishimagi, Takashi; Katsuki, Yuko; Harada, Kiyoshi

    2014-07-01

    X-linked agammaglobulinemia (XLA) is a congenital immune deficiency disorder caused by abnormal antibody production. It is a rare disease with an estimated frequency of 1 in 379,000 that has X-linked recessive heredity and develops only in males. The clinical problems include bacterial infection such as otitis media, sinusitis, and bronchitis. In recent years it has become possible to diagnose XLA in the early stage and intravenous immunoglobulin replacement therapy has permitted survival to adulthood. However, there have been no reports of oral surgery in patients with XLA. Here, we describe a case in which immunoglobulin replacement therapy given pre- and postoperatively was used to control infection in oral surgery and maxillary distraction osteogenesis performed for improving occlusion and appearance of a cleft lip and palate in a patient with XLA. PMID:24947966

  6. 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

  7. Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.

    PubMed

    Pauws, Erwin; Hoshino, Aya; Bentley, Lucy; Prajapati, Suresh; Keller, Charles; Hammond, Peter; Martinez-Barbera, Juan-Pedro; Moore, Gudrun E; Stanier, Philip

    2009-11-01

    Craniofacial defects involving the lip and/or palate are among the most common human birth defects. X-linked cleft palate and ankyloglossia results from loss-of-function mutations in the gene encoding the T-box transcription factor TBX22. Further studies show that TBX22 mutations are also found in around 5% of non-syndromic cleft palate patients. Although palate defects are obvious at birth, the underlying developmental pathogenesis remains unclear. Here, we report a Tbx22(null) mouse, which has a submucous cleft palate (SMCP) and ankyloglossia, similar to the human phenotype, with a small minority showing overt clefts. We also find persistent oro-nasal membranes or, in some mice a partial rupture, resulting in choanal atresia. Each of these defects can cause severe breathing and/or feeding difficulties in the newborn pups, which results in approximately 50% post-natal lethality. Analysis of the craniofacial skeleton demonstrates a marked reduction in bone formation in the posterior hard palate, resulting in the classic notch associated with SMCP. Our results suggest that Tbx22 plays an important role in the osteogenic patterning of the posterior hard palate. Ossification is severely reduced after condensation of the palatal mesenchyme, resulting from a delay in the maturation of osteoblasts. Rather than having a major role in palatal shelf closure, we show that Tbx22 is an important determinant for intramembranous bone formation in the posterior hard palate, which underpins normal palate development and function. These findings could have important implications for the molecular diagnosis in patients with isolated SMCP and/or unexplained choanal atresia. PMID:19648291

  8. Do patients with isolated Pierre Robin Sequence have worse outcomes after cleft palate repair: A systematic review.

    PubMed

    Wan, Teng; Chen, Yang; Wang, Guomin

    2015-08-01

    Cleft palate repair for Pierre Robin Sequence (PRS) patients has always been a challenge for surgeons and anesthetists. The aim of this systematic review is to investigate the outcome of cleft palate repair for PRS patients compared with cleft palate-only patients. All papers published before October 2014 were searched in the databases PubMed and MEDLINE. Search terms included "Pierre Robin Sequence," "cleft palate repair," and "speech result." Additional studies were identified by hand searching the reference lists of the papers retrieved from electronic search. Two independent reviewers assessed the eligibility of studies for inclusion, extracted the data, and assessed the quality of the studies. Six studies met the inclusion criteria. All but one study had multiple deficiencies in study designs. Four studies assessed the fistula rate of both groups, and all studies assessed some aspect of the speech results. Conflicting results and a lack of high-quality and long-term outcomes of reviewed studies provided no conclusive scientific evidence about whether the outcome of cleft palate repair for PRS patients was better or worse than cleft palate-only patients. Further well-designed, well-controlled, and long-term studies are needed. PMID:26187812

  9. Cellular alterations and enhanced induction of cleft palate after coadministration of retinoic acid and TCDD

    SciTech Connect

    Abbott, B.D.; Birnbaum, L.S. )

    1989-06-15

    2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) and retinoic acid (RA) are both teratogenic in mice. TCDD is a highly toxic, stable environmental contaminant, while RA is a naturally occurring form of vitamin A. Exposure to TCDD induces hydronephrosis and cleft palate, and exposure to RA induces limb defects and cleft palate. Teratology studies previously have shown that the incidence of clefting is higher after exposure to RA + TCDD than would be observed for the same doses of either compound given alone. This study examines the cellular effects which result in cleft palate, after po administration on gestation Day (GD) 10 or 12 of RA + TCDD in corn oil (10 ml/kg total volume). Exposure on GD 10 to 6 micrograms TCDD + 40 mg RA/kg inhibited early growth of the shelves and clefting was due to a failure of shelves to meet and fuse. This effect on mesenchyme was observed in previous studies to occur after exposure on GD 10 to 40 mg/kg RA alone, but not after TCDD alone. After exposure on GD 12 to 6 micrograms TCDD + 80 mg RA/kg, clefting was due to a failure of shelves to fuse after making contact, because the medial cells differentiated into an oral-like epithelium. This response was observed in previous studies to occur after exposure to TCDD alone, but RA alone on GD 12 resulted in differentiation toward nasal-like cells. The interaction between TCDD and RA results in RA-like clefting after exposure on GD 10 and TCDD-like clefting after exposure on GD 12, and this clefting occurs at higher incidences than would occur after the same levels of either agent alone. After exposure on either GD 10 or 12 to RA + TCDD, the programmed cell death of the medial cells does not occur, and these cells continue to express EGF receptors and to bind 125I-EGF. The effects of RA and TCDD may involve modulation of the cells responses to embryonic growth and differentiation factors.

  10. 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…

  11. 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…

  12. 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

  13. 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

  14. Self-Image Perception of 171 Children and Adolescents With Cleft Lip and Palate From 22 Countries

    PubMed Central

    Abd-Elsayed, Alaa A.; Delgado, Sergio V.; Livingstone, Morgan

    2013-01-01

    Background Cleft lip (CL) and cleft palate (CP) are among the most common congenital deformities of the head and neck. They are associated with many problems, physical and psychological. We describe 171 children and adolescents with CL/CP from 22 countries who were asked to draw their faces in a self-image perception drawing 2 hours before surgery to repair their deformities. Methods The aim of the study was to explore whether children and adolescents with CL and CP perceived themselves as deformed when given the opportunity to draw their faces before surgery to repair their deformities. Children were asked to lie down on a large piece of paper to have their body outline traced. Subsequently, the children were asked to draw their faces within the outline. Results All of the children included in this study drew their faces with normal mouths. Conclusion None of the 171 patients with CL/CP drew their deformity when asked to draw their faces; the reasons are not clear. The children may have wanted to compensate for their disability with the constructive use of fantasy as they anticipated the surgery to repair their CL/CP. An additional hypothesis is that the children felt the need to draw an image that they knew represented their parents' desires. PMID:23789006

  15. Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

    PubMed Central

    Goyal, Manisha; Pradhan, Gaurav; Gupta, Sunita; Kapoor, Seema

    2015-01-01

    The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate. PMID:25684924

  16. 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

  17. 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…

  18. Normative Velopharyngeal Data in Infants: Implications for Treatment of Cleft Palate.

    PubMed

    Schenck, Graham C; Perry, Jamie L; Fang, Xiangming

    2016-09-01

    Identifying normative data related to velopharyngeal muscles and structures may have clinical significance for infants born with cleft palate, especially as they relate to selection of surgical intervention and postsurgical outcomes. Previous studies suggest that patients whose anatomy postsurgically is dissimilar to that of their normative counterparts are at risk for hypernasal speech. However, studies have not documented what constitutes "normal" anatomy for the clinically relevant population-that is, the infant population. The purpose of this study is to examine a magnetic resonance imaging database (n = 29) related to normative velopharyngeal structures and provide a preliminary comparison to 2 selected patients with repaired cleft palate. Twenty-nine healthy infants between 9 and 23 months of age (mean = 15.2 months) with normal craniofacial and velopharyngeal anatomy were recruited to participate in this study. Normative data were compared to 2 infants with repaired cleft palate between 13 and 15 months of age (mean = 14 months). Quantitative craniometric and velopharyngeal measures from the sagittal and oblique coronal image planes were collected. Variables of interest included: levator muscle, velar, and craniometric measures. Females demonstrated significantly larger intravelar segments compared with males. White infants demonstrated significantly larger levator muscles compared to non-white infants. Infants with repaired cleft palate demonstrated increased overall levator muscle length and levator extravelar length compared with infants with normal velopharyngeal anatomy.Data from the present study provide a normative database for future investigators to utilize as a comparative tool when evaluating infants with normal and abnormal velopharyngeal anatomy. PMID:27607114

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

    PubMed Central

    Slaney, S. F.; Oldridge, M.; Hurst, J. A.; Moriss-Kay, G. M.; Hall, C. M.; Poole, M. D.; Wilkie, A. O.

    1996-01-01

    Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet. It is caused by specific missense substitutions involving adjacent amino acids (Ser252Trp or Pro253Arg) in the linker between the second and third extracellular immunoglobulin domains of fibroblast growth factor receptor 2 (FGFR2). We have developed a simple PCR assay for these mutations in genomic DNA, based on the creation of novel (SfiI) and (BstUI) restriction sites. Analysis of DNA from 70 unrelated patients with Apert syndrome showed that 45 had the Ser252Trp mutation and 25 had the Pro253Arg mutation. Phenotypic differences between these two groups of patients were investigated. Significant differences were found for severity of syndactyly and presence of cleft palate. The syndactyly was more severe with the Pro253Arg mutation, for both the hands and the feet. In contrast, cleft palate was significantly more common in the Ser252Trp patients. No convincing differences were found in the prevalence of other malformations associated with Apert syndrome. We conclude that, although the phenotype attributable to the two mutations is very similar, there are subtle differences. The opposite trends for severity of syndactyly and cleft palate in relation to the two mutations may relate to the varying patterns of temporal and tissue-specific expression of different fibroblast growth factors, the ligands for FGFR2. Images Figure 1 Figure 2 Figure 3 Figure 4 PMID:8651276

  1. 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

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

    SciTech Connect

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

    1996-05-01

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

  3. Role of corticosterone in cleft palate formation in methylmercuric chloride-treated mice

    SciTech Connect

    Chan, K.K.S.; Lee, M.

    1981-04-01

    The effect of simultaneous administration of sodium selenite and methylmercuric chloride on plasma corticosterone, and the effect of adrenalectomy and methylmercuric chloride treatment on the incidence of fetal cleft palate in mice were examined. After 6 consecutive days of treatment, methylmercury (as methylmercuric chloride) at 5 mg/kg per day increased plasma corticosterone to approximately twice the concentration observed in the controls. When administered together, selenium (as sodium selenite) at 0.125 to 0.5 mg/kg per day did not affect the increase of plasma corticosterone induced by methylmercuric chloride. Selenite by itself (0.125 to 0.5 mg selenium/kg per day) resulted in an increase of approximately 50% over the controls. Sham opration or adrenalectomy of mice on Day 7 of pregnancy did not result in a significant incidence of cleft palate in the fetuses. However, the administration of methylmercury (5 mg/kg per day) on Days 11, 12, and 13 of gestation to the operated mothers resulted in cleft palate in approximately 30% of the fetuses, regardless of the type of operation. The significance of these findings is discussed.

  4. 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

  5. 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

  6. 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

  7. 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.

  8. 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

  9. The incidence of congenital anomalies associated with cleft palate/cleft lip and palate in neonates in the Konya region, Turkey.

    PubMed

    Altunhan, Hüseyin; Annagür, Ali; Konak, Murat; Ertuğrul, Sabahattin; Ors, Rahmi; Koç, Hasan

    2012-09-01

    Additional congenital anomalies have often been found in patients with orofacial clefts. We wanted to find out the incidence and type of congenital malformations that may accompany cleft palate (CP) and cleft lip and palate (CLP) in babies born in the Konya region. A total of 121 newborn babies with CP or CLP were prospectively included in the study, and all were assessed in detail for congenital anomalies. Of 121 babies, 86 (71%) had CLP and 35 (29%) had CP. There was at least one congenital malformation in 80 (66%) of the cases. Additional congenital malformations were seen in 26 (74%) of the 35 with isolated CP, and 54 (63%) in the 86 patients with CLP (p<0.05). The most common congenital malformation was congenital heart disease, followed by head and neck anomalies. The most common congenital heart disease was atrial septal defect. A serious chromosomal anomaly was found in 18/121 patients with CP or CLP (15%). Of the 80 babies in whom congenital malformations were found, 31 (39%) had dysmorphic features. While 21 (68%) of dysmorphic cases had isolated CP, 10 (32%) had CLP (p<0.05). The rates of premature delivery, intrauterine growth retardation, and consanguinity between parents were higher in patients with CP or CLP. The neonatal mortality was 20% (n=24). Our results indicate that at least one congenital anomaly is also present in about two-thirds of newborn babies with CP and CLP, and these anomalies significantly increase their morbidity and mortality. All newborn babies with CP and CLP should be screened for additional congenital anomalies, particularly of the cardiovascular system. PMID:21880407

  10. [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

  11. Loss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in mice

    PubMed Central

    Zhang, Jian; Yang, Rui; Liu, Ziyi; Hou, Congzhe; Zong, Wen; Zhang, Aizhen; Sun, Xiaoyang; Gao, Jiangang

    2015-01-01

    In mammals, embryonic development are highly regulated morphogenetic processes that are tightly controlled by genetic elements. Failure of any one of these processes can result in embryonic malformation. The lysyl oxidase (LOX) family genes are closely related to human diseases. In this study, we investigated the essential role of lysyl oxidase-like 3 (LOXL3), a member of the LOX family, in embryonic development. Mice lacking LOXL3 exhibited perinatal lethality, and the deletion of the Loxl3 gene led to impaired development of the palate shelves, abnormalities in the cartilage primordia of the thoracic vertebrae and mild alveolar shrinkage. We found that the obvious decrease of collagen cross-links in palate and spine that was induced by the lack of LOXL3 resulted in cleft palate and spinal deformity. Thus, we provide critical in vivo evidence that LOXL3 is indispensable for mouse palatogenesis and vertebral column development. The Loxl3 gene may be a candidate disease gene resulting in cleft palate and spinal deformity. PMID:26307084

  12. 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

  13. [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

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

    SciTech Connect

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

    2007-05-15

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

  15. 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

  16. 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.

  17. 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

  18. 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

  19. [Medical exchange between faculty of medicine, university of the Ryukyus and Laos country. Medical support with a cleft lip and palate treatment].

    PubMed

    Sunakawa, Hajime

    2013-09-01

    The Faculty of Medicine, University of the Ryukyus, started a "Public Health Project in Lao P.D.R.", which is one of the JICA projects, in 1992, and has been carrying out the "Sethathirath Hospital Improvement Project" since 1999 to improve medical treatment and health care in Lao P.D.R. Marked progress has been made. In addition, the projects of "Medical support for cleft lip and palate patients" performed by both the Oral and Maxillofacial Surgery Department of the University of the Ryukyus Hospital and Okinawa-Laos Cleft Lip and Palate Support Center have continued since 2001. So far, 231 cleft lip and palate patients have benefited from these projects, and favorable effects of medical education and technology transfer for medical staff in Laos have been obtained. Furthermore, during the 3-year period of another JICA project, called "From tooth brushing to oral health--Oral care education for Laos children", the dental caries rate of children in Donkoi Elementary School in Laos reduced from 92.5 to 61.8%, showing a decrease of 30.7%. Based on these encouraging results, in 2012, the JICA started a larger partnership project named 'Cha-ganzyu', which is from the dialect of Okinawa meaning health forever, focusing on oral health improvement of school children and local people of Laos. PMID:24369598

  20. 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

  1. 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

  2. Cleft rhinoplasty

    PubMed Central

    Baskaran, M.; Packiaraj, I.; Arularasan, S. Gidean; Divakar, T. K.

    2015-01-01

    It is universally accepted that correction of cleft lip nose deformity remains a formidable challenge for any cleft surgeon. The nose is a prominent part of the face, and hence a masterly executed cleft lip repair directs the beholders’ eyes from the deformed lip to the deformed nose. A deformed nose that results from unilateral cleft of the lip and palate is likened to a tent whose one side is depressed. Many investigators believe that the deformity of the nose is produced by the malpositioning of essentially normal structures, on the other hand some cleft surgeons contend that it is the intrinsic defects in nasal structures that result in cleft nasal deformity. Depressed and hypoplastic bony scaffolding is the most important aspect of cleft nose deformity and addressing this aspect of cleft nose deformity is the secret of success of a perfect secondary rhinoplasty. Controversy still exists on timing of cleft nasal deformity. Proponents of delayed nasal repair suggest that altering the cartilages in early nasal repair at the time of lip repair would complicate future corrective nasal surgeries if the primary repair would prove unsatisfactory. The correction of nasal deformity could be performed with closed or open technique. This paper highlights one such challenging unilateral cleft lip nasal deformity in a adult patient treated by secondary rhinoplasty by open technique. PMID:26538945

  3. Cleft rhinoplasty.

    PubMed

    Baskaran, M; Packiaraj, I; Arularasan, S Gidean; Divakar, T K

    2015-08-01

    It is universally accepted that correction of cleft lip nose deformity remains a formidable challenge for any cleft surgeon. The nose is a prominent part of the face, and hence a masterly executed cleft lip repair directs the beholders' eyes from the deformed lip to the deformed nose. A deformed nose that results from unilateral cleft of the lip and palate is likened to a tent whose one side is depressed. Many investigators believe that the deformity of the nose is produced by the malpositioning of essentially normal structures, on the other hand some cleft surgeons contend that it is the intrinsic defects in nasal structures that result in cleft nasal deformity. Depressed and hypoplastic bony scaffolding is the most important aspect of cleft nose deformity and addressing this aspect of cleft nose deformity is the secret of success of a perfect secondary rhinoplasty. Controversy still exists on timing of cleft nasal deformity. Proponents of delayed nasal repair suggest that altering the cartilages in early nasal repair at the time of lip repair would complicate future corrective nasal surgeries if the primary repair would prove unsatisfactory. The correction of nasal deformity could be performed with closed or open technique. This paper highlights one such challenging unilateral cleft lip nasal deformity in a adult patient treated by secondary rhinoplasty by open technique. PMID:26538945

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

    PubMed Central

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

    2011-01-01

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

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

    PubMed Central

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

    2010-01-01

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

  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. 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

  8. 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

  9. Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)

    SciTech Connect

    Shiang, R. ); Lidral, A.C.; Ardinger, H.H.; Murray, J.C.; Romitti, P.A.; Munger, R.G.; Buetow, K.H.

    1993-10-01

    Genetic analysis and tissue-specific expression studies support a role for transforming growth-factor alpha (TGFA) in craniofacial development. Previous studies have confirmed an association of alleles for TGFA with nonsyndromic cleft lip with or without cleft palate (CL/P) in humans. The authors carried out a retrospective association study to determine whether specific allelic variants of the TGFA gene are also associated with cleft palate only (CPO). The PCR products from 12 overlapping sets of primers to the TGFA cDNA were examined by using single-strand conformational polymorphism analysis. Four DNA polymorphic sites for TGFA were identified in the 3[prime] untranslated region of the TGFA gene. These variants, as well as previously identified RFLPs for TGFA, were characterized in case and control populations for CPO by using X[sup 2] analysis. A significant association between alleles of TGFA and CPO was identified which further supports a role for this gene as one of the genetic determinants of craniofacial development. Sequence analysis of the variants disclosed a cluster of three variable sites within 30 bp of each other in the 3[prime] untranslated region previously associated with an antisense transcript. These studies extend the role for TGFA in craniofacial morphogenesis and support an interrelated mechanism underlying nonsyndromic forms of CL/P. 46 refs., 3 figs., 3 tabs.

  10. 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

  11. Surface laser scanning of the cleft palate deformity--validation of the method.

    PubMed

    Foong, K W; Sandham, A; Ong, S H; Wong, C W; Wang, Y; Kassim, A

    1999-09-01

    Innovations in laser technology have led to the development of three-dimensional surface laser digitisation techniques capable of registering surface topology accurately. The clinical application of this technology in cleft palate documentation requires validation of the technique. This study determined the reliability of the surface laser scanning technique and assessed the reliability of interactive three-dimensional landmark localization. Original and duplicate plaster models of an infant with a complete unilateral cleft lip and palate were digitised with the Cyberware 3030R-HIREZ surface laser scanner. Seven anatomic landmarks were marked permanently on the palatal surface of the duplicate model only, which acted as visual cues for landmark localisation. Each model was scanned ten times serially, and ten composite three-dimensional images were obtained for each. On-line interactive computer landmark localisation permitted the assessment of variance for the x, y and z coordinates of each landmark. The precision of the laser scanning technique was found to be less than 0.06 mm in all three axes. Anatomic landmarks with the clearest visual cue were the least variable after ten rounds of scanning. Significant differences existed between visually aided and non-aided landmark localisation (P < 0.05). While landmarks could be localised repeatedly without the aid of a visual marker, landmarks well defined by a clearly visible visual cue on the three-dimensional image were more reliable. PMID:10597347

  12. Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations

    PubMed Central

    Yang, Tian; Jia, Zhonglin; Bryant-Pike, Whitney; Chandrasekhar, Anand; Murray, Jeffrey C; Fritzsch, Bernd; Bassuk, Alexander G

    2014-01-01

    Palate development is shaped by multiple molecular signaling pathways, including the Wnt pathway. In mice and humans, mutations in both the canonical and noncanonical arms of the Wnt pathway manifest as cleft palate, one of the most common human birth defects. Like the palate, numerous studies also link different Wnt signaling perturbations to varying degrees of limb malformation; for example, shortened limbs form in mutations of Ror2,Vangl2looptail and, in particular, Wnt5a. We recently showed the noncanonical Wnt/planar cell polarity (PCP) signaling molecule Prickle1 (Prickle like 1) also stunts limb growth in mice. We now expanded these studies to the palate and show that Prickle1 is also required for palate development, like Wnt5a and Ror2. Unlike in the limb, the Vangl2looptail mutation only aggravates palate defects caused by other mutations. We screened Filipino cleft palate patients and found PRICKLE1 variants, both common and rare, at an elevated frequency. Our results reveal that in mice and humans PRICKLE1 directs palate morphogenesis; our results also uncouple Prickle1 function from Vangl2 function. Together, these findings suggest mouse and human palate development is guided by PCP-Prickle1 signaling that is probably not downstream of Vangl2. PMID:24689077

  13. 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

  14. 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

  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. The search for hemizygosity at 22qll in patients with isolated cleft palate.

    PubMed

    Mingarelli, R; Digilio, M C; Mari, A; Amati, F; Standoli, L; Giannotti, A; Novelli, G; Dallapiccola, B

    1996-01-01

    The striking association between oral clefting and the velocardio-facial syndrome (VCFS), a common disorder pathogenetically related to 22q11 deficiency, has prompted the search for this deletion in a group of patients with isolated cleft palate. (CP). Thirty-three patients with posterior CP and 5 with complete CP were included in this study, together with 12 patients with a clinical diagnosis of VCFS. Standard and high resolution chromosome analysis was performed, providing normal results. Southern blotting followed by densitometric analysis and fluorescent in situ hydridization of region 22q11 showed no single case of deletion among the isolated CP patients, while deficiency was found in 10 of 12 VCFS patients. These results demonstrate that hemizygosity at 22q11 is not increased in isolated CP. PMID:8773902

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

    PubMed

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

    2014-01-01

    Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly that affects 1:50,000 live births. SMMCI syndrome is characterized by the presence of a single central incisor located on the maxillary midline in both primary and permanent dentitions. It may occur as an isolated finding or in association with developmental defects and systemic involvement. Congenital anomalies associated with SMMCI syndrome can include short stature, mild forms of deviation in craniofacial morphology, mild to severe intellectual disability, congenital heart disease, and cleft lip and/or palate. This report describes a clinical case of a 7-year-old girl with SMMCI syndrome--in addition to bilateral residual cleft and associated nasal regurgitation--that was treated with a removable maxillary obturator. PMID:24598504

  18. 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

  19. 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

  20. Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.

    PubMed

    Stamm, Demetra S; Aylsworth, Arthur S; Stajich, Jeffrey M; Kahler, Stephen G; Thorne, Leigh B; Speer, Marcy C; Powell, Cynthia M

    2008-07-15

    Native American myopathy (NAM) [OMIM 255995], a putative autosomal recessive disorder, was first reported in the Lumbee Indians of North Carolina. NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia. This report documents the phenotypic complexity and natural history of this rare congenital disorder in fourteen individuals with NAM. Findings include a previously unreported 36% mortality by age 18. Based on this study, our conservative estimate for prevalence of NAM within the Lumbee population is approximately 2:10,000; however, birth incidence remains unknown. PMID:18553514

  1. [Language acquisition in cleft lip-palate (CLP) children. 2. Linguistic diagnosis and therapeutic approaches].

    PubMed

    Herrmann, W; Bitter, K

    1990-01-01

    The major tests and methods used in language acquisition diagnosis in CLP children of 3 months to 6 years of age are described. Apart from methods for phonetic analysis, such as spectrography, emphasis is being placed on the assessment of listening by hearing and of semantic and meta-linguistic acquisition. Additional information is obtained on the motoric, cognitive and social development (for detecting any possible multiple handicaps in these areas). In this context the major problems covered in cleft palate parent groups are also pointed out. Finally, the speech therapy provided for preschool children with severe speech problems (as compared with the control group) is outlined. PMID:2102408

  2. 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

  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. The Fetal Cleft Palate: IV. Midfacial Growth and Bony Palatal Development following In Utero and Neonatal Repair of the Congenital Caprine Model

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A Spanish goat model was developed to ascertain the mechanism of action of lupine-induced “crooked calf disease”. This goat model is now being used to study new treatments and improved intervention in the treatment of cleft palate in children. We previously demonstrated that in utero palatoplasty...

  5. Modulation of lipid metabolic defects rescues cleft palate in Tgfbr2 mutant mice.

    PubMed

    Iwata, Junichi; Suzuki, Akiko; Pelikan, Richard C; Ho, Thach-Vu; Sanchez-Lara, Pedro A; Chai, Yang

    2014-01-01

    Mutations in transforming growth factor beta (TGFβ) receptor type II (TGFBR2) cause Loeys-Dietz syndrome, characterized by craniofacial and cardiovascular abnormalities. Mice with a deletion of Tgfbr2 in cranial neural crest cells (Tgfbr2(fl/fl);Wnt1-Cre mice) develop cleft palate as the result of abnormal TGFβ signaling activation. However, little is known about metabolic processes downstream of TGFβ signaling during palatogenesis. Here, we show that Tgfbr2 mutant palatal mesenchymal cells spontaneously accumulate lipid droplets, resulting from reduced lipolysis activity. Tgfbr2 mutant palatal mesenchymal cells failed to respond to the cell proliferation stimulator sonic hedgehog, derived from the palatal epithelium. Treatment with p38 mitogen-activated protein kinase (MAPK) inhibitor or telmisartan, a modulator of p38 MAPK activation and lipid metabolism, blocked abnormal TGFβ-mediated p38 MAPK activation, restoring lipid metabolism and cell proliferation activity both in vitro and in vivo. Our results highlight the influence of alternative TGFβ signaling on lipid metabolic activities, as well as how lipid metabolic defects can affect cell proliferation and adversely impact palatogenesis. This discovery has broader implications for the understanding of metabolic defects and potential prevention of congenital birth defects. PMID:23975680

  6. 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…

  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. 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

  9. 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

  10. 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

  11. Intraoral anastomosis of a prelaminated radial forearm flap in reconstruction of a large persistent cleft palate.

    PubMed

    Landes, Constantin; Cornea, Petruta; Teiler, Anna; Ballon, Alexander; Sader, Robert

    2014-03-01

    In this report, we present a case of a prelaminated radial forearm flap in reconstruction of a large persistent cleft palate with transoral single arterial and three venous anastomoses. A 17-years-old female patient presented a large cleft palate defect and complete dentition, dysmelia of both arms and bilateral thumb aplasia. A radial flap was prelaminated using oral mucosa 5 days prior to transplantation. Five days after flap prelamination, the facial artery and vein, submandibular vein, and a venous branch to the masseter muscle behind the buccinator muscle fibers were exposed through an intraoral incision lateral to the inferior right mucogingival junction. The radial artery, its bilateral accompanying veins, and the cephalic vein of transplanted flap were anastomosed transorally to the facial vessels, submandibular vein, and masseter branch. The vessel pedicle ran through the palatoglossal arch dorsal to the second upper molar. Good flow and flap perfusion were evinced, and further-on successful healing was achieved. The case encourages similar treatment in comparable situations avoiding facial nerve hazard and extraoral scars. PMID:24174205

  12. 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.

  13. 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

  14. Systematic analysis of palatal transcriptome to identify cleft palate genes within TGFβ3-knockout mice alleles: RNA-Seq analysis of TGFβ3 Mice

    PubMed Central

    2013-01-01

    Background In humans, cleft palate (CP) accounts for one of the largest number of birth defects with a complex genetic and environmental etiology. TGFβ3 has been established as an important regulator of palatal fusion in mice and it has been shown that TGFβ3-null mice exhibit CP without any other major deformities. However, the genes that regulate cellular decisions and molecular mechanisms maintained by the TGFβ3 pathway throughout palatogenesis are predominantly unexplored. Our objective in this study was to analyze global transcriptome changes within the palate during different gestational ages within TGFβ3 knockout mice to identify TGFβ3-associated genes previously unknown to be associated with the development of cleft palate. We used deep sequencing technology, RNA-Seq, to analyze the transcriptome of TGFβ3 knockout mice at crucial stages of palatogenesis, including palatal growth (E14.5), adhesion (E15.5), and fusion (E16.5). Results The overall transcriptome analysis of TGFβ3 wildtype mice (C57BL/6) reveals that almost 6000 genes were upregulated during the transition from E14.5 to E15.5 and more than 2000 were downregulated from E15.5 to E16.5. Using bioinformatics tools and databases, we identified the most comprehensive list of CP genes (n = 322) in which mutations cause CP either in humans or mice, and analyzed their expression patterns. The expression motifs of CP genes between TGFβ3+/− and TGFβ3−/− were not significantly different from each other, and the expression of the majority of CP genes remained unchanged from E14.5 to E16.5. Using these patterns, we identified 8 unique genes within TGFβ3−/− mice (Chrng, Foxc2, H19, Kcnj13, Lhx8, Meox2, Shh, and Six3), which may function as the primary contributors to the development of cleft palate in TGFβ3−/− mice. When the significantly altered CP genes were overlaid with TGFβ signaling, all of these genes followed the Smad-dependent pathway. Conclusions Our study represents the

  15. Intra-amniotic Transient Transduction of the Periderm With a Viral Vector Encoding TGFβ3 Prevents Cleft Palate in Tgfβ3−/− Mouse Embryos

    PubMed Central

    Wu, Chadwick; Endo, Masa; Yang, Byung H; Radecki, Melissa A; Davis, Patrick F; Zoltick, Philip W; Spivak, Ryan M; Flake, Alan W; Kirschner, Richard E; Nah, Hyun-Duck

    2013-01-01

    Cleft palate is a developmental defect resulting from the failure of embryonic palatal shelves to fuse with each other at a critical time. Immediately before and during palatal fusion (E13–E15 in mice), transforming growth factor β3 (TGFβ3) is expressed in the palatal shelf medial edge epithelium (MEE) and plays a pivotal role in palatal fusion. Using Tgfβ3−/− mice, which display complete penetrance of the cleft palate phenotype, we tested the hypothesis that intra-amniotic gene transfer could be used to prevent cleft palate formation by restoring palatal midline epithelial function. An adenoviral vector encoding Tgfβ3 was microinjected into the amniotic sacs of mouse embryos at successive developmental stages. Transduced Tgfβ3−/− fetuses showed efficient recovery of palatal fusion with mesenchymal confluence following injection at E12.5 (100%), E13.5 (100%), E14.5 (82%), and E15.5 (75%). Viral vectors injected into the amniotic sac transduced the most superficial and transient peridermal cell layer but not underlying basal epithelial cells. TGFβ3 transduction of the peridermdal cell layer was sufficient to induce adhesion, fusion, and disappearance of the palatal shelf MEE in a cell nonautonomous manner. We propose that intra-amniotic gene transfer approaches have therapeutic potential to prevent cleft palate in utero, especially those resulting from palatal midline epithelial dysfunction. PMID:23089732

  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. 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

  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. 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

  20. [Surgery of palatal and mandibular torus].

    PubMed

    Castro Reino, O; Perez Galera, J; Perez Cosio Martin, J; Urbon Caballero, J

    1990-06-01

    Surgical techniques for the exeresis of torus, both palatal and mandibular. We observe indications, contraindications and complications as well as enumerate all the right events to realize correctly the said techniques. PMID:2206647

  1. 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

  2. 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

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

    ERIC Educational Resources Information Center

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

    2013-01-01

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

  4. 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 ...

  5. Articulatory Placement for /t/, /d/, /k/ and /g/ Targets in School Age Children with Speech Disorders Associated with Cleft Palate

    ERIC Educational Resources Information Center

    Gibbon, Fiona; Ellis, Lucy; Crampin, Lisa

    2004-01-01

    This study used electropalatography (EPG) to identify place of articulation for lingual plosive targets /t/, /d/, /k/ and /g/ in the speech of 15 school age children with repaired cleft palate. Perceptual judgements indicated that all children had correct velar placement for /k/, /g/ targets, but /t/, /d/ targets were produced as errors involving…

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

    ERIC Educational Resources Information Center

    Bressmann, Tim; Klaiman, Paula; Fischbach, Simone

    2006-01-01

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

  7. Role of GATA-6 and Bone Morphogenetic Protein-2 in Dexamethasone-Induced Cleft Palate Formation in Institute of Cancer Research Mice.

    PubMed

    Lan, Shi-Jie; Yang, Xiao-Guang; Chen, Zhe; Yang, Tian-Ye; Xiang, Chen-Hui; Zhang, Duo; Li, Yu-Xin; Rong, Li

    2016-09-01

    The mechanism of cleft palate induction by dexamethasone is not fully known. Bone morphogenetic protein-2 (BMP-2) has been associated with dexamethasone-induced osteoporosis. In this study, the authors induced cleft palate models in Institute of Cancer Research mice by dexamethasone to investigate the role of BMP-2 and its transcriptional element GATA-6. The authors injected different doses of dexamethasone into pregnant mice (E13), and assessed the histology of the palatal shelf and the expression levels of BMP-2, GATA-6, and specific apoptosis-related proteins. The results showed that cleft palate formation was dependent on dexamethasone dosage, with high incidence (50.55%) at high concentration (50 mg/kg) compared with the low doses (6 mg/kg, 38.10%). Transmission electron microscopy revealed significant cellular changes of the cleft palate shelf, including loose cell connection, cellular swelling, as well as reduced extracellular matrix and mitochondria. Following exposure to dexamethasone, the apoptotic rate in the palate increased with elevated dosage. Western blotting analysis indicated that the expression levels of GATA-6 and BMP-2 were reduced, while the levels of apoptotic proteins bax and caspase-3 were increased. The results of authors' study suggested that dexamethasone-induced cleft palate formation involved apoptosis occurred in a dose-dependent manner. BMP-2 and GATA-6 mediated dexamethasone-induced cleft palate formation. PMID:27391658

  8. 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

  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. 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? ...

  11. 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

  12. Possible linkage of non-syndromic cleft lip and palate to the MSX1 homebox gene on chromosome 4p

    SciTech Connect

    Wang, S.; Walczak, C.; Erickson, R.P.

    1994-09-01

    The MSX1 (HOX7) gene has been shown recently to cause cleft palate in a mouse model deficient for its product. Several features of this mouse model make the human homolog of this gene an excellent candidate for non-syndromic cleft palate. We tested this hypothesis by linkage studies in two large multiplex human families using a microsatellite marker in the human MSX1 gene. A LOD score of 1.7 was obtained maximizing at a recombination fraction of 0.09. Computer simulation power calculations using the program SIMLINK indicated that a LOD score this large is expected to occur only about 1/200 times by chance alone for a marker locus with comparable informativeness if unlinked to the disease gene. This suggestive finding is being followed up by attempts to recruit and study additional families and by DNA sequence analyses of the MSX1 gene in these families and other cleft lip and/or cleft palate subjects and these further results will also be reported.

  13. 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

  14. 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

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

    PubMed Central

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

    2015-01-01

    The objective of this case series was to characterize the population, case presentations, and outcomes of 28 equids diagnosed with cleft palate over a 25-year period. The incidence of cleft palate was 0.04%. The median age at presentation was 2 mo (range: 1 d to 3 y). Fifty percent of the animals were < 2 mo old, 21% were ≥ 2 mo but < 1 y old, and 29% were 1 y of age or older. Males and females were nearly equally represented. Short-term outcomes included euthanasia in 50%, surgical repair in 11%, supportive care in 4%, and no treatment in 32% of cases; 46% of the animals survived to discharge. Defects involving both the hard and soft palate and/or aspiration pneumonia generally had less favorable outcomes. Though cleft palate is rare in horses, it should be considered as a differential diagnosis in horses of all ages with nasal discharge, a cough, a history of recurrent respiratory infections, poor growth, or chronic submandibular lymphadenopathy. Endoscopic evaluation of the pharynx may aid in earlier diagnosis and prognostication for owners. PMID:26130841

  16. 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

  17. 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

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

    PubMed

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

    2016-07-01

    The ultrasonographic surface rendered oro-palatal (SROP) view is a 3D reconstructed view of the fetal perioral region, which combines ultrasound insonation in a trans oral, upward directed axial direction and the surface rendered mode. It allows the simultaneous visualization on a single scan of the superior lip, alveolar ridge and secondary palate. It corresponds prenatally to the submental intra oral photography of the palate of neonates. The aim of the study was to demonstrate the benefice of using the SROP view in the management of cleft lip with or without cleft palate, uni- or bi-lateral, diagnosed prenatally (22-28 gestational weeks). The SROP view allowed the representation on a single view of the characteristics of the defect useful to the different members of the orofacial team to exactly evaluate the difformity and to plan the ulterior therapeutic steps (e.g. side, extension of the cleft to the secondary palate, tooth organization). Also, being easier to read by lay people thanks to the use of a surface rendered representation rather than the usual multiplanar reconstructions in the three traditional orthogonal planes, the SROP view makes it easier to bring exact information to the parents about the malformation and its consequences. PMID:27211349

  19. Comparison of hemodynamic response to adrenaline infiltration in children undergoing cleft palate repair during general anesthesia with sevoflurane and isoflurane

    PubMed Central

    Gunnam, Poojita Reddy; Durga, Padmaja; Gurajala, Indira; Kaluvala, Prasad Rao; Veerabathula, Prardhana; Ramachandran, Gopinath

    2016-01-01

    Background and Aims: Systemic absorption of adrenaline often used for infiltration during cleft palate surgery leads to adverse hemodynamic responses. These hemodynamic responses may be attenuated by the volatile anesthetics. This study aims to compare the hemodynamic responses to adrenaline infiltration during isoflurane (ISO) and sevoflurane (SEVO) anesthesia. Material and Methods: Sixty children aged between 9 months and 48 months, weighing between 8 kg and 20 kg, undergoing primary repair of cleft palate were randomly allocated into two groups: Group ISO - anesthesia maintained with ISO (2 minimum alveolar concentrations [MAC]) and nitrous oxide 50% and group SEVO - maintained on SEVO (2 MAC) and nitrous oxide 50%. Surgical site was infiltrated with 1 ml/kg of 1:200,000 solution of adrenaline with 0.5% lignocaine. Heart rate (HR), systolic blood pressure (SBP), diastolic blood pressure (DBP) and mean arterial blood pressure (MAP) were noted at the end of infiltration and every 1 min for 5 min following infiltration. The percentage change of hemodynamic responses from baseline, following infiltration were compared between the two groups. Results: There was no significant change in HR from baseline, and the response was comparable between the agents at all times. The blood pressure (BP) increased from baseline in both the groups but the increase was greater in SEVO than ISO group at 2 and 3 min after infiltration. The maximum change in HR from baseline (group ISO median 10.9% [interquartile range (IQR) 4.5-23.0] vs. group SEVO 26.5% [11.9-44.6]) was comparable in both the groups (P = 0.169). The maximum change in SBP was significantly greater in group SEVO than group ISO (42.8% [IQR 20.0-60.9] vs. 26.0 [11.3-44.5], P = 0.04). The incidence of significant change (>20%) of SBP, DBP, and MAP from baseline was significantly greater in group SEVO after infiltration and 1 min and 2 min after infiltration. There were no arrhythmias in any of the groups. Conclusion

  20. Skeletal stability and relapse patterns after Le Fort I osteotomy using miniplate fixation in patients with isolated cleft palate.

    PubMed

    Posnick, J C; Taylor, M

    1994-07-01

    We present a series of 14 consecutive isolated cleft palate patients aged 17 to 25 years (mean 19 years) who underwent Le Fort I maxillary advancement fixed with miniplates by the senior author (Posnick) over the period 1987-1991. Ten of the patients underwent autogenous bone grafting; all were stabilized intraoperatively with four miniplates, a prefabricated acrylic splint, and intermaxillary fixation. The patients were analyzed to determine amount and timing of horizontal and anterior and posterior vertical relapse, correlation between advancement and relapse, effect of a pharyngoplasty in place at time of osteotomy, effect of performing multiple jaw procedures, and maintenance of overjet and overbite. Tracings of preoperative and serial postoperative lateral cephalograms (immediate, 6 to 8 weeks, and 1 year) were analyzed to calculate horizontal and vertical maxillary changes and the amount of overjet and overbite maintained. Clinical follow-up ranged from 1.5 to 5.5 years (mean 2.5 years). No significant difference was seen in vertical or horizontal change or relapse between patients who had maxillary surgery alone (n = 10) and those who had operations in both jaws (n = 4), nor did outcome vary significantly for those who had a pharyngoplasty in place (n = 8) at the time of their Le Fort I osteotomy. The mean "effective" maxillary advancement for the group was 6.4 mm, with 5.4 mm maintained 1 year later (mean relapse 1.0 mm).(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8016253

  1. 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

  2. Craniofacial Dysmorphogenesis Including Cleft Palate in Mice with an Insertional Mutation in the discs large Gene

    PubMed Central

    Caruana, Georgina; Bernstein, Alan

    2001-01-01

    The discs large (Dlg) protein, or synapse-associated protein 97 (SAP97), is a member of the membrane-associated guanylate kinase family of multidomain scaffolding proteins which recruits transmembrane and signaling molecules to localized plasma membrane sites. Murine dlg is the homologue of the Drosophila dlg tumor suppressor gene. The loss of dlg function in Drosophila disrupts cellular growth control, apicobasal polarity, and cell adhesion of imaginal disc epithelial cells, resulting in embryonic lethality. In this study, we isolated a mutational insertion in the murine dlg locus by gene trapping in totipotent embryonic stem cells. This insertion results in a truncated protein product that contains the N-terminal three PSD-95/DLG/ZO-1 domains of Dlg fused to the LacZ reporter and subsequently lacks the src homology 3 (SH3), protein 4.1 binding, and guanylate kinase (GUK)-like domains. The Dlg-LacZ fusion protein is expressed in epithelial, mesenchymal, neuronal, endothelial, and hematopoietic cells during embryogenesis. Mice homozygous for the dlg mutation exhibit growth retardation in utero, have hypoplasia of the premaxilla and mandible, have a cleft secondary palate, and die perinatally. Consistent with this phenotype, Dlg-LacZ is expressed in mesenchymal and epithelial cells throughout palatal development. Our genetic and phenotypic analysis of dlg mutant mice suggests that protein-protein interactions involving the SH3, protein 4.1 binding, and/or GUK-like domains are essential to the normal function of murine Dlg within craniofacial and palatal morphogenesis. PMID:11238884

  3. Craniofacial dysmorphogenesis including cleft palate in mice with an insertional mutation in the discs large gene.

    PubMed

    Caruana, G; Bernstein, A

    2001-03-01

    The discs large (Dlg) protein, or synapse-associated protein 97 (SAP97), is a member of the membrane-associated guanylate kinase family of multidomain scaffolding proteins which recruits transmembrane and signaling molecules to localized plasma membrane sites. Murine dlg is the homologue of the Drosophila dlg tumor suppressor gene. The loss of dlg function in Drosophila disrupts cellular growth control, apicobasal polarity, and cell adhesion of imaginal disc epithelial cells, resulting in embryonic lethality. In this study, we isolated a mutational insertion in the murine dlg locus by gene trapping in totipotent embryonic stem cells. This insertion results in a truncated protein product that contains the N-terminal three PSD-95/DLG/ZO-1 domains of Dlg fused to the LacZ reporter and subsequently lacks the src homology 3 (SH3), protein 4.1 binding, and guanylate kinase (GUK)-like domains. The Dlg-LacZ fusion protein is expressed in epithelial, mesenchymal, neuronal, endothelial, and hematopoietic cells during embryogenesis. Mice homozygous for the dlg mutation exhibit growth retardation in utero, have hypoplasia of the premaxilla and mandible, have a cleft secondary palate, and die perinatally. Consistent with this phenotype, Dlg-LacZ is expressed in mesenchymal and epithelial cells throughout palatal development. Our genetic and phenotypic analysis of dlg mutant mice suggests that protein-protein interactions involving the SH3, protein 4.1 binding, and/or GUK-like domains are essential to the normal function of murine Dlg within craniofacial and palatal morphogenesis. PMID:11238884

  4. Identification of SATB2 as the cleft palate gene on 2q32-q33.

    PubMed

    FitzPatrick, David R; Carr, Ian M; McLaren, Lorna; Leek, Jack P; Wightman, Patrick; Williamson, Kathy; Gautier, Philippe; McGill, Niolette; Hayward, Caroline; Firth, Helen; Markham, Alex F; Fantes, Judy A; Bonthron, David T

    2003-10-01

    Cytogenetic evidence, in the form of deletions and balanced translocations, points to the existence of a locus on 2q32-q33, for which haploinsufficiency results in isolated cleft palate (CPO). Here we show by high-resolution FISH mapping of two de novo CPO-associated translocations involving 2q32-q33 that one breakpoint interrupts the transcription unit of the gene encoding the DNA-binding protein SATB2 (formerly KIAA1034). The breakpoint in the other translocation is located 130 kb 3' to the SATB2 polyadenylation signal, within a conserved region of non-coding DNA. The SATB2 gene is transcribed in a telomeric to centromeric direction and lies in a gene-poor region of 2q32-q33; the nearest confirmed gene is 1.26 Mb centromeric to the SATB2 polyadenylation signal. SATB2-encoding transcripts are assembled from 11 exons that span 191 kb of genomic DNA. They encode a protein of 733 amino acids that has two CUT domains and a homeodomain and shows a remarkable degree of evolutionary conservation, with only three amino acid substitutions between mouse and human. This protein belongs to the same family as SATB1, a nuclear matrix-attachment region binding protein implicated in transcriptional control and control of chromatin remodelling. There are also sequence similarities to the Drosophila protein DVE. Whole mount in situ hybridization to mouse embryos shows site- and stage-specific expression of SATB2 in the developing palate. Despite the strong evidence supporting an important role for SATB2 in palate development, mutation analysis of 70 unrelated patients with CPO did not reveal any coding region variants. PMID:12915443

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

    PubMed

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

    2016-07-01

    Our aim was to evaluate the rate of fistulation after one-stage palatal repair by intravelarveloplasty in the NorCleft Cleft Services (Scotland and Northern England), this being a primary outcome measure after repair of a cleft palate. We designed a retrospective, three-year clinical audit of six cleft units in the UK, and retrospectively reviewed the casenotes of babies with cleft palate born in 2006-2008 who were treated by intravelarveloplasty. We recorded type of cleft and procedure, including lateral relieving incisions, and our main outcome measure was the presence of a fistula behind the incisive foramen at 3 years of age, or a history of repair of a fistula. A total of 743 patients had cleft palates, but 69 (9%) were excluded (because they had not been operated on, or had not been reviewed by the age of 3 years, or their records were unavailable). A total of 626 patients had had a Sommerlad intravelarveloplasty repair, and 48 had had mixed procedures including Veau-Wardill-Kilner, Furlow, or two-stage repairs, and were not studied further. Eighty-seven (14%) who had had intravelarvoloplasty had a fistula behind the incisive foramen. There was no significant difference in age at time of repair between those who developed a fistula and those who did not (p=0.65). The fistula rate of 14% is comparable with that of Sommerlad. The fistula rate was higher in patients who had had lateral releasing incisions (58/275, 21%) or who had bilateral cleft palate (16/63, 25%). To our knowledge this is the largest review of the fistula rate in patients who had primary palatal repair using the intravelarveloplasty technique in the UK, and shows significant correlation between lateral releasing incisions and formation of a fistula, except in the unilateral cleft lip and palate group (p=0.12). PMID:27118617

  6. Roles of BMP Signaling Pathway in Lip and Palate Development

    PubMed Central

    Parada, Carolina; Chai, Yang

    2013-01-01

    Cleft lip with or without cleft palate (CLP) and cleft palate only (CP) are severe disruptions affecting orofacial structures. Patients with orofacial clefts require complex interdisciplinary care, which includes nursing, plastic surgery, maxillofacial surgery, otolaryngology, speech therapy, audiology, psychological and genetic counseling, orthodontics and dental treatment, among others. Overall, treatment of clefts of the lip and palate entails a significant economic burden for families and society. Therefore, prevention is the ultimate objective and this will be facilitated by a complete understanding of the etiology of this condition. Here we review the current concepts regarding the genetic and environmental factors contributing to orofacial clefts and emphasize on the roles of BMP signaling pathway components in the normal and aberrant development of the lip and palate. PMID:22759670

  7. 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

  8. 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

  9. The transforming growth factor-beta 3 knock-out mouse: an animal model for cleft palate.

    PubMed

    Koo, S H; Cunningham, M C; Arabshahi, B; Gruss, J S; Grant, J H

    2001-09-15

    The recent report of a transforming growth factor-beta 3 (TGF-beta 3) knock-out mouse in which 100 percent of the homozygous pups have cleft palate raised the question as to the potential usefulness of these animals as a model for cleft palate research. The specific aim in this study was to carefully document the anatomy of the cleft palate in the TGF-beta 3 knock-out mice as compared with wild type controls. Special attention was paid to the levator veli palatini muscle, the tensor veli palatini muscle, and their respective innervation. Because the TGF-beta 3 knock-out is lethal in the early perinatal period and because the heterozygotes are phenotypically normal, polymerase chain reaction was required to genotype the animals before mating. Time-mated pregnancies between proven heterozygotes were then delivered by cesarean section at gestational day 18.5 to prevent maternal cannibalism of homozygote pups. All delivered pups were killed and their tails processed by polymerase chain reaction to verify genotype. The heads were then fixed and sectioned in axial, coronal, or sagittal planes. Sections were stained with hematoxylin and eosin or processed for immunohistochemistry with nerve specific protein gene product 9.5 and calcitonin gene-related peptide antibodies. Sections were analyzed in a serial fashion. Nine wild type control animals were analyzed along with nine TGF-beta 3 knock-out homozygotes. Time matings between proven heterozygotes yielded wild type pups, heterozygote pups, and homozygote knock-out pups in the expected mendelian ratios (28 percent to 46 percent to 26 percent; n = 43). The results demonstrated 100 percent clefting in the homozygous TGF-beta 3 knock-out pups. Complete clefting of the secondary palate was seen in four of nine and incomplete clefting was seen in five of nine. The levator veli palatini and tensor veli palatini muscles were demonstrated coursing parallel to the cleft margin in all cleft mice. The orientation of these muscles

  10. 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

  11. 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

  12. 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

  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. 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

  15. Occurrence of consonant production errors in liquid phonemes in children with operated cleft lip and palate

    PubMed Central

    PRANDINI, Estefânia Leite; PEGORARO-KROOK, Maria Inês; DUTKA, Jeniffer de Cássia Rillo; MARINO, Viviane Cristina de Castro

    2011-01-01

    Information about the prevalence of consonant production errors, including compensatory articulations (CA), in individuals with cleft lip and palate (CLP) who speak Brazilian Portuguese is limited, particularly regarding liquid sounds. The literature primarily reports the occurrence of CA for plosive and fricative sounds, since occurrence of CAs in sounds that require higher amounts of oral air pressure is expected. While the use of CA during liquid sound production is not expected, clinical experience suggests that individuals with CLP present with inadequate backing, elevation, and anteriorization of the tongue as well as tongue clicks during production of /r/ and /l/. Objectives Describe the occurrence of consonant error productions during liquid sounds for children with CLP; compare the occurrence between children operated with the Furlow and von Langenbeck techniques for palatoplasty; and compare the occurrence between children operated between 9-12 months and 15-18 months of age at primary palatoplasty. Material and Methods A sample of 397 children (237 males and 160 females) with operated unilateral CLP was studied. In this group, 163 underwent palatoplasty with the Furlow procedure and 234 with the modified von Langenbeck procedure. Age at palatoplasty was between 9 and 12 months for 189 children and between 15 and 18 months for 208 children. Data about production of /l/, /r/, /R/, /λ/ and consonant clusters /l/ and /r/ were obtained from speech pathology records. Speech pathologists registered the speech findings after an auditory-perceptual evaluation of the participants at the sixth year of age. Results The use of middorsum palatal place (MDP) of production was identified for 2% of the sample. Tongue anteriorization of the /l/ production was observed for 55% of the children. No significant difference was found related to surgical technique, but children operated earlier developed the use of the consonant cluster /r/ sooner than children operated later

  16. 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.

  17. [Value of the use of a vicryl-collagen tape for the treatment of cleft palate. Experimental study in dogs].

    PubMed

    James, I; Campo-Paysaa, A; Chappuis, J P; Dodat, H; Gilly, J; Bilweis, J; Chavrier, Y

    1990-01-01

    The purpose of this study was to evaluate the bone forming capacity of a Vicryl/collagene tape, placed in a defect of the palatal bone. In order to decrease the rate of bucco-nasal fistulaes after primary closure of a cleft palate, the authors carried out an experiment on dogs. First of all, we had to demonstrate the good tolerance of the tape in the buccal cavity. The first group of 5 dogs redieved the tape between buccal mucosae and palatal bone. The tolerance was excellent concerning the 12 biopsies on the mucosae after 1 month; 10 were totally normal and 2 revealed signs of inflammation on the medial incision. Concerning the second group, we needed to know the delay of bone formation of a "neo-palatal" defect; for that reason a 2 cm2 bone resection and a histological observation after 1 month and 1,5 months, in the right palatal bone was performed. Then we performed the same resection in 5 other dogs, and let the vicryl tape in the defect before closing the mucosae. The histological results of the second group showed that the ossification began after 1 month, and after 1.5 months the defect was totally covered by bone. The good results we obtained led us to go on with this experiment even if the low number of dogs included in this series does not allow us to a statistical evaluation. Exact responsibility of both, vicryl and collagene, has to be determined by a longer experiment, before realising the device in child's cleft palate. PMID:2083462

  18. The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1.

    PubMed

    Gorski, S M; Adams, K J; Birch, P H; Friedman, J M; Goodfellow, P J

    1992-05-01

    Human craniofacial malformations are a class of common congenital anomalies in which the etiology is heterogeneous and often poorly understood. To better delineate the molecular basis of craniofacial development, we have undertaken a series of experiments directed toward the isolation of a gene involved in human secondary palate formation. DNA marker linkage studies have been performed in a large British Columbia (B.C.) Native family in which cleft palate segregates as an X-linked trait. We have examined 62 family members, including 15 affected males and 8 obligate carrier females. A previous clinical description of the clefting defect in this kindred included submucous cleft palate and bifid or absent uvula. Our recent reevaluation of the family has indicated that ankyloglossia (tongue-tie) is also a feature of X-linked cleft palate in some of the affected males and carrier females. Ankyloglossia has previously been associated with X-linked cleft palate in an Icelandic kindred in which a gene responsible for cleft palate (CPX) was assigned to the Xq21.3-q22 region between DXYS12 and DXS17. For the B.C. kindred reported here, we have mapped the gene responsible for cleft palate and/or ankyloglossia to a more proximal position on the X chromosome. No recombination was observed between B.C. CPX and the DNA marker DXS72 (peak lod score [Zmax] = 7.44 at recombination fraction [theta] = .0) localized to Xq21.1. Recombination was observed between CPX and PGK1 (Zmax = 7.35 at theta = .03) and between CPX and DXYS1 (Zmax = 5.59 at theta = .04). These recombination events localize B.C. CPX between PGK1 and DXYS1 in the Xq13-q21.31 region. PMID:1570839

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

    PubMed Central

    Mikulewicz, Marcin; Kachniarz, Krzysztof; Chojnacka, Katarzyna

    2015-01-01

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

  20. 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

  1. 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

  2. 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

  3. Reduced birth weight, cleft palate and preputial abnormalities in a cloned dog

    PubMed Central

    2014-01-01

    The aim of the present study was to report a novel developmental abnormality in a cloned dog. A fibroblast cell line was established from an 8-year-old male German shepherd dog. In vivo matured oocytes were retrieved from a large breed dog, and the nucleus was removed from each oocyte. A donor cell was injected into an enucleated oocyte, and the oocyte-cell couplet was fused electrically. After chemical activation, the resulting embryos were transferred into a naturally estrus-synchronized recipient dog, and two cloned pups were delivered by Cesarean section 60 days later. One cloned pup (Clone 1) was healthy, but the other (Clone 2) had a birth weight of only 320 g and cleft palate, failure of preputial closure at the ventral distal part, and persistent penile frenulum. Clone 2 was raised by stomach feeding until Day 40 after birth, where palatoplasty was performed. The abnormalities in external genitalia in Clone 2 resulted in persistent penile extrusion that was surgically corrected. This complex developmental abnormality has not been reported in dogs previously. PMID:24669802

  4. Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

    PubMed Central

    Pengelly, Reuben J.; Arias, Liliana; Martínez, Julio; Upstill-Goddard, Rosanna; Seaby, Eleanor G.; Gibson, Jane; Ennis, Sarah; Collins, Andrew; Briceño, Ignacio

    2016-01-01

    Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of phenotypes. Nonsyndromic clefting has been shown to arise through complex interactions between genetic and environmental factors. However, there is increasing evidence that the broad NSCLP classification may include a proportion of cases showing familial patterns of inheritance and contain highly penetrant deleterious variation in specific genes. Through exome sequencing of multi-case families ascertained in Bogota, Colombia, we identify 28 non-synonymous single nucleotide variants that are considered damaging by at least one predictive score. We discuss the functional impact of candidate variants identified. In one family we find a coding variant in the MSX1 gene which is predicted damaging by multiple scores. This variant is in exon 2, a highly conserved region of the gene. Previous sequencing has suggested that mutations in MSX1 may account for ~2% of NSCLP. Our analysis further supports evidence that a proportion of NSCLP cases arise through monogenic coding mutations, though further work is required to unravel the complex interplay of genetics and environment involved in facial clefting. PMID:27456059

  5. Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

    PubMed

    Pengelly, Reuben J; Arias, Liliana; Martínez, Julio; Upstill-Goddard, Rosanna; Seaby, Eleanor G; Gibson, Jane; Ennis, Sarah; Collins, Andrew; Briceño, Ignacio

    2016-01-01

    Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of phenotypes. Nonsyndromic clefting has been shown to arise through complex interactions between genetic and environmental factors. However, there is increasing evidence that the broad NSCLP classification may include a proportion of cases showing familial patterns of inheritance and contain highly penetrant deleterious variation in specific genes. Through exome sequencing of multi-case families ascertained in Bogota, Colombia, we identify 28 non-synonymous single nucleotide variants that are considered damaging by at least one predictive score. We discuss the functional impact of candidate variants identified. In one family we find a coding variant in the MSX1 gene which is predicted damaging by multiple scores. This variant is in exon 2, a highly conserved region of the gene. Previous sequencing has suggested that mutations in MSX1 may account for ~2% of NSCLP. Our analysis further supports evidence that a proportion of NSCLP cases arise through monogenic coding mutations, though further work is required to unravel the complex interplay of genetics and environment involved in facial clefting. PMID:27456059

  6. Skeletal facial balance and harmony in the cleft patient: Principles and techniques in orthognathic surgery

    PubMed Central

    Salyer, Kenneth E.; Xu, Haisong; Portnof, Jason E.; Yamada, Akira; Chong, David K.; Genecov, Edward R.

    2009-01-01

    The management of the palatal cleft, dental arch, and subsequent maxillary form is a challenge for the craniomaxillofacial surgeon. The purpose of this paper is to present the experience of a senior surgeon (KES) who has treated over 2000 patients with cleft lip and palate. This paper focuses on the experience of a recent series of 103 consecutive orthognathic cases treated by one surgeon with a surgical-orthodontic, speech-oriented approach. It will concentrate on not only correcting the occlusion, as others have described, but also on how a surgeon who was trying to achieve optimal aesthetic balance, harmony, and beauty, approached this problem. PMID:19884671

  7. 3D evaluation of maxillary arches in unilateral cleft lip and palate patients treated with nasoalveolar moulding vs. Hotz's plate.

    PubMed

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

    2016-02-01

    To compare the three-dimensional changes occurring in the maxillary arch during the use of modified pre-surgical nasoalveolar moulding (PNAM) and Hotz's plate. A clinical trial including 32 children with unilateral cleft lip and palate (UCLP), 16 treated with Hotz's plate and 16 with PNAM, was performed. Impressions of the maxillary arches were taken: A. prior to pre-surgical orthopaedics, B. before cheiloplasty and C. after cheiloplasty. Models were digitised using a stereophotogrammetric instrument, and geodesic distances were calculated: anterior, canine and posterior widths of the arch, and lengths and cleft depths of the larger and shorter segments. The time and treatment effects were assessed by two-factor anova. A significant effect of treatment was found for cleft depth at the larger segment: children treated with Hotz's plate had significantly deeper cleft than children treated with PNAM. All distances significantly changed during time: the anterior and canine widths decreased, while the posterior width, the lengths and depths of the cleft segments increased. Significant treatment per time interactions was found. The anterior and canine widths reduced more with PNAM between time points A and B while Hotz's treatment was more effective between B and C. The shorter segment depth increased more between B and C with PNAM, and between A and B with Hotz's plate. During pre-surgical orthopaedics, therapy with PNAM obtained the best results in reducing the width at the anterior segment of the cleft. This treatment gave a lower increase in cleft depth than treatment with Hotz's plate. PMID:26404105

  8. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

    PubMed Central

    Beaty, Terri H; Murray, Jeffrey C; Marazita, Mary L; Munger, Ronald G; Ruczinski, Ingo; Hetmanski, Jacqueline B; Liang, Kung Yee; Wu, Tao; Murray, Tanda; Fallin, M Daniele; Redett, Richard A; Raymond, Gerald; Schwender, Holger; Jin, Shin C; Cooper, Margaret E; Dunnwald, Martine; Mansilla, Maria A; Leslie, Elizabeth; Bullard, Stephen; Lidral, Andrew C; Moreno, Lina M; Menezes, Renato; Vieira, Alexandre R; Petrin, Aline; Wilcox, Allen J; Lie, Rolv T; Jabs, Ethylin W; Wu-Chou, Yah Huei; Chen, Philip K; Wang, Hong; Ye, Xiaoqian; Huang, Shangzhi; Yeow, Vincent; Chong, Samuel S; Jee, Sun Ha; Shi, Bing; Christensen, Kaare; Kimberly, Doheny; Pugh Elizabeth, W; Hua, Ling; Castilla Eduardo, E; Czeizel, Andrew E; Ma, Lian; Field, L Leigh; Brody, Lawrence; Pangilinan, Faith; Mills, James L; Molloy, Anne M; Kirke, Peadar N; Scott, John M; Arcos-Burgos, Mauricio; Scott, Alan F

    2010-01-01

    Case-parent trios were used in a genome wide association study of cleft lip with/without cleft palate (CL/P). SNPs near two genes not previously associated with CL/P [MAFB: most significant SNP rs13041247, with odds ratio per minor allele OR=0.704; 95%CI=0.635,0.778; p=2.05*10−11; and ABCA4: most significant SNP rs560426, with OR=1.432; 95%CI=1.292,1.587; p=5.70*10−12] and two previously identified regions (chr. 8q24 and IRF6) attained genome wide significance. Stratifying trios into European and Asian ancestry groups revealed differences in statistical significance, although estimated effect sizes were similar. Replication studies from several populations showed confirming evidence, with families of European ancestry giving stronger evidence for markers in 8q24 while Asian families showed stronger evidence for MAFB and ABCA4. Expression studies support a role for MAFB in palate development. PMID:20436469

  9. Incidence Assessment of MTHFR C677T and A1298C Polymorphisms in Iranian Non-syndromic Cleft Lip and/or Palate Patients.

    PubMed

    Ebadifar, Asghar; Ameli, Nazila; Khorramkhorshid, Hamid Reza; Salehi Zeinabadi4, Mehdi; Kamali, Kourosh; Khoshbakht, Tayyebeh

    2015-01-01

    Background and aims. The aim of the present study is to determine the incidence of MTHFR C677 T and A1298C muta-tions in Iranian patients with cleft lip and/or cleft palate. Materials and methods. We screened 61 Iranian patients with cleft lip and/or cleft palate for mutations in the two alleles of MTHFR gene associated with cleft lip and/or palate: A1298C and C677T, using Polymerase Chain Reaction following by RFLP. Results. The 677T and 1298C homozygote genotypes showed a frequency of 36.1% and 11.4%, respectively. Combined genotype frequencies in newborns having oral clefts showed that the highest genotype was 677TT/1298AA (22.9%) and 677TT/1298CC genotypes were not observed. Conclusion. The results showed that 65.6% of all patients had at least one T mutant allele in C677T and 58.9% C mutant allele for A1298C. According to the frequencies of homozygosity of mutant alleles, it could be said that MTHFR genotype of 677TT shows a greater role in having oral clefts. PMID:26236436

  10. Incidence Assessment of MTHFR C677T and A1298C Polymorphisms in Iranian Non-syndromic Cleft Lip and/or Palate Patients

    PubMed Central

    Ebadifar, Asghar; Ameli, Nazila; Khorramkhorshid, Hamid Reza; Salehi Zeinabadi4, Mehdi; Kamali, Kourosh; Khoshbakht, Tayyebeh

    2015-01-01

    Background and aims. The aim of the present study is to determine the incidence of MTHFR C677 T and A1298C muta-tions in Iranian patients with cleft lip and/or cleft palate. Materials and methods. We screened 61 Iranian patients with cleft lip and/or cleft palate for mutations in the two alleles of MTHFR gene associated with cleft lip and/or palate: A1298C and C677T, using Polymerase Chain Reaction following by RFLP. Results. The 677T and 1298C homozygote genotypes showed a frequency of 36.1% and 11.4%, respectively. Combined genotype frequencies in newborns having oral clefts showed that the highest genotype was 677TT/1298AA (22.9%) and 677TT/1298CC genotypes were not observed. Conclusion. The results showed that 65.6% of all patients had at least one T mutant allele in C677T and 58.9% C mutant allele for A1298C. According to the frequencies of homozygosity of mutant alleles, it could be said that MTHFR genotype of 677TT shows a greater role in having oral clefts. PMID:26236436

  11. Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.

    PubMed

    Wang, Yirui; Sun, Yimin; Huang, Yongqing; Pan, Yongchu; Jia, Zhonglin; Ma, Lijuan; Ma, Lan; Lan, Feifei; Zhou, Yuxi; Shi, Jiayu; Yang, Xiong; Zhang, Lei; Jiang, Hongbing; Jiang, Min; Yin, Aihua; Cheng, Jing; Wang, Lin; Yang, Yinxue; Shi, Bing

    2016-08-15

    Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects worldwide and is characterized by abnormalities of the orofacial structure. Syndromic CL/P is mainly caused by Mendelian disorders such as Van der Woude Syndrome (VWS). However, >70% of CL/P cases are nonsyndromic, characterized by isolated orofacial cleft without any known syndrome. The etiology of nonsyndromic CL/P (NSCL/P) remains elusive, but it has been suggested that causative genes of syndromic CL/P might also contribute to NSCL/P. As such, the VWS causative gene IRF6 has been extensively studied in NSCL/P. Recently, GRHL3 was identified as another VWS causative gene. Thus, it may be a novel candidate gene for NSCL/P. In the present study, we genotyped 10 tag SNPs covering GRHL3 and performed association analysis with NSCL/P in 504 cases and 455 healthy controls. Our preliminary results identified rs10903078, rs4638975, and a haplotype rs10903078-rs6659209 of GRHL3 that exceeded the significance threshold (p<0.05), though none survived Bonferroni correction for multiple comparisons. As the first study between GRHL3 and NSCL/P, the contribution of this gene to NSCL/P etiology should be interpreted with caution based on existing evidence. Further, the robustness of association between GRHL3 and NSCL/P should be further validated in expanded cohorts. PMID:27129939

  12. Older adults' experiences of living with cleft lip and palate: a qualitative study exploring aging and appearance.

    PubMed

    Hamlet, Claire; Harcourt, Diana

    2015-03-01

    Objective : To explore older adults' experiences of living with cleft lip and/or palate (CL/P), focusing on aging and appearance. Design : An exploratory-descriptive qualitative study. Participants : Individual semi-structured interviews (five via telephone, one face-to-face) conducted with six adults between the ages of 57 and 82 years. Results : Interview transcripts were analyzed using interpretative phenomenological analysis, which resulted in five themes: cleft across the life span, keeping up appearances, being one of a kind, resilience and protection, and cleft in an ever-changing society. A CL/P had an ongoing impact on participants' lives, although its relevance shifted over time and some aspects of life (e.g., romantic relationships, decisions about having children of their own) were particularly affected. Participants seemed at ease living with CL/P as an older adult and considered it an important aspect of their identity, yet they still described feeling isolated at times and had little contact with other people with a cleft. They felt that health care could be more considerate to the needs of older people with a cleft, particularly around dentistry and information provision. Participants thought societal attitudes toward visible differences had changed over the years, but not necessarily for the better. A paradox was evident between reports of being noticed by others because of their cleft and simultaneously feeling invisible or ignored because of their age. Conclusions : These findings have implications for provision of care for older adults with a CL/P and for younger people with a CL/P who will be the older generation of the future. PMID:24853484

  13. Prevalence of cleft lip and palate among four provinces in the West and North-West of Iran

    PubMed Central

    Jalilevand, Nahid; Jalaie, Shohreh

    2015-01-01

    Background: One of the most common anomalies in newborn infants is cleft lip and/or cleft palate (CL/P). In spite of several studies about the prevalence of this, no investigation evaluated this prevalence in the West and North-West of Iran. With due attention to different ethnic groups in this area, the aim of this study is to investigate whether the distribution of CL/P live births varies regionally in this area of Iran. Materials and Methods: A cross-sectional study was conducted using hospital registry records to identify all children born with CL/P. The hospitals with a maternity unit were selected in the capital cities of four provinces in the West and North-West of Iran, East Azarbaijan, Kurdestan, Gilan, and Markazi. The population under study included all infants born alive from 2008 to 2012. Results: During the study period, 107,317 live births were registered in the hospitals with a maternity unit of four cities, and 52 infants (0.485/1000 live births) were born with CL/P. The prevalence in Rasht, Arak, Sanandaj, and Tabriz cities was 0.557, 0.352, 0.503, and 0.559/1000 live births, respectively (P < 0.05), and in cleft types (P < 0.05). Of the 52 infants who were born with CL/P, 24 (46.15%) were girls and 28 (53.85%) were boys (P > 0.05), whereas the prevalence of CL/P based on sex was statistically different among the four provinces (P < 0.05). Conclusion: This study shows regional variations in the birth prevalence of clefts and various cleft types. The different effects of gender on the birth prevalence of CL/P from city-to-city may be explained environmentally and/or by genetic factors affecting the development of oral clefts. PMID:26600829

  14. 2012 American Board of Pediatric Dentistry College of Diplomates annual meeting: the role of pediatric dentists in the presurgical treatment of infants with cleft lip/cleft palate utilizing nasoalveolar molding.

    PubMed

    Ahmed, Mohammad M; Brecht, Lawrence E; Cutting, Court B; Grayson, Barry H

    2012-01-01

    The pediatric dentist plays a crucial role in the treatment and management of infants born with cleft deformities of the lip, alveolus, and palate. At New York University Langone Medical Center in New York City, 70% of infants with cleft lip/cleft palate (CLCP) are detected on prenatal ultrasound analysis. Thus, the role of the pediatric dentist can start as early as prenatal counseling. Nasoalveolar molding (NAM) is delivered during the first 3 to 5 months of life. During this stage of treatment, the pediatric dentist establishes the foundation of the “cleft dental” home and initiates the first stage of anticipatory guidance. Consequently, parents are educated and motivated to initiate oral hygiene care upon eruption of the first primary teeth. The purpose of this paper was to describe the role of the pediatric dentist in performing nasoalveolar molding and also describe its indications, appliance design, fabrication, biomechanics, complications, and patient management. PMID:23387096

  15. Assessment of Nutrient Intake in Cleft Lip and Palate Children After Surgical Correction

    PubMed Central

    GOPINATH, Vellore Kannan

    2013-01-01

    This research aimed to compare the nutrient intake of children with cleft lip and palate (CLP) with that of normal children (without CLP) in the same age groups. The study was conducted at the School of Dental Sciences, Universiti Sains Malaysia, Kelantan, Malaysia. A total of 139 children, of both sexes, from two to six years of age, either with CLP (40 children) or without CLP (99 children), were selected. The CLP and non-CLP children were grouped according to age, which is a key determinant of nutrient intake. Children in subgroup I were between the ages of 2 and 4 years, the group comprising 48 normal children of mean age 39.85 months (SD 7.1), and 20 CLP children of mean age 37.05 months (SD 5.9). Children in subgroup II were those over 4 years and up to 6 years old, and the group comprised 51 normal children, of mean age 64.16 months (SD 7.9), and 20 CLP children of mean age 56.75 months (SD 9.9). A comparative cross-sectional study was conducted to evaluate nutrient intake in subgroups I and II, using a 24 hours diet recall method. The nutrient intake of CLP children was shown to have no significant differences from that of normal children. A comparison of intake per day with Recommended Dietary Allowances (RDA) for Malaysian children showed that the consumption of nutrients was inadequate in both the normal and CLP children, in both age sub-groups. PMID:24643339

  16. 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

  17. Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate - A Danish registry study

    SciTech Connect

    Christensen, K. |; Mitchell, L.E. |

    1996-01-01

    The finding of an association between genetic variation at the transforming growth-factor alpha (TGFA) locus and nonsyndromic isolated cleft palate (CP) represents a potentially important breakthrough in our understanding of this condition. The present study was undertaken to assess the feasibility of detecting linkage to putative CP-susceptibility loci, such as TGFA. To this end, the familial recurrence pattern for CP was evaluated to determine the most likely mode of inheritance for this condition. The study took advantage of the high ascertainment and uniform registration of CP in Denmark. In addition, the study utilized estimates of familial recurrence that were obtained by register linkage and, hence, were not subject to either recall bias or the potentially biasing influence of nonresponders. The recurrence risks for first-, second-, and third-degree relatives of 1,364 nonsyndromic CP probands were estimated to be 2.74% (72/2,628), 0.28% (3/1,068), and 0.00% (0/360), respectively. These estimates are close to published estimates based on questionnaire and interview data. The population prevalence for nonsyndromic CP was, however, found to be considerable higher than usually reported (0.058% [1,456/2,523,023]). Analyses of these and previously published data, using the method presented by Risch, indicated that major-locus or additive multilocus inheritance of CP is unlikely. The familial recurrence pattern was, however, consistent with CP being determined by several interacting loci. Under such a model, a single locus accounting for more than a sixfold increase in the risk to first-degree relatives of CP probands is unlikely, whereas a single locus accounting for a threefold increase provided a good fit to the data. Such a locus could be detected in a realistic sample of affected sib pairs. 26 refs., 3 tabs.

  18. The 19-bp deletion polymorphism of dihydrofolate reductase (DHFR) and nonsyndromic cleft lip with or without cleft palate: evidence for a protective role

    PubMed Central

    RAFIGHDOOST, Firoozeh; RAFIGHDOOST, Amir; RAFIGHDOOST, Houshang; RIGI-LADEZ, Mohammad-Ayoob; HASHEMI, Mohammad; ESKANDARI-NASAB, Ebrahim

    2015-01-01

    Objective Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) are among the most common congenital birth defects worldwide. Several lines of evidence point to the involvement of folate, as well as folate metabolizing enzymes in risk reduction of orofacial clefts. Dihydrofolate reductase (DHFR) enzyme participates in the metabolic cycle of folate and has a crucial role in DNA synthesis, a fundamental feature of gestation and development. A functional polymorphic 19-bp deletion within intron-1 of DHFR has been associated with the risk of common congenital malformations. The present study aimed to evaluate the possible association between DHFR 19-bp deletion polymorphism and susceptibility to NS-CL/P in an Iranian population. Material and Methods The current study recruited 100 NS-CL/P patients and 100 healthy controls. DHFR 19-bp deletion was determined using an allele specific-PCR method. Results We observed the DHFR 19-bp homozygous deletion genotype (D/D) vs. homozygous wild genotype (WW) was more frequent in controls than in NS-CL/P patients (25% vs. 13%), being associated with a reduced risk of NS-CL/P in both codominant (OR=0.33, P=0.027) and recessive (OR=0.45, P=0.046) tested inheritance models. We also stratified the cleft patients and reanalyzed the data. The association trend for CL+CL/P group compared to the controls revealed that the DD genotype in both codominant (OR=0.30, P=0.032) and recessive models (OR=0.35, P=0.031) was associated with a reduced risk of CL+CL/P. Conclusions Our results for the first time suggested the DHFR 19-bp D/D genotype may confer a reduced risk of NS-CL/P and might act as a protective factor against NS-CL/P in the Iranian subjects. PMID:26221921

  19. 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

  20. Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

    PubMed Central

    Gamba, Bruno F.; Rosenberg, Carla; Costa, Silvia; Richieri-Costa, Antonio; Ribeiro-Bicudo, Lucilene A.

    2015-01-01

    The chromosome interval 10p15.3p14 harbors about a dozen genes. This region has been implicated in a few well-known human phenotypes, namely HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) and DGS2 (DiGeorge syndrome 2), but a number of variable phenotypes have also been reported. Cleft lip/palate seems to be a very unusual finding within the clinical spectrum of patients with this deletion. Here, we report a male child born with short stature, cleft lip/palate, and feeding problems who was found to have a 5.6-Mb deletion at 10p15.3p14. PMID:25852446

  1. Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.

    PubMed

    Mangold, Elisabeth; Böhmer, Anne C; Ishorst, Nina; Hoebel, Ann-Kathrin; Gültepe, Pinar; Schuenke, Hannah; Klamt, Johanna; Hofmann, Andrea; Gölz, Lina; Raff, Ruth; Tessmann, Peter; Nowak, Stefanie; Reutter, Heiko; Hemprich, Alexander; Kreusch, Thomas; Kramer, Franz-Josef; Braumann, Bert; Reich, Rudolf; Schmidt, Gül; Jäger, Andreas; Reiter, Rudolf; Brosch, Sibylle; Stavusis, Janis; Ishida, Miho; Seselgyte, Rimante; Moore, Gudrun E; Nöthen, Markus M; Borck, Guntram; Aldhorae, Khalid A; Lace, Baiba; Stanier, Philip; Knapp, Michael; Ludwig, Kerstin U

    2016-04-01

    Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. Recently, ∼5% of VWS-affected individuals were identified with mutations in the grainy head-like 3 gene (GRHL3). To investigate GRHL3 in nonsyndromic clefting, we sequenced its coding region in 576 Europeans with nsCL/P and 96 with nsCPO. Most strikingly, nsCPO-affected individuals had a higher minor allele frequency for rs41268753 (0.099) than control subjects (0.049; p = 1.24 × 10(-2)). This association was replicated in nsCPO/control cohorts from Latvia, Yemen, and the UK (pcombined = 2.63 × 10(-5); ORallelic = 2.46 [95% CI 1.6-3.7]) and reached genome-wide significance in combination with imputed data from a GWAS in nsCPO triads (p = 2.73 × 10(-9)). Notably, rs41268753 is not associated with nsCL/P (p = 0.45). rs41268753 encodes the highly conserved p.Thr454Met (c.1361C>T) (GERP = 5.3), which prediction programs denote as deleterious, has a CADD score of 29.6, and increases protein binding capacity in silico. Sequencing also revealed four novel truncating GRHL3 mutations including two that were de novo in four families, where all nine individuals harboring mutations had nsCPO. This is important for genetic counseling: given that VWS is rare compared to nsCPO, our data suggest that dominant GRHL3 mutations are more likely to cause nonsyndromic than syndromic CPO. Thus, with rare dominant mutations and a common risk variant in the coding region, we have identified an important contribution for GRHL3 in nsCPO. PMID:27018475

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

    PubMed Central

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

    2011-01-01

    The aim of this study was to examine the consonant-vowel co-occurrence patterns predicted by the Frame-Content theory in 16 nine-month-old babies with unrepaired cleft palatecleft lip) and 16 age-matched non-cleft babies. Babble from these babies was phonetically transcribed and grouped according to the intrasyllabic predictions of the theory (labial-central, alveolar-front, and velar-back). Both groups demonstrated the three consonant-vowel co-occurrence patterns predicted by the Frame-Content theory. Other patterns not predicted by the Frame-Content theory emerged as strong patterns as well. PMID:21889772

  3. A Comparison of Three-Dimensional and Two-Dimensional Cephalometric Evaluations of Children with Cleft Lip and Palate

    PubMed Central

    Tulunoglu, Ozlem; Esenlik, Elcin; Gulsen, Ayse; Tulunoglu, Ibrahim

    2011-01-01

    Objectives: The aim of this retrospective study was to compare the consistency of orthodontic measurement performed on cephalometric films and 3D CT images of cleft lip and palate (CLP) patients. Methods: The study was conducted with 2D radiographs and 3D CT images of 9 boys and 6 girls aged 7–12 with CLP. 3D reconstructions were performed using MIMICS software. Results: Frontal analysis found statistical differences for all parameters except occlusal plane tilt (OcP-tilt) and McNamara analysis found statistical differences in 2D and 3D measurements for all parameters except ANS-Me and Co-Gn; Steiner analysis found statistical differences for all parameters except SND, SNB and Max1-SN. Intra-group variability in measurements was also very low for all parameters for both 2D and 3D images. Conclusions: Study results indicate significant differences between measurements taken from 2D and 3D images in patients with cleft lip and palate. PMID:21912501

  4. Use of a modified Furlow Z-plasty as a secondary cleft palate repair procedure to reduce velopharyngeal insufficiency.

    PubMed

    Reddy, R R; Reddy, S G; Banala, B; Bronkhorst, E; Kummer, A W; Kuijpers-Jagtman, A M; Bergé, S J

    2016-02-01

    Cleft palate repair is done to allow for normal speech by separating the oral and nasal cavities and creating a functioning velopharyngeal valve. However, despite cleft palate repair, some patients demonstrate velopharyngeal insufficiency (VPI). An attempt was made to determine the effectiveness of a modified secondary Furlow Z-plasty in improving VPI. Fifty-five children aged between 12 and 15 years, with postoperative VPI following primary palatoplasty, were included in the study. These children underwent a modified Furlow Z-plasty. Nasometry was done to determine the change in velopharyngeal function due to the secondary Furlow Z-plasty by comparing the preoperative with the 1-year postoperative nasalance scores. A test-retest study was performed to determine the reliability of the nasometric measures. Reliability measurements of the nasometer passages revealed good reliability for 18 out of the 25 speech passages. There was a statistically significant reduction in VPI at 1 year postoperative in patients who were treated with the modified Furlow Z-plasty, with a P-value of <0.001 in all passages, except velar plosives, which had a P-value of 0.002. Patients with VPI after primary palatoplasty and treated using a modified Furlow Z-plasty had significantly lower nasalance scores at 1 year postoperative, indicating significantly improved velopharyngeal function. PMID:26253843

  5. Assessment of the Airway Characteristics in Children with Cleft Lip and Palate using Cone Beam Computed Tomography

    PubMed Central

    Marwah, Nikhil

    2016-01-01

    ABSTRACT Objective: The aim of our study is to use cone beam computed tomography (CBCT) to assess the dimensional changes in the nasopharyngeal soft-tissue characteristics in children of Indian origin with repaired cleft lip and palate (CLP) and to compare the results with patients with ideal occlusion. Materials and methods: A sample of 20 children (10 girls, 10 boys) with repaired CLP was selected. Cone beam computed tomography scans were taken to measure the nasopharyngeal airway changes in terms of linear measurements and sagittal cross-sectional areas. Error analysis was performed to prevent systematic or random errors. Independent means t-tests and Pearson correlation analysis were used to evaluate sex differences and the correlations among the variables. Results: Nasopharyngeal soft-tissue characteristics were different in the control and the study groups. Subjects with repaired CLP had lesser lower aerial width, lower adenoidal width and lower airway width. The upper airway width was also significantly lesser. The retropalatal and the total airway area were significantly greater in the control group. Conclusion: The narrow pharyngeal airway in patients with CLP might result in functional impairment of breathing in patients. Further investigations are necessary to clarify the relationship between pharyngeal structure and airway function in patients with CLP. How to cite this article: Agarwal A, Marwah N. Assessment of the Airway Characteristics in Children with Cleft Lip and Palate using Cone Beam Computed Tomography. Int J Clin Pediatr Dent 2016;9(1):5-9. PMID:27274147

  6. Comparison of videonasoendoscopy and auditory-perceptual evaluation of speech in individuals with cleft lip/palate

    PubMed Central

    Paniagua, Lauren Medeiros; Signorini, Alana Verza; Costa, Sady Selaimen da; Collares, Marcus Vinicius Martins; Dornelles, Sílvia

    2013-01-01

    Summary Introduction: The velopharyngeal sphincter (VPS) is a muscle belt located between the oropharynx and the nasopharynx. Investigations of velopharyngeal function should include an auditory-perceptual evaluation and at least 1 instrument-based evaluation such as videonasoendoscopy. Aim: To compare the findings of auditory-perceptual evaluation (hypernasality) and videonasoendoscopy (gap size) in individuals with cleft lip/palate. Method: This was a retrospective, cross-sectional study assessing 49 subjects, of both sexes, with cleft lip/palate followed up at the Otorhinolaryngology Service and the Speech Therapy outpatient clinic of Hospital de Clínicas de Porto Alegre (HCPA). The results from the auditory-perceptual evaluation and the videonasoendoscopy test were compared with respect to the VPS gap size. Results: Subjects with moderate/severe hypernasality had more severe velopharyngeal closure impairment than those with a less severe condition. The interaction between hypernasality severity and the presence of other speech disorders (p = 0.035), whether compensatory and/or obligatory, increased the likelihood of having a moderate-to-large gap in the velopharyngeal closure. Conclusions: We observed an association between the findings of these 2 evaluation methods. PMID:25992023

  7. Retinoic Acid, GABA-ergic, and TGF-β Signaling Systems Are Involved in Human Cleft Palate Fibroblast Phenotype

    PubMed Central

    Baroni, Tiziano; Bellucci, Catia; Lilli, Cinzia; Pezzetti, Furio; Carinci, Francesco; Becchetti, Ennio; Carinci, Paolo; Stabellini, Giordano; Calvitti, Mario; Lumare, Eleonora; Bodo, Maria

    2006-01-01

    During embryogenesis, a complex interplay between extracellular matrix (ECM) molecules, regulatory molecules, and growth factors mediates morphogenetic processes involved in palatogenesis. Transforming growth factor-β (TGF-β), retinoic acid (RA), and γ-aminobutyric acid (GABA)ergic signaling systems are also potentially involved. Using [3H]glucosamine and [35S]methionine incorporation, anion exchange chromatography, semiquantitative radioactive RT-PCR, and a TGF-β binding assay, we aimed to verify the presence of phenotypic differences between primary cultures of secondary palate (SP) fibroblasts from 2-year-old subjects with familial nonsyndromic cleft lip and/or palate (CLP-SP fibroblasts) and age-matched normal SP (N-SP) fibroblasts. The effects of RA—which, at pharmacologic doses, induces cleft palate in newborns of many species—were also studied. We found an altered ECM production in CLP-SP fibroblasts that synthesized and secreted more glycosaminoglycans (GAGs) and fibronectin (FN) compared with N-SP cells. In CLP-SP cells, TGF-β3 mRNA expression and TGF-β receptor number were higher and RA receptor-α (RARA) gene expression was increased. Moreover, we demonstrated for the first time that GABA receptor (GABRB3) mRNA expression was upregulated in human CLP-SP fibroblasts. In N-SP and CLP-SP fibroblasts, RA decreased GAG and FN secretion and increased TGF-β3 mRNA expression but reduced the number of TGF-β receptors. TGF-β receptor type I mRNA expression was decreased, TGF-β receptor type II was increased, and TGF-β receptor type III was not affected. RA treatment increased RARA gene expression in both cell populations but upregulated GABRB3 mRNA expression only in N-SP cells. These results show that CLP-SP fibroblasts compared with N-SP fibroblasts exhibit an abnormal phenotype in vitro and respond differently to RA treatment, and suggest that altered crosstalk between RA, GABAergic, and TGF-β signaling systems could be involved in human cleft

  8. 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)

  9. Evidence for an association between nonsyndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4

    SciTech Connect

    Mitchell, L.E.; Healey, S.C.; Chenevix-Trench, G. |

    1995-11-01

    Recent studies suggest that the familial aggregation of nonsyndromic cleft lip with or without cleft palate (CL{+-}P) is likely to be attributable to the effects of several susceptibility loci, acting in a multiplicative fashion. Two potential CL{+-}P susceptibility loci (CSL), transforming growth factor alpha (TGFA) and retinoic acid receptor (RARA), have been identified through association studies. In addition, recent evidence of linkage between CL{+-}P and two markers (D4S175 and D4S192) in the region 4q25-4q31.3 raised the possibility that a CSL, with a larger effect than either TGFA or RARA, may reside within this region of the human genome. The present analyses were undertaken to determine whether D4S175 or D4S192 is significantly associated with CL{+-}P in a sample of unrelated patients that have previously provided evidence of associations between CL{+-}P and both TGFA and RARA. The results of these analyses provide further, tentative, evidence for the presence of a CSL locus on the long arm of chromosome 4 and help to refine the location of this locus in the region of D4S175 and D4S192. 28 refs., 4 tabs.

  10. A clinical and demographic profile of the cleft lip and palate in Sub-Himalayan India: A hospital-based study

    PubMed Central

    Dvivedi, Jyoti; Dvivedi, Sanjay

    2012-01-01

    Objectives: To study the cleft lip and cleft palate in the poverty stricken Sub-Himalayan Garhwal region of India, being a commonly seen congenital abnormality and scarcity of studies about the demography of cleft in this region. Design: A prospective cohort observational case series was performed on 4657 cleft patients at a Tertiary care Hospital in Dehradun, India, over a period of 5 years. Outcome measures: The authors investigated the differences between age and sex with cleft status and family history of clefts, birth order, religion, socioeconomic status, parent literacy, source of information for treatment, haematological investigations showing the status of infection and coagulation in such children and satisfaction after treatment. Results: Seventy-two percent parents of cleft lip patients were illiterate, and only 8% were graduates, the majority of patients were from the low socioeconomic class. The siblings of 1.1% of the cleft patients had similar deformity. Anemia was seen in 83.16% cases which was commonly microcytic hypochromic type and eosinophilia was seen in 25.50% of cases. In the coagulation profile, International Nationalized Ratio was found to be raised in 52.12%. Almost 95% of the families were fully satisfied by the treatment and results. Conclusion: This study will provide baseline information on the status of these less privileged cleft patients in this mountainous region for future reference to health workers. PMID:22754165

  11. Feeling Normal? Long-Term Follow-up of Patients with a Cleft Lip-Palate after Rhinoplasty with the Derriford Appearance Scale (DAS-59).

    PubMed

    Albers, Andreas E; Reichelt, Andreas C; Nolst-Trenité, Gilbert J; Menger, Dirk Jan

    2016-04-01

    The stigma of nasal deformity due to a congenital cleft lip-palate has an undeniable influence on the affected patient's life. It is therefore of interest to investigate if efforts to reduce esthetic and functional impairments by rhinoplasty (single or multiple) can result in an increased satisfaction with appearance and a self-perception similar to the noncleft population. Retrospective scoring before and after rhinoplasty using the validated Derriford Appearance Scale (DAS-59) and subsequent statistical evaluation and comparison to datasets available in the literature for further classification was used. Of the 61 patients who underwent at least one rhinoplasty, 26 responded to all questions. The mean age of responders was approximately 30 years of age and the male:female ratio was 1:1.2. The scale showed a significant overall improvement after surgery. The full scale and all subscale scores of the DAS-59 were significantly reduced after surgery demonstrating an improvement in the respective categories. Most importantly, if postoperative results were compared with a population concerned and unconcerned about appearance, no difference "facial self-consciousness" of appearance was apparent. Also postoperative subscores for "general self-consciousness" (GSC) and "social self-consciousness" of appearance (SSC) showed no difference from those obtained from the population concerned about appearance. The postoperative subscore for "sexual and bodily self-consciousness" of appearance (SBSC) indicated improvement beyond the level found in the concerned control population. Due to only a low improvement in the difference compared with the subscore representing a "negative self-concept," a statistically significant difference to the concerned population remained, possibly indicating that therapy beyond surgery is needed for improvement. After rhinoplasty, the investigated group of cleft lip-palate patients with nasal deformities showed an improvement in their self

  12. Structure and Function of the Superior Temporal Plane in Adult Males with Cleft Lip and Palate: Pathologic Enlargement with No Relationship to Childhood Hearing Deficits

    ERIC Educational Resources Information Center

    Shriver, A. S.; Canady, J.; Richman, L.; Andreasen, N. C.; Nopoulos, P.

    2006-01-01

    Background: In a previous study from our lab, adult males with non-syndromic cleft lip and/or palate (NSCLP) were shown to have significantly lower temporal lobe gray matter volume than matched controls. The current study was designed to begin a regional analysis of specific subregions of the temporal lobe. The superior temporal plane (STP) is a…

  13. RETINOIC ACID INDUCTION OF CLEFT PALATE IN EGF AND TGF-ALPHA KNOCKOUT MICE: STAGE SPECIFIC INFLUENCES OF GROWTH FACTOR EXPRESSION

    EPA Science Inventory

    ABBOTT, B. D., LEFFLER, K.E. AND BUCKALEW, A.R, Reproductive Toxicology Division, NHEERL, ORD, US EPA, Research Triangle Park, North Carolina. Retinoic acid induction of cleft palate (CP) in EGF and TGF knockout mice: Stage specific influences of growth factor expression.
    <...

  14. Causal Inferences from Mining ToxCast Data and the Biomedical Literature for Molecular Pathways and Cellular Processes in Cleft Palate (SOT)

    EPA Science Inventory

    Sixty-five chemicals in the ToxCast high-throughput screening (HTS) dataset have been linked to cleft palate based on data from ToxRefDB (rat or rabbit prenatal developmental toxicity studies) or from literature reports. These compounds are structurally diverse and thus likely to...

  15. Is Presurgery and Early Postsurgery Performance Related to Speech and Language Outcomes at 3 Years of Age for Children with Cleft Palate?

    ERIC Educational Resources Information Center

    Chapman, Kathy

    2004-01-01

    This study examined the relationship between presurgery speech measures and speech and language performance at 39 months as well as the relationship between early postsurgery speech measures and speech and language performance at 39 months of age. Fifteen children with cleft lip and palate participated in the study. Spontaneous speech samples were…

  16. RETROGRADE INTUBATION VIA LARYNGEAL MASK AIRWAY IN A PAEDIATRIC PATIENT WITH FALLOT-TYPE VENTRICULAR SEPTAL DEFECT AND CLEFT PALATE DEFORMITY.

    PubMed

    Ciftci, Taner; Erbatur, Serkan

    2016-02-01

    We report the case ofa pediatric patient with tetralogy of Fallot (TOF) and cleft palate deformity with difficult intubation in which a laryngeal mask airway (LMA) was used and converted into an endotracheal tube through retrograde intubation. The patient with TOF was scheduled for repair of the congenital bilateral cleft lip and palate. Inhalational induction with 4% sevoflurane was started. Conventional tracheal intubation was impossible because the patient had a difficult airway, and the procedure could cause severe cyanosis and respiratory distress. An LMA was inserted to maintain ventilation and anesthesia and to facilitate intubation. Retrograde intubation and a catheter mount were used to convert the LMA into a conventional endotracheal tube without difficulty. Airway management for patients with TOF and cleft palate deformity is not clear. Retrograde intubation permits replacing an LMA with an endotracheal tube. This method enables maintaining the airway until the LMA is exchanged with an endotracheal tube. This technique seems useful to facilitate difficult airway intubation in pediatric patients with TOF and cleft palate deformity. PMID:27382820

  17. SPEECH HABILITATION IN THE SCHOOLS FOR THE CLEFT PALATE CHILD, THE NEW YORK STATE EDUCATION DEPARTMENT PROCEEDINGS (MARCH 17-20, 1965).

    ERIC Educational Resources Information Center

    VAN HATTUM, ROLLAND J.; AND OTHERS

    DESIGNED TO STRENGTHEN THE SKILLS, COMPETENCIES, AND KNOWLEDGE OF SPEECH CORRECTION TEACHERS, THIS SUMMARY OF A SPECIAL STUDY INSTITUTE CONTAINS A SERIES OF PRESENTATIONS. SPEAKERS DISCUSS ASPECTS OF CLEFT PALATE INCLUDING SPEECH, SPEECH ANATOMY, SURGICAL AND DENTAL MANAGEMENT, DIAGNOSIS, AND SPEECH THERAPY. SPEAKERS REPRESENT MEDICAL AND…

  18. Proceedings of the Conference: Communicative Problems in Cleft Palate (Washington, D.C., July 10-12, 1963). American Speech and Hearing Association Reports, Number 1.

    ERIC Educational Resources Information Center

    Green, Diane, Ed.

    Introductory material by Jack Matthews points out common interests between the fields of dentistry and communication disorders. Physical aspects of cleft palate are explored in papers concerning anatomy and growth, by Robert F. Hagerty; infant respiratory actions, by James F. Bosma, H.M. Truby, and John Lind; contemporary dental research, by…

  19. Current Training and Continuing Education Needs of Preschool and School-Based Speech-Language Pathologists regarding Children with Cleft Lip/Palate

    ERIC Educational Resources Information Center

    Bedwinek, Anne P.; Kummer, Ann W.; Rice, Gale B.; Grames, Lynn Marty

    2010-01-01

    Purpose: The purpose of this study was to obtain information regarding the education and experience of preschool and school-based speech-language pathologists (SLPs) regarding the assessment and treatment of children born with cleft lip and/or palate and to determine their continuing education needs in this area. Method: A 16-item mixed-methods…

  20. Gender Issues in Parenting Cleft Lip and Palate Babies in Southern Nigeria: A Study of the University of Benin Teaching Hospital

    ERIC Educational Resources Information Center

    Umweni, A. A.; Okeigbemen, S. A.

    2009-01-01

    There is a scarcity of studies on gender issues in parenting cleft lip and palate (CLAP) babies. The birth of a CLAP child presents an immediate visible handicap that is distressing to parents. The aims and objectives of this study are to determine the influence of gender on the attitude of parents on the birth of CLAP babies, to articulate the…

  1. 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

  2. Activation of Notch1 inhibits medial edge epithelium apoptosis in all-trans retinoic acid-induced cleft palate in mice.

    PubMed

    Zhang, Yadong; Dong, Shiyi; Wang, Weicai; Wang, Jianning; Wang, Miao; Chen, Mu; Hou, Jinsong; Huang, Hongzhang

    2016-08-26

    Administration of all-trans retinoic acid (atRA) on E12.0 (embryonic day 12.0) leads to failure of medial edge epithelium (MEE) disappearance and cleft palate. However, the molecular mechanism underlying the relationship between atRA and MEE remains to be identified. In this study, atRA (200 mg/kg) administered by gavage induced a 75% incidence of cleft palate in C57BL/6 mice. Notch1 was up-regulated in MEE cells in the atRA-treated group compared with the controls at E15.0, together with reduced apoptosis and elevated proliferation. Next, we investigated the mechanisms underlying atRA, Notch1 and MEE degradation in palate organ culture. Our results revealed that down-regulation of Notch1 partially rescued the inhibition of atRA-induced palate fusion. Molecular analysis indicated that atRA increased the expression of Notch1 and Rbpj and decreased the expression of P21. In addition, depletion of Notch1 expression decreased the expression of Rbpj and increased the expression of P21. Moreover, inhibition of Rbpj expression partially reversed atRA-induced MEE persistence and increased P21 expression. These findings demonstrate that atRA inhibits MEE degradation, which in turn induces a cleft palate, possibly through the Notch1/RBPjk/P21 signaling pathway. PMID:27343556

  3. Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.

    PubMed

    Enriquez, Annabelle; Krivanek, Michael; Flöttmann, Ricarda; Peters, Hartmut; Wilson, Meredith

    2016-09-01

    We describe two sibling fetuses with urogenital abnormalities detected by prenatal ultrasound, in which post-delivery examination showed split hand and foot malformation, and bilateral cleft lip and palate. These findings are consistent with ectrodactyly-ectodermal dysplasia-cleft lip with or without cleft palate syndrome (EEC). Both fetuses were found to have the same missense mutation in TP63 (c.1051G > A; p.D351N). Parental clinical examinations and lymphocyte DNA analyses were normal. This report illustrates the potential severity of urogenital defects in TP63-related disorders, which may be detectable with fetal ultrasonography. It highlights the need to counsel for the possibility of germline mosaicism in TP63-associated disorders. © 2016 Wiley Periodicals, Inc. PMID:27351625

  4. Reading Achievement in Boys With Non-Syndromic Cleft Palate Only: Relationship to Neuropsychological Skill and Neurocircuitry.

    PubMed

    Conrad, Amy L; Richman, Lynn; Nopoulos, Peggy

    2015-01-01

    Reading achievement and neural activation during a reading task were evaluated among boys with isolated cleft palate only (iCP) in comparison to unaffected controls. Ten boys with iCP and 10 unaffected boys between the ages of 8 and 16 years old were assessed. Standardized assessments of intelligence and reading achievement were administered and participants underwent a block-design functional magnetic resonance imaging protocol using non-word rhyming and judgment of line tasks. Among the 10 boys with iCP, reading fluency correlated with phonological awareness and visual memory. Neural activation was increased in regions of the brain associated with a non-fluent/dyslexic reading pattern. PMID:26934420

  5. Submucous Clefts

    MedlinePlus

    ... properly and the individual is at risk for speech problems, middle ear disease, and swallowing difficulties. However, ... for a submucous cleft palate is abnormal nasal speech. Other symptoms may include persistent middle ear disease ...

  6. Adults' Narratives of Growing up With a Cleft Lip and/or Palate: Factors Associated With Psychological Adjustment.

    PubMed

    Stock, Nicola Marie; Feragen, Kristin Billaud; Rumsey, Nichola

    2016-03-01

    Background Growing up with a cleft lip and/or palate presents a number of challenges for those affected and their families. Understanding why some individuals cope well while others struggle is key to psychological research in this field. A better appreciation of the factors and processes that contribute to psychological adjustment to cleft lip and/or palate (CL/P) from the patient perspective would be of value to both researchers and clinicians. Design Qualitative data elicited from individual interviews with 52 adults born with CL/P. Results Inductive thematic analysis identified three main themes: "background" factors (age, gender, sexual orientation, culture, additional conditions, socioeconomic status, and adoption), "external" factors (treatment autonomy, familial coping and support, salience, public understanding, psychological input, and peer support), and "internal" psychological factors (perceptions of difference, noticeability and teasing, social confidence, internalization of beauty ideals, valence, expectations of treatment, responding to challenges, social comparisons, acceptance, faith, dispositional style, and recognition of strengths and positive growth). Conclusions The number and breadth of factors identified in this study are testament to the importance of psychology in the field of CL/P and may offer guidance in relation to developing and assessing the value of psychological interventions. There is a clear role for psychologists in tackling appearance-related concerns, designing materials, supporting patient decision making, and improving social interaction, as well as providing specialist psychological support. The findings illustrate the potential degree of individual variation in perspectives and offer insight into the conflicting results found within current literature. PMID:25650758

  7. [Significant association between nonsyndromic cleft lip with or without cleft palate and IRF6rs2235371 polymorphism in Iranian familiar population].

    PubMed

    Jafary, F; Nadeali, Z; Salehi, M; Hosseinzadeh, M; Sedghi, M; Gholamrezapour, T; Nouri, N

    2015-01-01

    According to previous studies the IRF6rs2235371 polymorphism is a risk factor for NSCL/P in different populations. However our recent study revealed no correlation between IRF6rs642961 and NSCL/P in our population. In the present study we have investigated the relationship between IRF6rs2235371 and NSCL/P in same group to determine whether IRF6rs2235371 is a risk factor in our population as well. We analyzed the IRF6rs2235371 genotype in a subset of the Iranian population using the Polymerase Chain Reaction technique. The PCR products were digested with DpnII. Chi-square test was applied to analyze the obtained result. The patients were supplied by the Cleft Lip and Palate Clinic of the Isfahan University of Medical Science. A clinician ascertained the non-syndromic status of all patients and that no clefting drugs, ethanol or smoking were abused during pregnancy. The control group was selected from unaffected subjects with no history of NSCL/P in their families. 107 patients from 107 Iranian unrelated families and 100 controls were screened. There was a significant association between the IRF6rs2235371 genotype sand an increased NSCL/P risk. Our data indicates that the IRF6rs2235371 variation can increase the risk of NSCL/P in the Iranian population. This result is in contrast with the results of our recent study on the correlation between the IRF6rs642961 polymorphism and NSCL/P in the same group. PMID:26710774

  8. Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Mitra, Amit K.; Stessman, Holly A. F.; Schaefer, Robert J.; Wang, Wen; Myers, Chad L.; Van Ness, Brian G.; Beiraghi, Soraya

    2016-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital birth defects. NSCL/P is a complex multifactorial disease caused by interactions between multiple environmental and genetic factors. However, the causal single nucleotide polymorphism (SNP) signature profile underlying the risk of familial NSCL/P still remains unknown. We previously reported a 5.7-Mb genomic region on chromosome 18q21.1 locus that potentially contributes to autosomal dominant, low-penetrance inheritance of NSCL/P. In the current study, we performed exome sequencing on 12 familial genomes (six affected individuals, two obligate carriers, and four seemingly unaffected individuals) of a six-generation family to identify candidate SNPs associated with NSCL/P risk. Subsequently, targeted bidirectional DNA re-sequencing of polymerase chain reaction (PCR)-amplified high-risk regions of MYO5B gene and sequenom iPLEX genotpying of 29 candidate SNPs were performed on a larger set of 33 members of this NSCL/P family (10 affected + 4 obligate carriers + 19 unaffected relatives) to find SNPs significantly associated with NSCL/P trait. SNP vs. NSCL/P association analysis showed the MYO5B SNP rs183559995 GA genotype had an odds ratio of 18.09 (95% Confidence Interval = 1.86–176.34; gender-adjusted P = 0.0019) compared to the reference GG genotype. Additionally, the following SNPs were also found significantly associated with NSCL/P risk: rs1450425 (LOXHD1), rs6507992 (SKA1), rs78950893 (SMAD7), rs8097060, rs17713847 (SCARNA17), rs6507872 (CTIF), rs8091995 (CTIF), and rs17715416 (MYO5B). We could thus identify mutations in several genes as key candidate SNPs associated with the risk of NSCL/P in this large multi-generation family. PMID:27242896

  9. Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate.

    PubMed

    Mitra, Amit K; Stessman, Holly A F; Schaefer, Robert J; Wang, Wen; Myers, Chad L; Van Ness, Brian G; Beiraghi, Soraya

    2016-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital birth defects. NSCL/P is a complex multifactorial disease caused by interactions between multiple environmental and genetic factors. However, the causal single nucleotide polymorphism (SNP) signature profile underlying the risk of familial NSCL/P still remains unknown. We previously reported a 5.7-Mb genomic region on chromosome 18q21.1 locus that potentially contributes to autosomal dominant, low-penetrance inheritance of NSCL/P. In the current study, we performed exome sequencing on 12 familial genomes (six affected individuals, two obligate carriers, and four seemingly unaffected individuals) of a six-generation family to identify candidate SNPs associated with NSCL/P risk. Subsequently, targeted bidirectional DNA re-sequencing of polymerase chain reaction (PCR)-amplified high-risk regions of MYO5B gene and sequenom iPLEX genotpying of 29 candidate SNPs were performed on a larger set of 33 members of this NSCL/P family (10 affected + 4 obligate carriers + 19 unaffected relatives) to find SNPs significantly associated with NSCL/P trait. SNP vs. NSCL/P association analysis showed the MYO5B SNP rs183559995 GA genotype had an odds ratio of 18.09 (95% Confidence Interval = 1.86-176.34; gender-adjusted P = 0.0019) compared to the reference GG genotype. Additionally, the following SNPs were also found significantly associated with NSCL/P risk: rs1450425 (LOXHD1), rs6507992 (SKA1), rs78950893 (SMAD7), rs8097060, rs17713847 (SCARNA17), rs6507872 (CTIF), rs8091995 (CTIF), and rs17715416 (MYO5B). We could thus identify mutations in several genes as key candidate SNPs associated with the risk of NSCL/P in this large multi-generation family. PMID:27242896

  10. A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.

    PubMed

    Leslie, Elizabeth J; Liu, Huan; Carlson, Jenna C; Shaffer, John R; Feingold, Eleanor; Wehby, George; Laurie, Cecelia A; Jain, Deepti; Laurie, Cathy C; Doheny, Kimberly F; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R; Neiswanger, Katherine; Standley, Jennifer; Czeizel, Andrew E; Deleyiannis, Frederic; Christensen, Kaare; Munger, Ronald G; Lie, Rolv T; Wilcox, Allen; Romitti, Paul A; Field, L Leigh; Padilla, Carmencita D; Cutiongco-de la Paz, Eva Maria C; Lidral, Andrew C; Valencia-Ramirez, Luz Consuelo; Lopez-Palacio, Ana Maria; Valencia, Dora Rivera; Arcos-Burgos, Mauricio; Castilla, Eduardo E; Mereb, Juan C; Poletta, Fernando A; Orioli, Iêda M; Carvalho, Flavia M; Hecht, Jacqueline T; Blanton, Susan H; Buxó, Carmen J; Butali, Azeez; Mossey, Peter A; Adeyemo, Wasiu L; James, Olutayo; Braimah, Ramat O; Aregbesola, Babatunde S; Eshete, Mekonen A; Deribew, Milliard; Koruyucu, Mine; Seymen, Figen; Ma, Lian; de Salamanca, Javier Enríquez; Weinberg, Seth M; Moreno, Lina; Cornell, Robert A; Murray, Jeffrey C; Marazita, Mary L

    2016-04-01

    Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP have been characterized. To identify such risk factors, we performed a genome-wide association study of this disorder. We discovered a genome-wide significant association with a missense variant in GRHL3 (p.Thr454Met [c.1361C>T]; rs41268753; p = 4.08 × 10(-9)) and replicated the result in an independent sample of case and control subjects. In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1-16.8; OR = 2.16, 95% CI 1.43-3.27, respectively). In luciferase transactivation assays, p.Thr454Met had about one-third of the activity of wild-type GRHL3, and in zebrafish embryos, perturbed periderm development. We conclude that this mutation is an etiologic variant for nonsyndromic CP and is one of few functional variants identified to date for nonsyndromic orofacial clefting. This finding advances our understanding of the genetic basis of craniofacial development and might ultimately lead to improvements in recurrence risk prediction, treatment, and prognosis. PMID:27018472

  11. Does Hamulotomy during Palatoplasty Have Any Effect on Hearing Ability in Nonsyndromic Cleft Palate Patients? A Prospective, Single Blind, Comparative Study

    PubMed Central

    Jain, Anuj; Nimonkar, Pranali; Bhola, Nitin; Borle, Rajiv; Sharma, Shishir; Oswal, Shrenik

    2016-01-01

    The primary goal of palatoplasty is to achieve a tension-free palatal closure ensuring no postoperative complications. Many surgeons fracture the pterygoid hamulus to minimize tension during palatoplasty. However, this maneuver gained criticism by some authors on the grounds that it may lead to Eustachian Tube dysfunction. Our study intended to figure out the relationship of hamulus fracture with the postoperative state of middle ear in cleft palate children. Fifty consecutive cleft palate patients with an age range of 10 months to 5 years were recruited. All the patients were assigned to either hamulotomy or nonhamulotomy group preoperatively. The patients were subjected to otoscopic examination and auditory function evaluation by brainstem evoked response audiometry (BERA) preoperatively and 1 month and 6 months postoperatively. Otoscopy revealed that the difference in the improvement of middle ear status in both groups was statistically insignificant. Moreover, there was no significant difference in the BERA outcomes of the fracture and nonfracture populations. Complication rate in both groups was also statistically not significant. It can be concluded that hamulotomy does not have any effect on the hearing ability in cleft palate population, so hamulotomy can be performed for tension-free closure during palatoplasty. PMID:27006862

  12. 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

  13. 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

  14. Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population.

    PubMed

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

    2016-09-01

    The aetiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) is complex involving multiple interacting genes and environmental factors. The primary objective of the present study was to investigate the role of TFAP2A gene single nucleotide polymorphisms (SNPs) in the pathogenesis of NSCL/P. In this study, 173 unrelated NSCL/P patients and 176 controls without clefts were genotyped with TFAP2A rs1675414 (Exon 1), rs3798691 (Intron 1), and rs303050 (Intron 4) variants by allele-specific amplification using the KASPar SNP genotyping system. The method of multifactor dimensionality reduction (MDR) was used to analyze gene-gene interactions. TFAP2A polymorphisms are not found to be associated with non-syndromic cleft lip with or without cleft palate (NSCL/P) at either the genotype or allele levels. No linkage disequilibrium (LD) was found between TFAP2A variants. MDR analysis did not show a significant effect of the TFAP2A gene polymorphisms on susceptibility to NSCL/P (p > 0.05). These results suggest that the analyzed variations in TFAP2A gene might not be associated with NSCL/P pathogenesis in south Indian population. PMID:27617216

  15. 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

  16. Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans.

    PubMed

    Murray, Tanda; Taub, Margaret A; Ruczinski, Ingo; Scott, Alan F; Hetmanski, Jacqueline B; Schwender, Holger; Patel, Poorav; Zhang, Tian Xiao; Munger, Ronald G; Wilcox, Allen J; Ye, Xiaoqian; Wang, Hong; Wu, Tao; Wu-Chou, Yah Huei; Shi, Bing; Jee, Sun Ha; Chong, Samuel; Yeow, Vincent; Murray, Jeffrey C; Marazita, Mary L; Beaty, Terri H

    2012-05-01

    In a recent genome-wide association study (GWAS) from an international consortium, evidence of linkage and association in chr8q24 was much stronger among nonsyndromic cleft lip/palate (CL/P) case-parent trios of European ancestry than among trios of Asian ancestry. We examined marker information content and haplotype diversity across 13 recruitment sites (from Europe, United States, and Asia) separately, and conducted principal components analysis (PCA) on parents. As expected, PCA revealed large genetic distances between Europeans and Asians, and a north-south cline from Korea to Singapore in Asia, with Filipino parents forming a somewhat distinct Southeast Asian cluster. Hierarchical clustering of SNP heterozygosity revealed two major clades consistent with PCA results. All genotyped SNPs giving P < 10(-6) in the allelic transmission disequilibrium test (TDT) showed higher heterozygosity in Europeans than Asians. On average, European ancestry parents had higher haplotype diversity than Asians. Imputing additional variants across chr8q24 increased the strength of statistical evidence among Europeans and also revealed a significant signal among Asians (although it did not reach genome-wide significance). Tests for SNP-population interaction were negative, indicating the lack of strong signal for 8q24 in families of Asian ancestry was not due to any distinct genetic effect, but could simply reflect low power due to lower allele frequencies in Asians. PMID:22508319

  17. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) - Part 4: Oral Rehabilitation

    PubMed Central

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

    2013-01-01

    Treatment of patients with cleft lip and palate is completed with fixed prostheses, removable, total, implants and aims to restore aesthetics, phonetics and function and should be guided by the basic principles of oral rehabilitation, such as physiology, stability, aesthetics, hygiene and the expectations of the patient. In order to obtain longevity of a prosthetic rehabilitation, the periodontal and dental tissue as well as the biomechanics of the prosthesis are to be respected. The purpose of this article is to describe the types of prosthetics treatment, which are performed at HRAC/USP for the rehabilitation of cleft area in adult patients. PMID:23857655

  18. Relational development in children with cleft lip and palate: influence of the waiting period prior to the first surgical intervention and parental psychological perceptions of the abnormality

    PubMed Central

    2012-01-01

    Background The birth of a child with a cleft lip, whether or not in association with a cleft palate, is a traumatic event for parents. This prospective, multidisciplinary and multi-centre study aims to explore the perceptions and feelings of parents in the year following the birth of their child, and to analyse parent–child relationships. Four inclusion centres have been selected, differing as to the date of the first surgical intervention, between birth and six months. The aim is to compare results, also distinguishing the subgroups of parents who were given the diagnosis in utero and those who were not. Methods/Design The main hypothesis is that the longer the time-lapse before the first surgical intervention, the more likely are the psychological perceptions of the parents to affect the harmonious development of their child. Parents and children are seen twice, when the child is 4 months (T0) and when the child is one year old (T1). At these two times, the psychological state of the child and his/her relational abilities are assessed by a specially trained professional, and self-administered questionnaires measuring factors liable to affect child–parent relationships are issued to the parents. The Alarme Détresse BéBé score for the child and the Parenting Stress Index score for the parents, measured when the child reaches one year, will be used as the main criteria to compare children with early surgery to children with late surgery, and those where the diagnosis was obtained prior to birth with those receiving it at birth. Discussion The mental and psychological dimensions relating to the abnormality and its correction will be analysed for the parents (the importance of prenatal diagnosis, relational development with the child, self-image, quality of life) and also, for the first time, for the child (distress, withdrawal). In an ethical perspective, the different time lapses until surgery in the different protocols and their effects will be analysed, so

  19. 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

  20. An observational study of the feasibility of Airtraq guided intubations with Ring Adair Elvin tubes in pediatric population with cleft lip and palate

    PubMed Central

    Sharma, Ashima; Durga, Padmaja; Gurajala, Indira; Ramchandran, Gopinath

    2015-01-01

    Context: The airway management requires refined skills and technical help when associated with cleft lip and palate. Airtraq has improved our airway management skills and has been successfully used for rescue intubation in difficult pediatric airways. Aims: This study was to evaluate the efficacy of Airtraq as the primary intubation device in patients with cleft lip and palate. The study adheres to the STrengthening the Reporting of OBservational Studies Epidemiology Statement. Subjects and Methods: A total of 85 children posted consecutively for lip and palate repair were enrolled. Children were intubated with Ring Adair Elvin (RAE) tube using size 1 and 2 of Airtraq device. The design of Airtraq has an anatomical limitation to hold RAE tubes. The preformed bend of the tube was straightened with a malleable stylet. The intubations were assessed for device manipulations and time taken for glottis visualization and intubation, airway complications such as bleeding, laryngospasm and failed intubations. Statistical Analysis Used: The outcome data were reported as numbers and percentages or range with identified median value, where applicable. Results: The success rate of Airtraq guided intubations was 98.21%. The cumulative insertion times and intubation times were 31.50 ± 12.57 s and 48.04 ± 35.73 s respectively. Airtraq manipulations were applied in 25.45% subjects. Conclusions: The presence of cleft lip or palate did not hamper the insertion of Airtraq. The use of malleable stylet to facilitate the loading of the preformed tube into the guide channel is a simple and efficacious improvisation. Airtraq can be utilized as a primary intubation device in children with orofacial clefts. PMID:26712974

  1. 22q11 chromosome abnormalities and the cleft service.

    PubMed

    Nugent, N; McGillivary, A; Earley, M J

    2010-04-01

    Deletion of chromosome 22q11 gives rise to a spectrum of anomalies, including cleft palate. These are grouped together as the DiGeorge or velocardiofacial syndrome. Patients with this chromosomal abnormality account for a small, but noteworthy proportion of patients attending our cleft service. They frequently have other significant comorbidities consistent with their diagnosis. Over a ten-year period, 16 patients within our cleft service have been diagnosed, using chromosome analysis, as having deletions at 22q11. All had either a cleft palate and/or velopharyngeal incompetence, for which they underwent repair of the cleft palate or pharyngoplasty. Several have required secondary palate surgery following initial palate surgery. Poor quality of speech was the indication for secondary procedures in the majority of cases. Fourteen of the 16 have other comorbidities, ranging from congenital heart disease to ocular abnormalities. In addition, 15 of the 16 have developmental delays and/or learning difficulties. Other specialties, such as ENT, cardiology, genetics and ophthalmology have been involved in the care of all these patients. Although comprising only a small proportion of patients attending a cleft team, the diagnosis of this chromosomal abnormality is significant, as these patients may require substantial input of resources and the expertise of several specialties. Early recognition of features of this entity and diagnosis can aid more efficient intervention. PMID:19249264

  2. Association between Maternal MTHFR Polymorphisms and Nonsyndromic Cleft Lip with or without Cleft Palate in Offspring, A Meta-Analysis Based on 15 Case-Control Studies

    PubMed Central

    Pan, Xinjuan; Wang, Ping; Yin, Xinjuan; Liu, Xiaozhuan; Li, Di; Li, Xing; Wang, Yongchao; Li, Hongle; Yu, Zengli

    2015-01-01

    Background The methylenetetrahydrofolate reductase (MTHFR) is thought to be involved in the development of nonsyndromic cleft lip with or without cleft palate (NSCL/P). However, conflicting results have been obtained when evaluating the association between maternal MTHFR C677T and A1298C polymorphisms and the risk of NSCL/P. In light of this gap, a meta-analysis of all eligible case-control studies was conducted in the present study. Materials and Methods A total of 15 case-control studies were ultimately identified after a comprehensive literature search and Hardy-Weinberg equilibrium (HWE) examination. Cochrane’s Q test and index of heterogeneity (I2) indicated no obvious heterogeneity among studies. Results Fixed or random-effects models were used to calculate the pooled odds ratios (ORs). The results showed that the TT genotype in mothers increased the likelihood of having NSCL/P offspring 1.25 times (95% CI: 1.047-1.494) more than the CC homozygotes. Meanwhile, maternal TT genotype increased the risk of producing NSCL/P offspring in recessive model (OR=1.325, 95% CI: 1.124-1.562). However, the CT heterozygote and the CT+TT dominant models had no association with NSCL/P offspring compared with the CC wild-type homozygote model. Subgroup analyses based on ethnicity indicated that maternal TT genotype increased the likelihood of having NSCL/P offspring in Whites (OR=1.308, 95% CI: 1.059-1.617) and Asians (OR=1.726, 95% CI: 1.090-2.733) in recessive model. Also, subgroup analyses based on source of control showed that mothers with the 677TT genotype had a significantly increased susceptibility of having NSCL/P children in hospital based population (HB) when compared with CC homozygotes (OR=1.248, 95% CI: 1.024-1.520) and un- der the recessive model (OR=1.324, 95% CI: 1.104-1.588). Furthermore, maternal A1298C polymorphism had no significant association with producing NSCL/P offspring (dominant model OR=0.952, 95% CI: 0.816-1.111, recessive model OR=0.766, 95% CI

  3. Evidence for an association between non-syndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4

    SciTech Connect

    Healey, S.C.; Chenevix-Trench, G.; Mitchell, L.E.

    1994-09-01

    Evidence of linkage has been reported for non-syndromic cleft lip with or without cleft palate (CL{+-}P) and two markers (D4S175 and D4S192) in the region 4q25-4q31.3. The linkage evidence comes from a single Caucasian pedigree with multiple cases of CL{+-}P in five generations. High-density pedigrees are, however, atypical of CL{+-}P and linkage evidence obtained from such a family may not be relevant to the majority of CL{+-}P families. We have, therefore, examined the association of CL{+-}P with both D4S175 and D4S192 in 95 unrelated CL{+-}P patients and 161 unselected controls. There was no evidence for an association between D4S175 and CL{+-}P in these data. There was, however, a significant association between D4S192 and CL{+-}P ({chi}{sup 2}{sub 4}=15.5,P=0.006), and the genotypic distribution was significantly heterogeneous between CL{+-}P patients and controls (P=0.025). Comparison of each of the four most common alleles (i.e A87, A89, A91 and A95), to all other alleles combined, indicated that A87 was significantly less common (OR=0.56,95% C.I. 0.34-0.90), and A95 was significantly more common (OR=1.88,95% C.I. 1.03-3.43) among the CL{+-}P patients than the controls. Although of only borderline significance, A89 also appeared to be more common among patients than controls (OR=1.43,95% C.I. 0.99-2.60). Hence, it appears that genetic variation at a CL{+-}P susceptibility locus (CSL) linked to D4S192 may be associated with both increased and decreased risk of CL{+-}P. In combination, A89 and A95 are significantly more common in CL{+-}P patients than in controls (OR=1.80;95% C.I. 1.24-2.60) and account for a risk ratio of 1.08 in the first degree relatives of CL{+-}P patients. These results provide further evidence for the presence of a CSL in the region 4q25-4q31.1, and indicate that the putative CSL is located closer to D4S192 than to D4S175.

  4. Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family.

    PubMed

    Cvjetkovic, Nevena; Maili, Lorena; Weymouth, Katelyn S; Hashmi, S Shahrukh; Mulliken, John B; Topczewski, Jacek; Letra, Ariadne; Yuan, Qiuping; Blanton, Susan H; Swindell, Eric C; Hecht, Jacqueline T

    2015-09-01

    Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect affecting 135,000 newborns worldwide each year. While a multifactorial etiology has been suggested as the cause, despite decades of research, the genetic underpinnings of NSCLP remain largely unexplained. In our previous genome-wide linkage study of a large NSCLP African-American family, we identified a candidate locus at 8q21.3-24.12 (LOD = 2.98). This region contained four genes, Frizzled-6 (FZD6), Matrilin-2 (MATN2), Odd-skipped related 2 (OSR2) and Solute Carrier Family 25, Member 32 (SLC25A32). FZD6 was located under the maximum linkage peak. In this study, we sequenced the coding and noncoding regions of these genes in two affected family members, and identified a rare variant in intron 1 of FZD6 (rs138557689; c.-153 + 432A>C). The variant C allele segregated with NSCLP in this family, through affected and unaffected individuals, and was found in one other NSCLP African-American family. Functional assays showed that this allele creates an allele-specific protein-binding site and decreases promoter activity. We also observed that loss and gain of fzd6 in zebrafish contributes to craniofacial anomalies. FZD6 regulates the WNT signaling pathway, which is involved in craniofacial development, including midfacial formation and upper labial fusion. We hypothesize, therefore, that alteration in FZD6 expression contributes to NSCLP in this family by perturbing the WNT signaling pathway. PMID:26436110

  5. Oral health related quality of life in cleft lip and palate patients rehabilitated with conventional prostheses or dental implants

    PubMed Central

    Papi, Piero; Giardino, Rita; Sassano, Pierpaolo; Amodeo, Giulia; Pompa, Giorgio; Cascone, Piero

    2015-01-01

    Objectives: Cleft lip and/or palate (CLP) is the most common congenital craniofacial abnormality, with a prevalence of 9.92 per 10,000 live births. In treating patients with CLP, oral rehabilitation is definitely a very important phase of the treatment in order to improve the patient's oral health related quality of life (OH-QoL). The aim of this retrospective study is to assess the OH-QoL in patients rehabilitated with different prosthetic options, thus comparing the conventional treatments, which include removable partial dentures and fixed partial dentures, with the implant-supported prostheses. Materials and Methods: Sixty-three patients were enrolled in this retrospective survey [44 females (69.84%) and 19 males (30.16%)] with a mean age of 34.93 ± 7.04 years (age range 21–53 years). They were all treated for CLP and rehabilitated with a conventional prosthesis or an implant-supported denture. Two different questionnaires were used in the present study to evaluate patients’ OH-QoL: The Italian version of the 49-item Oral Health Impact Profile (OHIP-49) and the Italian version of the Cleft Evaluation Profile (CEP). Statistical analysis was performed using analysis of variance (ANOVA) test, with a significant P < 0,05. Results: Data analysis revealed that patients rehabilitated with implant-supported dentures and fixed partial dentures showed a good level of satisfaction with their prostheses, scoring low values in the OHIP-49 and high values in the CEP, while subjects with removable partial dentures scored the highest values in the OHIP-49 and the lowest values in the CEP, which means an unsatisfactory feeling (P < 0.05). Conclusions: OH-QoL is a challenging demand for all prosthodontists. Our results show, clearly, that patients rehabilitated with implant-supported dentures are more satisfied compared to subjects with fixed partial dentures and removable partial dentures. PMID:26759802

  6. Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family

    PubMed Central

    Cvjetkovic, Nevena; Maili, Lorena; Weymouth, Katelyn S; Hashmi, S Shahrukh; Mulliken, John B; Topczewski, Jacek; Letra, Ariadne; Yuan, Qiuping; Blanton, Susan H; Swindell, Eric C; Hecht, Jacqueline T

    2015-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect affecting 135,000 newborns worldwide each year. While a multifactorial etiology has been suggested as the cause, despite decades of research, the genetic underpinnings of NSCLP remain largely unexplained. In our previous genome-wide linkage study of a large NSCLP African-American family, we identified a candidate locus at 8q21.3-24.12 (LOD = 2.98). This region contained four genes, Frizzled-6 (FZD6), Matrilin-2 (MATN2), Odd-skipped related 2 (OSR2) and Solute Carrier Family 25, Member 32 (SLC25A32). FZD6 was located under the maximum linkage peak. In this study, we sequenced the coding and noncoding regions of these genes in two affected family members, and identified a rare variant in intron 1 of FZD6 (rs138557689; c.-153 + 432A>C). The variant C allele segregated with NSCLP in this family, through affected and unaffected individuals, and was found in one other NSCLP African-American family. Functional assays showed that this allele creates an allele-specific protein-binding site and decreases promoter activity. We also observed that loss and gain of fzd6 in zebrafish contributes to craniofacial anomalies. FZD6 regulates the WNT signaling pathway, which is involved in craniofacial development, including midfacial formation and upper labial fusion. We hypothesize, therefore, that alteration in FZD6 expression contributes to NSCLP in this family by perturbing the WNT signaling pathway. PMID:26436110

  7. 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

  8. 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

  9. Secondary alveolar bone grafting in cleft of the lip and palate patients

    PubMed Central

    Walia, Abhilashaa

    2011-01-01

    Aim: The aim was to restore the function and form of both arches with a proper occlusal relationship and eruption of tooth in the cleft area. Materials and Methods: Eleven patients were selected irrespective of sex and socio-economic status and whose age was within the mixed dentition period. Iliac crest is grafted in cleft area and subsequently evaluated for graft success using study models, and periapical and occlusal radiographs. Results: At the time of evaluation teeth were erupted in the area and good alveolar bone levels were present. Premaxilla becomes immobile with a good arch form and arch continuity. There are no major complications in terms of pain, infection, paraesthesia, hematoma formation at donor site without difficulty in walking. There is no complication in terms of pain, infection, exposure of graft, rejection of graft, and wound dehiscence at the recipient site. Discussion: It is evident that secondary alveolar grafting during the mixed dentition period is more beneficial for patients at the donor site as well as the recipient site. Conclusion: Long-term follow-up is required to achieve maximum advantage of secondary alveolar grafting; the age of the patient should be within the mixed dentition period, irrespective of sex, socio-economic status. It may be unilateral or bilateral. PMID:22090755

  10. 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

  11. The perspectives of children and young people living with cleft lip and palate: a review of qualitative literature.

    PubMed

    Sharif, Mohammad Owaise; Callery, Peter; Tierney, Stephanie

    2013-05-01

    Objective :  To explore the experiences of children and young people with cleft lip and/or palate (CL/P) in relation to being treated for and living with this condition. Design :  A systematic review of qualitative research. Electronic databases and hand-searching were employed to identify relevant studies. The review centered on studies examining the views or experiences of young patients first-hand. Any study using a qualitative/mixed method design was eligible for inclusion. Results :  From 184 potential references, 38 papers were read in full, from which only two studies of young people met all the review's inclusion criteria. Common reasons for exclusion were not being a qualitative study, not focusing on CL/P, or data coming from parents only. A further two papers provided a retrospective account of childhood with CL/P from interviews with adults. Their suitability for the review's aims was limited, but they were discussed. Conclusions :  This review demonstrates that there is a paucity of evidence about the experiences of young people living with CL/P. No studies of children and only two studies of young people met all inclusion criteria. Identified papers implied that more attention is needed within families and services to help young people manage everyday difficulties such as bullying and self-consciousness due to facial difference. PMID:23030697

  12. Ethnic heterogeneity of IRF6 AP-2α binding site promoter SNP association with nonsyndromic cleft lip and palate

    PubMed Central

    Blanton, Susan H.; Burt, Amber; Garcia, Elizabeth; Mulliken, John B.; Stal, Samuel; Hecht, Jacqueline T.

    2010-01-01

    Objective The goal of this study was to confirm the reported association between a noncoding SNP (rs642961) in IRF6 and nonsyndromic cleft lip and palate (NSCLP). Design, Setting and Participants Two SNPs in IRF6 (rs2235371 and rs64296) were genotyped in Hispanic and nonHispanic white multiplex (122) and simplex (308) NSCLP families. Linkage and family-based association analyses were performed on the individual SNPs as well as the 2-SNP haplotype. Results We find only modest evidence for an association with rs642961 and the 2-SNP haplotype. In contrast, we found strong evidence for association with rs2235371; this was most evident in the nonHispanic white simplex families. Conclusions While we confirm that variation in IRF6 is associated with NSCLP, our results do not support the reported association with SNP rs64296. Importantly, the association varies between ethnic groups. This finding underscores the need for evaluating additional variations in IRF6 across multiple populations to better determine its role in NSCLP. PMID:21039277

  13. Patients and professionals have different views on online patient information about cleft lip and palate (CL/P).

    PubMed

    van den Bosch, S; Koudstaal, M; Versnel, S; Maal, T; Xi, T; Nelen, W; Bergé, S; Faber, M

    2016-06-01

    Parents of children with a cleft lip and/or palate (CL/P) and patients with CL/P actively search for online information about CL/P. The quality of this information has not been sufficiently evaluated. The aim of this study was to define quality criteria for online information about CL/P and assess the quality of frequently accessed websites. Patients, parents, and professionals were equally involved in all stages of this study. A literature review was performed to obtain known quality criteria for online information. These criteria were prioritized by patients, parents, and professionals. The most important criteria were used to rate the quality of four websites on CL/P. Forty-two quality items were extracted from the literature. Patients, parents, and professionals agreed on the importance of 16 of these items. New groups of patients, parents, and professionals assessed four websites on CL/P. Although the groups were like-minded in their overall assessment of the quality of the websites, distinct differences emerged between the groups in relation to certain items. This study shows the importance of patient participation in healthcare research, as well as a feasible approach to do so. Involving patients in composing online health information will set different priorities, which is necessary in establishing high quality information. PMID:26718136

  14. Persistent expression of Pax3 in the neural crest causes cleft palate and defective osteogenesis in mice

    PubMed Central

    Wu, Meilin; Li, Jun; Engleka, Kurt A.; Zhou, Bo; Lu, Min Min; Plotkin, Joshua B.; Epstein, Jonathan A.

    2008-01-01

    Transcription factors regulate tissue patterning and cell fate determination during development; however, expression of early regulators frequently abates upon differentiation, suggesting that they may also play a role in maintaining an undifferentiated phenotype. The transcription factor paired box 3 (Pax3) is expressed by multipotent neural crest precursors and is implicated in neural crest disorders in humans such as Waardenburg syndrome. Pax3 is required for development of multiple neural crest lineages and for activation of lineage-specific programs, yet expression is generally extinguished once neural crest cells migrate from the dorsal neural tube and differentiate. Using a murine Cre-inducible system, we asked whether persistent Pax3 expression in neural crest derivatives would affect development or patterning. We found that persistent expression of Pax3 in cranial neural crest cells resulted in cleft palate, ocular defects, malformation of the sphenoid bone, and perinatal lethality. Furthermore, we demonstrated that Pax3 directly regulates expression of Sostdc1, a soluble inhibitor of bone morphogenetic protein (BMP) signaling. Persistent Pax3 expression renders the cranial crest resistant to BMP-induced osteogenesis. Thus, one mechanism by which Pax3 maintains the undifferentiated state of neural crest mesenchyme may be to block responsiveness to differentiation signals from the environment. These studies provide in vivo evidence for the importance of Pax3 downregulation during differentiation of multipotent neural crest precursors and cranial development. PMID:18483623

  15. Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

    PubMed Central

    Lindgren, Amelia M.; Hoyos, Tatiana; Talkowski, Michael E.; Hanscom, Carrie; Blumenthal, Ian; Chiang, Colby; Ernst, Carl; Pereira, Shahrin; Ordulu, Zehra; Clericuzio, Carol; Drautz, Joanne M.; Rosenfeld, Jill A.; Shaffer, Lisa G.; Velsher, Lea; Pynn, Tania; Vermeesch, Joris; Harris, David J.; Gusella, James F.; Liao, Eric C.

    2013-01-01

    We describe a female subject (DGAP100) with a 46,X,t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures, facial dysmorphia and cleft palate. Fluorescence in situ hybridization and whole-genome sequencing demonstrated that the X chromosome breakpoint disrupts KDM6A in the second intron. No genes were directly disrupted on chromosome 5. KDM6A is a histone 3 lysine 27 demethylase and a histone 3 lysine 4 methyl-transferase. Expression of KDM6A is significantly reduced in DGAP100 lymphoblastoid cells compared to control samples. We identified nine additional cases with neurodevelopmental delay and various other features consistent with the DGAP100 phenotype with copy number variation encompassing KDM6A from microarray databases. We evaluated haploinsufficiency of kdm6a in a zebrafish model. kdm6a is expressed in the pharyngeal arches and ethmoid plate of the developing zebrafish, while a kdm6a morpholino knockdown exhibited craniofacial defects. We conclude KDM6A dosage regulation is associated with severe and diverse structural defects and developmental abnormalities. PMID:23354975

  16. 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

  17. Prosthodontic Management in Conjunction with Speech Therapy in Cleft Lip and Palate: A Review and Case Report

    PubMed Central

    Dhakshaini, M R; Pushpavathi, M; Garhnayak, Mirna; Dhal, Angurbala

    2015-01-01

    Cleft lip and palate (CLP), a congenital disturbance needs a lot of attention with respect to its rehabilitation as a person suffering from this defect can lead a normal life given with the right type of treatment at the right time. However, if a patient cannot get surgical treatment at the appropriate time either due to availability or economic constraints, it is still possible to improve their social and psychological well-being with prosthodontic rehabilitation. The literature search was carried out through PubMed and Google scholar and manual search. The articles related to prosthodontic treatment in congestion with speech therapy and some articles on psychological assessment were considered The available prosthodontic treatment options for improvement of speech is discussed and highlighted the importance of prosthetic management of such patients along with a speech therapist. Also, a review of the available prosthetic treatment options is discussed in detail. Finally, a case report of a CLP patient treated prosthodontically with the assistance of speech pathologist is presented. PMID:26668496

  18. Review of secondary alveolar cleft repair

    PubMed Central

    Cho-Lee, Gui-Youn; García-Díez, Eloy-Miguel; Nunes, Richard-Agostinho; Martí-Pagès, Carles; Sieira-Gil, Ramón; Rivera-Baró, Alejandro

    2013-01-01

    Introduction: The alveolar cleft is a bony defect that is present in 75% of the patients with cleft lip and palate. Although secondary alveolar cleft repair is commonly accepted for these patients, nowadays, controversy still remains regarding the surgical technique, the timing of the surgery, the donor site, and whether the use of allogenic materials improve the outcomes. The purpose of the present review was to evaluate the protocol, the surgical technique and the outcomes in a large population of patients with alveolar clefts that underwent secondary alveolar cleft repair. Materials and Methods: A total of 109 procedures in 90 patients with alveolar cleft were identified retrospectively after institutional review board approval was obtained. The patients were treated at a single institution during a period of 10 years (2001-2011). Data were collected regarding demographics, type of cleft, success parameters of the procedure (oronasal fistulae closure, unification of the maxillary segments, eruption and support of anterior teeth, support to the base of the nose, normal ridge form for prosthetic rehabilitation), donor site morbidity, and complications. Pre- and postoperative radiological examination was performed by means of orthopantomogram and computed tomography (CT) scan. Results: The average patient age was 14.2 years (range 4–21.3 years). There were 4 right alveolar-lip clefts, 9 left alveolar-lip clefts, 3 bilateral alveolar-lip clefts, 18 right palate-lip clefts, 40 left palate-lip clefts and 16 bilateral palate-lip clefts. All the success parameters were favorable in 87 patients. Iliac crest bone grafts were employed in all cases. There were three bone graft losses. In three cases, allogenic materials used in a first surgery performed in other centers, underwent infection and lacked consolidation. They were removed and substituted by autogenous iliac crest bone graft. Conclusions: The use of autogenous iliac crest for secondary alveolar bone grafting

  19. Skeletal stability and relapse patterns after Le Fort I maxillary osteotomy fixed with miniplates: the unilateral cleft lip and palate deformity.

    PubMed

    Posnick, J C; Dagys, A P

    1994-12-01

    The outcomes of a consecutive series of 35 adults and adolescents judged to be skeletally mature (mean 18 years) who had unilateral cleft lip and palate and had undergone Le Fort I advancement fixed with miniplates were investigated. All patients had received grafts of autogenous iliac bone and were stabilized intraoperatively with four miniplates. The amount and timing of horizontal and vertical relapse, correlation between advancement and relapse, effect of a pharyngoplasty in place at the time of osteotomy, effect of performing multiple jaw procedures, and maintenance of overjet and overbite were analyzed. Tracings of preoperative and serial postoperative lateral cephalograms (taken immediately and at 6 to 8 weeks and 1 year) were analyzed to calculate horizontal and vertical maxillary change and the amount of overjet and overbite maintained. Clinical follow-up ranged from 1.5 to 4.5 years (mean 1.5 years). No significant difference was seen in horizontal or vertical surgical change or relapse between patients who had maxillary surgery alone (n = 24) and those who had operations on both jaws (n = 11), nor did outcome vary significantly for those with a pharyngoplasty in place (n = 13) at the time of their Le Fort I osteotomy (p < 0.05). The mean effective horizontal advancement achieved for the group was 6.9 mm, with 5.3 mm maintained 1 year later (mean relapse of 1.6 mm). The mean effective vertical change of the maxilla was 2.1 mm initially and 1.7 mm 1 year later (mean relapse of 0.4 mm).(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7972480

  20. Understanding Cleft and Craniofacial Team Care

    MedlinePlus

    ... Donor Spotlight Fundraising Ideas Vehicle Donation Volunteer Efforts Cleft Lip/Palate & Craniofacial Specialists in Your Area skip to submenu Parents & Individuals Cleft Lip/Palate & Craniofacial Specialists in Your Area Team Disclaimer ...

  1. Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

    PubMed Central

    Roosenboom, J.; Saey, I.; Peeters, H.; Devriendt, K.; Claes, P.; Hens, G.

    2015-01-01

    Evidence exists for the presence of a specific facial phenotype in nonaffected first-degree relatives of persons with CL/P. An increased risk for olfactory dysfunction has also been reported in CL/P-relatives. These phenotypic features can probably be explained via the presence of CL/P-related susceptibility genes. We aimed at confirming the occurrence of these endophenotypic traits in first-degree CL/P-relatives, and we investigated the link between the facial phenotype and the smell capacity in this group. We studied the facial morphology of 88 nonaffected first-degree relatives of patients with CL/P and 33 control subjects without family history of facial clefting by 3D surface imaging and a spatially dense analysis of the images. Smell testing was performed in 30 relatives and compared with 23 control subjects. Nonaffected relatives showed midface retrusion, hypertelorism, and olfactory dysfunction, compared to controls. In addition, we show for the first time that olfactory dysfunction in relatives is correlated to a smaller upper nasal region. This might be explained by a smaller central olfactory system. The different facial morphology in the relatives with olfactory impairment as compared to the total group may be an illustration of the contribution of different genetic backgrounds to the occurrence of CL/P via different biological pathways. PMID:26064961

  2. Gene expression profiling analysis contributes to understanding the association between non-syndromic cleft lip and palate, and cancer

    PubMed Central

    WANG, HONGYI; QIU, TAO; SHI, JIE; LIANG, JIULONG; WANG, YANG; QUAN, LIANGLIANG; ZHANG, YU; ZHANG, QIAN; TAO, KAI

    2016-01-01

    The present study aimed to investigate the molecular mechanisms underlying non-syndromic cleft lip, with or without cleft palate (NSCL/P), and the association between this disease and cancer. The GSE42589 data set was downloaded from the Gene Expression Omnibus database, and contained seven dental pulp stem cell samples from children with NSCL/P in the exfoliation period, and six controls. Differentially expressed genes (DEGs) were screened using the RankProd method, and their potential functions were revealed by pathway enrichment analysis and construction of a pathway interaction network. Subsequently, cancer genes were obtained from six cancer databases, and the cancer-associated protein-protein interaction network for the DEGs was visualized using Cytoscape. In total, 452 upregulated and 1,288 downregulated DEGs were screened. The upregulated DEGs were significantly enriched in the arachidonic acid metabolism pathway, including PTGDS, CYP4F2 and PLA2G16; and transforming growth factor (TGF)-β signaling pathway, including SMAD3 and TGFB2. The downregulated DEGs were distinctly involved in the pathways of DNA replication, including MCM2 and POLA1; cell cycle, including CDK1 and STAG1; and viral carcinogenesis, including PIK3CA and HIST1H2BF. Furthermore, the pathways of cell cycle and viral carcinogenesis, with higher degrees of interaction were found to interact with other pathways, including DNA replication, transcriptional misregulation in cancer, and the TGF-β signaling pathway. Additionally, TP53, CDK1, SMAD3, PIK3R1 and CASP3, with higher degrees, interacted with the cancer genes. In conclusion, the DEGs for NSCL/P were implicated predominantly in the TGF-β signaling pathway, the cell cycle and in viral carcinogenesis. The TP53, CDK1, SMAD3, PIK3R1 and CASP3 genes were found to be associated, not only with NSCL/P, but also with cancer. These results may contribute to a better understanding of the molecular mechanisms of NSCL/P. PMID:26795696

  3. Gene expression profiling analysis contributes to understanding the association between non-syndromic cleft lip and palate, and cancer.

    PubMed

    Wang, Hongyi; Qiu, Tao; Shi, Jie; Liang, Jiulong; Wang, Yang; Quan, Liangliang; Zhang, Yu; Zhang, Qian; Tao, Kai

    2016-03-01

    The present study aimed to investigate the molecular mechanisms underlying non‑syndromic cleft lip, with or without cleft palate (NSCL/P), and the association between this disease and cancer. The GSE42589 data set was downloaded from the Gene Expression Omnibus database, and contained seven dental pulp stem cell samples from children with NSCL/P in the exfoliation period, and six controls. Differentially expressed genes (DEGs) were screened using the RankProd method, and their potential functions were revealed by pathway enrichment analysis and construction of a pathway interaction network. Subsequently, cancer genes were obtained from six cancer databases, and the cancer‑associated protein‑protein interaction network for the DEGs was visualized using Cytoscape. In total, 452 upregulated and 1,288 downregulated DEGs were screened. The upregulated DEGs were significantly enriched in the arachidonic acid metabolism pathway, including PTGDS, CYP4F2 and PLA2G16; and transforming growth factor (TGF)‑β signaling pathway, including SMAD3 and TGFB2. The downregulated DEGs were distinctly involved in the pathways of DNA replication, including MCM2 and POLA1; cell cycle, including CDK1 and STAG1; and viral carcinogenesis, including PIK3CA and HIST1H2BF. Furthermore, the pathways of cell cycle and viral carcinogenesis, with higher degrees of interaction were found to interact with other pathways, including DNA replication, transcriptional misregulation in cancer, and the TGF‑β signaling pathway. Additionally, TP53, CDK1, SMAD3, PIK3R1 and CASP3, with higher degrees, interacted with the cancer genes. In conclusion, the DEGs for NSCL/P were implicated predominantly in the TGF‑β signaling pathway, the cell cycle and in viral carcinogenesis. The TP53, CDK1, SMAD3, PIK3R1 and CASP3 genes were found to be associated, not only with NSCL/P, but also with cancer. These results may contribute to a better understanding of the molecular mechanisms of NSCL/P. PMID:26795696

  4. PVRL1 as a Candidate Gene for Nonsyndromic Cleft Lip With or Without Cleft Palate: No Evidence for the Involvement of Common or Rare Variants in Southern Han Chinese Patients

    PubMed Central

    Cheng, Hong-Qiu; Huang, En-Min; Xu, Ming-Yan; Shu, Shen-You

    2012-01-01

    The poliovirus receptor related-1 (PVRL1) gene encodes nectin-1, a cell–cell adhesion molecule (OMIM #600644), and is mutated in the cleft lip with or without cleft palate/ectodermal dysplasia-1 syndrome (CLPED1, OMIM #225000). In addition, PVRL1 mutations have been associated with nonsyndromic cleft lip with or without a cleft palate (NSCL/P) in studies of multiethnic samples. To investigate the possible involvement of this gene in southern Han Chinese NSCL/P patients, we performed (i) a case–control association study, and (ii) a resequencing study. A set of 470 patients with NSCL/P and 693 controls were recruited, and a total of 45 tagging single-nucleotide polymorphisms (SNPs) were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. In the resequencing study, the coding regions of the PVRL1 α isoform were direct sequenced in 45 trios from multiply affected families. One (rs7128327) of the 45 tested SNPs showed a trend toward statistical significance in the genotypic-level chi-square test (p=0.009567). However, this result did not withstand correction for multiple testing. Likewise, sliding window haplotype analyses consisting of two, three, or four SNPs failed to detect any positive association. Resequencing analysis also failed to identify any novel rare sequence variants. In conclusion, the present study provided no support for the hypothesis that common or rare variants in PVRL1 play a significant role in NSCL/P development in the southern Han Chinese population. This is the first study that has used tagging SNPs covering all the coding and noncoding regions to search for common NSCL/P-associated mutations of PVRL1. PMID:22455396

  5. Characteristics of Maxillary Morphology in Unilateral Cleft Lip and Palate Patients Compared to Normal Subjects and Skeletal Class III Patients.

    PubMed

    Jiang, Chanyuan; Yin, Ningbei; Zheng, Yilue; Song, Tao

    2015-09-01

    This study is to investigate the anatomical features of maxillae in unilateral cleft lip and palate (UCLP) patients with maxillary retrusion. Additionally, the dissimilarities of retruded maxillae between the UCLP patients and the skeletal class III patients were compared. Craniofacial measurements were carried out among 32 UCLP adult patients with maxillary retrusion (GC), 24 adult patients in class III (SNA < 80°, ANB < 0°) patients (GIII), and 32 normal controls (GN). The authors measured the width and length of the maxillae, as well as their relative positions to the coronal plane passing through basion. The independent sample group t test was performed, and P < 0.05 was regarded as statistically significant. In the GC group, the anterior and posterior maxillary length (A1-P3M⊥CP and P3M-P6M⊥CP) and overall maxillary length (A1-P6M⊥CP) at the dental level, the interdental widths of the maxillae, the maxillary volume (GM), and the volume consisting of maxilla and maxillary sinus (GT) significantly reduced compared with the GN group (P < 0.05). The distances from the points on the maxillae to the coronal plane (A1⊥CP, P3M⊥CP, and P6M⊥CP) in the GC and GIII groups were smaller than those in the GN group (P < 0.05). In summary, for the UCLP patients, the decreased prominence of maxillary complex could be mainly caused by the shortened maxillary length; meanwhile, posterior position of the maxillary body may have some influence on the maxillary protrusion. While for the class III patients, maxillary retrusion was resulted from malposition and malmorphology on an equal basis. PMID:26267583

  6. Investigating Oral Microbiome Profiles in Children with Cleft Lip and Palate for Prognosis of Alveolar Bone Grafting

    PubMed Central

    Liu, Luwei; Zhang, Qian; Lin, Jiuxiang; Ma, Lian; Zhou, Zhibo; He, Xuesong; Jia, Yilin; Chen, Feng

    2016-01-01

    In this study, we sought to investigate the oral microbiota structure of children with cleft lip and palate (CLP) and explore the pre-operative oral bacterial composition related to the prognosis of alveolar bone grafting. In total, 28 patients (19 boys, 9 girls) with CLP who were scheduled to undergo alveolar bone grafting for the first time were recruited. According to the clinical examination of operative sites at the third month after the operation, the individuals were divided into a non-inflammation group (n = 15) and an inflammation group (n = 13). In all, 56 unstimulated saliva samples were collected before and after the operation. The v3-v4 hypervariable regions of the 16S rRNA gene were sequenced using an Illumina MiSeq sequencing platform. Based on the beta diversity of the operational taxonomic units (OTUs) in the inflammation and non-inflammation samples, the microbial variation in the oral cavity differed significantly between the two groups before and after the operation (P < 0.05). Analysis of the relative abundances of pre-operative OTUs revealed 26 OTUs with a relative abundance higher than 0.01%, reflecting a significant difference of the relative abundance between groups (P < 0.05). According to a principal component analysis of the pre-operative samples, the inflammation-related OTUs included Tannerella sp., Porphyromonas sp., Gemella sp., Moraxella sp., Prevotella nigrescens, and Prevotella intermedia, most of which were enriched in the inflammation group and showed a significant positive correlation. A cross-validated random forest model based on the 26 different OTUs before the operation was able to fit the post-operative status of grafted sites and yielded a good classification result. The sensitivity and specificity of this classified model were 76.9% and 86.7%, respectively. These findings show that the oral microbiota profile before alveolar bone grafting may be related to the risk of post-operative inflammation at grafted sites. PMID

  7. Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate.

    PubMed

    Aylward, Alana; Cai, Yi; Lee, Andrew; Blue, Elizabeth; Rabinowitz, Daniel; Haddad, Joseph

    2016-07-01

    Studies suggest that nonsyndromic cleft lip and palate (NSCLP) is polygenic with variable penetrance, presenting a challenge in identifying all causal genetic variants. Despite relatively high prevalence of NSCLP among Amerindian populations, no large whole exome sequencing (WES) studies have been completed in this population. Our goal was to identify candidate genes with rare genetic variants for NSCLP in a Honduran population using WES. WES was performed on two to four members of 27 multiplex Honduran families. Genetic variants with a minor allele frequency > 1% in reference databases were removed. Heterozygous variants consistent with dominant disease with incomplete penetrance were ascertained, and variants with predicted functional consequence were prioritized for analysis. Pedigree-specific P-values were calculated as the probability of all affected members in the pedigree being carriers, given that at least one is a carrier. Preliminary results identified 3,727 heterozygous rare variants; 1,282 were predicted to be functionally consequential. Twenty-three genes had variants of interest in ≥3 families, where some genes had different variants in each family, giving a total of 50 variants. Variant validation via Sanger sequencing of the families and unrelated unaffected controls excluded variants that were sequencing errors or common variants not in databases, leaving four genes with candidate variants in ≥3 families. Of these, candidate variants in two genes consistently segregate with NSCLP as a dominant variant with incomplete penetrance: ACSS2 and PHYH. Rare variants found at the same gene in all affected individuals in several families are likely to be directly related to NSCLP. PMID:27229527

  8. Investigating Oral Microbiome Profiles in Children with Cleft Lip and Palate for Prognosis of Alveolar Bone Grafting.

    PubMed

    Liu, Luwei; Zhang, Qian; Lin, Jiuxiang; Ma, Lian; Zhou, Zhibo; He, Xuesong; Jia, Yilin; Chen, Feng

    2016-01-01

    In this study, we sought to investigate the oral microbiota structure of children with cleft lip and palate (CLP) and explore the pre-operative oral bacterial composition related to the prognosis of alveolar bone grafting. In total, 28 patients (19 boys, 9 girls) with CLP who were scheduled to undergo alveolar bone grafting for the first time were recruited. According to the clinical examination of operative sites at the third month after the operation, the individuals were divided into a non-inflammation group (n = 15) and an inflammation group (n = 13). In all, 56 unstimulated saliva samples were collected before and after the operation. The v3-v4 hypervariable regions of the 16S rRNA gene were sequenced using an Illumina MiSeq sequencing platform. Based on the beta diversity of the operational taxonomic units (OTUs) in the inflammation and non-inflammation samples, the microbial variation in the oral cavity differed significantly between the two groups before and after the operation (P < 0.05). Analysis of the relative abundances of pre-operative OTUs revealed 26 OTUs with a relative abundance higher than 0.01%, reflecting a significant difference of the relative abundance between groups (P < 0.05). According to a principal component analysis of the pre-operative samples, the inflammation-related OTUs included Tannerella sp., Porphyromonas sp., Gemella sp., Moraxella sp., Prevotella nigrescens, and Prevotella intermedia, most of which were enriched in the inflammation group and showed a significant positive correlation. A cross-validated random forest model based on the 26 different OTUs before the operation was able to fit the post-operative status of grafted sites and yielded a good classification result. The sensitivity and specificity of this classified model were 76.9% and 86.7%, respectively. These findings show that the oral microbiota profile before alveolar bone grafting may be related to the risk of post-operative inflammation at grafted sites. PMID

  9. Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35

    PubMed Central

    Marazita, Mary L.; Murray, Jeffrey C.; Lidral, Andrew C.; Arcos-Burgos, Mauricio; Cooper, Margaret E.; Goldstein, Toby; Maher, Brion S.; Daack-Hirsch, Sandra; Schultz, Rebecca; Mansilla, M. Adela; Field, L. Leigh; Liu, You-e; Prescott, Natalie; Malcolm, Sue; Winter, Robin; Ray, Ajit; Moreno, Lina; Valencia, Consuelo; Neiswanger, Katherine; Wyszynski, Diego F.; Bailey-Wilson, Joan E.; Albacha-Hejazi, Hasan; Beaty, Terri H.; McIntosh, Iain; Hetmanski, Jacqueline B.; Tunçbilek, Gökhan; Edwards, Matthew; Harkin, Louise; Scott, Rodney; Roddick, Laurence G.

    2004-01-01

    Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P from seven diverse populations (2,551 genotyped individuals) revealed CL/P genes in six chromosomal regions, including a novel region at 9q21 (heterogeneity LOD score [HLOD]=6.6). In addition, meta-analyses with the addition of results from 186 more families (six populations; 1,033 genotyped individuals) showed genomewide significance for 10 more regions, including another novel region at 2q32-35 (P=.0004). These are the first genomewide significant linkage results ever reported for CL/P, and they represent an unprecedented demonstration of the power of linkage analysis to detect multiple genes simultaneously for a complex disorder. PMID:15185170

  10. Assessment of Single-Word Production for Children under Three Years of Age: Comparison of Children with and without Cleft Palate

    PubMed Central

    Scherer, Nancy J.; Williams, Lynn; Stoel-Gammon, Carol; Kaiser, Ann

    2012-01-01

    Background. This study reports comparative phonological assessment results for children with cleft lip and/or palate (CLP) to typically developing peers using an evaluation tool for early phonological skills. Methods. Children without clefts (NC = noncleft) and 24 children with CLP, ages of 18–36 months, were evaluated using the Profile of Early Expressive Phonological Skills (PEEPSs) [1]. Children interacted with toy manipulatives to elicit a representative sample of target English consonants and syllable structures that are typically acquired by children between 18 and 27 months of age. Results. Results revealed significant differences between the two groups with regard to measures of consonant inventory, place of articulation, manner of production, accuracy, and error patterns. Syllable structure did not indicate differences, with the exception of initial consonant clusters. Conclusions. findings provide support for PEEPS as a viable option for single-word assessment of children with CLP prior to 3 years of age. PMID:22611404

  11. Sequence Evaluation of FGF and FGFR Gene Conserved Non-Coding Elements in Non-Syndromic Cleft Lip and Palate Cases

    PubMed Central

    Riley, Bridget M.; Murray, Jeffrey C.

    2009-01-01

    Non-syndromic cleft lip and palate (NS CLP) is a complex birth defect resulting from multiple genetic and environmental factors. We have previously reported the sequencing of the coding region of genes in the fibroblast growth factor (FGF) signaling pathway, in which missense and non-sense mutations contribute to approximately 5%–6% NS CLP cases. In this article we report the sequencing of conserved non-coding elements (CNEs) in and around 11 of the FGF and FGFR genes, which identified 55 novel variants. Seven of variants are highly conserved among ≥8 species and 31 variants alter transcription factor binding sites, 8 of which are important for craniofacial development. Additionally, 15 NS CLP patients had a combination of coding mutations and CNE variants, suggesting that an accumulation of variants in the FGF signaling pathway may contribute to clefting. PMID:17963255

  12. A model-based cost-effectiveness analysis of a grommets-led care pathway for children with cleft palate affected by otitis media with effusion.

    PubMed

    Mohiuddin, Syed; Payne, Katherine; Fenwick, Elisabeth; O'Brien, Kevin; Bruce, Iain

    2015-07-01

    There is a paucity of evidence to guide the management of otitis media with effusion (OME), which is a common problem causing significant hearing impairment in children with cleft palate. The insertion of grommets is currently being used to correct hearing impairment and prevent complications of unmanaged OME, but there is ongoing discussion about whether the benefits of grommets outweigh the costs and risks. A decision-tree model was developed to assess the surgical insertion of grommets with two non-surgical alternatives (hearing-aids and do-nothing strategies) in cleft palate children with persistent bilateral OME. The model assumed a 2-year time horizon and a UK National Health Service perspective. Outcomes were valued using quality-adjusted life-years (QALYs) estimated by linking utility values with potential hearing gains measured in decibels. Multiple data sources were used, including reviews of the clinical effectiveness, resource use and utility literature, and supplemented with expert opinion. Uncertainty in the model parameters was assessed using probabilistic sensitivity analysis. Expected value of perfect information analysis was used to calculate the potential value of future research. The results from the probabilistic sensitivity analysis indicated that the grommets strategy was associated with an incremental cost-effectiveness ratio of £9,065 per QALY gained compared with the do-nothing strategy, and the hearing-aids strategy was extended dominated by the grommets strategy. The population expected value of perfect information was £5,194,030 at a willingness to pay threshold of £20,000 per QALY, implying that future research could be potentially worthwhile. This study found some evidence that the insertion of grommets to manage cleft palate children with bilateral OME is likely to be cost-effective, but further research is required to inform this treatment choice. PMID:24906214

  13. Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.

    PubMed

    Wolf, Zena T; Brand, Harrison A; Shaffer, John R; Leslie, Elizabeth J; Arzi, Boaz; Willet, Cali E; Cox, Timothy C; McHenry, Toby; Narayan, Nicole; Feingold, Eleanor; Wang, Xioajing; Sliskovic, Saundra; Karmi, Nili; Safra, Noa; Sanchez, Carla; Deleyiannis, Frederic W B; Murray, Jeffrey C; Wade, Claire M; Marazita, Mary L; Bannasch, Danika L

    2015-03-01

    Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10(-13); adjusted p= 2.2 x 10(-3)). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 - 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases and 4 controls at 15X coverage led to the discovery of a frameshift mutation within ADAMTS20 (c.1360_1361delAA (p.Lys453Ilefs*3)), which segregated concordant with the phenotype. In a parallel study in humans, a family-based association analysis (DFAM) of 125 CL/P cases, 420 unaffected relatives, and 392 controls from a Guatemalan cohort, identified a suggestive association (rs10785430; p =2.67 x 10-6) with the same gene, ADAMTS20. Sequencing of cases from the Guatemalan cohort was unable to identify a causative mutation within the coding region of ADAMTS20, but four coding variants were found in additional cases of CL/P. In summary, this study provides genetic evidence for a role of ADAMTS20 in CL/P development in dogs and as a candidate gene for CL/P development in humans. PMID:25798845

  14. Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate

    PubMed Central

    Leslie, Elizabeth J.; Arzi, Boaz; Willet, Cali E.; Cox, Timothy C.; McHenry, Toby; Narayan, Nicole; Feingold, Eleanor; Wang, Xioajing; Sliskovic, Saundra; Karmi, Nili; Safra, Noa; Sanchez, Carla; Deleyiannis, Frederic W. B.; Murray, Jeffrey C.; Wade, Claire M.; Marazita, Mary L.; Bannasch, Danika L.

    2015-01-01

    Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10-13; adjusted p= 2.2 x 10-3). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 – 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases and 4 controls at 15X coverage led to the discovery of a frameshift mutation within ADAMTS20 (c.1360_1361delAA (p.Lys453Ilefs*3)), which segregated concordant with the phenotype. In a parallel study in humans, a family-based association analysis (DFAM) of 125 CL/P cases, 420 unaffected relatives, and 392 controls from a Guatemalan cohort, identified a suggestive association (rs10785430; p =2.67 x 10-6) with the same gene, ADAMTS20. Sequencing of cases from the Guatemalan cohort was unable to identify a causative mutation within the coding region of ADAMTS20, but four coding variants were found in additional cases of CL/P. In summary, this study provides genetic evidence for a role of ADAMTS20 in CL/P development in dogs and as a candidate gene for CL/P development in humans. PMID:25798845

  15. Impact of rapid maxillary expansion in unilateral cleft lip and palate patients after secondary alveolar bone grafting: review and case report.

    PubMed

    Yang, Chen-Jie; Pan, Xiao-Gang; Qian, Yu-Fen; Wang, Guo-Ming

    2012-07-01

    The purpose of this article was to analyze the effects and short-term stability of rapid maxillary expansion performed after secondary alveolar bone grafting in unilateral cleft lip and palate (UCLP) patients. Two UCLP patients with severe maxillary constriction who had previous bone grafting were involved in this study. A hyrax rapid expansion appliance was placed on 4 abutment teeth and activated twice daily. An opening of the midpalatal suture was found on the posttreatment occlusal radiographs, which was clinically confirmed by the diastema. Posteroanterior cephalometric tracing analysis demonstrated significant increases in maxillary and dental arch width. No obvious radiographic alteration was observed in the grafted areas. PMID:22732853

  16. Siamese twins with craniofacial duplication and bilateral cleft lip/palate in a ceramic representation of the Chimú culture (Peru): a comparative analysis with a current case.

    PubMed

    Pachajoa, Harry; Hernandez-Amaris, Maria F; Porras-Hurtado, Gloria Liliana; Rodriguez, Carlos A

    2014-06-01

    Craniofacial duplication or diprosopus is a very rare malformation that is present in approximately 0.4% of conjoined twins. Here is presented a case of craniofacial duplication in association with bilateral cleft lip/palate in both heads found in a ceramic representation from the early Chimú culture from Peru. A comparative analysis is made with a current case of a 28-week-old fetus with similar characteristics. After reviewing the medical literature on conjoined twins, very few reports of facial cleft in both twins were found, with no reports at all of bilateral cleft lip/palate. This ceramic crock is considered one of the first representations suggestive of craniofacial duplication, and probably the first reporting it in association with facial cleft. PMID:24774755

  17. Palatal and Oromandibular Tremor Secondary to Degenerative Olivary Hypertrophy After Ependymoma Surgery.

    PubMed

    Lozano-Ros, Alberto; Miranda-Acuña, Jahir A; Hidalgo-de la Cruz, Milagros; Fernández-García, Pilar; Massot-Tarrús, Andreu; García-Domínguez, José M

    2016-09-01

    Palatal tremor (PT) is a rare movement disorder that involves pharynx, tongue, and other facial muscles. Symptomatic PT is due to lesions on the dentate-rubro-olivary pathways. We present an illustrative case of PT due to degenerative olivary hypertrophy after ependymoma surgery. PMID:27564077

  18. Protocols for Late Maxillary Protraction in Cleft Lip and Palate Patients at Childrens Hospital Los Angeles

    PubMed Central

    Yen, Stephen L-K

    2011-01-01

    This paper describes the protocols used at Childrens Hospital Los Angeles (CHLA) to protract the maxilla during early adolescence. It is a modification of techniques introduced by Eric Liou with his Alternate Rapid Maxillary Expansion and Constriction (ALT-RAMEC) technique. The main differences between the CHLA protocol and previous maxillary protraction protocols are the age the protraction is attempted, the sutural loosening by alternating weekly expansion with constriction and the use of Class III elastics to support and redirect the protraction by nightly facemask wear. The CHLA protocol entirely depends on patient compliance and must be carefully taught and monitored. In a cooperative patient, the technique can correct a Class III malocclusion that previously would have been treated with LeFort 1 maxillary advancement surgery. Thus, it is not appropriate for patients requiring 2 jaw surgeries to correct mandibular prognathism, occlusal cants or facial asymmetry. The maxillary protraction appears to work by a combination of skeletal advancement, dental compensation and rotation of the occlusal planes. Microscrew/microimplant/temporary anchorage devices have been used with these maxillary protraction protocols to assist in expanding the maxilla, increasing skeletal anchorage during protraction, limiting dental compensations and reducing skeletal relapse. PMID:21765629

  19. Combined anomalies of the palate in Mohr syndrome: is preoperative electromyography of the palate useful?

    PubMed

    Velepic, Mitja S; Sasso, Antun; Velepic, Marko M; Lustica, Ivo; Starcevic, Radan; Komljenovic, Dejan

    2004-02-01

    The authors present a girl with typical characteristics of oral-facial-digital syndrome type II (Mohr syndrome) with a cleft soft palate and pendulous tongue nodules. Because of feeding difficulties, electromyography was performed of both morphologically identical halves of the soft palate. One half showed a normal muscle action potential and in the other half electrical silence was registered. Exploratory surgery during palatoplasty showed a fatty hamartoma in the half of the palate in which no electric potentials had been registered. PMID:14966745

  20. 3D comparison of average faces in subjects with oral clefts.

    PubMed

    Bugaighis, Iman; Tiddeman, Bernard; Mattick, Claire R; Hobson, Ross

    2014-08-01

    This prospective cross-sectional, case-controlled morphometric study assessed three dimensional (3D) facial morphological differences between average faces of 103 children aged 8-12 years; 40 with unilateral cleft lip and palate (UCLP), 23 with unilateral cleft lip and alveolus (UCLA), 19 with bilateral cleft lip and palate (BCLP), 21 with isolated cleft palate (ICP), and 80 gender and age-matched controls. 3D stereophotogrammetric facial scans were recorded for each participant at rest. Thirty-nine landmarks were digitized for each scan, and x-, y-, z-coordinates for each landmark were extracted. A 3D photorealistic average face was constructed for each participating group and subjective and objective comparisons were carried out between each cleft and control average faces. Marked differences were observed between all groups. The most severely affected were groups where the lip and palate were affected and repaired (UCLP and UCLA). The group with midsagittal palatal deformity and repair (ICP) was the most similar to the control group. The results revealed that 3D shape analysis allows morphometric discrimination between subjects with craniofacial anomalies and the control group, and underlines the potential value of statistical shape analysis in assessing the outcomes of cleft lip and palate surgery, and orthodontic treatment. PMID:23172581

  1. Influence of propolis on hygiene, gingival condition, and oral microflora in patients with cleft lip and palate treated with fixed orthodontic appliances.

    PubMed

    Machorowska-Pieniążek, Agnieszka; Morawiec, Tadeusz; Mertas, Anna; Tanasiewicz, Marta; Dziedzic, Arkadiusz; Król, Wojciech

    2013-01-01

    The aim of this study was to evaluate the influence of 3% ethanol extract of propolis (EEP) on hygiene, gingival and microbiological status of oral cavity in patients with cleft lip and palate treated with fixed orthodontic appliances. The study included forty-one nonsyndromic complete unilateral of bilateral cleft lip and palate subjects with fixed appliance on at least 10 teeth. Twenty-one subjects were instructed to brush their teeth three times a day using toothpaste with propolis. Control group included twenty subjects who were asked to brush their teeth three times a day using a toothpaste without propolis. API, OPI, GI, and supragingival bacterial plaque were taken from each subject twice: baseline and after using the toothpaste for 35 days. The final examinations showed statistically significant decrease in OPI, GI, and the percentage of the Actinomyces spp. and Capnocytophaga spp. compared with baseline in propolis group subjects. The improvement in oral health in these patients confirms antibacterial, anti-inflammatory, and regenerative properties of propolis. PMID:23762106

  2. Influence of Propolis on Hygiene, Gingival Condition, and Oral Microflora in Patients with Cleft Lip and Palate Treated with Fixed Orthodontic Appliances

    PubMed Central

    Machorowska-Pieniążek, Agnieszka; Morawiec, Tadeusz; Tanasiewicz, Marta; Król, Wojciech

    2013-01-01

    The aim of this study was to evaluate the influence of 3% ethanol extract of propolis (EEP) on hygiene, gingival and microbiological status of oral cavity in patients with cleft lip and palate treated with fixed orthodontic appliances. The study included forty-one nonsyndromic complete unilateral of bilateral cleft lip and palate subjects with fixed appliance on at least 10 teeth. Twenty-one subjects were instructed to brush their teeth three times a day using toothpaste with propolis. Control group included twenty subjects who were asked to brush their teeth three times a day using a toothpaste without propolis. API, OPI, GI, and supragingival bacterial plaque were taken from each subject twice: baseline and after using the toothpaste for 35 days. The final examinations showed statistically significant decrease in OPI, GI, and the percentage of the Actinomyces spp. and Capnocytophaga spp. compared with baseline in propolis group subjects. The improvement in oral health in these patients confirms antibacterial, anti-inflammatory, and regenerative properties of propolis. PMID:23762106

  3. [Monitoring of tooth displacement using eddy-current type sensor--concerning orthodontic treatment for patients with cleft lip and palate].

    PubMed

    Iwata, K

    1992-03-01

    We frequently experienced a relapse tendency after the upper dental arch expansion in a patient with cleft lip and palate. The purpose of this study was to detect the tooth displacement right after removing the orthodontic appliance. Time-lapse monitoring of the displacement was performed on the maxillary canine in the minor segment using a non-contact eddy-current type sensor. Clinical application was tested in 9 patients with clefts, and the following results were obtained: 1) The relationship between the displacement and the output voltage of the sensor showed a good linearity with a +/- 3% standard error. 2) In 3 subjects with oronasal fistula after orthodontic treatment and in a subject with discontinuity of the maxillary dental arch, displacements toward the palatal side were recorded. 3) In 2 subjects with arch continuity in the maxilla, no significant displacement was observed. 4) The viscoelastic property of the surrounding tissue of the tested tooth could have induced the displacement monitored by this method. PMID:1607821

  4. A cross-sectional survey of 5-year-old children with non-syndromic unilateral cleft lip and palate: the Cleft Care UK study. Part 1: background and methodology

    PubMed Central

    Persson, M; Sandy, J R; Waylen, A; Wills, A K; Al-Ghatam, R; Ireland, A J; Hall, A J; Hollingworth, W; Jones, T; Peters, T J; Preston, R; Sell, D; Smallridge, J; Worthington, H; Ness, A R

    2015-01-01

    Structured Abstract Objectives We describe the methodology for a major study investigating the impact of reconfigured cleft care in the United Kingdom (UK) 15 years after an initial survey, detailed in the Clinical Standards Advisory Group (CSAG) report in 1998, had informed government recommendations on centralization. Setting and Sample Population This is a UK multicentre cross-sectional study of 5-year-olds born with non-syndromic unilateral cleft lip and palate. Children born between 1 April 2005 and 31 March 2007 were seen in cleft centre audit clinics. Materials and Methods Consent was obtained for the collection of routine clinical measures (speech recordings, hearing, photographs, models, oral health, psychosocial factors) and anthropometric measures (height, weight, head circumference). The methodology for each clinical measure followed those of the earlier survey as closely as possible. Results We identified 359 eligible children and recruited 268 (74.7%) to the study. Eleven separate records for each child were collected at the audit clinics. In total, 2666 (90.4%) were collected from a potential 2948 records. The response rates for the self-reported questionnaires, completed at home, were 52.6% for the Health and Lifestyle Questionnaire and 52.2% for the Satisfaction with Service Questionnaire. Conclusions Response rates and measures were similar to those achieved in the previous survey. There are practical, administrative and methodological challenges in repeating cross-sectional surveys 15 years apart and producing comparable data. PMID:26567851

  5. Orthognathic Consequences of Sphincter Pharyngoplasty in Cleft Patients: A 2-Institutional Study

    PubMed Central

    Yoshikane, Frances; Lai, Li Han; Hui, Brian K.; Martins, Deborah B.; Farias-Eisner, Gina; Mandelbaum, Rachel S.; Hoang, Han; Bradley, James P.; Wilson, Libby

    2016-01-01

    Background: Understanding long-term sequelae of cleft treatment is paramount in the refinement of treatment algorithms to accomplish optimized immediate and long-term outcomes. In this study, we reviewed sphincter pharyngoplasties as a method of velopharyngeal insufficiency (VPI) treatment in relationship to orthognathic surgery. Methods: Cleft lip/palate and cleft palate patients, 15 years of age and older, were reviewed for demographics, VPI surgery, revisions, and subsequent orthognathic surgery at 2 institutions. Chi-square test, Student’s t test, and logistic regression analyses were performed. Results: In 214 patients reviewed (mean age, 19.5 years), 61.7% were male, 18.2% had isolated cleft palate, 61.2% had unilateral cleft lip and palate, and 20.6% had bilateral cleft lip and palate. A total of 33.6% were diagnosed with VPI and received a sphincter pharyngoplasty (mean age, 11.9 years). When subsequent orthognathic surgery was examined, sphincter pharyngoplasty was not associated with maxillary advancement (P = 0.59) but did correlate with an increase in mandibular surgery from 2.8% to 11.1% (P = 0.02). The indications for mandibular surgery in the pharyngoplasty population were related to congenital micrognathia. When cephalometric analyses were evaluated, sphincter pharyngoplasty resulted in a decreased sella-to-nasion-to-B point angle (mean, 79.0–76.3 degrees, P = 0.02) and a higher incidence of normal to class II maxillomandibular relationships as defined by A point-to-nasion-to-B point angles >0.5 (P = 0.02). Conclusions: Sphincter pharyngoplasty decreases anterior mandibular growth and the discrepancy between maxillomandibular skeletal relationships because of the frequent predisposition of cleft patients to maxillary hypoplasia. In patients with congenital mandibular micrognathia, a small increase in mandibular surgeries may occur. PMID:27200238

  6. Oral Health in 4-6 Years Children with Cleft Lip/Palate: A Case Control Study

    PubMed Central

    Chopra, Amandeep; Lakhanpal, Manav; Rao, Nanak Chand; Gupta, Nidhi; Vashisth, Shelja

    2014-01-01

    Background: Oro-facial clefts are a major public health problem. Children with clefts rarely escape dental complications. Aims: This study was to determine differences in the dental caries experience, gingival health, and prevalence malocclusion, enamel defects and oral mucosal lesions among 4-6 year old children with and without cleft in Panchkula. Materials and Methods: The sampling frame consisted of 4-6 year old children with clefts visiting Swami Devi Dyal Hospital and Dental College, Panchkula, India. As a control group an age (±3 months) and gender-matched sample from the same geographical areas were recruited. Dental caries status, gingival health status, developmental defect of enamel, malocclusion and oral mucosal health were assessed and compared between the two groups. Results: Significant differences in dental caries and gingival health status were found between children with and without cleft. Anterior open-bite, increased overjet and oral mucosal lesions (P < 0.05) were more prevalent among children with clefts. Children with and without clefts had similar developmental defects of enamel (P > 0.05). Conclusion: Differences of oral health status exist among 4-6 year old children with and without clefts. Children fare worse in terms of dental caries, gingival health, oral mucosal health and malocclusion. PMID:25006561

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

    PubMed

    Mitsukawa, Nobuyuki; Satoh, Kaneshige; Morishita, Tadashi

    2010-09-01

    In recent years, advancement has been made in distraction osteogenesis in the facial area. It has been applied actively to treat maxillary hypoplasia in patients with cleft lip, palate, and alveolus. Le Fort I distraction using internal devices does not lead to disability in daily living, including during the retention period, and has low surgical invasiveness, facile management, and superior aesthetics. Thus, there have been occasional reports on this procedure in recent years. Because an internal device is unidirectional, the greatest disadvantage is the inability to adjust the direction of distraction after its placement. However, past reports have emphasized its advantages, and its complications have rarely been discussed. We performed Le Fort I distraction using internal devices on 15 young patients. Our results showed notable complications in a few cases. When serial cephalometric analysis was performed after maxillary distraction, it demonstrated that the maxilla assumes various three-dimensional distraction morphologies. In particular, cases with insufficient bone grafting of alveolar clefts developed collapse mainly in the alveolar cleft region during postoperative distraction. Mobility and deviation of the maxillary bone fragment occurred. We implemented preventative measures against complications such as using modifications to place the devices parallel on the left and right sides and using a bite splint for distraction. These measures produced improved outcomes, and we describe here the details. PMID:20856032

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

    PubMed Central

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

    2014-01-01

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

  9. Cleft Palate, Moderate Lung Developmental Retardation and Early Postnatal Lethality in Mice Deficient in the Kir7.1 Inwardly Rectifying K+ Channel

    PubMed Central

    López-Cayuqueo, Karen I.; Lai, Ka-Man Venus; Valenzuela, David M.; Cid, L. Pablo; Sepúlveda, Francisco V.

    2015-01-01

    Kir7.1 is an inwardly rectifying K+ channel of the Kir superfamily encoded by the kcnj13 gene. Kir7.1 is present in epithelial tissues where it colocalizes with the Na+/K+-pump probably serving to recycle K+ taken up by the pump. Human mutations affecting Kir7.1 are associated with retinal degeneration diseases. We generated a mouse lacking Kir7.1 by ablation of the Kcnj13 gene. Homozygous mutant null mice die hours after birth and show cleft palate and moderate retardation in lung development. Kir7.1 is expressed in the epithelium covering the palatal processes at the time at which palate sealing takes place and our results suggest it might play an essential role in late palatogenesis. Our work also reveals a second unexpected role in the development and the physiology of the respiratory system, where Kir7.1 is expressed in epithelial cells all along the respiratory tree. PMID:26402555

  10. Common Mutations of the Methylenetetrahydrofolate Reductase (MTHFR) Gene in Non-Syndromic Cleft Lips and Palates Children in North-West of Iran

    PubMed Central

    Abdollahi-Fakhim, Shahin; Asghari Estiar, Mehrdad; Varghaei, Parizad; Alizadeh Sharafi, Mahdi; Sakhinia, Masoud; Sakhinia, Ebrahim

    2015-01-01

    Introduction: Cleft lips and cleft palates are common congenital abnormalities in children. Various chromosomal loci have been suggested to be responsible the development of these abnormalities. The present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [MTHFR] A1298C and C677T) that might contribute into the etiology of these disorders through application of molecular methods. Materials and Methods: This cross-sectional and explanatory study was carried out on a study population of 65 affected children, 130 respective parents and 50 healthy individuals between 2009 and 2012 at Tabriz University of Medical Sciences, IR Iran. After DNA extraction, amplification refractory mutation system–polymerase chain reaction (ARMS-PCR) and restriction fragment length polymorphism (RFLP)-PCR were used respectively to investigate the C677T and A1298C mutations for the MTHFR gene. Results: There was a significant difference in the rates of the C677T mutation when affected patients and their fathers were compared with the control group (odds ratio [OR]=0.44) (OR=0.64). However, there was no significant difference observed in the rate of this mutation between the patients’ mothers and the control group (OR=1.35). In addition, the abnormality rate was higher in patients with the A1298C mutation and their parents, when compared with the control group. This abnormality rate was higher for the affected children and their fathers in comparison with their mothers (Fathers, OR=0.26; Mothers, OR=0.65; Children, OR=0.55). No significant difference was seen in the rate of the polymorphism C677T in its CC, when the affected children and their parents were compared with the control group. However, there was a significant difference in the A1298C mutation. Conclusion: An association was seen between the A1298C mutation and cleft lip and cleft palate abnormalities in Iran. However, there seems to be a stronger relationship

  11. Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome

    PubMed Central

    Sever, Alysse J.; Koets, Michael D.; Sabharwal, Gauravi K.

    2015-01-01

    A male infant was born with a bilateral cleft lip and/or palate, absent nasal structures, left anophthalmos, right coloboma, and bilateral fifth digit clinodactly. Brain magnetic resonance imaging revealed severe asymmetric hydrocephalus, absent corpus callosum, a suprasellar mass with a high riding third ventricle, and no pituitary gland. He had a normal male karyotype and normal prenatal laboratory testing. He had no significant family history and no renal, vertebral, gastrointestinal, or cardiac malformations. This combination of central nervous system findings, ocular and craniofacial abnormalities, a normal karyotype, and limited skeletal abnormalities to our knowledge has only been previously described once in the literature in association with a disruption in Pax and Sonic Hedgehog protein pathways, and we conclude this patient represents a variant of this described syndrome. PMID:26649128

  12. Genome Scan, Fine-Mapping, and Candidate Gene Analysis of Non-Syndromic Cleft Lip with or without Cleft Palate Reveals Phenotype-Specific Differences in Linkage and Association Results

    PubMed Central

    Marazita, Mary L.; Lidral, Andrew C.; Murray, Jeffrey C.; Field, L.Leigh; Maher, Brion S.; Goldstein McHenry, Toby; Cooper, Margaret E.; Govil, Manika; Daack-Hirsch, Sandra; Riley, Bridget; Jugessur, Astanand; Felix, Temis; Morene, Lina; Mansilla, M.Adela; Vieira, Alexandre R.; Doheny, Kim; Pugh, Elizabeth; Valencia-Ramirez, Consuelo; Arcos-Burgos, Mauricio

    2009-01-01

    Objectives Non-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P). Methods We performed linkage analyses of a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant linkage results were followed by association analyses of 1,476 SNPs in candidate genes and regions, utilizing a weighted false discovery rate (wFDR) approach to control for multiple testing and incorporate the genome scan results. Results Significant (multipoint HLOD ≥3.2) or genome-wide-significant (HLOD ≥4.02) linkage results were found for regions 1q32, 2p13, 3q27-28, 9q21, 12p11, 14q21-24 and 16q24. SNPs in IRF6 (1q32) and in or near FOXE1 (9q21) reached formal genome-wide wFDR-adjusted significance. Further, results were phenotype dependent in that the IRF6 region results were most significant for families in which affected individuals have CL alone, and the FOXE1 region results were most significant in families in which some or all of the affected individuals have CL with CP. Conclusions These results highlight the importance of careful phenotypic delineation in large samples of families for genetic analyses of complex, heterogeneous traits such as CL/P. PMID:19521098

  13. Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate

    PubMed Central

    Blanton, Susan H.; Burt, Amber; Stal, Samuel; Mulliken, John B.; Garcia, Elizabeth; Hecht, Jacqueline T.

    2010-01-01

    BACKGROUND Nonsyndromic cleft lip with or without cleft palate is a common birth defect. While a number of susceptibility loci have been reported, replication has often been lacking. This is likely due, in part, to heterogeneity of datasets and methodologies employed. Two independent genome-wide association studies of individuals of largely western European extraction have identified a possible susceptibility locus on 8q24.21. METHODS In order to determine the overall impact of this locus, we genotyped six of the previously associated SNPs in our Hispanic and nonHispanic white family-based datasets and evaluated them for linkage and association. In addition, we genotyped a large African-American NSCLP family that we had previously mapped to the 8q21.3-24.12 region to test for linkage. RESULTS There was no evidence for linkage to this region in any of the three ethnic groups. Nevertheless, strong evidence for association was noted in the nonHispanic white group, whereas none was detected in the Hispanic dataset. CONCLUSION These results confirm the previously reported association and provide evidence suggesting that there is ethnically-based heterogeneity for this locus. PMID:20196142

  14. A comparison of computer versus panel assessment of two groups of patients with cleft lip and palate.

    PubMed

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

    1993-01-01

    A computer-based system of assessing asymmetry was used to compare standardised photographs of primarily corrected cleft noses, uncorrected cleft noses and control (normal) noses. A significant difference was found between control and cleft groups for both upper nasal perimeter (p < 0.001) and nostril outline (p = 0.001), and between uncorrected and corrected noses for upper nasal perimeter (p = 0.03) but not for nostril outline (p = 0.99). Comparing the results achieved by panel assessment (Cussons et al., 1992) with this of the same patients revealed some discordance related to the influence of extraneous factors on panel decisions. Panel assessment is needed in the evaluation of overall appearance, whilst the computer method is able to assess the results of different techniques, and from different centres, on specific features where symmetry is a major objective of surgical technique. PMID:8431736

  15. Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene.

    PubMed

    Ludwig, Kerstin U; Ahmed, Syeda Tasnim; Böhmer, Anne C; Sangani, Nasim Bahram; Varghese, Sheryil; Klamt, Johanna; Schuenke, Hannah; Gültepe, Pinar; Hofmann, Andrea; Rubini, Michele; Aldhorae, Khalid Ahmed; Steegers-Theunissen, Regine P; Rojas-Martinez, Augusto; Reiter, Rudolf; Borck, Guntram; Knapp, Michael; Nakatomi, Mitsushiro; Graf, Daniel; Mangold, Elisabeth; Peters, Heiko

    2016-03-01

    Nonsyndromic orofacial clefts are common birth defects with multifactorial etiology. The most common type is cleft lip, which occurs with or without cleft palate (nsCLP and nsCLO, respectively). Although genetic components play an important role in nsCLP, the genetic factors that predispose to palate involvement are largely unknown. In this study, we carried out a meta-analysis on genetic and clinical data from three large cohorts and identified strong association between a region on chromosome 15q13 and nsCLP (P = 8.13 × 10(-14) for rs1258763; relative risk (RR): 1.46, 95% confidence interval (CI): 1.32-1.61)) but not nsCLO (P = 0.27; RR: 1.09 (0.94-1.27)). The 5 kb region of strongest association maps downstream of Gremlin-1 (GREM1), which encodes a secreted antagonist of the BMP4 pathway. We show during mouse embryogenesis, Grem1 is expressed in the developing lip and soft palate but not in the hard palate. This is consistent with genotype-phenotype correlations between rs1258763 and a specific nsCLP subphenotype, since a more than two-fold increase in risk was observed in patients displaying clefts of both the lip and soft palate but who had an intact hard palate (RR: 3.76, CI: 1.47-9.61, Pdiff<0.05). While we did not find lip or palate defects in Grem1-deficient mice, wild type embryonic palatal shelves developed divergent shapes when cultured in the presence of ectopic Grem1 protein (P = 0.0014). The present study identified a non-coding region at 15q13 as the second, genome-wide significant locus specific for nsCLP, after 13q31. Moreover, our data suggest that the closely located GREM1 gene contributes to a rare clinical nsCLP entity. This entity specifically involves abnormalities of the lip and soft palate, which develop at different time-points and in separate anatomical regions. PMID:26968009

  16. Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

    PubMed Central

    Ludwig, Kerstin U.; Ahmed, Syeda Tasnim; Böhmer, Anne C.; Sangani, Nasim Bahram; Varghese, Sheryil; Klamt, Johanna; Schuenke, Hannah; Gültepe, Pinar; Hofmann, Andrea; Rubini, Michele; Aldhorae, Khalid Ahmed; Steegers-Theunissen, Regine P.; Rojas-Martinez, Augusto; Reiter, Rudolf; Borck, Guntram; Knapp, Michael; Nakatomi, Mitsushiro; Graf, Daniel; Mangold, Elisabeth; Peters, Heiko

    2016-01-01

    Nonsyndromic orofacial clefts are common birth defects with multifactorial etiology. The most common type is cleft lip, which occurs with or without cleft palate (nsCLP and nsCLO, respectively). Although genetic components play an important role in nsCLP, the genetic factors that predispose to palate involvement are largely unknown. In this study, we carried out a meta-analysis on genetic and clinical data from three large cohorts and identified strong association between a region on chromosome 15q13 and nsCLP (P = 8.13×10−14 for rs1258763; relative risk (RR): 1.46, 95% confidence interval (CI): 1.32–1.61)) but not nsCLO (P = 0.27; RR: 1.09 (0.94–1.27)). The 5 kb region of strongest association maps downstream of Gremlin-1 (GREM1), which encodes a secreted antagonist of the BMP4 pathway. We show during mouse embryogenesis, Grem1 is expressed in the developing lip and soft palate but not in the hard palate. This is consistent with genotype-phenotype correlations between rs1258763 and a specific nsCLP subphenotype, since a more than two-fold increase in risk was observed in patients displaying clefts of both the lip and soft palate but who had an intact hard palate (RR: 3.76, CI: 1.47–9.61, Pdiff<0.05). While we did not find lip or palate defects in Grem1-deficient mice, wild type embryonic palatal shelves developed divergent shapes when cultured in the presence of ectopic Grem1 protein (P = 0.0014). The present study identified a non-coding region at 15q13 as the second, genome-wide significant locus specific for nsCLP, after 13q31. Moreover, our data suggest that the closely located GREM1 gene contributes to a rare clinical nsCLP entity. This entity specifically involves abnormalities of the lip and soft palate, which develop at different time-points and in separate anatomical regions. PMID:26968009

  17. Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate

    PubMed Central

    Chiquet, Brett T; Hashmi, Syed S; Henry, Robin; Burt, Amber; Mulliken, John B; Stal, Samuel; Bray, Molly; Blanton, Susan H; Hecht, Jacqueline T

    2009-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth anomaly that requires prolonged multidisciplinary rehabilitation. Although variation in several genes has been identified as contributing to NSCLP, most of the genetic susceptibility loci have yet to be defined. To identify additional contributory genes, a high-throughput genomic scan was performed using the Illumina Linkage IVb Panel platform. We genotyped 6008 SNPs in nine non-Hispanic white NSCLP multiplex families and a single large African-American NSCLP multiplex family. Fourteen chromosomal regions were identified with LOD>1.5, including six regions not previously reported. Analysis of the data from the African-American and non-Hispanic white families revealed two likely chromosomal regions: 8q21.3–24.12 and 22q12.2–12.3 with LOD scores of 2.98 and 2.66, respectively. On the basis of biological function, syndecan 2 (SDC2) and growth differentiation factor 6 (GDF6) in 8q21.3–24.12 and myosin heavy-chain 9, non-muscle (MYH9) in 22q12.2–12.3 were selected as candidate genes. Association analyses from these genes yielded marginally significant P-values for SNPs in SDC2 and GDF6 (0.01≤P<0.05). Evidence for an altered transmission was found for four MYH9 SNPs (P<0.01). SNP rs1002246 exhibited altered transmission by all analytic methods. However, analysis of two SNP MYH9 haplotypes did not identify a single high-risk haplotype. Our results confirm a previous report that 8q21.3–24.12 may harbor a clefting gene and identify 22q12.2–12.3 as a new candidate region that contains MYH9. Most importantly, we confirm the previous report of an association with MYH9. PMID:18716610

  18. Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.

    PubMed

    Chiquet, Brett T; Hashmi, Syed S; Henry, Robin; Burt, Amber; Mulliken, John B; Stal, Samuel; Bray, Molly; Blanton, Susan H; Hecht, Jacqueline T

    2009-02-01

    Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth anomaly that requires prolonged multidisciplinary rehabilitation. Although variation in several genes has been identified as contributing to NSCLP, most of the genetic susceptibility loci have yet to be defined. To identify additional contributory genes, a high-throughput genomic scan was performed using the Illumina Linkage IVb Panel platform. We genotyped 6008 SNPs in nine non-Hispanic white NSCLP multiplex families and a single large African-American NSCLP multiplex family. Fourteen chromosomal regions were identified with LOD>1.5, including six regions not previously reported. Analysis of the data from the African-American and non-Hispanic white families revealed two likely chromosomal regions: 8q21.3-24.12 and 22q12.2-12.3 with LOD scores of 2.98 and 2.66, respectively. On the basis of biological function, syndecan 2 (SDC2) and growth differentiation factor 6 (GDF6) in 8q21.3-24.12 and myosin heavy-chain 9, non-muscle (MYH9) in 22q12.2-12.3 were selected as candidate genes. Association analyses from these genes yielded marginally significant P-values for SNPs in SDC2 and GDF6 (0.01clefting gene and identify 22q12.2-12.3 as a new candidate region that contains MYH9. Most importantly, we confirm the previous report of an association with MYH9. PMID:18716610

  19. The Importance of Integration of Stakeholder Views in Core Outcome Set Development: Otitis Media with Effusion in Children with Cleft Palate

    PubMed Central

    Harman, Nicola L.; Bruce, Iain A.; Kirkham, Jamie J.; Tierney, Stephanie; Callery, Peter; O'Brien, Kevin; Williamson, Paula R.

    2015-01-01

    Background Approximately 75% of children with cleft palate (CP) have Otitis Media with Effusion (OME) histories. Evidence for the effective management of OME in these children is lacking. The inconsistency in outcome measurement in previous studies has led to a call for the development of a Core Outcome Set (COS). Despite the increase in the number of published COS, involvement of patients in the COS development process, and methods to integrate the views of patients and health professionals, to date have been limited. Methods and Findings A list of outcomes measured in previous research was identified through reviewing the literature. Opinion on the importance of each of these outcomes was then sought from key stakeholders: Ear, Nose and Throat (ENT) surgeons, audiologists, cleft surgeons, speech and language therapists, specialist cleft nurses, psychologists, parents and children. The opinion of health professionals was sought in a three round Delphi survey where participants were asked to score each outcome using a bespoke online system. Parents and children were also asked to score outcomes in a survey and provided an in-depth insight into having OME through semi-structured interviews. The results of the Delphi survey, interviews and parent/patient survey were brought together in a final consensus meeting with representation from all stakeholders. A final set of eleven outcomes reached the definition of “consensus in” to form the recommended COS: hearing; chronic otitis media (COM); OME; receptive language skills; speech development; psycho social development; acute otitis media (AOM); cholesteatoma; side effects of treatment; listening skills; otalgia. Conclusions We have produced a recommendation about the outcomes that should be measured, as a minimum, in studies of the management of OME in children with CP. The development process included input from key stakeholders and used novel methodology to integrate the opinion of healthcare professionals

  20. A Multicenter Study Using the SWAG Scale to Compare Secondary Alveolar Bone Graft Outcomes for Patients With Cleft Lip and Palate.

    PubMed

    Russell, Kathleen; Long, Ross E; Daskalogiannakis, John; Mercado, Ana; Hathaway, Ronald; Semb, Gunvor; Shaw, William

    2016-03-01

    Objective To assess secondary alveolar bone graft (ABG) outcomes using the standardized way to assess grafts, or SWAG scale, for patients with cleft lip and palate (CLP). Design Retrospective cohort study. Setting Four cleft centers with different protocols. Methods One hundred sixty maxillary occlusal radiographs taken 3 to 18 months after secondary ABG for sequentially treated patients with CLP were assessed using the SWAG scale. Radiographs were scanned, standardized, blinded, and rated by six orthodontists using the SWAG scale. Randomized radiographs were rated twice, 24 hours apart, by the same raters. Main Outcomes Intrarater and interrater reliabilities were assessed. Means and SDs were calculated for ABG ratings using analysis of variance and Tukey tests (P < .05). Result The mean ABG age was 9.1 years (range = 7 to 10.1 years) and the mean follow-up age was 12.4 years (range = 8.2 to 20.4 years). Intrarater and interrater reliabilities were good (intrarater = 0.788, interrater = 0.705), and higher than published methods. Mean ABG ratings for the cleft centers were 4.53, 2.9, 3.63, and 5.0 and differed significantly. The two centers with the highest ABG ratings showed higher ratings for all thirds decreasing from apical to coronal. The two centers with lower ABG ratings showed poorer ABG ratings for all thirds, and the middle third received the highest ratings. Conclusions The SWAG scale overcomes the challenges of age and bone location. The SWAG method was validated for showing intercenter differences for overall bone fill as well as in vertical thirds. Surgical technique, timing, and expertise/volume were identified as possible factors related to outcome. PMID:25898149

  1. Long non-coding RNA H19-mediated mouse cleft palate induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin

    PubMed Central

    GAO, LIYUN; YIN, JUN; WU, WEIDONG

    2016-01-01

    Long non-coding RNAs (lncRNAs) are a novel class of transcripts, which are pervasively transcribed in the genome and a have greatly unknown biological function. Previous studies have identified that lncRNAs serve an important role in embryonic development. However, the function and mechanism of lncRNAs in the development of palate remains unclear. The aim of the present study was to investigate the role of lncRNA H19 in cleft palate (CP) development in mice. 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) is a well-known teratogen that can induce CP. After establishing a CP mouse model by oral administration of TCDD in vivo, no significant differences were detected in the tail length and body weight of fetuses between the TCDD-treated and control groups during the embryonic days 12 to 17. Furthermore, the expression levels of lncRNA H19 and target gene insulin-like growth factor 2 (IGF2) presented specific embryo age-associated differences during the entire development of CP in mice. An inverse correlation was identified between lncRNA H19 and IGF2 expression levels in the CP model. In conclusion, these findings revealed that lncRNA H19 mediated the CP induced by TCDD in mice. PMID:27284320

  2. The embryonic expression of EphA receptor genes in mice supports their candidacy for involvement in cleft lip and palate

    PubMed Central

    Agrawal, Puja; Wang, Michael; Kim, Seungil; Lewis, Ace E.; Bush, Jeffrey O.

    2015-01-01

    Background Eph receptors, comprising the A- and B- subfamilies, are the largest family of receptor tyrosine kinases in the mammalian genome, and their function is critical for morphogenesis in a variety of contexts. Whereas signaling through B-type Ephs has been demonstrated to play a role in cleft lip and palate (CL/P), the involvement of A-type Ephs has not been examined in this context notwithstanding a recent genome-wide association study that identified the EPHA3 locus as a candidate for non-syndromic CL/P. Results Here we present a systematic analysis of the gene expression patterns for the nine EphA receptors at progressive stages of mouse development and find that EphA3, EphA4 and EphA7 exhibit restricted overlapping patterns of expression during palate development. We find that homozygous mutation of EphA3 or compound homozygous mutation of EphA3 and EphA4 in mice does not result in defective midfacial development, supporting the possibility of redundant function with EphA7. We also document previously undescribed expression patterns in other tissues of the craniofacial complex including the lacrimal duct and salivary glands. Conclusions Together, these results are consistent with the hypothesis that mutations in EPHA family genes may cause CL/P and also suggest that functional redundancy between family members may be at play. PMID:25073978

  3. Bone grafting, corticotomy, and orthodontics: treatment of cleft alveolus in a chinese cohort.

    PubMed

    Mao, Li-Xia; Shen, Guo-Fang; Fang, Bing; Xia, Yun-Hui; Ma, Xu-Hui; Wang, Bo

    2013-11-01

    Objective : A multimodal therapy was applied to solve a set of related problems including collapse of the posterior segment, high level gingival margin of canine, and resorption of grafted bone in a cohort of Chinese youngsters with cleft lip and palate. This study aimed to evaluate the benefits of this treatment procedure. Methods : Thirty patients with unilateral cleft lip and palate were included in this prospective study. All patients had previously undergone only cleft lip and palate repair and presented with alveolar cleft and an obvious step in the gingival margin between the canine tooth and the teeth beside it. A multimodal therapy that included bone grafting, corticotomy, and orthodontics was applied to solve these problems. Grafted bone volume, parallelism of the roots, root resorption, gingival margin, and mobility of the canine on the cleft side were established before surgery, 1 week after surgery, and after straightening of the canine. Results : Less than 25% of the grafted bone was reabsorbed in 25 of the 30 patients, while less than 50% was resorbed in the remaining five. The roots of the canines on the cleft side were mostly parallel to the adjacent teeth. Root resorption and mobility of the canines were slight. The difference in the gingival margin between the canines on the cleft side and the other side was small. Conclusions : Canines moved into the grafted bone safely and effectively, thus achieving a normal gingival margin and retaining grafted bone volume in one operation. PMID:22849663

  4. Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

    PubMed Central

    Leslie, Elizabeth J.; Taub, Margaret A.; Liu, Huan; Steinberg, Karyn Meltz; Koboldt, Daniel C.; Zhang, Qunyuan; Carlson, Jenna C.; Hetmanski, Jacqueline B.; Wang, Hang; Larson, David E.; Fulton, Robert S.; Kousa, Youssef A.; Fakhouri, Walid D.; Naji, Ali; Ruczinski, Ingo; Begum, Ferdouse; Parker, Margaret M.; Busch, Tamara; Standley, Jennifer; Rigdon, Jennifer; Hecht, Jacqueline T.; Scott, Alan F.; Wehby, George L.; Christensen, Kaare; Czeizel, Andrew E.; Deleyiannis, Frederic W.-B.; Schutte, Brian C.; Wilson, Richard K.; Cornell, Robert A.; Lidral, Andrew C.; Weinstock, George M.; Beaty, Terri H.; Marazita, Mary L.; Murray, Jeffrey C.

    2015-01-01

    Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and European trios, and carried out a series of statistical and functional analyses. Within a cluster of strongly associated common variants near NOG, we found that one, rs227727, disrupts enhancer activity. We furthermore identified significant clusters of non-coding rare variants near NTN1 and NOG and found several rare coding variants likely to affect protein function, including four nonsense variants in ARHGAP29. We confirmed 48 de novo mutations and, based on best biological evidence available, chose two of these for functional assays. One mutation in PAX7 disrupted the DNA binding of the encoded transcription factor in an in vitro assay. The second, a non-coding mutation, disrupted the activity of a neural crest enhancer downstream of FGFR2 both in vitro and in vivo. This targeted sequencing study provides strong functional evidence implicating several specific variants as primary contributory risk alleles for nonsyndromic clefting in humans. PMID:25704602

  5. Exploratory genotype–phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate

    PubMed Central

    Miller, Steven F; Weinberg, Seth M; Nidey, Nichole L; Defay, David K; Marazita, Mary L; Wehby, George L; Moreno Uribe, Lina M

    2014-01-01

    Family relatives of children with nonsyndromic cleft lip with or without cleft palate (NSCL/P) who presumably carry a genetic risk yet do not manifest overt oral clefts, often present with distinct facial morphology of unknown genetic etiology. This study investigates distinct facial morphology among unaffected relatives and examines whether candidate genes previously associated with overt NSCL/P and left–right body patterning are correlated with such facial morphology. Cases were unaffected relatives of individuals with NSCL/P (n = 188) and controls (n = 194) were individuals without family history of NSCL/P. Cases and controls were genotyped for 20 SNPs across 13 candidate genes for NSCL/P (PAX7, ABCA4-ARHGAP29, IRF6, MSX1, PITX2, 8q24, FOXE1, TGFB3 and MAFB) and left–right body patterning (LEFTY1, LEFTY2, ISL1 and SNAI1). Facial shape and asymmetry phenotypes were obtained via principal component analyses and Procrustes analysis of variance from 32 coordinate landmarks, digitized on 3D facial images. Case–control comparisons of phenotypes obtained were performed via multivariate regression adjusting for age and gender. Phenotypes that differed significantly (P < 0.05) between cases and controls were regressed on the SNPs one at a time. Cases had significantly (P < 0.05) more profile concavity with upper face retrusion, upturned noses with obtuse nasolabial angles, more protrusive chins, increased lower facial heights, thinner and more retrusive lips and more protrusive foreheads. Furthermore, cases showed significantly more directional asymmetry compared to controls. Several of these phenotypes were significantly associated with genetic variants (P < 0.05). Facial height and width were associated with SNAI1. Midface antero-posterior (AP) projection was associated with LEFTY1. The AP position of the chin was related to SNAI1, IRF6, MSX1 and MAFB. The AP position of the forehead and the width of the mouth were associated with ABCA4–ARHGAP29 and

  6. Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate

    PubMed Central

    Savitha, Sathyaprasad; Sharma, S. M.; Veena, Shetty; Rekha, R.

    2015-01-01

    Background: The bone morphogenetic protein (BMP) signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation. Aim: To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P) and identify it directly from human analyses. Materials and Methods: A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A) in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations) were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP. Results: Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99). The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41). Conclusion: This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality. PMID:26424979

  7. 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

  8. Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the [beta][sub 3] subunit of the type A [gamma]-aminobutyric acid receptor

    SciTech Connect

    Culiat, C.T.; Stubbs, L.; Nicholls, R.D.; Montgomery, C.S.; Russell, L.B.; Johnson, D.K. ); Rinchik, E.M. Univ. of Florida, Gainesville )

    1993-06-01

    Genetic and molecular analyses of a number of radiation-induced deletion mutations of the pink-eyed dilution (p) locus in mouse chromosome 7 have identified a specific interval on the genetic map associated with a neonatally lethal mutation that results in cleft palate. This interval, closely linked and distal to p, and bracketed by the genes encoding the [alpha][sub 5] and [beta][sub 3] subunits of the type A [gamma]-aminobutyric acid receptor (Gabra5 and Gabrb3, respectively), contains a gene(s) (cp1; cleft palate 1) necessary for normal palate development. The cp1 interval extends from the distal breakpoint of the prenatally lethal p[sup 83FBFo] deletion to the Gabrb3 locus. Among 20 p deletions tested, there was complete concordance between alterations at the Gabrb3 transcription unit and inability to complement the cleft-palate defect. These mapping data, along with previously described in vivo and in vitro teratological effects of [gamma]-aminobutyric acid or its agonists on palate development, suggest the possibility that a particular type A [gamma]-aminobutyric acid receptor that includes the [beta][sub 3] subunit may be necessary for normal palate development. The placement of the cp1 gene within a defined segment of the larger D15S12h (p)-D15S9h-1 interval in the mouse suggests that the highly homologous region of the human genome, 15q11-q13, be evaluated for a role(s) in human fetal facial development. 29 refs., 4 figs., 1 tab.

  9. International Task Force on Volunteer Cleft Missions.

    PubMed

    Yeow, Vincent K L; Lee, Seng-Teik T; Lambrecht, Thomas J; Barnett, John; Gorney, Mark; Hardjowasito, Widanto; Lemperle, Gottfried; McComb, Harold; Natsume, Nagato; Stranc, Mirek; Wilson, Libby

    2002-01-01

    The International Task Force on Volunteer Cleft Missions was set up to provide a report to be presented at the Eighth International Congress of Cleft Palate and Associated Craniofacial Anomalies on September 12, 1997, in Singapore. The aim of the report was to provide data from a wide range of different international teams performing volunteer cleft missions and, thereafter, based on the collected data, to identify common goals and aims of such missions. Thirteen different groups actively participating in volunteer cleft missions worldwide were selected from the International Confederation of Plastic and Reconstructive Surgery's list of teams actively participating in volunteer cleft missions. Because of the time frame within which the committee had to work, three groups that did not respond by the stipulated deadline were omitted from the committee. The represented members and their respective institutions have undertaken more than 50 volunteer cleft missions to underdeveloped nations worldwide within the last 3 years. They have visited over 20 different countries, treating more than 3,500 patients worldwide. Based on the data collected and by consensus, the committee outlined recommendations for future volunteer cleft missions based on 1) mission objectives, 2) organization, 3) personal health and liability, 4) funding, 5) trainees in volunteer cleft missions, and 6) public relations. The task force believed that all volunteer cleft missions should have well-defined objectives, preferably with long-term plans. The task force also decided that it was impossible to achieve a successful mission without good organization and close coordination. All efforts should be made, and care taken, to ensure that there is minimal morbidity and no mortality. Finally, as ambassadors of goodwill and humanitarian aid, the participants must make every effort to understand and respect local customs and protocol. The main aims are to provide top-quality surgical service, train local

  10. Uncommon oral cleft in Wolf-Hirschhorn syndrome.

    PubMed

    Aquino, Sibele Nascimento de; Machado, Renato A; Paranaíba, Lívia Maris R; Coletta, Ricardo D; Aguiar, Marcos J Burle de; Fernandes, Cassandro; Martelli Júnior, Hercílio

    2015-01-01

    Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described. PMID:25831115

  11. A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1

    PubMed Central

    Lidral, Andrew C.; Liu, Huan; Bullard, Steven A.; Bonde, Greg; Machida, Junichiro; Visel, Axel; Uribe, Lina M. Moreno; Li, Xiao; Amendt, Brad; Cornell, Robert A.

    2015-01-01

    Three common diseases, isolated cleft lip and cleft palate (CLP), hypothyroidism and thyroid cancer all map to the FOXE1 locus, but causative variants have yet to be identified. In patients with CLP, the frequency of coding mutations in FOXE1 fails to account for the risk attributable to this locus, suggesting that the common risk alleles reside in nearby regulatory elements. Using a combination of zebrafish and mouse transgenesis, we screened 15 conserved non-coding sequences for enhancer activity, identifying three that regulate expression in a tissue specific pattern consistent with endogenous foxe1 expression. These three, located −82.4, −67.7 and +22.6 kb from the FOXE1 start codon, are all active in the oral epithelium or branchial arches. The −67.7 and +22.6 kb elements are also active in the developing heart, and the −67.7 kb element uniquely directs expression in the developing thyroid. Within the −67.7 kb element is the SNP rs7850258 that is associated with all three diseases. Quantitative reporter assays in oral epithelial and thyroid cell lines show that the rs7850258 allele (G) associated with CLP and hypothyroidism has significantly greater enhancer activity than the allele associated with thyroid cancer (A). Moreover, consistent with predicted transcription factor binding differences, the −67.7 kb element containing rs7850258 allele G is significantly more responsive to both MYC and ARNT than allele A. By demonstrating that this common non-coding variant alters FOXE1 expression, we have identified at least in part the functional basis for the genetic risk of these seemingly disparate disorders. PMID:25652407

  12. Polymorphic human (CTAT)n microsatellite provides a conserved linkage marker for mouse mutants causing cleft palate, vestibular defects, obesity and ataxia

    SciTech Connect

    Griffith, A.J.; Burgess, D.L.; Kohrman, D.

    1994-09-01

    The Twirler mutation (Tw) causing cleft palate {plus_minus} cleft lip, vestibular defects and obesity is located within 0.5 cM of an ataxia locus (ax) on mouse chromosome 18. We identified a transgene-induced insertional mutation with vestibular and craniofacial defects that appears to be a new allele of Twirler. Mouse DNA flanking the transgene insertion site was isolated from a cosmid library. An evolutionarily conserved, zoo blot positive cosmid subclone was used to probe a human {lambda} genomic library. From the sequence of a highly homologous human {lambda} clone, we designed STS primers and screened a human P1 library. DNA from two positive P1 clones was hybridized with simple sequence probes, and a (CTAT){sub 12} repeat was detected. Analysis of 62 CEPH parents with primers flanking the repeat identified six alleles containing 9 to 14 copies of the repeat, at frequencies of 0.17, 0.17, 0.17, 0.27, 0.15 and 0.07, respectively. The observed heterozygosity was 49/62 with a calculated PIC value of 0.76. This polymorphic microsatellite marker, designated Umi3, was mapped to the predicted conserved human linkage group by analysis of somatic cell hybrid panels. The anticipated short distance between Umi3 and the disease genes will facilitate detection of linkage in small families. We would like to type appropriate human pedigrees with Umi3 in order to identify patients with inherited disorders homologous to the mouse mutations Twirler and ataxia.

  13. Impact of Sleep and Breathing in Infancy on Outcomes at Three Years of Age for Children with Cleft Lip and/or Palate

    PubMed Central

    Smith, Courtney B.; Walker, Karen; Badawi, Nadia; Waters, Karen A.; MacLean, Joanna E.

    2014-01-01

    Study Objectives: To evaluate the relationship between sleep disordered breathing (SDB) in early infancy and outcomes at 3 years of age in children with cleft lip and/or palate (CL/P). Design: Observational follow-up study. Setting: Multidisciplinary CL/P clinic, tertiary centre. Participants: Children with CL/P who participated in a study of sleep and breathing in infancy. Measurements and Results: The families of 52 children were approached for this follow-up study. The children underwent neurocognitive (Bayley Scales of Infant and Toddler Development, Third Edition; BSID-III), quality of life (Infant/Toddler Quality of Life Questionnaire; ITQOL), and growth assessments at 3 years. The families of 33 children (66%) completed follow-up at 36.7 ± 1.4 months. The apnea-hypopnea index (AHI) in infancy was 23.9 ± 18.0 events/h. Mean group BSID-III scores fell within the standardized normal range (10 ± 3) for all domains; however, language scores were lower than control children. Quality of life scores and growth parameter z-scores were similar to published control data. PSG variables in infancy showed significant relationships with outcomes at 3 years of age; lower percentage of AS/REM sleep was associated with lower cognition score; more obstructive events were associated with lower global behavior ITQOL score; and higher number of respiratory events in infancy was associated with lower weight z-score. Conclusion: Neurocognition, quality of life, and growth measures from children with CL/P fall within a normal range; however, scores in the language domain are lower than controls. Sleep and respiratory elements of SDB in infancy appear to modify these outcomes at 3 years of age. Citation: Smith CB, Walker K, Badawi N, WAters KA, MacLean JE. Impact of sleep and breathing in infancy on outcomes at three years of age for children with cleft lip and/or palate. SLEEP 2014;37(5):919-925. PMID:24790270

  14. Multiple phonetically trained-listener comparisons of speech before and after articulatory intervention in two children with repaired submucous cleft palate.

    PubMed

    Roxburgh, Zoe; Cleland, Joanne; Scobbie, James M

    2016-01-01

    Cleft Palate (CP) assessments based on phonetic transcription are the "gold standard" therapy outcome measure, despite reliability difficulties. Here we propose a novel perceptual evaluation, applied to ultrasound-visual biofeedback (U-VBF) therapy and therapy using visual articulatory models (VAMs) for two children with repaired submucous CP. Three comparisons were made: post VAM, post U-VBF and overall pre- and post-therapy. Twenty-two phonetically-trained listeners were asked to determine whether pre- or post-therapy recordings sounded "closer to the English target", using their own implicit phonological knowledge (prompted via orthographic representation). Results are compared with segment-oriented percent target consonant correct (PTCC) derived from phonetic transcriptions. Listener judgements and PTCC suggest that both children made improvements using both VAM and U-VBF. Statistical analysis showed listener agreement in each comparison, though agreement was weak. However, perceptual evaluation offers a straightforward method of evaluating the effectiveness of interventions and can be used by phonetically trained or lay listeners. PMID:26901243

  15. Partial trisomy 3p and partial monosomy 11q associated with atrial septal defect, cleft palate, and developmental delay: a case report.

    PubMed

    Tan, E-C; Lim, E; Cham, B; Knight, L; Ng, I

    2011-01-01

    Unbalanced translocation involving both chromosome 3p duplication and 11q deletion in the same patient is extremely rare; only 1 live-born case was reported previously. This karyotype was also detected during prenatal diagnosis of 2 different pregnancies in a Taiwanese family which were both terminated. In all 3 cases, only standard karyotyping was done to detect the abnormal karyotypes. Here, we report a 4-year-old boy with cleft palate, atrial septal defect, and hypotonia with gross and fine motor delay. Oligonucleotide-based array comparative genomic hybridization showed copy number gain from 3pter to 3p24.2 (approximately 24.5 Mb) and copy number loss from 11q25 to 11qter (approximately 5.8 Mb). This de novo unbalanced translocation event involving a terminal 3p duplication and a terminal 11q deletion provides candidate genes for further investigation of dosage effect leading to the patient's multiple phenotypic abnormalities. Genotype-phenotype correlation is difficult to make in this case due to the large number of genes involved. However, the description of such cases together with precise gene-level mapping of chromosomal breakpoints will add to further refinement of candidate genes to be investigated for terminal imbalances in 3p and 11q when more similar cases are reported. PMID:21654159

  16. Difference in the Surgical Outcome of Unilateral Cleft Lip and Palate Patients with and without Pre-Alveolar Bone Graft Orthodontic Treatment

    PubMed Central

    Chang, Chun-Shin; Wallace, Christopher Glenn; Hsiao, Yen-Chang; Chiu, Yu-Ting; Pai, Betty Chien-Jung; Chen, I-Ju; Liao, Yu-Fang; Liou, Eric Jen-Wein; Chen, Philip Kuo-Ting; Chen, Jyh-Ping; Noordhoff, M. Samuel

    2016-01-01

    Presurgical orthodontic treatment before secondary alveolar bone grafting (SABG) is widely performed for cleft lip/palate patients. However, no randomized controlled trial has been published comparing SABG outcomes in patients with, and without, presurgical orthodontic treatment. This randomized, prospective, single-blinded trial was conducted between January 2012 and April 2015 to compare ABG volumes 6 months postoperatively between patients with and without presurgical orthodontic treatment. Twenty-four patients were enrolled and randomized and 22 patients completed follow-up. Patients who had presurgical orthodontics before SABG had significantly improved inclination (p < 0.001) and rotation (p < 0.001) of the central incisor adjacent to the defect, significantly improved ABG fill volume (0.81 ± 0.26 cm3 at 6 months compared to 0.59 ± 0.22 cm3; p < 0.05) and less residual alveolar bone defect (0.31 ± 0.08 cm3 at 6 months compared to s 0.55 ± 0.14 cm3; p < 0.001) compared to patients who did not have presurgical orthodontic treatment. In conclusion, orthodontic treatment combined with SABG results in superior bone volume when compared with conventional SABG alone. PMID:27041697

  17. The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X

    SciTech Connect

    Stainer, P.; Forbes, S.A.; Moore, G. ); Arnason, A.; Sveinbjornsdottir, E. ); Bjornsson, A. ); Williamson, R. )

    1993-09-01

    The locus responsible for X-linked, nonsyndromic cleft palate and/or ankyloglossia (CPX) has previously been mapped to the proximal long arm of the human X chromosome between Xq21.31 and q21.33 in an Icelandic kindred. The authors have extended these studies by analyzing an additional 14 informative markers in the family as well as including several newly investigated family members. Recombination analysis indicates that the CPX locus is more proximal than previously thought, within the interval Xq21.1-q21.31. Two recombinants place DXYS1X as the distal flanking marker, while one recombinant defines DXS326 as the proximal flanking marker, an interval of less than 5 cM. Each of the flanking markers recombines with the CPX locus, giving 2-point lod scores of Z[sub max] = 4.16 at [theta] = 0.08 (DXS326) and Z[sub max] = 5.80 at [theta] = 0.06 (DXYS1X). 35 refs., 3 figs., 2 tabs.

  18. IRF6 Sequencing in Interrupted Clefting.

    PubMed

    Cuddapah, Sanmati R; Kominek, Selma; Grant, John H; Robin, Nathaniel H

    2016-05-01

    In a retrospective review of patients seen at the University of Alabama at Birmingham Cleft and Craniofacial Center, four patients with rare interrupted clefting were identified who had undergone genetic testing. Each of these patients had a typical cleft lip, with intact hard palate and cleft of the soft palate. Given this picture of mixed clefting, IRF6 sequencing was done and was negative for mutations in all four patients. As genetic testing for single-gene mutations and exome sequencing become clinically available, it may be possible to identify novel mutations responsible for this previously unreported type of interrupted clefting. PMID:26090788

  19. [Palatal necrosis in children. Case report].

    PubMed

    Sancho, M A; Parri, F J; Raigosa, J M; Lerena, J; Cacéres, F; Muñoz, M E

    2006-04-01

    Palate necrosis as a consequence of palate infection it's an exceptional condition about there's not too much references at literature. We present a case of a 6 months old child who present a palatal necrosis after a supurative medial otitis that involved hard and soft palate, with positive culture for Pseudomona aeruginosa causing a almost complete absence of the palate that simulate a bilateral palatal cleft. PMID:16846136

  20. Tissue-plastinated vs. celloidin-embedded large serial sections in video, analog and digital photographic on-screen reproduction: a preliminary step to exact virtual 3D modelling, exemplified in the normal midface and cleft-lip and palate

    PubMed Central

    Landes, Constantin A; Weichert, Frank; Geis, Philipp; Wernstedt, Katrin; Wilde, Anja; Fritsch, Helga; Wagner, Mathias

    2005-01-01

    This study analyses tissue-plastinated vs. celloidin-embedded large serial sections, their inherent artefacts and aptitude with common video, analog or digital photographic on-screen reproduction. Subsequent virtual 3D microanatomical reconstruction will increase our knowledge of normal and pathological microanatomy for cleft-lip-palate (clp) reconstructive surgery. Of 18 fetal (six clp, 12 control) specimens, six randomized specimens (two clp) were BiodurE12-plastinated, sawn, burnished 90 µm thick transversely (five) or frontally (one), stained with azureII/methylene blue, and counterstained with basic-fuchsin (TP-AMF). Twelve remaining specimens (four clp) were celloidin-embedded, microtome-sectioned 75 µm thick transversely (ten) or frontally (two), and stained with haematoxylin–eosin (CE-HE). Computed-planimetry gauged artefacts, structure differentiation was compared with light microscopy on video, analog and digital photography. Total artefact was 0.9% (TP-AMF) and 2.1% (CE-HE); TP-AMF showed higher colour contrast, gamut and luminance, and CE-HE more red contrast, saturation and hue (P < 0.4). All (100%) structures of interest were light microscopically discerned, 83% on video, 76% on analog photography and 98% in digital photography. Computed image analysis assessed the greatest colour contrast, gamut, luminance and saturation on video; the most detailed, colour-balanced and sharpest images were obatined with digital photography (P < 0.02). TP-AMF retained spatial oversight, covered the entire area of interest and should be combined in different specimens with CE-HE which enables more refined muscle fibre reproduction. Digital photography is preferred for on-screen analysis. PMID:16050904