Oral Clefts with Associated Anomalies: Findings in the Hungarian Congenital Abnormality Registry

BACKGROUND: Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data of cases with syndromic orofacial clefts from large population-based studies are infrequent. METHODS: Clinically recognized and notified syndromes and associations including cleft lip with or without cleft palate and other congenital anomalies were selected from the Hungarian Congenital Abnormality Registry (HCAR) between 1973 and 1982 and prevalence rates were calculated. RESULTS: Of 3,110 cases reported as having orofacial clefts, 653 had multiple congenital abnormalities. Of these, 60 (9.2%) had a known etiology (monogenic: 25 or 3.8%, chromosomal: 31 or 4.7%, teratogenic: 4 or 0.6%). Seventy-three subjects (11.2%) had schisis in addition to the oral cleft. Skeletal anomalies were the most common malformations among cases with cleft lip with/without cleft palate (CL/P) and cleft palate (CP). Disorders of the central nervous system and cardiovascular malformations were also frequently associated. CONCLUSION: Surveillance systems, such as the HCAR, provide useful information about prevalence rates of congenital anomalies in a population. However, in a field where new syndromes are being discovered and classifications regularly updated, these rates should only be accepted as provisional.Massachusetts Center for Birth Defects Research and Prevention of the Massachusetts Department of Public Health; Peer Foundation/Cleft Palate Foundation Etiology Gran

An update on the aetiology of orofacial clefts

Objective. To review recent data on the aetiology of cleft lip and palate. Data sources. MEDLINE literature search (1986-2003). Study selection. Literature and data on aetiology of cleft lip and palate using the following key words: 'cleft lip', 'cleft palate', 'aetiology', and 'genetics'. Data extraction. Relevant information and data were reviewed by the authors. Data synthesis. Cleft lip and palate is one of the most common types of congenital malformation. The aetiology seems complex, but genetics plays a major role. Recently several genes causing syndromic cleft lip and palate have been discovered. Three of them-namely 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's and popliteal pterygium syndromes, respectively; they are also implied in non-syndromic cleft lip and palate. The nature and function of these genes vary widely, illustrating high vulnerability within the craniofacial developmental pathways. The aetiological complexity of non-syndromic cleft lip and palate is also exemplified by the large number of candidate genes and loci. Conclusions. The aetiology of non-syndromic cleft lip and palate is still largely unknown, but mutations in candidate genes have already been identified in a small proportion of cases of non-syndromic cleft lip and palate. Determining the relative risk of cleft lip and palate, on the basis of genetic background and environmental influence, including smoking, alcohol use, and dietary factors, will aid in genetic counselling and the development of future preventive measures.published_or_final_versio

Retrospective longitudinal analysis of phonetic and phonological cleft palate speech characteristics

In this study, we analysed phonetic and phonological consonant characteristics of cleft palate speech (CPS) at ages 5 and 10 in cleft palate with/without cleft lip (CP±CL) based on Cleft Audit Protocol for Speech – Augmented (CAPS-A) data collected in the Dental Hospital in Glasgow. The nature and extent of CPS characteristics at different ages were investigated. Video-recordings of 42 cleft palate (CP), unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP) boys and girls were analysed based on narrow transcription and automatic PROPH (profile of phonology) of types of articulation features. Results of this study showed that CP±CL children produce a significantly higher number of phonetic CPS characteristics than phonological processes at both ages

Standing on the Shoulders of Giants: The Cleft Palate-Craniofacial Journal (1964-1989)Electronic Archive

Current research and clinical practice in cleft palate and craniofacial disorders “stands on the shoulders of giants” who came before us. To enable thirty years of seminal research articles to become digitally available to a worldwide community of students, scholars, and clinicians, a collaboration was forged in 2004 between University of Pittsburgh’s Digital Research Library (DRL) and ACPA, (with the agreement of Allen Press), to create an electronic archive of the first thirty years of the Cleft Palate Craniofacial Journal . The work was performed pro bono, by all parties

Dental Implant Treatment for a Patient with Bilateral Cleft Lip and Palate

Dental reconstruction in the cleft space is difficult in some patients with cleft lip and palate because of oronasal fistulas. Most of these patients receive a particle cancellous bone marrow (PCBM) graft to close the alveolar cleft, and secondary bone grafting is also required. Treatment options for the alveolar cleft including fixed or removable prostheses require the preparation of healthy teeth and are associated with functional or social difficulties. Recently, the effectiveness of dental implant treatment for cleft lip and palate patients has been reported. However, there have been few reports on the use of this treatment in bilateral cleft lip and palate patients. We report the case of a patient who had bilateral cleft lip and palate and was missing both lateral incisors. She received dental implant treatment after a PCBM graft and ramus bone onlay grafting (RBOG). A 34-month postoperative course was uneventful.</p

Success and Failure for Children Born with Facial Clefts in Africa: A 15-Year Follow-up

Background: This study reviews the 15year program of our Department of Pediatric Surgery for the treatment and follow-up of children born with a cleft in Benin and Togo. Methods: We analyzed files of children born in Africa with a cleft. They were referred to us through a nongovernmental organization (NGO) between 1993 and 2008 and assessed in Africa by local pediatricians before and after surgery. Operations were performed by our team. Results: Two hundred files were reviewed: 60 cases of unilateral cleft lip, seven of bilateral cleft lip, 44 of unilateral cleft lip palate (UCLP), 29 of bilateral cleft lip palate (BCLP), 53 of cleft palate (CP), three of bilateral oro-ocular cleft, one of unilateral and two of median clefts (Binder), and one of commissural cleft. Sixty-nine (35%) of these cases were not operated in Africa: 25 (12.5%) had not shown up, 28 (15%) were considered unfit for surgery (Down's syndrome, HIV-positive, malnutrition, cardiac malformation), and 16 (7.5%) were transferred to Switzerland. Palatal fistula occurred in 20% of UCLP, 30% of BCLP, and 16% of CP. Evaluation of speech after palate surgery gave less than 50% of socially acceptable speech. Conclusions: Our partnership with a NGO and a local team makes it possible to treat and subsequently follow children born with a cleft in West Africa. Surgery is performed under good conditions. If aesthetic results are a success, functional results after palate surgery need further improvement to promote integration in school and social lif

A cleft care workshop for speech and language pathologists in resource-limited countries : the participants' experiences about cleft care in Uganda and satisfaction with the training effect

Objectives: workshops and specialized training programs are often inaccessible for speech and language pathologists (SLPs) based in resource-limited countries given the lack of supply, the long travel distances and the excessive participation fees. To stimulate life-long learning opportunities for all, this study described and measured the effect of a free, two-day cleft care workshop for SLPs in Uganda. The workshop included different topics related to the assessment and treatment of children with a cleft of the palate with or without a cleft of the lip (CP +/- L). Methods: The participants who presented during the two-day course were asked to complete a pre- and postworkshop questionnaire to evaluate their satisfaction. The pre-workshop form also included some questions concerning cleft care in Uganda. Both the pre- and post-workshop forms included three visual analogue scales to investigate the evolution of the participants' estimation of their knowledge regarding speech in patients with a CP +/- L and to assess the changes in their self-confidence in the diagnosis and treatment of this population. Results: seventeen SLPs completed the pre- and post-workshop questionnaires. In general, the participants were highly satisfied with the different themes covered in the program. After the training course, the participants rated their general knowledge about CP +/- L and their self-confidence in the diagnosis and treatment of children with a CP +/- L significantly higher than before the workshop. Conclusion: the vast majority of the SLPs reported that cleft care was not easily accessible in Uganda. The most commonly reported obstacle for cleft care was a lack of knowledge about this matter in the SLPs themselves highlighting the importance of the organization of additional education opportunities. The participants reported a significantly higher level of self-confidence in diagnosing and treating children with a CP +/- L after the workshop. The content of this workshop can form the basis for future learning opportunities for SLPs based in resource-limited countries

Maternal risk factors for oral clefts: A case-control study

Introduction: A cleft lip with or without a cleft palate is one of the major congenital anomalies observed in newborns. This study explored the risk factors for oral clefts in Gorgan, Northern Iran. Materials and Methods: This hospital-based case-control study was performed in three hospitals in Gorgan, Northern Iran between April 2006 and December 2009. The case group contained 33 newborns with oral clefts and the control group contained 63 healthy newborns. Clinical and demographic factors, including date of birth, gender of the newborns, type of oral cleft, consanguinity of the parents, parental ethnicity, and the mother's parity, age, education and intake of folic acid were recorded for analysis. Results: A significant association was found between parity higher than 2 and the risk of an oral cleft (OR= 3.33, CI 95% [1.20, 9.19], P> 0.02). According to ethnicity, the odds ratio for oral clefts was 0.87 in Turkmens compared with Sistani people (CI 95% [0.25, 2.96]) and 1.11 in native Fars people compared with Sistani people (CI 95% [0.38, 3.20]). A lack of folic acid consumption was associated with an increased risk of oral clefts but this was not statistically significant (OR = 1.42, CI 95% [0.58, 3.49]). There were no significant associations between sex (OR boy/girl = 0.96, CI 95% [0.41, 2.23]), parent familial relations (OR = 1.07, CI 95% [0.43, 2.63]), mother's age and oral clefts. Conclusions: The results of this study indicate that higher parity is significantly associated with an increased risk of an oral cleft, while Fars ethnicity and a low intake of folic acid increased the incidence of oral clefts but not significantly

A study of the attitudes of mothers toward children born with a cleft palate

Thesis (M.S.)--Boston Universit

Three-dimensional cephalometric evaluation of maxillary growth following in utero repair of cleft lip and alveolar-like defects in the mid-gestational sheep model

Objective: To evaluate maxillary growth following in utero repair of surgically created cleft lip and alveolar (CLA)-like defects by means of three-dimensional (3D) computer tomographic (CT) cephalometric analysis in the mid-gestational sheep model. Methods: In 12 sheep fetuses a unilateral CLA-like defect was created in utero (untreated control group: 4 fetuses). Four different bone grafts were used for the alveolar defect closure. After euthanasia, CT scans of the skulls of the fetuses, 3D re-constructions, and a 3D-CT cephalometric analysis were performed. Results: The comparisons between the operated and nonoperated skull sides as well as of the maxillary asymmetry among the experimental groups revealed no statistically significant differences of the 12 variables used. Conclusions: None of the surgical approaches used for the in utero correction of CLA-like defects seem to affect significantly postsurgical maxillary growth; however, when bone graft healing takes place, a tendency for almost normal maxillary growth can be observed. Copyright (c) 2006 S. Karger AG, Basel