Journal article
Van der Woude syndrome: A review of 11 cases seen at the Lagos University Teaching Hospital
African journal of paediatric surgery, Vol.11(1), pp.52-55
02/01/2014
DOI: 10.4103/0189-6725.129235
PMCID: PMC4066459
PMID: 24647295
Abstract
Background: Van der Woude syndrome (VWS), an autosomal dominant condition associated with clefts of the lip and/or palate and lower lip pits and is caused by mutations in interferon regulatory factor six gene. It is reported to be the most common syndromic cleft world-wide. Non-penetrance for the lip pit phenotype is found in at least 10% of affected individuals and those without the pits are phenocopies for non-syndromic clefting. The aim of this study is to present the phenotypic characteristic of VWS seen at the Lagos University Teaching Hospital (LUTH) cleft clinic. Materials and Methods: A review of cases of patients with VWS that attended the cleft lip and palate clinic at the LUTH Idi-Araba, Lagos, from January 2007 to December 2012 was conducted. Data analyses included sex of affected patients, types of cleft, presence of lower lip pits and history of lower lip pits/cleft in the family. Results: A total of 11 cases were seen during the period (male = 4; female = 7). Age at presentation ranged between 1 week and 12 years, with majority (n = 10) less than 2 years of age. Bilateral cleft lip and palate (BCLP) was seen in six patients, isolated soft palatal cleft (n = 3) and unilateral cleft lip and alveolus (n = 1) and cleft of hard and soft palate (n = 1). Bilateral lower lips were presented in 10 out of the 11 cases. The mother of the only patient without lip pits presented with bilateral lower lip pits. No family history of cleft/lip pits was elicited in 10 other cases. Conclusion: Most of the cases of VWS presented with BCLP and lower lip pits. Non-penetrance for the lip pits was seen in one out of 11 cases. Our study emphasizes the need to screen family members in all cleft cases, especially clinically diagnosed non-syndromic cases who may be VWS with no lip pits. Future studies are required to investigate the genetic causes of this syndrome in our population.
Details
- Title: Subtitle
- Van der Woude syndrome: A review of 11 cases seen at the Lagos University Teaching Hospital
- Creators
- Olutayo James - Department of Oral and Maxillofacial Surgery, Faculty of Dental Sciences, College of Medicine, University of Lagos, LagosWasiu Adeyemo - Department of Oral and Maxillofacial Surgery, Faculty of Dental Sciences, College of Medicine, Lagos University Teaching Hospital, LagosChristian Emeka - Department of Oral and Maxillofacial Surgery, Faculty of Dental Sciences, College of Medicine, Lagos University Teaching Hospital, LagosMobolanle Ogunlewe - Department of Oral and Maxillofacial Surgery, Faculty of Dental Sciences, College of Medicine, Lagos University Teaching Hospital, LagosAkinola Ladeinde - Department of Oral and Maxillofacial Surgery, Faculty of Dental Sciences, College of Medicine, Lagos University Teaching Hospital, LagosAzeez Butali - Department of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa
- Resource Type
- Journal article
- Publication Details
- African journal of paediatric surgery, Vol.11(1), pp.52-55
- DOI
- 10.4103/0189-6725.129235
- PMID
- 24647295
- PMCID
- PMC4066459
- NLM abbreviation
- Afr J Paediatr Surg
- ISSN
- 0189-6725
- eISSN
- 0974-5998
- Publisher
- Medknow Publications
- Language
- English
- Date published
- 02/01/2014
- Academic Unit
- Oral Pathology, Radiology and Medicine; Stead Family Department of Pediatrics; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984065991302771
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