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Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital.
Afr J Paediatr Surg. 2014 Jan-Mar; 11(1):52-5.AJ

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.

Authors+Show Affiliations

No affiliation info availableDepartment of Oral and Maxillofacial Surgery, Faculty of Dental Sciences, College of Medicine, University of Lagos, Lagos, Nigeria.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural

Language

eng

PubMed ID

24647295

Citation

James, Olutayo, et al. "Van Der Woude Syndrome: a Review of 11 Cases Seen at the Lagos University Teaching Hospital." African Journal of Paediatric Surgery : AJPS, vol. 11, no. 1, 2014, pp. 52-5.
James O, Adeyemo WL, Emeka CI, et al. Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital. Afr J Paediatr Surg. 2014;11(1):52-5.
James, O., Adeyemo, W. L., Emeka, C. I., Ogunlewe, M. O., Ladeinde, A. L., & Butali, A. (2014). Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital. African Journal of Paediatric Surgery : AJPS, 11(1), 52-5. https://doi.org/10.4103/0189-6725.129235
James O, et al. Van Der Woude Syndrome: a Review of 11 Cases Seen at the Lagos University Teaching Hospital. Afr J Paediatr Surg. 2014 Jan-Mar;11(1):52-5. PubMed PMID: 24647295.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital. AU - James,Olutayo, AU - Adeyemo,Wasiu L, AU - Emeka,Christian I, AU - Ogunlewe,Mobolanle O, AU - Ladeinde,Akinola L, AU - Butali,Azeez, PY - 2014/3/21/entrez PY - 2014/3/22/pubmed PY - 2015/4/14/medline SP - 52 EP - 5 JF - African journal of paediatric surgery : AJPS JO - Afr J Paediatr Surg VL - 11 IS - 1 N2 - 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. SN - 0974-5998 UR - https://www.unboundmedicine.com/medline/citation/24647295/Van_der_Woude_syndrome:_a_review_of_11_cases_seen_at_the_Lagos_University_Teaching_Hospital_ L2 - http://www.afrjpaedsurg.org/article.asp?issn=0189-6725;year=2014;volume=11;issue=1;spage=52;epage=55;aulast=James DB - PRIME DP - Unbound Medicine ER -