Van der Woude syndrome in twins.

گزارش یک مورد سندرم VAN DER WOUDE

The Van der Woude syndrome (dominantly inherited lip pits and clefts).

A patient with symmetrical lower lip pits with or without cleft lip or palate is most likely to be the carrier of a dominant gene that causes the syndrome of lip pits and clefts or Van der Woude syndrome. Familial occurrence of lower lip pits and clefts was first described by Demarquay in 1845.1 Watanabe et a12 reviewed some 100 cases in 1951, and Van der Woude delineated the syndrome in 1954.3...

Concurrent Van der Woude syndrome and Turner syndrome: A case report

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 yea...

Van der Woude syndrome- a syndromic form of orofacial clefting

Van der Woude Syndrome is the most common form of syndromic orofacial clefting, accounting for 2% of all cases, and has the phenotype that most closely resembles the more common non-syndromic forms. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with cardinal clinical features of lip pits with a cleft lip, cleft palate, or bo...

Van der woude syndrome. Cardinal signs, epidemiology, associated features, differential diagnosis and treatment: a review

The Van der Woude syndrome (VWS), is a rare autosomal dominant disease due to a genetic mutation. The cardinal sign of this syndrome are labial fistulas. It is often associated with cleft lip, labial and palate. Cleft lip in 66.2% of cases, labial in 16,5% of cases and palatal in 17.3% of cases. The treatment of fistula is exclusively for aesthetic reasons, so the main treatment is that of lip ...