[Van der Woude syndrome (report of a case)].

گزارش یک مورد سندرم VAN DER WOUDE

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...

Chondroectodermal dysplasia (Ellis-Van Creveld syndrome: A case report

Ellis-Van Creveld syndrome is a very rare congenital disorder which its principal features are polysyndactyly, chondrodysplasia, cardiac abnormalities and ectodermal dysplasia. We report a 10-year-old girl with major manifestations of this syndrome who also had multiple brownish macules and patches on trunk and extremities with aortic and pulmonary stenosis in echocardiographic evaluations.

Congenital lip pits and van der Woude syndrome.

Van der Woude syndrome is an autosomal dominant disease characterized by lower lip pits with or without cleft lip and/or cleft palate. The lip pits commonly have salivary glands that drain into them, which leads to salivary flow from the lip pits. Lip pits may be associated with submucosal palatal cleft, velopharyngeal insufficiency, or genitourinary or cardiovascular anomalies. The pits are tr...