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

نویسندگان

  • A Schinzel
  • M Kläusler
چکیده

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 Further important contributions came from Cervenka et al,4 who presented 66 personally observed cases and reviewed some 450 others, and Rintala and Ranta,' who studied the incidence among cleft cases from the Finnish malformation registry. Finally, Burdick et a16 performed a genetic analysis of 864 cases.

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Cleft lip and palate, lower lip pits, and limb deficiency defects.

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Van Der Woude Syndrome

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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...

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Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.

Congenital pits of the lower lip constitute a rare developmental malformation, transmitted by an autosomal dominant mode, with considerable heterogeneity as regards the expression of the disorder. They are present in van der Woude syndrome (VWS), in which clefts of the upper lip and/or palate are often observed. Literature related to the various parameters associated with and relevant to the di...

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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...

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عنوان ژورنال:
  • Journal of medical genetics

دوره 23 4  شماره 

صفحات  -

تاریخ انتشار 1986