Linkage studies in a pedigree with Van der Woude syndrome.

گزارش یک مورد سندرم VAN DER WOUDE

Van der Woude Syndrome Associated with Hypodontia: A Rare Clinical Entity

Van der Woude syndrome (VWS) is usually underreported and frequently not diagnosed. The phenomenon that cleft lip and palate are regularly combined in the same pedigree makes it unique. A meticulous examination of a patient with lip pits may reveal a hidden form of a cleft, for example, submucous. This paper presents a case of VWS in a ten-year-old boy with characteristic orofacial features. Sp...

Molecular Genetics of Non-syndromic Cleft Palate and Van Derwoude Syndrome

(2001) Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome. (2001) Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. (2003) Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. (2003) Linkage and linkage disequilibrium searched between non-syndromic cleft ...

Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32.

Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder, thought to occur with an incidence of approximately 1 in 300 000 live births. The main clinical manifestations are popliteal webbing, cleft lip, cleft palate, lower lip pits, syndactyly, and genital and nail anomalies. This report describes the clinical features in two families with PPS and one isolated case, showing the ...

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...