Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies

Gelb et al. (1999) reported a 3-generation family with 7 affected individuals who had variable cardiovascular defects (patent ductus arteriosus (see 607411), bicuspid aortic valve, and pseudocoarctation of the aorta) and hand anomalies, including fifth metacarpal hypoplasia and brachydactyly. Inheritance was consistent with autosomal dominance, although X-linked dominance could not be excluded. Given the similarity between this syndrome and Char syndrome (169100), the authors performed linkage analysis using DNA markers spanning the Char syndrome critical region at 6p21.1-p12. This analysis excluded the possibility that the family was inheriting an allelic variant of Char syndrome. Gelb et al. (1999) concluded that this is a novel heart-hand syndrome.