Congenital clasped thumb combined with Waardenburg syndrome in three generations of one family: an undescribed congenital anomalies complex.
Four cases of congenital clasped thumb with Waardenburg syndrome in three generations of one family (three males and one female) are presented. The combination of these congenital anomalies has not been reported previously in the literature and appears to be transmitted as an autosomal dominant trait with variable expressivity.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D013933:Thumb / Q000002:abnormalities* / Q000601:surgery; D014849:Waardenburg Syndrome / Q000235:genetics* / Q000601:surgery