Radial ray aplasia and renal anomalies in father and son: a new syndrome.
We describe a father and his son with bilateral absence of radius and thumb. Both have short stature, external ear malformation, and renal anomaly. In the son a high frequency of chromosome breaks in lymphocytes was found. We compare this familial syndrome to Fanconi anemia and other radial ray aplasia syndromes and conclude that we are dealing with a different entity, which apparently is inherited as a dominant trait.
D000328:Adult; D001827:Body Height; D002675:Child, Preschool; D002869:Chromosome Aberrations; D004431:Ear, External / Q000002:abnormalities; D005799:Genes, Dominant; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*