Bilateral aplasia of the tibia, polydactyly and absent thumb in father and daughter.
D001848:Bone Diseases, Developmental / Q000235:genetics*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005532:Foot Deformities, Congenital; D005799:Genes, Dominant; D006227:Hand Deformities, Acquired; D006801:Humans; D008297:Male; D013933:Thumb / Q000002:abnormalities*; D013977:Tibia / Q000002:abnormalities*