Congenital absence of the tibiae and thumbs with polydactyly. A rare genetic disease (Werner's syndrome).
Report of a male with bilateral aplasia of the tibiae and polydactyly. The autosomal dominant pattern of inheritance is emphasized through the study of this family and literature review.
D000328:Adult; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008297:Male; D013933:Thumb / Q000002:abnormalities*; D013977:Tibia / Q000002:abnormalities*; D014898:Werner Syndrome / Q000235:genetics*