Acromesomelic dwarfism: description of a patient and comparison with previously reported cases.
A woman is described who has a severe bone dysplasia confined to the limbs. The degree of involvement is more marked in the distal bones. Her forearms and legs are short; the fibulae are represented by distal triangular remnants; the metacarpals are short, several phalanges in the fingers are absent; and the toes are represented by "ball-like" remnants containing a single bone. The findings in our patient are compared to previously reported cases of acromesomelic dwarfism.
D000328:Adult; D004392:Dwarfism / Q000000981:diagnostic imaging; D005121:Extremities / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital; D011859:Radiography