Acromesomelic dwarfism in a child with an interesting family history.
Acromesomelic dwarfism is a rare skeletal disorder characterized by recessive autosomal transmission. A case is described in a boy 2 1/2 years old whose relatives (in a large number) showed a peculiar aspect of the upper extremities, and whose two grandparents were second cousins. Early diagnosis is important because it makes it possible to advise the parents with regard to the infant's prospects and the genetic implication.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D001132:Arm / Q000002:abnormalities*; D002675:Child, Preschool; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics*; D004480:Ectromelia / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007866:Leg / Q000002:abnormalities*; D008297:Male; D011859:Radiography