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gargoylism <radiology> (Hurler disease) mucopolysaccharidosis (MPS) type I, autosomal recessive, dwarfism, kyphosis, long bones are short and thick, phalanges of hands: coarse texture, wide shafts, tapered proximal ends (especially metacarpals), hepatosplenomegaly, thick lips, large tongue, small teeth, J-shaped sella
(12 Dec 1998)
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