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Original Article

A Case of Chondrodysplasia Punctata of the Rhizomelic Type.

Ki Sik Min, Bo Kyung Cho, In Kyung Sung, Byung Churl Lee

Clin Exp Pediatr. 1989;32(1):87-91. Published online January 31, 1989

Chondrodysplasia punctata is a rare familial disorder of bone, characterized by punctate calcifica- tion in the epiphyseal regions. We experienced a case of the rhizomelic type of chondrodysplasia punctata in an one day old female. She had symmetrical shortening of the proximal limbs, flexion contracture of both hip joints, cataracts and ichthyotic skin lesion. Radiologic findings showed multiple stippled calcified densities in most joints and...

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