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A Case of Chondrodysplasia Punctata of the Rhizomelic Type.

Journal of the Korean Pediatric Society 1989;32(1):87-91.
Published online January 31, 1989.
A Case of Chondrodysplasia Punctata of the Rhizomelic Type.
Ki Sik Min, Bo Kyung Cho, In Kyung Sung, Byung Churl Lee
Department of Pediatrics, Catholic University Medical College, Seoul, Korea
Chondrodysplasia Punctata (Rhizomelic 형 ) 1 례
민기식, 조보경, 성인경, 이병철
가톨릭의대 소아과학교실
Received: 10 May 1988   • Accepted: 21 July 1988
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 vertebral bodies, and characteristic coronal clefts in deformed lumbar vertebral bodies A brief review of literatures was presented.
Key Words: Chondrodysplasia punctata, rhizomelic type

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