All issues > Volume 32(1); 1989

Original Article

J Korean Pediatr Soc. 1989;32(1):87-91. Published online January 31, 1989.

A Case of Chondrodysplasia Punctata of the Rhizomelic Type.

Ki Sik Min¹, Bo Kyung Cho¹, In Kyung Sung¹, Byung Churl Lee¹

¹Department of Pediatrics, Catholic University Medical College, Seoul, Korea

Received: May 10, 1988;  Accepted: July 21, 1988.

Abstract

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.

Keywords :Chondrodysplasia punctata, rhizomelic type