All issues > Volume 38(7); 1995

Case Report

J Korean Pediatr Soc. 1995;38(7):1000-1005. Published online July 15, 1995.

A Case of the Non-rhizomelic Chondrodysplasia Punctata

Son Ill SI Jin¹, Kyung Rye KR Moon¹, Sang Kee SK Park¹, Young Bong YB Park¹, Young Suk YS Kim¹

¹Department of Pediatrics, Chosun University Medical College, Kwang-ju, Korea

Abstract

Chondrodysplasia punctata is a rare congenital disorder of bone, which is characterized by radiographic manifestation of punctate calcification in epiphyseal areas, preformed in cartilage. We experienced a case of the non-rhizomelic chondrodysplasia punctata in a male neonate who showed cataract, saddle nose, stippled calcification on X-ray without coronal cleft of verte-brae and rhizomelia.

Keywords :Chondrodysplasia Punctata, Non-rhizomelic type