All issues > Volume 27(12); 1984

Case Report

J Korean Pediatr Soc. 1984;27(12):1234-1238. Published online December 31, 1984.

A Case of Achondroplasia.

Han Young Lee¹, Seon Ock Khang¹, Woo Gill Lee¹

¹Department of Pediatrics, Hanyang University，College of Medicine，Seoul，Korea

Abstract

Achondroplasia, the commonest type of dwarfism, is an autosomal-dominant skeletal dysplasia in which the primary defect is endochondral bone formation. Characteristic clinical findings are large head size, rhizomelic shortening of the limbs, frontal bossing & flat nasal bridge with X-ray findings of brachycephaly, thickness of long bone, squared iliac bone and decreased interpediculate distance of spine at distal lumbar level compared with proximal. Authors experienced a case of achondroplasia with typical clinical X-ray findings and without the evidence of hydrocephalus on brain sector scan. A brief review of literatures was given on this subject.

Keywords :Achondroplasia.