All issues > Volume 26(9); 1983

Case Report

J Korean Pediatr Soc. 1983;26(9):922-927. Published online September 30, 1983.

A Case of Thanatophoric Dwarfism.

Hae Seong Lee¹, Wha Young Chung¹, Eung Sang Choi¹, Tae Sub Shim¹

¹Department of Pediatrics, College of Medicine, Chung Ang university, Seoul, Korea

Abstract

Thanatophoric dwarfism is a lethal congenital chondrodystrophy characterized by diminished vertebral body height, a narrow thorax, and micromelia. This report presents the clinical, radiographic and autopsy findings of an experienced case of thanatophoric dwarfism detected prenatally by radiologic examination and discusses the differentiation of this disorder from other forms of congenital short limbed dwarfism.

Keywords :Thanatophoric dwarfism; Congenital chondrodystrophy.