All issues > Volume 33(11); 1990

Original Article

J Korean Pediatr Soc. 1990;33(11):1593-1597. Published online November 30, 1990.

A Case of Thanatophoric Dysplasia.

Eun Sil Kim¹, Hyun Joo Choi¹, Mi Ran Park¹, Jae Yun Kim¹, In Sang Jeon¹, Kwang Jeon Kim¹, Bum Woo Yum²

¹Department of Pediatrics, Chung Gu Sung Sim Hospital, Seoul, Korea
²Department of Pathology, College of Medicin公，Korea University, Seoul, Korea

Received: June 29, 1990;  Accepted: August 18, 1990.

Abstract

Thanatophoric dysplasia is a short limb dwarf condition in which respiratory distress is responsible for death in the first hours or days after birth. We experienced a case of thanatophoric dysplasia who presented striking disproportion of trunk and extremities. The head was relatively large, the trunk was narrow and normal length, and the extremities were markedly shortened. The radiologic feature of this dysplasia was characteristic. And this helped to differentiate it from the other short limb dwarf conditions. We report a case of thanatophoric dysplasia with a brief review of literatures.

Keywords :Thanatophoric dysplasia, fatal neonatal dwarfism