All issues > Volume 27(5); 1984

Case Report

J Korean Pediatr Soc. 1984;27(5):521-526. Published online May 31, 1984.

A Case of Thanatophoric Dysplasia.

Hae Sook Cha¹, Hyun Hwa Kim¹, Young Hee You¹, Hyun Sook Lee¹, Jeong Rae Kim²

¹Department of Pediatrics, Veterans Hospital Korea
²Department of Pathology, Veterans Hospitalt Korea

Abstract

A case of thanatophoric dysplasia was presented with a brief review of literature. The baby showed characteristic clinical feature with relatively large head, prominent forehead, flattening of the bridge of the nose and extremly short arm and legs. X-ray showed marked shortening of rib, narrow chest, flattened vertebral body within lumbar region, rectangular shape of pelvic bone, prominent softtissue of abdomen and disproportionately short arm and legs. The diagnosis was confirmed by clinical features, radiological and histological findings.

Keywords :Thanatophoric dysplasia;Clinical; Radiological; Histological findings