All issues > Volume 32(11); 1989

Original Article

J Korean Pediatr Soc. 1989;32(11):1598-1602. Published online November 30, 1989.

A case of thanatophoric dysplasia.

H J Kwon¹, E K Won¹, J S Min¹, C H Choi¹

¹Department of Pediatrics, Seoul Adventist Hospital, Seoul, Korea

Received: March 23, 1989;  Accepted: July 18, 1989.

Abstract

Thanatophric dysplasia have a prominent forehead, depressed nasal bridge, and bulging eyes. The limbs are extremly short and held extended from the body. The chest is small and pear-shaped. Affected infants are hypotonic and lack primitive reflexes. Most affected infants are still born or die within hours of birth. Two cases of thanatophoric dysplasia are presented with gidelines for diagno- sis. A review of the literature is made.

Keywords :Thanatophoric dysplasia