A Case of Thanatophoric Dysplasia Type II Prenatally Diagnosed at 20 Gestational Weeks.

Kim, Jong Seok; Park, Man Chul

Case Report

Korean Journal of Obstetrics & Gynecology 2006;49(4):915-920.
Published online April 1, 2006.

A Case of Thanatophoric Dysplasia Type II Prenatally Diagnosed at 20 Gestational Weeks.

Jong Seok Kim, Man Chul Park

Department of Obstetrics and Gynecology, College of Medicine, Dankook University, Chonan, Korea. parkmanc@hanmail.net

Abstract

Thanatophoric dysplasia is a lethal skeletal dysplasia due to the dysfunction of endochondral ossification characterized by short limbs, narrow chest, micromelia, cranial dysplasia. Tavormina described in 1995 that the dysfunction of endochondral ossification is due to the missence mutation of the gene presenting the Fibrblast Growth Factor Receptor 3. Thanatophoric dysplasia is classified as two types. The type I is characterized by the curved short limbs and severe platyspondyly, and the type II by the kleeblattschadel (cloverleaf deformity) and straight short limbs. Both are destined to the death a few days after the delivery due to the pulmonary hypoplasia from the hypoplastic thorax. We experienced a case of thanatophoric dysplasia on antenatal ultrasound examination and then pregnancy was terminated by vaginal delivery. Now, with the review of literature, we report the case of thanatophoric dysplasia confirmed by clinical features and radiological finding.

Key Words: Thanatophoric dysplasia, Micromelia, Kleeblattschadel