A Case of the Type I Thanatophoric Dysplasia Diagnosed in the 2nd Trimester.

Lee, Ju Young; Park, Sang Won; Park, Ji Hyun; Baek, Min Jung; Lee, Min Gyu; Song, Song A; Kang, Su Kyung

Case Report

Korean Journal of Obstetrics & Gynecology 2005;48(9):2217-2222.
Published online September 1, 2005.

A Case of the Type I Thanatophoric Dysplasia Diagnosed in the 2nd Trimester.

Ju Young Lee, Sang Won Park, Ji Hyun Park, Min Jung Baek, Min Gyu Lee, Song A Song, Su Kyung Kang

Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University Hospital, Seoul, Korea. sangwon65@hanmail.net

Abstract

Skeletal dysplasias, a heterogenous group of bone growth disorders including thanatophoric dysplasia can be detected by routine prenatal ultrasound examination. As it is difficult to make a specific diagnosis, prediction of prognosis is of importance for obstetric management. In order to specify diagnosis, radiological, pathological and molecular genetic examination are often required. Our report describes a case of the type I thanatophoric dysplasia diagnosed specifically and terminated in the 2nd trimester.

Key Words: Prenatal ultrasound examination, Type I thanatophoric dysplasia