A case of prenatally diagnosed thanatophoric dysplasia type I using 3D multislice view.

Lee, Min Kyung; Hong, Soon Auck; Kim, Gwang Jun

Case Report

Korean Journal of Obstetrics & Gynecology 2007;50(9):1270-1275.
Published online September 1, 2007.

A case of prenatally diagnosed thanatophoric dysplasia type I using 3D multislice view.

Min Kyung Lee, Soon Auck Hong, Gwang Jun Kim

¹Department of Obstetrics and Gynecology, College of Medicine, Chung-Ang University, Seoul, Korea. gjkim@cau.ac.kr
²Department of Pathology, College of Medicine, Chung-Ang University, Seoul, Korea.

Abstract

Lethal skeletal dysplasia can be suspected at relatively early pregnancy by ultrasonography, but the final diagnosis is difficult to make. Genetic, histopathologic and radiologic examinations are needed for the diagnosis. The most common lethal skeletal dysplasia is thanatophoric dysplasia (TD) and which can be subdivided into two types according to its clinical features. Advances in prenatal ultrasound techniques, especially 3D multislice scan technique enable to get adequate plans to diagnose TD. We report one case of thanatophoric dysplasia type I diagnosed by new 3D multislice view technique and confirmed by histopathologic, genetic, radiologic examination after termination at 20 weeks of gestation.

Key Words: Thanatophoric dysplasia, 3D multislice view, Prenatal