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Kim, Lee, Kim, Chung, and Ahn: Prenatal Sonographic Diagnosis of Thanatophoric Dwarfism
Case Report

The Ewha Medical Journal 1994; 17(2): 167-172.

Published online: 24 July 2015

DOI: https://doi.org/10.12771/emj.1994.17.2.167

Prenatal Sonographic Diagnosis of Thanatophoric Dwarfism

Seung Cheol Kim, Kyung Soon Lee, Young Ju Kim, Hye Won Chung, Jung Ja Ahn

Department of Obstetrics and Gynecology, College of Medicine, Ewha Womans University, Korea.

Copyright © 1994. Ewha Womans University School of Medicine

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Thanatophoric dwarfism is a short limb dwarf condition which usually results in death shortly after birth. It has been confused with achondroplastic and another congenital short limb dwarf condition. We now report a case of thanatophoric dwarfism in a 29-year-old woman, based on prenatal sonographic, radiological and autopsy findings with a review of literatures.

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