The Ewha Medical Journal
Ewha Womans University School of Medicine
Case Report
Prenatal Sonographic Diagnosis of Thanatophoric Dwarfism
Seung Cheol Kim, Kyung Soon Lee, Young Ju Kim, Hye Won Chung, Jung Ja Ahn
Published Online: Jul 24, 2015
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.