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Case Report
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Korean J Obstet Gynecol. 2005;48(9):2217-2222. Published online September 1, 2005.
- A Case of the Type I Thanatophoric Dysplasia Diagnosed in the 2nd Trimester.
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Ju Young Lee, Sang Won Park, Ji Hyun Park, Min Jung Baek, Min Gyu Lee, Song A Song, Su Kyung Kang
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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.
Keywords :Prenatal ultrasound examination;Type I thanatophoric dysplasia