Korean J Obstet Gynecol.
2005 Sep;48(9):2217-2222.
A Case of the Type I Thanatophoric Dysplasia Diagnosed in the 2nd Trimester
- Affiliations
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- 1Department 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.
