A case of prenatally diagnosed thanatophoric dysplasia type I using 3D multislice view.
- Author:
Min Kyung LEE
1
;
Soon Auck HONG
;
Gwang Jun KIM
Author Information
1. Department of Obstetrics and Gynecology, College of Medicine, Chung-Ang University, Seoul, Korea. gjkim@cau.ac.kr
- Publication Type:Case Report
- Keywords:
Thanatophoric dysplasia;
3D multislice view;
Prenatal
- MeSH:
Diagnosis;
Pregnancy;
Thanatophoric Dysplasia*;
Ultrasonography
- From:Korean Journal of Obstetrics and Gynecology
2007;50(9):1270-1275
- CountryRepublic of Korea
- Language:Korean
-
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.
