A Case of the Type I Thanatophoric Dysplasia Diagnosed in the 2nd Trimester.
- Author:
Ju Young LEE
1
;
Sang Won PARK
;
Ji Hyun PARK
;
Min Jung BAEK
;
Min Gyu LEE
;
Song A SONG
;
Su Kyung KANG
Author Information
1. Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University Hospital, Seoul, Korea. sangwon65@hanmail.net
- Publication Type:Case Report
- Keywords:
Prenatal ultrasound examination;
Type I thanatophoric dysplasia
- MeSH:
Bone Development;
Diagnosis;
Molecular Biology;
Prognosis;
Thanatophoric Dysplasia*;
Ultrasonography
- From:Korean Journal of Obstetrics and Gynecology
2005;48(9):2217-2222
- CountryRepublic of Korea
- Language:Korean
-
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.
