Two case of thanatophoric dysplasia type I.
- Author:
Ui Yoon CHOI
1
;
Jung Hyun LEE
;
Jung Soo LEE
Author Information
1. Department of Pediatrics, College of Medicine, The Catholic University, Seoul, Korea. ljhped@catholic.ac.kr
- Publication Type:Case Report
- Keywords:
Thanatophoric dysplasia;
Prenatal ultrasonography
- MeSH:
Cardiovascular System;
Congenital Abnormalities;
Extremities;
Kidney;
Leg;
Lung;
Parturition;
Skull;
Thanatophoric Dysplasia;
Thorax;
Ultrasonography, Prenatal
- From:Korean Journal of Perinatology
2008;19(1):75-79
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Thanatophoric dysplasia (TD) is a lethal inherited skeletal disorder characterized by extremely short limbs, narrow chest, skull deformity and underdeveloped lungs. TD is divided into two types, depending primarily upon whether the bone in the upper leg (the femur) is curved or straight. We experienced two case of TD type I that were confirmed by clinical and radiological features after birth. Unlike previously reported cases of TD in our country, the multiple anomalies of CNS, kidney and cardiovascular system were identified in one of these cases.
