Korean J Perinatol.
2008 Mar;19(1):75-79.
Two case of thanatophoric dysplasia type I
- Affiliations
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- 1Department of Pediatrics, College of Medicine, The Catholic University, Seoul, Korea. ljhped@catholic.ac.kr
- 2Department of Rehabilitation Medicine, College of Medicine, The Catholic University, Seoul, Korea.
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.
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