Two case of thanatophoric dysplasia type I / 대한주산의학회잡지
Korean Journal of Perinatology
;
: 75-79, 2008.
Article
in Korean
| WPRIM
| ID: wpr-117724
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Skull
/
Congenital Abnormalities
/
Thanatophoric Dysplasia
/
Thorax
/
Cardiovascular System
/
Ultrasonography, Prenatal
/
Parturition
/
Extremities
/
Kidney
/
Leg
Type of study:
Diagnostic study
Language:
Korean
Journal:
Korean Journal of Perinatology
Year:
2008
Type:
Article
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