Korean J Obstet Gynecol.
1997 Jun;40(6):1281-1285.
A Case of Thanatophoric Dwarfism
- Affiliations
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- 1Department of Obstetrics and Gynecology, Pusan Medical Center, Dong AMedical Center, Pusan, Korea.
- 2Department of Pathology, Dong AMedical Center, Pusan, Korea.
Abstract
- Thanatophoric dwarfism is the term applied to a distinctive, lethal form of bone dysplasiadescribed by Maroteaux, Lamy and Robert in 1967.It is a severe neonatal short-limbs dwarfism with characteristic X-ray features, includingvertebral and pelvic abnormalities, and a narrow thorax with short cupped ribs andirregular metaphyses.We experienced a case of fetal dwarfisms on antenatal ultrasound examination andthen the baby was delivered by cesarean section. The diagnosis was confirmed to thanatophoricdwarfism by clinical features, radiological finding and autopsy.We reported a case of thanatophoric dwarfism with review of literature.
