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Case Report
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Korean J Obstet Gynecol. 1997;40(6):1281-1285. Published online January 1, 2001.
- A Case of Thanatophoric Dwarfism.
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C S Lee, B G Jang, J H Lee, M S Rho, I C Song
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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.
Keywords :Thanatophoric dwarfism
