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Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report
1Department of Obstetrics and Gynecology Trakya University, College of Medicine, Edirne, Turkey.
Clinical and Experimental Obstetrics & Gynecology
|February 13, 1999
Abstract:
Thanatophoric dwarfism is a lethal, rare osteochondrodysplasia and results from mutations on the fibroblast growth factor receptor 3 (FBGFR3) gene, on the short arm of chromosome 4. In this paper, we present a case of thanatophoric dwarfism diagnosed in the 18th pregnancy week.