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Case Report
Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report
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Departments of Obstetrics and Gynecology Trakya University, College of Medicine, Edirne (Turkey)
Clin. Exp. Obstet. Gynecol. 1998, 25(4), 149–150;
Published: 10 December 1998
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 18’h pregnancy week.
Keywords
Thanatophoric dwarfism
Prenatal diagnosis
Ultrasonography