Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report.
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.
Yüce
M A
MA
Department of Obstetrics and Gynecology Trakya University, College of Medicine, Edirne, Turkey.
Yardim
T
T
Kurtul
M
M
Durukan
S
S
Gücer
F
F
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal