title: Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report.
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.
authors.affiliation: Department of Obstetrics and Gynecology Trakya University, College of Medicine, Edirne, Turkey.
authors.forename: M A
authors.initials: MA
authors.lastname: Yüce
authors.forename: T
authors.initials: T
authors.lastname: Yardim
authors.forename: M
authors.initials: M
authors.lastname: Kurtul
authors.forename: S
authors.initials: S
authors.lastname: Durukan
authors.forename: F
authors.initials: F
authors.lastname: Gücer
mesh_terms: 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