Yüce M.A.Yardim T.Kurtul M.Durukan S.Gücer F.2024-06-122024-06-1219980390-6663https://hdl.handle.net/20.500.14551/17089Thanatophoric 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.eninfo:eu-repo/semantics/closedAccessPrenatal Diagnosis; Thanatophoric Dwarfism; UltrasonographyFibroblast Growth Factor Receptor; Adult; Article; Case Report; Chromosome 4; Chromosome Analysis; Echography; Female; Human; Prenatal Diagnosis; Second Trimester Pregnancy; Thanatophoric Dwarfism; Adult; Diagnosis, Differential; Female; Fetal Diseases; Humans; Pregnancy; Pregnancy Trimester, Second; Thanatophoric Dysplasia; Ultrasonography, PrenatalArticle2541491502-s2.0-00324165759987576Q4