Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report
Küçük Resim Yok
Tarih
1998
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Prenatal Diagnosis; Thanatophoric Dwarfism; Ultrasonography, Fibroblast 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, Prenatal
Kaynak
Clinical and Experimental Obstetrics and Gynecology
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
25
Sayı
4
