title: Achondrogenesis type I diagnosed by transvaginal ultrasonography at 13 weeks' gestation.
abstract: We present the first transvaginal first-trimester diagnosis of achondrogenesis type I confirmed by radiographic and histologic studies. The ultrasonographic signs included severe short limb mesomelic dwarfism, large head with decreased ossification, and lack of vertebral ossification.
authors.affiliation: Department of Obstetrics and Gynecology, Soroka Medical Center, Beer-Sheva, Israel.
authors.forename: I
authors.initials: I
authors.lastname: Meizner
authors.forename: Y
authors.initials: Y
authors.lastname: Barnhard
mesh_terms: D000328:Adult; D005260:Female; D005313:Fetal Death; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000196:embryology*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal / Q000379:methods; D014621:Vagina