title: Ultrasound diagnosis of severe mesomelic dysplasia in two fetuses, associated with increased neck translucency and tetralogy of Fallot in one and cystic hygroma in the other.
abstract: Two stillborn male sibling fetuses born to the same parents had severe mesomelic dysplasia documented at ultrasound and confirmed by radiography and autopsy. The 17-week-old fetus with increased neck translucency had additional heart and great vessel anomalies consistent with tetralogy of Fallot. The 15-week-old fetus had a nuchal cystic hygroma. We posit that these sibs have a distinct, previously unreported skeletal dysplasia. The mode of genetic transmission could be autosomal recessive or X-linked recessive.
authors.affiliation: Department of Medical Genetics, Municipal Hospital, Ostrava, Czech Republic.
authors.forename: Jan
authors.initials: J
authors.lastname: Vseticka
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Gattnarova
authors.forename: Ivo
authors.initials: I
authors.lastname: Marik
authors.forename: Kazimierz
authors.initials: K
authors.lastname: Kozlowski
mesh_terms: D000328:Adult; D005260:Female; D005333:Fetus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D018191:Lymphangioma, Cystic / Q000150:complications / Q000000981:diagnostic imaging*; D008297:Male; D009333:Neck / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011859:Radiography; D013771:Tetralogy of Fallot / Q000150:complications* / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal