title: Short-rib-polydactyly syndrome presenting with increased nuchal translucency in a high-risk family.
abstract: Short-rib-polydactyly syndrome represents a group of rare, autosomal recessive, lethal skeletal dysplasias characterized by hypoplastic thorax, short ribs, short limbs, polydactyly, and visceral abnormalities. We describe an affected fetus from a high-risk family presenting with increased nuchal translucency at 13 weeks of pregnancy. The diagnosis was established in the 2nd trimester.
authors.affiliation: 1st Department of Obstetrics and Gynaecology, Alexandra Maternity Hospital, University of Athens, Athens, Greece.
authors.forename: G
authors.initials: G
authors.lastname: Daskalakis
authors.forename: A P
authors.initials: AP
authors.lastname: Souka
authors.forename: I
authors.initials: I
authors.lastname: Kavalakis
authors.forename: T
authors.initials: T
authors.lastname: Haritos
authors.forename: C
authors.initials: C
authors.lastname: Basayiannis
authors.forename: P
authors.initials: P
authors.lastname: Antsaklis
authors.forename: A
authors.initials: A
authors.lastname: Antsaklis
mesh_terms: D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D005260:Female; D005865:Gestational Age; D006801:Humans; D008297:Male; D048208:Nuchal Translucency Measurement; D017689:Polydactyly / Q000000981:diagnostic imaging*; D011247:Pregnancy; D012272:Ribs / Q000002:abnormalities*; D012307:Risk Factors; D013577:Syndrome; D014781:Viscera / Q000002:abnormalities