title: Prenatal diagnosis of Robinow syndrome: a case report.
abstract: Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and genital abnormalities. This report describes the sonographic findings in a case of autosomal-dominant Robinow syndrome diagnosed at 23.1 weeks' gestation, in a patient with no history of affected relatives. Here we describe the sonographic characteristics of this syndrome from the diagnosis until birth. The prenatal and postnatal findings, the differential diagnosis, and the prognosis of patients with this syndrome are discussed. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound, 42:297-300, 2014.
authors.affiliation: Department of Obstetrics and Gynecology, Hospital General Dr. Norberto Treviño Zapata, Victoria, Tamaulipas, Mexico.
authors.forename: Simon
authors.initials: S
authors.lastname: Castro
authors.forename: Efren
authors.initials: E
authors.lastname: Peraza
authors.forename: Astrid
authors.initials: A
authors.lastname: Barraza
authors.forename: Marco
authors.initials: M
authors.lastname: Zapata
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal / Q000379:methods*; D014564:Urogenital Abnormalities / Q000000981:diagnostic imaging*
keywords: Robinow syndrome; fetal face syndrome; fetal malformations; prenatal diagnosis; sonography