| Literature DB >> 24151023 |
Simon Castro1, Efren Peraza, Astrid Barraza, Marco Zapata.
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.Entities:
Keywords: Robinow syndrome; fetal face syndrome; fetal malformations; prenatal diagnosis; sonography
Mesh:
Year: 2013 PMID: 24151023 DOI: 10.1002/jcu.22103
Source DB: PubMed Journal: J Clin Ultrasound ISSN: 0091-2751 Impact factor: 0.910