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Prenatal diagnosis of robinow syndrome: A case report
Author(s) -
Castro Simon,
Peraza Efren,
Barraza Astrid,
Zapata Marco
Publication year - 2014
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.22103
Subject(s) - medicine , prenatal diagnosis , gestation , differential diagnosis , sex organ , pediatrics , fetus , obstetrics , pregnancy , pathology , genetics , biology
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