关键词: Robinow syndrome fetal face syndrome fetal malformations prenatal diagnosis sonography

Mesh : Abnormalities, Multiple / diagnostic imaging Adult Craniofacial Abnormalities / diagnostic imaging Diagnosis, Differential Dwarfism / diagnostic imaging Female Humans Infant, Newborn Limb Deformities, Congenital / diagnostic imaging Pregnancy Ultrasonography, Prenatal / methods Urogenital Abnormalities / diagnostic imaging

来  源:   DOI:10.1002/jcu.22103

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.
摘要:
暂无翻译
公众号