Weichert Jan, Schröer Andreas, Amari Feriel, Siebert Reiner, Caliebe Almuth, Nagel Inga, Gillessen-Kaesbach Gabriele, Mohrmann Inga, Hellenbroich Yorck
Bereich Pränatalmedizin, Klinik für Frauenheilkunde und Geburtshilfe, Universität zu Lübeck, Lübeck, Germany.
Eur J Med Genet. 2011 May-Jun;54(3):343-7. doi: 10.1016/j.ejmg.2011.02.009. Epub 2011 Mar 21.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, congenital heart defects and genitourinary anomalies. There is little published information regarding the prenatal presentation of SGBS in pregnancy. In the present report we describe the antenatal features of an affected fetus from 12 gestational weeks onwards, subsequently diagnosed with SGBS by molecular testing positive for GPC3 gene mutation.
辛普森-戈拉比-贝梅尔综合征（SGBS）是一种罕见的X连锁隐性疾病，包括出生前和出生后的过度生长以及多种其他异常，如颅面畸形、巨头畸形、先天性心脏缺陷和泌尿生殖系统异常。关于孕期SGBS的产前表现， published的信息很少。在本报告中，我们描述了一名受影响胎儿从妊娠12周起的产前特征，随后通过GPC3基因突变分子检测呈阳性被诊断为SGBS。
