Wilson G N
Am J Med Genet. 1983 Mar;14(3):435-43. doi: 10.1002/ajmg.1320140306.
Four patients are presented with the Goldenhar syndrome (GS) and cranial defects consisting of plagiocephaly, microcephaly, skull defects, or intracranial dermoid cysts. Twelve cases from the literature add hydrocephalus, encephalocele, and arhinencephaly to a growing list of brain anomalies in GS. As a group, these patients emphasize the variability of GS and the increased risk for developmental retardation with multiple, severe, or unusual manifestations. The temporal relation of proposed teratogenic events in GS provides an opportunity to reconstruct biological relationships within the 3-5-week human embryo.
本文报告了4例患有Goldenhar综合征（GS）并伴有颅骨缺陷的患者，这些缺陷包括斜头畸形、小头畸形、颅骨缺损或颅内皮样囊肿。文献中的12个病例表明，GS患者脑异常的种类越来越多，还包括脑积水、脑膨出和无脑回畸形。总体而言，这些患者凸显了GS的变异性，以及伴有多种、严重或罕见表现时发育迟缓风险的增加。GS中拟致畸事件的时间关系为重建人类胚胎3至5周内的生物学关系提供了契机。
