Orstavik K H, Bechensteen A G, Fugelseth D, Orderud W
Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway.
Am J Med Genet. 1998 Jan 23;75(3):300-3.
Ritscher-Schinzel syndrome (cranio-cerebello-cardiac syndrome, 3C syndrome) is a recently delineated disorder with Dandy-Walker malformation, congenital heart defects, and characteristic face. Various other defects, including eye and kidney malformations, have been described in the few patients reported. Here we describe 3 sibs born to consanguineous Pakistani parents with 3C syndrome. All 3 children had atrial septal defects II and ventricular septal defects and died within 3 months. Two of them had a Dandy-Walker malformation, whereas 1 had only slightly dilated ventricles. One sib had anal atresia, and another a ventrally displaced anus. The findings in the 3 sibs demonstrate the intrafamilial variation in the Ritscher-Schinzel syndrome, because the second sib did not have a Dandy-Walker malformation. Anal anomalies have not been previously reported as a component manifestation of the disorder. The occurrence of 3 affected sibs in a consanguineous family confirms autosomal recessive inheritance.
里切尔-申泽尔综合征（颅-小脑-心脏综合征，3C综合征）是一种最近才被明确的疾病，伴有丹迪-沃克畸形、先天性心脏缺陷和特征性面容。在已报道的少数患者中还描述了包括眼部和肾脏畸形在内的各种其他缺陷。在此，我们描述了3名患有3C综合征的同胞，他们的父母是近亲结婚的巴基斯坦人。这3名儿童均患有房间隔缺损II型和室间隔缺损，并在3个月内死亡。其中2人患有丹迪-沃克畸形，而1人仅有轻度脑室扩张。一名同胞患有肛门闭锁，另一名患有肛门异位。这3名同胞的发现证明了里切尔-申泽尔综合征在家族内的变异，因为第二名同胞没有丹迪-沃克畸形。肛门异常此前未被报道为该疾病的组成性表现。近亲家庭中出现3名患病同胞证实了常染色体隐性遗传。
