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- W4230339909 abstract "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. Am. J. Med. Genet. 75:300–303, 1998. © 1998 Wiley-Liss, Inc." @default.
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- W4230339909 date "1998-01-23" @default.
- W4230339909 modified "2023-10-17" @default.
- W4230339909 title "Sibs with Ritscher‐Schinzel (3C) syndrome and anal malformations" @default.
- W4230339909 doi "https://doi.org/10.1002/(sici)1096-8628(19980123)75:3<300::aid-ajmg15>3.3.co;2-b" @default.
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