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Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations

✍ Scribed by �rstavik, Karen Helene; Bechensteen, Anne Grethe; Fugelseth, Drude; Orderud, Wenche

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 34 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980123)75:3<300::aid-ajmg15>3.0.co;2-t

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✦ Synopsis

Ritscher

-Schinzel syndrome (craniocerebello-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.

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