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

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.

• Authors: K H Orstavik, A G Bechensteen, D Fugelseth, W Orderud
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 75 Issue 3 Pg. 300-3 (Jan 23 1998) ISSN: 0148-7299 [Print] United States
• PMID: 9475602 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Anal Canal (abnormalities)
• Bone and Bones (abnormalities)
• Brain (abnormalities, diagnostic imaging)
• Craniofacial Abnormalities (genetics)
• Dandy-Walker Syndrome (genetics)
• Eye Abnormalities (genetics)
• Fatal Outcome
• Female
• Heart Defects, Congenital (genetics)
• Humans
• Infant
• Magnetic Resonance Imaging
• Male
• Radiography
• Syndrome