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

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anal Canal / abnormalities*
  • Bone and Bones / abnormalities
  • Brain / abnormalities
  • Brain / 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