SEARCH

SEARCH BY CITATION

Keywords:

  • Ritscher–Schinzel syndrome;
  • autosomal recessive;
  • Dandy–Walker malformation;
  • cerebellar hypoplasia;
  • solitary kidney

Abstract

Ritscher–Schinzel (cranio-cerebello-cardiac, 3C) syndrome is a multiple congenital anomaly syndrome that is considered to be autosomal recessive although no genetic defect has yet been identified. In a consanguineous Saudi family, we have identified four patients who meet the diagnostic criteria of 3C syndrome and who also have alopecia, camptodactaly and significant renal involvement. Interestingly, two otherwise normal female siblings have unilateral renal agenesis only. This report expands the phenotypic spectrum of 3C syndrome. © 2011 Wiley-Liss, Inc.