3C syndrome with cryptorchidism and posterior embryotoxon

Clin Dysmorphol. 2005 Apr;14(2):97-100.

Abstract

We report a case of the 3C (cranio-cerebello-cardiac) syndrome, also known as Ritscher-Schinzel syndrome, a rare autosomal recessive disorder characterized by craniofacial, cerebellar, and cardiac anomalies. In addition to features previously reported the child had Wormian bones of the skull, intra-abdominal testes, and posterior embryotoxon that have not previously been reported as part of the 3C syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Central Nervous System / abnormalities*
  • Cornea / abnormalities
  • Craniofacial Abnormalities / pathology*
  • Cryptorchidism / pathology*
  • Dandy-Walker Syndrome / diagnosis
  • Dandy-Walker Syndrome / pathology
  • Diagnosis, Differential
  • Greece
  • Heart Defects, Congenital / pathology*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Syndrome