| Literature DB >> 15770133 |
Eleftheria Papadopoulou1, Stavros Sifakis, Maria Rogalidou, Antonios Makrigiannakis, Christina Giannakopoulou, Michael B Petersen.
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.Entities:
Mesh:
Year: 2005 PMID: 15770133 DOI: 10.1097/00019605-200504000-00009
Source DB: PubMed Journal: Clin Dysmorphol ISSN: 0962-8827 Impact factor: 0.816