Literature DB >> 15770133

3C syndrome with cryptorchidism and posterior embryotoxon.

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.

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Year:  2005        PMID: 15770133     DOI: 10.1097/00019605-200504000-00009

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  1 in total

1.  3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst.

Authors:  K M Sargar; A Radmanesh; T E Herman; M J Siegel
Journal:  J Perinatol       Date:  2015-03       Impact factor: 2.521

  1 in total

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