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Case Reports in Genetics
Volume 2015, Article ID 528481, 4 pages
http://dx.doi.org/10.1155/2015/528481
Case Report

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

1Instituto de Investigaciones Biomédicas, Consejo Superior de Científicas, Universidad Autónoma de Madrid, Madrid, Spain
2Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon
3Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon
4Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain

Received 5 March 2015; Accepted 10 April 2015

Academic Editor: Philip D. Cotter

Copyright © 2015 Maria Valencia et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations in EVC and EVC2 genes. Case Presentation. We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in the EVC2 gene, c.2653C>T (p.(Arg885*)) and c.2012_2015del (p.(Leu671*)) in exons 15 and 13, respectively, with the latter being reported for the first time. Conclusion. Although EvC has been largely described in the medical literature, clinical features of this syndrome vary. While more research is required to explore other genes involved in EvC, early diagnosis and therapeutic care are important to achieve a better quality of life.