title: Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.
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.
authors.affiliation: Instituto de Investigaciones Biomédicas, Consejo Superior de Científicas, Universidad Autónoma de Madrid, Madrid, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Valencia
authors.affiliation: Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon.
authors.forename: Lara
authors.initials: L
authors.lastname: Tabet
authors.affiliation: Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon.
authors.forename: Nadine
authors.initials: N
authors.lastname: Yazbeck
authors.affiliation: Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon.
authors.forename: Alia
authors.initials: A
authors.lastname: Araj
authors.affiliation: Instituto de Investigaciones Biomédicas, Consejo Superior de Científicas, Universidad Autónoma de Madrid, Madrid, Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
authors.forename: Victor L
authors.initials: VL
authors.lastname: Ruiz-Perez
authors.affiliation: Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon.
authors.forename: Khalil
authors.initials: K
authors.lastname: Charaffedine
authors.affiliation: Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon.
authors.forename: Farah
authors.initials: F
authors.lastname: Fares
authors.affiliation: Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Badra
authors.affiliation: Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon ; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, Lebanon.
authors.forename: Chantal
authors.identifier: 0000-0003-3200-1086
authors.initials: C
authors.lastname: Farra