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Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families
Joint Authors
Badra, Rebecca
Valencia, Maria
Tabet, Lara
Yazbeck, Nadine
Araj, Alia
Ruiz-Perez, Victor L.
Charaffedine, Khalil
Farra, Chantal
Fares, Farah
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-04-30
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Valencia, Maria& Tabet, Lara& Yazbeck, Nadine& Araj, Alia& Ruiz-Perez, Victor L.& Charaffedine, Khalil…[et al.]. 2015. Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. Case Reports in Genetics،Vol. 2015, no. 2015, pp.1-4.
https://search.emarefa.net/detail/BIM-1058514
Modern Language Association (MLA)
Valencia, Maria…[et al.]. Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. Case Reports in Genetics No. 2015 (2015), pp.1-4.
https://search.emarefa.net/detail/BIM-1058514
American Medical Association (AMA)
Valencia, Maria& Tabet, Lara& Yazbeck, Nadine& Araj, Alia& Ruiz-Perez, Victor L.& Charaffedine, Khalil…[et al.]. Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. Case Reports in Genetics. 2015. Vol. 2015, no. 2015, pp.1-4.
https://search.emarefa.net/detail/BIM-1058514
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058514