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Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

机译：Ellis-van Creveld综合征：黎巴嫩家庭中发现的突变

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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 inEVCandEVC2genes.Case Presentation. We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in theEVC2gene, 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.
机译：背景。 Ellis-van Creveld（EvC）综合征是一种罕见的常染色体隐性遗传疾病，其特征是身材矮小，四肢短小，生长迟缓，多指畸形和外胚层缺陷，其中约60％的病例发生心脏异常。 EVC综合征与EVC和EVC2基因的突变有关。我们报告了两个无关的黎巴嫩家庭中的EvC综合征，它们在外显子15和13中分别在EVC2基因c.2653C> T（p。（Arg885 *））和c.2012_2015del（p。（Leu671 *））中具有纯合突变，后者是第一次报告。结论。尽管在医学文献中对EvC进行了大量描述，但该综合征的临床特征有所不同。虽然需要更多的研究来探索参与EvC的其他基因，但早期诊断和治疗对提高生活质量至关重要。

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