Ellis-van Creveld syndrome (EvC MIM. #225500) is an autosomal recessive skeletal dysplasia characterised by thoracic hypoplasia, cardiac anomalies, acromesomelic limb shortening, and postaxial polydactyly. Affected individuals commonly manifest with cardiorespiratory failure as neonates but generally survive neonatal difficulties. We report here on affected Japanese sibs with a lethal phenotype of EvC caused by novel compound heterozygous mutations of EVC2, c.871-3 C > G and c.1991dupA.

中文翻译：

---

由EVC2中的新突变引起的一种严重形式的Ellis-van Creveld综合征。

Ellis-van Creveld综合征（EvC MIM。＃225500）是常染色体隐性骨骼发育异常，特征是胸廓发育不全，心脏异常，顶体肢体缩短和后轴多指畸形。患病的个体通常表现为新生儿心肺衰竭，但通常可以克服新生儿的困难。我们在这里报告受影响的日本同胞，它们具有由EVC2，c.871-3 C> G和c.1991dupA的新型复合杂合突变引起的EvC致死表型。