Abstract
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.
Highlights
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
The clinical outcomes of EvC are variable according to the severity of thoracic hypoplasia and concurrent congenital heart defects[8]
We report here on affected Japanese sibs with a lethal phenotype of EvC
Summary
Ikuko Ohashi[1], Yumi Enomoto[2], Takuya Naruto[2], Yoshinori Tsurusaki[2], Yukiko Kuroda[1], Hiroshi Ishikawa[3], Makiko Ohyama[4], Noriko Aida[5], Gen Nishimura[6] and Kenji Kurosawa 1,2
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