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Article

Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2016

Iwakura Hideo, Fujii Katsunori, Furutani Yoshiyuki, Takatani Tomozumi, Ebata Ryota, Nakanishi Toshio, Mitsunaga Tetsuya, Saito Takeshi, Kishimoto Takashi, Yoshida Hideo, Shimojo Naoki

Abstract excerpt

Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disorder characterized by hypoplastic nails, polydactyly, and achondroplasia. Patients usually exhibit normal cognitive function and no remarkable developmental delay. We herein present an unusual case of EVC syndrome. A Japanese 2-year-old boy was born at term, but immediately developed severe respiratory failure due to thorax deformity, postaxial...

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Source

Identifiers

PMID: 26818569
DOI: 10.1111/ped.12846

Genes

EVC
EVC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction.PMID 26818569Read ↗

Ellis-van Creveld syndrome due to a novel EVC2 variant in a patient from TurkeySemantic proximity Read ↗

Ellis-van Creveld syndrome.Semantic proximity Read ↗

Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.Semantic proximity Read ↗

Ellis-van Creveld syndrome in a neonate: a case report.Semantic proximity Read ↗

Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.Semantic proximity Read ↗

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.Semantic proximity Read ↗

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.Semantic proximity Read ↗

Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.Semantic proximity Read ↗

Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.Semantic proximity Read ↗

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.Semantic proximity Read ↗

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.Semantic proximity Read ↗

Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.Semantic proximity Read ↗

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