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Related Experiment Video

Updated: Jul 16, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Ellis-van Creveld syndrome.

Corina Lichiardopol¹, C Militaru

¹Department of Endocrinology, University of Medicine and Pharmacy of Craiova, Romania. corinalich@gmail.com

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie

|March 30, 2007

Summary

Ellis-van Creveld syndrome, a rare genetic disorder, presents with skeletal, ectodermal, and cardiac issues. This case highlights a 24-year-old female with Ellis-van Creveld syndrome, detailing her unique clinical and radiological manifestations.

Area of Science:

Medical Genetics
Clinical Case Study

Background:

Ellis-van Creveld syndrome is a rare autosomal recessive disorder.
It is characterized by chondrodystrophy, postaxial polydactyly, ectodermal dysplasia, and cardiac anomalies.
Caused by mutations in the EVC and EVC2 genes on chromosome 4p16.

Observation:

A 24-year-old female patient presented with acromesomelic short stature (135 cm), narrow thorax, genu valgum, and club feet.
Clinical features included brachydactyly, malposed toes, hypoplastic nails and teeth, alopecia, a small goiter, and hypoplastic mammary glands.
Radiological findings revealed short metacarpals and phalanges, carpal fusion, ulnar epiphysis abnormalities, genu valgum, short fibulae, and a narrow thorax.

Findings:

Echocardiogram showed an absent atrial septum and basal ventricular septum, with cardiac enlargement and hilar congestion.

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Electrocardiogram revealed right bundle branch block, left anterior fascicular block, and left ventricular hypertrophy.

Laboratory tests showed low ionic calcium (3.8 mg/dL) with normal thyroid function.

Implications:

This case expands the understanding of Ellis-van Creveld syndrome's phenotypic variability.
Highlights the importance of comprehensive evaluation for skeletal, ectodermal, and cardiac abnormalities in affected individuals.
Further research into genotype-phenotype correlations may improve diagnostic and management strategies.