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[Ellis van Creveld syndrome].

A M Salvador Amores1, C Grande Baos, M L Blanco Caneda

  • 1Departamento de Pediatria, Hospital Clínico Universitario de San Carlos, Madrid.

Anales Espanoles De Pediatria
|May 1, 1990
PubMed
Summary

This study presents two cases of Ellis van Creveld syndrome, highlighting frequent cardiac and rare ocular malformations. Both infants experienced respiratory distress and cardiac anomalies, leading to fatal outcomes.

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Area of Science:

  • Medical Genetics
  • Neonatology
  • Pediatric Cardiology

Background:

  • Ellis van Creveld syndrome is a rare genetic disorder characterized by skeletal dysplasia, ectodermal, and cardiac anomalies.
  • Neonatal diagnosis and management of rare genetic syndromes require comprehensive clinical and radiological evaluation.

Observation:

  • Two neonates diagnosed with Ellis van Creveld syndrome presented with distinct clinical features.
  • One neonate exhibited rare ocular malformations alongside frequent cardiac defects, while the other showed less severe long bone alterations despite being below the third percentile for height.

Findings:

  • Both cases presented with significant cardiac malformations, a common feature of Ellis van Creveld syndrome.
  • Variability in skeletal and anthropometric features was observed, with implications for disease presentation and severity.

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  • Lack of adipose tissue was noted in one case, despite normal weight range in the other.

    • Implications:

    • This case series underscores the phenotypic variability of Ellis van Creveld syndrome, emphasizing the need for thorough diagnostic workups in neonates.
    • Early identification and management of cardiac and respiratory complications are critical for improving outcomes in affected infants.
    • Further research into genotype-phenotype correlations may aid in predicting disease trajectory and guiding therapeutic strategies.