Ellis-Van Creveld Syndrome, a Rare Anomaly with Obvious Musculoskeletal Variations

Basavaprabhu Achappa, Amrita, B. V. Murlimanju*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Introduction: we report a rare case of Ellis-Van Creveld Syndrome, which was characterized by ectodermal dysplasia, chondro dysplasia, polydactyly and congenital heart diseases. It is a rare autosomal recessive disorder, with a high mortality in early life, those who survive require multispecialty management and care. Early diagnosis and management can avoid the serious complications, morbidity and mortality.

Original languageEnglish
Pages (from-to)100-103
Number of pages4
JournalJournal of Morphological Sciences
Volume2024
Issue number41
DOIs
Publication statusPublished - 2024

All Science Journal Classification (ASJC) codes

  • Anatomy
  • Histology
  • Cell Biology

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