Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations.

Abstract

Introduction: Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder characterized by growth retardation, dysplastic nails, cardiac defects, dental abnormalities, and polydactyly. Early diagnosis and multidisciplinary management are essential for improving patient outcomes.

Case report: We present a case of a 12-year-old male with EVC, born to consanguineous parents, who presented with bilateral bowing of the legs and difficulty walking. The patient exhibited classic features of EVC, including short stature, bilateral polydactyly, dysplastic nails, dental anomalies, and a history of cardiac defects. Radiological evaluation confirmed the diagnosis.

Conclusion: This case highlights the importance of early diagnosis and comprehensive management in EVC syndrome. Recognizing the characteristic clinical features is key to timely intervention and improved quality of life.