Ellis-van Creveld syndrome: a case report

Authors

  • Marya Hameed Department of Radiology, National Institute of Chila Health, Karachi, Pakistan
  • Ameet Kumar Jesrani Department of Radiology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan
  • Syed Maaz Tariq Department of Radiology, National Institute of Chila Health, Karachi, Pakistan
  • Hina Hanif Department of Radiology, National Institute of Chila Health, Karachi, Pakistan
  • Suneeta Bansari Department of Radiology, National Institute of Chila Health, Karachi, Pakistan
  • Ashok Kumar Department of Radiology, National Institute of Chila Health, Karachi, Pakistan

DOI:

https://doi.org/10.47391/JPMA.7049

Keywords:

Cardiomegaly, Polydactyly, Ellis-van Creveld Syndrome

Abstract

Ellis-van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, is a rare entity. It most commonly affects the tubular bones leading to dwarfism and a long trunk with ossification defects. Other presentations are wide hands and feet, dysplastic nails, thin hair, and cardiac malformations. An eight-year-old female patient presented to our tertiary care centre with complaints of short stature, abnormal dentition, and fatigue. The child’s parents were first-degree relatives. On radiological imaging, it was revealed that the patient had postaxial polydactyly, short stature, and genu valgum deformity along with mild cardiomegaly. All these features were indicative of Ellis-van Creveld syndrome. EVC is a rare clinical syndrome with a distinctive clinical presentation. It requires comprehensive radiological investigations and the management is best done with a multidisciplinary approach.

Keywords: Cardiomegaly, Polydactyly, Ellis-van Creveld Syndrome.

Author Biographies

Marya Hameed, Department of Radiology, National Institute of Chila Health, Karachi, Pakistan

Head of Department, Department of Radiology

Ameet Kumar Jesrani, Department of Radiology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan

Assistant Professor, Department of Radiology

Syed Maaz Tariq, Department of Radiology, National Institute of Chila Health, Karachi, Pakistan

House Officer, Department of Radiology

Hina Hanif, Department of Radiology, National Institute of Chila Health, Karachi, Pakistan

Consultant Radiologist, Department of Radiology

Suneeta Bansari, Department of Radiology, National Institute of Chila Health, Karachi, Pakistan

Radiologist, Department of Radiology

Ashok Kumar, Department of Radiology, National Institute of Chila Health, Karachi, Pakistan

Radiologist, Department of Radiology

Published

2024-01-20

How to Cite

Marya Hameed, Jesrani, A. K., Syed Maaz Tariq, Hanif, H., Bansari, S., & Kumar, A. (2024). Ellis-van Creveld syndrome: a case report. Journal of the Pakistan Medical Association, 74(2), 391–393. https://doi.org/10.47391/JPMA.7049

Issue

Section

Case Report