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Late survival in Ellis-van Creveld syndrome with common single atrium

Kesar Prajapati1, Jaya Pathak2, Vikranti Sailor3

  • 1Medicine, Baroda Medical College, Vadodara, Gujarat, India kesarprajapati10694@gmail.com.

BMJ Case Reports
|March 25, 2021
PubMed

Insights

Ellis-van Creveld (EVC) syndrome, a rare dysplasia, typically involves heart defects and short lifespans. This report details an exceptional case of EVC diagnosed at 60 years old, highlighting extended survival.

Area of Science:

  • Medical Genetics
  • Skeletal Dysplasias
  • Cardiology

Background:

  • Ellis-van Creveld (EVC) syndrome is a rare chondroectodermal dysplasia.
  • It is characterized by generalized disorder of endochondral ossification.
  • Congenital heart disease, particularly common atrium, affects about half of EVC patients.

Keywords:
cardiovascular medicinegenetic screening / counsellingmedical educationmedical management

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