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Ellis-van Creveld syndrome: a case report
1Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere 577 004, Karnataka, India. binaanjali_17@yahoo.co.in
Journal of the Indian Society of Pedodontics and Preventive Dentistry
|December 17, 2008
Summary
Ellis-van Creveld syndrome (EvC) is a rare genetic disorder affecting embryonic development. Mutations in EVC and EVC2 genes cause this skeletal dysplasia, often linked with heart defects.
Area of Science:
- Genetics
- Developmental Biology
- Medical Genetics
Background:
- Ellis-van Creveld syndrome (EvC), also known as chondroectodermal dysplasia, is a complex genetic disorder.
- It involves all three embryonic germ layers and is inherited in an autosomal recessive pattern.
- The condition is characterized as a skeletal dysplasia with a reported incidence of approximately 1 in 150,000 live births.
Observation:
- Mutations in the EVC and EVC2 genes have been identified as the primary cause of Ellis-van Creveld syndrome.
- A higher prevalence of EvC is observed in specific populations, including the Amish and Arab populations of the Gaza strip.
- Over 300 cases of EvC have been documented in scientific literature.
Findings:
- Congenital cardiac malformations are a significant feature, present in approximately 50-60% of reported EvC cases.
- The genetic basis involves mutations in specific genes crucial for embryonic development.
- EvC presents as a distinct skeletal dysplasia with characteristic clinical features.
Implications:
- Understanding the genetic underpinnings of EvC is crucial for diagnosis and genetic counseling.
- Further research into EVC and EVC2 gene functions can elucidate developmental pathways.
- Identifying associated cardiac anomalies early is vital for patient management and improving outcomes.
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