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Ellis Van Creveld syndrome.
1Department of Pedodontics and Preventive Dentistry, Govt. Dental College, Rohtak - 124 001, Haryana, India.
Summary
Ellis Van Creveld syndrome, a rare form of short-limbed dwarfism, presents with distinct clinical features. This case report details a classical presentation in a young boy, highlighting key diagnostic markers.
Area of Science:
- Genetics
- Pediatrics
- Medical Case Reports
Background:
- Ellis Van Creveld syndrome is a rare autosomal recessive disorder.
- It is characterized by a tetrad of disproportionate dwarfism, post-axial polydactyly, ectodermal dysplasia, and congenital heart defects.
Observation:
- This case report describes a seven-year-old boy with classical clinical findings of Ellis Van Creveld syndrome.
- The patient presented with features consistent with the known diagnostic criteria.
Findings:
- The patient exhibited disproportionate short-limbed dwarfism.
- Additional findings included post-axial polydactyly and ectodermal dysplasia.
- Congenital heart defects, a key component of the syndrome, were also noted.
Implications:
- This case reinforces the diagnostic criteria for Ellis Van Creveld syndrome.
- Early identification and management of associated heart defects are crucial.
- Understanding rare genetic disorders aids in comprehensive patient care and genetic counseling.
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