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Ellis-van Creveld Syndrome: A Case Report.
Subash Singh1, Vandana Arya2, M Jonathan Daniel3
1Lecturer, Department of Pedodontics and Preventive Dentistry Mahatma Gandhi Post Graduate Institute, Puducherry-605006, India
International Journal of Clinical Pediatric Dentistry
|September 11, 2014
Summary
Ellis-van Creveld syndrome is a rare genetic disorder causing skeletal dysplasia, characterized by short limbs, extra fingers, and heart defects. This case report details a typical presentation of this condition.
Area of Science:
- Genetics
- Pediatrics
- Skeletal Dysplasias
Background:
- Ellis-van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, is a rare genetic disorder.
- It is a type of skeletal dysplasia affecting bone and cartilage development.
Observation:
- The syndrome presents with characteristic features including short-limb dwarfism and polydactyly (extra digits).
- Other common manifestations include malformed wrist bones, nail dystrophy, and cleft lip.
- Prenatal eruption of teeth and congenital heart defects are also frequently observed.
Findings:
- This article reports a typical case of Ellis-van Creveld syndrome.
- The case illustrates the classic clinical features of the disorder.
Implications:
- Accurate diagnosis and understanding of Ellis-van Creveld syndrome are crucial for genetic counseling and patient management.
- Further research into the genetic basis and treatment options for skeletal dysplasias like EVC is warranted.
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