Ellis-van Creveld syndrome
Shilpa S Sasalawad1, Shivayogi M Hugar, K S Poonacha
1Department of Pedodontics and Preventive Dentistry, KLE VK Institute of Dental Sciences, Belgaum, Karnataka, India.
BMJ Case Reports
|July 12, 2013
Summary
Ellis-van Creveld (EvC) syndrome, a rare genetic disorder, presents distinct oral and dental anomalies. Early diagnosis and multidisciplinary care are crucial for managing these complex cases.
Area of Science:
- Genetics
- Oral Medicine
- Pediatric Dentistry
Background:
- Ellis-van Creveld (EvC) syndrome, or chondroectodermal dysplasia, is an autosomal recessive disorder.
- It is characterized by chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects.
- The syndrome has a low incidence in the general population.
Observation:
- Oral manifestations in EvC syndrome involve both soft tissues and teeth.
- Dental literature on EvC syndrome's oral findings is limited.
- Oral findings can be diagnosed at any age, including during pregnancy.
Findings:
- Common oral findings include fusion of the upper lip to the gingival margin and multiple frenula.
- Abnormally shaped, microdontic, and congenitally missing teeth are frequently observed.
- These oral anomalies necessitate comprehensive, multidisciplinary dental treatment.
Implications:
- Recognizing the spectrum of oral findings in EvC syndrome is vital for timely diagnosis.
- Multidisciplinary dental management is essential for addressing the complex oral manifestations.
- Awareness of cardiac defect prevalence guides integrated patient care for Ellis-van Creveld syndrome.
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