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Related Experiment Video

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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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.

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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.