Imaging Sci Dent.  2011 Dec;41(4):167-170. 10.5624/isd.2011.41.4.167.

Ellis-van Creveld syndrome in an Indian child: a case report

Affiliations
  • 1Department of Oral Medicine and Radiology, Yenepoya Dental College, Yenepoya University, Mangalore, India. veenaomr@rediffmail.com
  • 2Department of Oral Surgery, Yenepoya Dental College, Yenepoya University, Mangalore, India.

Abstract

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

Keyword

Ellis-Van Creveld Syndrome; Genu Valgum; Postaxial Polydactyly

MeSH Terms

Amish
Child
Dentistry
Dentists
Dwarfism
Ectodermal Dysplasia
Ellis-Van Creveld Syndrome
Genu Valgum
Hand
Heart
Humans
Jaw
Nails
Oral Manifestations
Osteochondrodysplasias
Parturition
Pennsylvania
Polydactyly
Prevalence
Strikes, Employee
Tooth
Wills
Dwarfism
Osteochondrodysplasias
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