Ellis Van Creveld Syndrome: A Case Report
Sarath Kumar
Department of Oral Medicine and Radiology, SRM Dental College, Ramapuram, SRM University, Chennai, India.
S. Padmavathi
Department of Oral Medicine and Radiology, SRM Dental College, Ramapuram, SRM University, Chennai, India.
G. Anuradha
Department of Oral Medicine and Radiology, SRM Dental College, Ramapuram, SRM University, Chennai, India.
A. Kannan
Department of Oral Medicine and Radiology, SRM Dental College, Ramapuram, SRM University, Chennai, India.
C. L. Krithika
Department of Oral Medicine and Radiology, SRM Dental College, Ramapuram, SRM University, Chennai, India.
*Author to whom correspondence should be addressed.
Abstract
Ellis Van Creveld Syndrome (EVC) is a infrequent inborn genetic disorder with an x-linked recessive pattern of inheritance. This is recognized by bilateral accessory little finger in upper extremity, short limbs, ectodermal dysplasia affecting teeth and nails, and congenital cardiac defect. The overall prevalence of this disease is 7 in 1000000. In this current case, a 9year old female patient reported with typical general and oral manifestations, which were key diagnostic features of EVC syndrome.
Keywords: Ellis van creveld syndrome, congenital heart defect, autosomal recessive