Ellis-van Creveld syndrome in an Indian child: a case report
K.M. Veena, H. Jagadishchandra, Prasanna Kumar Rao, Laxmikanth Chatra,
소속 상세정보
( K.M. Veena ) - Yenepoya University Yenepoya Dental College Department of Oral Medicine
( H. Jagadishchandra ) - Yenepoya University Yenepoya Dental College Department of Oral Surgery
( Prasanna Kumar Rao ) - Yenepoya University Yenepoya Dental College Department of Oral Medicine
( Laxmikanth Chatra ) - Yenepoya University Yenepoya Dental College Department of Oral Medicine
KMID : 1024020110410040167
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.
키워드
Ellis-Van Creveld Syndrome; Genu Valgum; Postaxial Polydactyly
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