Ellis-Van Creveld Syndrome in a Neonate

• Published in: Journal of the College of Physicians and Surgeons--Pakistan Vol. 28; no. 3; pp. S44 - S45
• Main Authors: Wahid, Sughra, Aslam, Saqib, Minhas, Sadaf
• Format: Journal Article
• Language: English
• Published: Pakistan 01-03-2018
• Subjects: Ectodermal Dysplasia - complications; Ectodermal Dysplasia - genetics; Ectodermal Dysplasia - pathology; Ellis-Van Creveld Syndrome - complications; Ellis-Van Creveld Syndrome - genetics; Ellis-Van Creveld Syndrome - pathology; Female; Humans; Infant, Newborn; Mouth Abnormalities - etiology; Tooth Abnormalities - etiology
• ISSN: 1022-386X; 1681-7168
• DOI: 10.29271/jcpsp.2018.03.44

Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, mesodermal, and endodermal derivatives. It has an autosomal recessive inheritance. This is caused by mutations in 1 of 2 genes, EVC 1 or EVC 2. This syndrome has a constellation of characteristic features that include bilateral post-axial polydactyly, mainly involving the upper limbs, hypoplastic nails and teeth, congenital heart defects, and chondroectodermal dysplasia. It is mainly a disorder of Amish population where incidence of this disease is 1/5000 and its incidence in non-Amish population is 7/1000000. Our patient had all the major characteristic features consistent with Ellis-van Creveld syndrome including post-axial polydactyly, teeth and nail abnormalities, congenital heart defect and skeletal dysplasia. Until now, only five cases have been reported from this region of the world, none of them diagnosed in neonatal life and having characteristic common atrium.