13. AHAMADU.cdr

ELLIS-van CREVELD SYNDROME IN A NIGERIAN WOMAN: A CASE STUDY 1 2 1 1 AHMADU MS, TALLEMA, AHIDJO A, TAHIR AA Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare, autosomal recessive th disorder that was first described by Ellis and van Creveld in the mid-20 century.The syndrome is characterized by a tetrad of chondrodystrophy, post axial polydactyly, and hidrotic ectodermal dysplasia, mostly involving teeth and nails and a high frequency of congenital cardiac anomalies, most frequently a common atrium.There has been no documented case report of EVC syndrome from Nigeria in the literature. We, therefore, present a 30 year-old Nigerian woman who presented to our hospital with features consistent with this rare syndrome. syndrome is now known to affect all races with an estimated birth prevalence of 7/1,000,000 in 1,2 the general population . Given the variable phenotypic patterns, the full spectrum of the disorder may be lacking in a given patient. However, the classic presentation includes disproportionate small stature with shortening of the middle and distal phalanges, bilateral (rarely unilateral) postaxial polydactyly of the hands (and occas iona l ly the f ee t ) , malformation of the carpal bones, congenital heart defect (atrioventricular canal with common atrium) and hidrotic ectodermal 3 dysplasia affecting the nails, hair and teeth . There has been no report of a case of EVC syndrome from Nigeria in the literature.We, therefore, present a case of EVC syndrome in a 30 year-old Nigerian woman with short stature, bilateral postaxial polydactyly, fusion of the carpal bones, missing phalanges, hypoplastic nails, atrioventricular canal defects and single atrium. CASE REPORT A 30 year-old female was referred to the cardiac unit of the UMTH with two months history of progressive shortness of breath, palpitation, chest discomfort and leg swelling. She developed cough productive of whitish sputum a week prior to presentation. There Department of Radiology, University of Maiduguri Teaching Hospital, Maiduguri, Nigeria Department of Internal Medicine, University of Maiduguri Teaching Hospital, Maiduguri, Nigeria DR. AHMADU MUHAMMAD SANI Department of Radiology, University of Maiduguri Teaching Hospital, PMB 1414, Maiduguri, Borno State, Nigeria Phone:+234 7055882425 eMail:Correspondence to: [email protected] CASE REPORT Borno Medical Journal Vol. 13 Issue 1 Page 77 January June 2016 INTRODUCTION Ellis van Creveld(EVC) syndrome is a rare autosomal recessive disorder with variable 1 phenotypic presentation . In its classic presentation, it comprises of a tetrad of chondropathy, bilateral postaxial polydactyly, ectodermal dysplasia and congenital cardiac 2 malformations . The syndrome results from a mutation involving the EVC1 and EVC2 gene, both located on chromosome 4p16.The exact prevalence of EVC syndrome is not known. Though largely reported in the old order Amish community of Pennsylvania in approximately five in 1000 live births, the This work is licensed under a Creative Commons Attribution 4.0 International License