title: A rare variant of Ellis van Creveld syndrome.
abstract: A nine-year-old boy presented with progressively-increasing exertional dyspnoea for the last three months. The only significant finding in the general survey was polydactyly. His vital signs were normal. He had a prominent apical diastolic thrill, a prominent S1 with a low-pitched grade 4/6 mid diastolic rumbling murmur over the apex. The S2 was widely split, fixed and the second component was louder than the first one. There was a grade 3/6 ejection systolic murmur over the left second intercostal space. Electrocardiography showed features of left axis deviation, bi-atrial enlargement and right ventricular hypertrophy. Transthoracic echocardiography identified a thin undulating intra-atrial membrane on the left side along with an ostium-primum defect. In this patient, the diagnosis of a variant of Ellis van Creveld syndrome was made.
authors.affiliation: Department of Medicine, Midnapore Medical College, PO Midnapore, Dist. Pashim Medinipur, West Bengal 721101, India. docparthapc@yahoo.co.in
authors.forename: P P
authors.initials: PP
authors.lastname: Chakraborty
authors.forename: D
authors.initials: D
authors.lastname: Bandyopadhyay
authors.forename: S K
authors.initials: SK
authors.lastname: Mandal
authors.forename: R C
authors.initials: RC
authors.lastname: Subhasis
mesh_terms: D002648:Child; D003310:Cor Triatriatum / Q000150:complications*; D004417:Dyspnea / Q000209:etiology*; D004452:Echocardiography; D004613:Ellis-Van Creveld Syndrome / Q000150:complications* / Q000175:diagnosis*; D004694:Endocardial Cushion Defects / Q000150:complications*; D006801:Humans; D008297:Male; D017689:Polydactyly