A rare variant of Ellis van Creveld syndrome

Chakraborty PP, Bandyopadhyay D, Mandal SK, Subhasis RC
Correspondence: Dr Partha Pratim Chakraborty, docparthapc@yahoo.co.in

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.

Keywords: cor triatriatum sinister, Ellis van Creveld syndrome, heart-hand syndrome, ostium-primum defect, polydactyly
Singapore Med J 2007; 48(7): 684–686