Ellis-Van Creveld's Syndrome with Common Atrium

Abstract

Ellis-van Creveld syndrome (EVCS) is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. A 8 years old female child presented with history of breathlessness on exertion has disproportionate short stature, polydactyly, hydratic ectodermal dysplasia suggestive of EVCS. Echocardiographic examination revealed common atrium with mild pulmonary hypertension.

Keywords

• Ellis-Van Creveld syndrome, polydactyly, common atrium

Kaynakça

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