ELLIS-VAN CREVELD SYNDROME

Yıl 2008, Cilt: 5 Sayı: 3, 187 - 190, 01.09.2008

Yaşar Cesur Sevil Arı Yuca Abdurahman Üner Köksal Yuca Derya Arslan

Öz

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Anahtar Kelimeler

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ELLIS-VAN CREVELD SYNDROME

Öz

Ellis-van Creveld syndrome (EVCS) or chondroectodermal dysplasia 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. The patient presented with short stature, polydactyly, triangular face and dental dismorphism was found appropriately as radiographic with ectodermal dysplasia. In addition to the presence of single atrium, mitral, tricuspid and pulmonary valve insufficiency and pulmonary hypertension wererevealed by echocardiography. Her history involved a sister who was dead in 3-month-ages

Anahtar Kelimeler

Ellis-van Creveld (EVC) syndrome, chondroectodermal dysplasia, single atrium, pulmonary hypertension

Kaynakça

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