ELLIS-VAN CREVELD SYNDROME
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Yaşar Cesur 1, Sevil Arı Yuca 1 * , Abdurahman Üner 2, Köksal Yuca 3, Derya Arslan 4
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1 Yüzüncü Yıl University, Fakulty of Medicine, Department of Pediatric Endocrinelogy, Van, Turkey2 Yüzüncü Yıl University, Fakulty of Medicine, Department of Pediatric Kardiyology, Van, Turkey3 Yüzüncü Yıl University, Fakulty of Medicine, Department of Otolaryngology, Van, Turkey4 Yüzüncü Yıl University, Fakulty of Medicine, Department of Pediatrics, Van, Turkey* Corresponding Author

Abstract

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.

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Original Article

EUR J GEN MED, 2008, Volume 5, Issue 3, 187-190

https://doi.org/10.29333/ejgm/82604

Publication date: 15 Jul 2008

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