ELLIS-VAN CREVELD SYNDROME
Yaşar Cesur 1, Sevil Arı Yuca 1 * , Abdurahman Üner 2, Köksal Yuca 3, Derya Arslan 4
More Detail
1 Yüzüncü Yıl University, Fakulty of Medicine, Department of Pediatric Endocrinelogy, Van, Turkey
2 Yüzüncü Yıl University, Fakulty of Medicine, Department of Pediatric Kardiyology, Van, Turkey
3 Yüzüncü Yıl University, Fakulty of Medicine, Department of Otolaryngology, Van, Turkey
4 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.

License

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

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

Eur J Gen Med, 2008 - Volume 5 Issue 3, pp. 187-190

Publication date: 15 Jul 2008

Article Views: 476

Article Downloads: 271

Open Access References How to cite this article