Ellis-van Creveld syndrome
European Journal of General Medicine, cilt.5, sa.3, ss.187-190, 2008 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 5 Sayı: 3
- Basım Tarihi: 2008
- Doi Numarası: 10.29333/ejgm/82604
- Dergi Adı: European Journal of General Medicine
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.187-190
- Anahtar Kelimeler: Chondroectodermal dysplasia, Ellis-van Creveld (EVC) syndrome, Pulmonary hypertension, Single atrium
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.