Öz

Ellis-van Creveld (EvC) sendromu, otosomal resesif olarak kalıtılan nadir bir kondral ve ektodermal hastalıktır. Kondro ve ektodermal displazi, polidaktili ve konjenital kalp defektleri bu sendromun karakteristik bulgularıdır. Tek atrium ve endokardiyal yastık defektlerinin bu sendromda en sık rastlanan konjenital kalp defektleri olduğu bildirilmektedir. EvC sendromunun nadir görülmesi nedeni ile ekokardiyografik ve anjiyokardiyografik incelemede, tek atrium ve persistan sol süperior vena kava gibi doğumsal kalp anomalilerinin yanı sıra EvC sendromunun diğer klasik bulguları saptanan dört yaşındaki kız hasta sunulmuştur.

Anahtar Kelimeler: Ellis-van Creveld sendromu, Kalp atriumu, Konjenital kalp defekti, Süperior vena kava

Referanslar

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Telif hakkı ve lisans

Nasıl atıf yapılır

1.
Alp H, Şap F, Altın H, Karataş Z, Baysal T, Karaaslan S. Ellis-van Creveld Sendromu (Kondroektodermal Displazi) Bir Olgunun Sunumu: Tek Atrium ve Persistan Sol Süperior Vena Kava Birlikteliği. Turk J Pediatr Dis [Internet]. 2013 Aug. 1 [cited 2025 May 24];7(2):89-93. Available from: https://turkjpediatrdis.org/article/view/236