ÖZET
Konjenital kontraktural araknodaktili (Beals–Hecht sendromu) buruşuk kulak, çoklu fleksiyon kontraktürleri, araknodaktili ve kamptodaktili ile karakterize otozomal dominant geçişli bir bağ dokusu bozukluğudur. Kromozom 5q23 üzerindeki FBN2 genindeki bir mutasyon ile oluşur. Biz bu yazıda hafif buruşuk kulakları, gaga burunu, mikrognatisi, kısa boyunu, araknodaktilili uzun ince ekstremiteleri, kamptodaktilisi ve eklem kontraktürleri olan 25 günlük erkek bir hastayı sunmayı amaçladık.
References
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