Congenital contractural arachnodactyly (Beals-Hecht syndrome): A case report Konjenital kontraktural araknodaktili (Beals-Hecht sendromu): Bir olgu sunumu
Haseki Tip Bulteni, cilt.49, sa.2, ss.88-89, 2011 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 49 Sayı: 2
- Basım Tarihi: 2011
- Dergi Adı: Haseki Tip Bulteni
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.88-89
- Anahtar Kelimeler: Arachnodactyly, Beals-Hecht syndrome, Joint contractures
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Congenital contractural arachnodactyly (Beals-Hecht syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by crumpled ears, multiple flexion contractures, arachnodactyly, and camptodactyly. It is caused by a mutation in FBN2 gene on chromosome 5q23. We report the case of a 25-day-old male infant with mild crumpled ears, hooked nose, micrognathia, short neck, long slim limbs with arachnodactyly, camptodactyly and joint contractures.