Beals Hecht syndrome-arthrogryposis multiplex congenita-congenital arachnodactyly: Case report Beals Hecht sendromu-artrogripozis multipleks-kongenital araknodaktili: Olgu sunumu
Turkiye Fiziksel Tip ve Rehabilitasyon Dergisi, cilt.57, sa.3, ss.178-181, 2011 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 57 Sayı: 3
- Basım Tarihi: 2011
- Doi Numarası: 10.4274/tftr.24582
- Dergi Adı: Turkiye Fiziksel Tip ve Rehabilitasyon Dergisi
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.178-181
- Anahtar Kelimeler: Artrogrypozis multiplex, Beals Hecht Syndrome, pediatric rehabilitation
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Beals Hecht syndrome, also known as congenital contractural arachnodactyly, is a member of arthrogryposis multiplex congenita family. Similar to Marfan syndrome, it is caused by a defect in the gene encoding fibrillin, a large glycoprotein. This syndrome is characterized by arachnodactyly, narrow body habitus, scoliosis, congenital contractures, and external ear deformities. Restrictive lung disease may be associated with the severe scoliosis. We describe a child with Beals Hecht syndrome, review the relevant literature and emphasize the impact of early rehabilitation on these patients. © Turkish Journal of Physical Medicine and Rehabilitation, Published by Galenos Publishing.