Turkish Journal of Physical Medicine and Rehabilitation 2011 , Vol 57 , Num 3
Beals Hecht Syndrome-Arthrogryposis Multiplex Congenita-Congenital Arachnodactyly: Case Report
Nilüfer Kutay Ordu Gökkaya 1 ,Halil Uçan 2 ,Aslı Çalışkan Uçkun 3 ,Yasemin Alanay 4
1 Ankara Fizik Tedavi ve Rehabilitasyon Eğitim Araştırma Hastanesi, Kardiyopulmoner Rehabilitasyon Ünitesi, Ankara, Türkiye
2 Turkish Ministry of Health, Ankara Physical Medicine and Rehabilitation Training and Research Hospital, Ankara, Turkey
3 Ankara Fizik Tedavi ve Rehabilitasyon Eğitim Araştırma Hastanesi, Ankara, Türkiye
4 Hacettepe Üniversitesi Tıp Fakültesi, Çocuk Hastalıkları Anabilim Dalı, Çocuk Genetik Ünitesi, Ankara, Türkiye
DOI : 10.4274/tftr.24582

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.

Keywords : Artrogrypozis multiplex, Beals Hecht Syndrome, pediatric rehabilitatio