TURKIYE FIZIKSEL TIP VE REHABILITASYON DERGISI-TURKISH JOURNAL OF PHYSICAL MEDICINE AND REHABILITATION, vol.57, no.3, pp.178-181, 2011 (SCI-Expanded)
Beals Hecht syndrome, also known as congenital contractural arachnodactyly, is a member of arthrogyposis 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. Turk J Phys Med Rehab 2011;57:178-81.