Beals Hecht Syndrome-Arthrogryposis Multiplex Congenita-Congenital Arachnodactyly: Case Report


Gokkaya N. K. O. , Ucan H., Uckun A. C. , Alanay Y.

TURKIYE FIZIKSEL TIP VE REHABILITASYON DERGISI-TURKISH JOURNAL OF PHYSICAL MEDICINE AND REHABILITATION, cilt.57, ss.178-181, 2011 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 57 Konu: 3
  • Basım Tarihi: 2011
  • Doi Numarası: 10.4274/tftr.24582
  • Dergi Adı: TURKIYE FIZIKSEL TIP VE REHABILITASYON DERGISI-TURKISH JOURNAL OF PHYSICAL MEDICINE AND REHABILITATION
  • Sayfa Sayısı: ss.178-181

Özet

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.