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, vol.57, no.3, pp.178-181, 2011 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 57 Issue: 3
  • Publication Date: 2011
  • Doi Number: 10.4274/tftr.24582
  • Title of Journal : TURKIYE FIZIKSEL TIP VE REHABILITASYON DERGISI-TURKISH JOURNAL OF PHYSICAL MEDICINE AND REHABILITATION
  • Page Numbers: pp.178-181

Abstract

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.