Beals-Hecht syndrome

South Med J. 2002 Jul;95(7):753-5.

Abstract

Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is caused by a defect in fibrillin as in Marfan syndrome. This syndrome is characterized by a multitude of clinical findings including arachnodactyly, narrow body habitus, scoliosis, congenital contractures, and external ear deformities. Restrictive lung disease may be associated with the severe scoliosis and thoracic cage abnormalities in this syndrome. We describe a child with Beals-Hecht syndrome and review the literature.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Connective Tissue Diseases / diagnosis*
  • Connective Tissue Diseases / genetics
  • Contracture / congenital
  • Contracture / diagnosis*
  • Contracture / genetics
  • Ear, External / abnormalities
  • Fibrillins
  • Genes, Dominant
  • Humans
  • Lung Diseases / diagnosis
  • Lung Diseases / genetics
  • Male
  • Microfilament Proteins / deficiency
  • Scoliosis / diagnosis
  • Scoliosis / genetics
  • Somatotypes
  • Syndrome

Substances

  • Fibrillins
  • Microfilament Proteins