Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome

Lancet. 2001 May 12;357(9267):1500-2. doi: 10.1016/S0140-6736(00)04661-4.

Abstract

The diagnosis of Ehlers-Danlos syndrome is based on distinctive phenotypical characteristics such as hyperelastic skin and hypermobile joints. To date, no congenital physical markers exist for identifying patients with Ehlers-Danlos syndrome. Absence of the inferior labial (100% sensitivity; 99.4% specificity) and lingual frenulum (71.4% sensitivity; 100% specificity) was found to be associated with classical and hypermobility types of Ehlers-Danlos syndrome.

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Diagnosis, Differential
  • Ehlers-Danlos Syndrome / diagnosis*
  • Ehlers-Danlos Syndrome / genetics
  • Female
  • Humans
  • Labial Frenum / abnormalities*
  • Lingual Frenum / abnormalities*
  • Male
  • Middle Aged
  • Sensitivity and Specificity