Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome.
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.
De Felice
C
C
Toti
P
P
Di Maggio
G
G
Parrini
S
S
Bagnoli
F
F
D000293:Adolescent; D000328:Adult; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007742:Labial Frenum / Q000002:abnormalities*; D008035:Lingual Frenum / Q000002:abnormalities*; D008297:Male; D008875:Middle Aged; D012680:Sensitivity and Specificity