EDS is a group of inheritable connective tissue disorders, characterized by skin hyperextensibility and joint hypermobility, and it is thought to affect around one in 5,000 people.
Diagnosis at birth has not been possible, as the main phenotypical characteristics of EDS are not apparent until later in life.
Claudio De Felice and colleagues from the University of Siena, Italy,
tested the hypothesis that developmental abnormalities of the oral frenula
are associated with EDS.
Missing frenula may be useful as additional
minor criteria for identifying newborns with EDS.
|Claudio De Felice|
12 patients (5 male, 7 female) belonging to seven unrelated families
and fulfilling the clinical criteria for classical EDS (4 patients) or
hypermobility EDS (8 patients) were recruited to the study.
Absence of the inferior labial (100% sensitivity; 99% specificity) and lingual frenulum
(71% sensitivity; 100% specificity) was found to be associated with classical and hypermobility types of EDS.
Claudio De Felice comments: "Absence of the lingual frenulum has not been
previously associated with EDS, to the best of our knowledge. Although the
clinical variability and genetic heterogeneity of EDS have long been
recognized, such phenotypic characteristics may be useful as additional minor criteria for identifying newborns with EDS before the appearance of
the hallmark features.
"Further studies are required to understand the
underlying mechanisms of this feature in EDS patients, as well as possible
phenotype-genotype correlations in different EDS types and other major
inherited connective tissue disorders".