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  • Title: Absence of lingual frenulum in children with Ehlers-Danlos Syndrome: a retrospective study of forty cases and literature review of a twenty years long debate.
    Author: Savasta S, Bassanese F, Hruby C, Foiadelli T, Siri B, Gori V, Votto M, Tinelli C, Marseglia GL.
    Journal: Minerva Pediatr (Torino); 2021 Jun; 73(3):230-235. PubMed ID: 30961343.
    Abstract:
    BACKGROUND: Ehlers-Danlos syndrome (EDS) is part of connective tissue disorders and is characterized by skin hyperextensibility, joint hypermobility, easy bruising and other severe manifestations such as epilepsy, pneumothorax, arterial rupture and bowel perforation. In 2017 a new classification was published, indicating major and minor criteria for each form of EDS. Further reports in the past years tried to determine whether or not the absence of lingual frenulum should be included in minor criteria for the diagnosis of EDS, but a consensus has still not been reached. The aim of this study was to assess the clinical relevance of lingual frenulum absence, evaluating its prevalence in a cohort of EDS pediatric patients and comparing it to a group of controls. METHODS: Patients with Ehlers-Danlos syndrome were observed at our Department of Pediatrics of Policlinico S. Matteo in Pavia, Italy. Each patient underwent clinical examination of the oral cavity, and controls were chosen among patients referred to our Department. RESULTS: Thirty-three over 40 patients showed absence of lingual frenulum and 3 of them showed frenulum hypoplasia. Absence or hypoplasia of lingual frenulum showed a prevalence of 90% in our population, whereas only 3/170 controls (1.8%), had lingual frenulum absence. Overall, absence of the lingual frenulum showed a sensibility of 90% and a specificity of 98.2% in our population. CONCLUSIONS: In agreement with other authors, we believe that the absence of lingual frenulum should be included in the minor diagnostic criteria for Ehlers-Danlos Syndrome.
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