Hurler Syndrome: Orofacial Clinical Findings.

Autor:	Rodrigues Barros C; Stomatology Department, Centro Hospitalar Universitário de Lisboa Central, Lisbon, PRT., Ferrão J; Stomatology Department, Centro Hospitalar Universitário de Lisboa Central, Lisbon, PRT., Machado MDC; Stomatology Department, Centro Hospitalar Universitário de Lisboa Central, Lisbon, PRT., Fernandes A; Pediatric Stomatology Department, Centro Hospitalar Universitário de Lisboa Central, Lisbon, PRT., Proença F; Stomatology Department, Centro Hospitalar Universitário de Lisboa Central, Lisbon, PRT.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2023 Jan 03; Vol. 15 (1), pp. e33313. Date of Electronic Publication: 2023 Jan 03 (Print Publication: 2023).
DOI:	10.7759/cureus.33313
Abstrakt:	Hurler syndrome (HS) belongs to the category of mucopolysaccharidosis (MPS), a spectrum of rare genetic disorders of the mucopolysaccharides metabolism. This syndrome is due to a defect in α-iduronidase, an enzyme responsible for the degradation of the glycosaminoglycans (GAGs) heparin and dermatan sulfate. Intra and extracellular accumulation of these non-metabolized substances may lead to multisystemic dysfunction, with severe stomatognathic involvement that may often need treatment. The aim of this article is to present the heterogeneity of orofacial and radiographic findings observed in two patients with HS with long-term follow-up, who were referred to our Stomatology department. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Rodrigues Barros et al.)
Databáze:	MEDLINE
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