Síndrome de Moebius: reporte de un caso

Moebius Syndrome: A Case Report on an Uncommon Congenital Syndrome

“…The results showed that mutations in the MBS1, MBS2, and MBS3 genetic loci contribute to the development of MS through various pathways. HOX genes from the family encoding homeobox domains were also involved in abnormal brain development [1]. The results of this study add to a growing database of mutations associated with this syndrome and can be used to diagnose MS and clarify its pathogenesis.…”

“…The molecular basis of MS is diverse. Mederos-Mollineda et al provided a comprehensive summary of the genetic and etiological literature underlying this disorder by selecting and examining articles from 1880 to 2013 to understand all molecular theories and the chronicity of literature progress, elucidate the genetic causes of the disease, and aid in early detection and treatment planning [1]. The results showed that mutations in the MBS1, MBS2, and MBS3 genetic loci contribute to the development of MS through various pathways.…”

“…Other cranial nerves may also be affected (V, X, and XI). Associations with multiple malformations such as limb malformations, especially Poland anomaly (insufficient pectoral muscles and a unique fold on the palm of the same side) or other hand and finger anomalies, mental retardation, and autism have been reported in some cases [1]. We report a three-year-old girl who was diagnosed with MS in its second pattern diagnosed through clinical asymmetry and confirmed by the absence of the left facial nerve on magnetic resonance imaging.…”

“…Moebius syndrome (MS) is an uncommon congenital syndrome distinguished by complete and bilateral facial paralysis, along with limited lateral movement of the eyes. It is defined by congenital bilateral involvement of the sixth and seventh cranial nerves, sometimes associated with other malformations [1]. Initially described in 1880 by von Graefe and Saemish, who, at that time, grouped certain patients with rare congenital disorders of the facial region that were nonprogressive, it was later validated in 1888 by Paul Julius Moebius, who named it Moebius syndrome.…”

Sequência de Moebius e a condição de saúde bucal: Relato de caso

“…As alterações apresentadas pela paciente como: paralisia bilateral do nervo facial, não selamento dos lábios, estrabismo, olhos ressecados e pé valgo, são características geralmente encontradas em pessoas com a Sequência de Moebius segundo a literatura pesquisada (Pedro, 2019;Saavedra, et al, 2018;Hoyle & Durey, 2017;Mederos-Mollineda, et al, 2017). (Mussi, et al, 2016) relata em seu trabalho que pessoas com Sequência de Moebius apresentam fluxo salivar diminuído e sua composição alterada fazendo com que a capacidade tampão seja menos eficaz, favorecendo o surgimento de cárie e doença periodontal.…”