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Lyulcheva-Bennett et al. J Transl Genet Genom 2023;7:259-73  https://dx.doi.org/10.20517/jtgg.2023.33   Page 271

               Collaboration  among  researchers,  clinicians,  and  stakeholders  is  paramount  for  advancing  our
               understanding of Moebius syndrome. By pooling expertise and resources, there is potential to accelerate the
               pace of discovery and innovation. While answering the intricate questions surrounding the syndrome will
               necessitate further research, the insights garnered will deepen our comprehension of Moebius syndrome
               and delineate the relationships between genotypic variations and phenotypic manifestations. This will set
               the foundation for individualised management plans and strengthen clinicians’ capacity for accurate
               diagnosis, prognostication, targeted screening, and optimisation of patient and familial outcomes.
               Ultimately, with such collaborative efforts, the lives of those affected by Moebius syndrome stand to be
               significantly transformed, underscoring the importance of this collective goal.


               DECLARATIONS
               Authors’ contributions
               Conceptualisation, writing original draft: Lyulcheva-Bennett E
               Writing, review, and editing: All authors
               Visualisation: Lyulcheva-Bennett E, Bennett D

               Availability of data and materials
               Not applicable.

               Financial support and sponsorship
               None.


               Conflicts of interest
               All authors declared that there are no conflicts of interest.


               Ethical approval and consent to participate
               Not applicable.


               Consent for publication
               Not applicable.


               Copyright
               © The Author(s) 2023.


               REFERENCES
               1.       Graefe A. Diagnostik der Augenmuskellähmungen and Aetiologie und Pathogenese der Augenmuskellähmungen. In: Carl Ferdinand
                   von Arlt, editor. Handbuch der gesammten Augenheilkunde. Leipzig: Verlag Von Wilhelm Engelmann; 1880. pp. 60-7.
               2.       Mobius PJ. Ueber angeborene doppelseitige Abducens-Facialis-Lahmung. Munch Med Wochenschr 1888;35:91-4. Available from:
                   https://www.europeana.eu/de/item/03924/_0011_oai_biusante_parisdescartes_fr_medica_epo0687 [Last accessed on 14 Dec 2023].
               3.       Picciolini O, Porro M, Cattaneo E, et al. Moebius syndrome: clinical features, diagnosis, management and early intervention. Ital J
                   Pediatr 2016;42:56.  DOI  PubMed  PMC
               4.       Kadakia S, Helman SN, Schwedhelm T, Saman M, Azizzadeh B. Examining the genetics of congenital facial paralysis - a closer look
                   at Moebius syndrome. Oral Maxillofac Surg 2015;19:109-16.  DOI
               5.      Bell C, Nevitt S, McKay VH, Fattah AY. Will the real Moebius syndrome please stand up? A systematic review of the literature and
                   statistical cluster analysis of clinical features Am J Med Genet A 2019;179:257-65.  DOI
               6.      Miller G. The mystery of the missing smile. Science 2007;316:826-7.  DOI
               7.       Zaidi SMH, Syed IN, Tahir U, Noor T, Choudhry MS. Moebius syndrome: what we know so far. Cureus 2023;15:e35187.  DOI
                   PubMed  PMC
               8.       McKay VH, Touil LL, Jenkins D, Fattah AY. Managing the child with a diagnosis of Moebius syndrome: more than meets the eye.
                   Arch Dis Child 2016;101:843-6.  DOI  PubMed
               9.       Renault F, Flores-guevara R, Sergent B, et al. Pathogenesis of cranial neuropathies in Moebius syndrome: electrodiagnostic orofacial
                   studies. Muscle Nerve 2018;58:79-83.  DOI
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