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.

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.

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.

6. Miller G. The mystery of the missing smile. Science 2007;316:826-7.

7. Zaidi SMH, Syed IN, Tahir U, Noor T, Choudhry MS. Moebius syndrome: what we know so far. Cureus 2023;15:e35187.

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.

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.

10. Mathur S, Sutton J. Personalized medicine could transform healthcare. Biomed Rep 2017;7:3-5.

11. Vicente AM, Ballensiefen W, Jönsson JI. How personalised medicine will transform healthcare by 2030: the ICPerMed vision. J Transl Med 2020;18:180.

12. MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC. Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. Ophthalmology 2014;121:1461-8.

13. Terzis JK, Noah EM. Möbius and Möbius-like patients: etiology, diagnosis, and treatment options. Clin Plast Surg 2002;29:497-514.

14. Pedersen LK, Maimburg RD, Hertz JM, et al. Moebius sequence - a multidisciplinary clinical approach. Orphanet J Rare Dis 2017;12:4.

15. Sadeghi N, Hutchinson E, Van Ryzin C, et al. Moebius Syndrome Research Consortium. Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. Brain Commun 2020;2:fcaa014.

16. Verzijl HT, van der Zwaag B, Cruysberg JR, Padberg GW. Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment. Neurology 2003;61:327-33.

17. Raroque HG Jr, Hershewe GL, Snyder RD. Möbius syndrome and transposition of the great vessels. Neurology 1988;38:1894-5.

18. Herrera DA, Ruge NO, Florez MM, Vargas SA, Ochoa-Escudero M, Castillo M. Neuroimaging findings in moebius sequence. AJNR Am J Neuroradiol 2019;40:862-5.

19. Meyer AE. Unmasking Moebius syndrome. Nursing 2015;45:50-3.

20. Whitman MC, Jurgens JA, Hunter DG, Engle EC. Congenital fibrosis of the extraocular muscles overview. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, et al., editors. GeneReviews®. Seattle: Seattle (WA); 1993.

21. Webb BD, Frempong T, Naidich TP, Gaspar H, Jabs EW, Rucker JC. Mirror movements identified in patients with moebius syndrome. Tremor Other Hyperkinet Mov 2014;4:256.

22. Jissendi-Tchofo P, Severino M, Nguema-Edzang B, Toure C, Soto Ares G, Barkovich AJ. Update on neuroimaging phenotypes of mid-hindbrain malformations. Neuroradiology 2015;57:113-38.

23. Marques-Dias MJ, Gonzalez CH, Rosemberg S. Möbius sequence in children exposed in utero to misoprostol: neuropathological study of three cases. Birth Defects Res A Clin Mol Teratol 2003;67:1002-7.

24. Sarnat HB. Watershed infarcts in the fetal and neonatal brainstem. An aetiology of central hypoventilation, dysphagia, Möibius syndrome and micrognathia. Eur J Paediatr Neurol 2004;8:71-87.

25. Puvabanditsin S, Garrow E, Augustin G, Titapiwatanakul R, Kuniyoshi KM. Poland-Möbius syndrome and cocaine abuse: a relook at vascular etiology. Pediatr Neurol 2005;32:285-7.

26. Auffret M, Bernard-Phalippon N, Dekemp J, et al. Misoprostol exposure during the first trimester of pregnancy: is the malformation risk varying depending on the indication? Eur J Obstet Gynecol Reprod Biol 2016;207:188-92.

27. Vauzelle C, Beghin D, Cournot MP, Elefant E. Birth defects after exposure to misoprostol in the first trimester of pregnancy: prospective follow-up study. Reprod Toxicol 2013;36:98-103.

28. Terzis JK, Anesti K. Developmental facial paralysis: a review. J Plast Reconstr Aesthet Surg 2011;64:1318-33.

29. Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, et al. De novo mutations in PLXND1 and REV3L cause Möbius syndrome. Nat Commun 2015;6:7199.

30. Lin W, Wu X, Wang Z. A full-length cDNA of hREV3 is predicted to encode DNA polymerase zeta for damage-induced mutagenesis in humans. Mutat Res 1999;433:89-98.

31. Van Sloun PP, Varlet I, Sonneveld E, et al. Involvement of mouse Rev3 in tolerance of endogenous and exogenous DNA damage. Mol Cell Biol 2002;22:2159-69.

32. Singh B, Li X, Owens KM, Vanniarajan A, Liang P, Singh KK. Human REV3 DNA polymerase zeta localizes to mitochondria and protects the mitochondrial genome. PLoS One 2015;10:e0140409.

33. Vaccari CM, Tassano E, Torre M, et al. Assessment of copy number variations in 120 patients with Poland syndrome. BMC Med Genet 2016;17:89.

34. Halas A, Fijak-Moskal J, Kuberska R, et al. Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant. J Mol Med 2021;99:415-23.

35. Smedley D, Smith KR, Martin A, et al. 100,000 Genomes Project Pilot Investigators. 100,000 genomes pilot on rare-disease diagnosis in health care - preliminary report. N Engl J Med 2021;385:1868-80.

36. van der Zwaag B, Hellemons AJ, Leenders WP, et al. PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis. Dev Dyn 2002;225:336-43.

37. Glass GE, Mohammedali S, Sivakumar B, et al. Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review. BMC Pediatr 2022;22:745.

38. Tenney AP, Di Gioia SA, Webb BD, et al. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nat Genet 2023;55:1149-63.

39. Guimier A, de Pontual L, Braddock SR, et al. Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans. Hum Mol Genet 2023;32:353-6.

40. Seaby EG, Rehm HL, O’Donnell-Luria A. Strategies to uplift novel mendelian gene discovery for improved clinical outcomes. Front Genet 2021;12:674295.

41. Stark Z, Dolman L, Manolio TA, et al. Integrating genomics into healthcare: a global responsibility. Am J Hum Genet 2019;104:13-20.

42. Renault F, Flores-Guevara R, Baudon JJ, et al. Orofacial motor dysfunction in Moebius syndrome. Dev Med Child Neurol 2020;62:521-7.

43. Bains RD, Elbaz U, Zuker RM, Ali A, Borschel GH. Corneal neurotization from the supratrochlear nerve with sural nerve grafts: a minimally invasive approach. Plast Reconstr Surg 2015;135:397e-400e.

44. Bogart KR. “People are all about appearances”: a focus group of teenagers with Moebius syndrome. J Health Psychol 2015;20:1579-88.

45. Fattah A, Borschel GH, Manktelow RT, Bezuhly M, Zuker RM. Facial palsy and reconstruction. Plast Reconstr Surg 2012;129:340e-52e.

46. Johansson M, Wentz E, Fernell E, Strömland K, Miller MT, Gillberg C. Autistic spectrum disorders in Möbius sequence: a comprehensive study of 25 individuals. Develop Med Child Neuro 2001;43:338-45.

47. Scott AJ, Correa AB, Bisby MA, Dear BF. Depression and anxiety trajectories in chronic disease: a systematic review and meta-analysis. Psychother Psychosom 2023;92:227-42.