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Anales de Otorrinolaringología Mexicana

2023, Number 3

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Otorrinolaringología 2023; 68 (3)

Malformations of first and second branchial arches. Embryological and genetic concepts and patient follow-up guidelines

Solorio FJ, Martínez MJ, Peñuelas RJK, Ibarra CJ, Chávez ME, Arenas SML

Language: Spanish
References: 61
Page: 107-138
PDF size: 577.98 Kb.


ABSTRACT

Congenital malformations are those present at birth. Their prevalence ranges are 4.7 to 6.4%. Craniofacial defects are an important part of congenital malformations with high structural and functional complexity. They are very common, approximately 75% of human birth defects and 0.1 to 0.3% of all births. Each branchial arch is formed by a central nucleus of mesodermal tissue (which will form the muscles of the face and neck), covered on its outer side by superficial ectoderm, and lined on the inside by epithelium of endodermal origin. On the central part of the arches will migrate an abundant number of neural crest cells, which will constitute the skeletal components. Each arch will have its own muscular and arterial component and its own nerve. Craniofacial malformations can be classified in different ways. Depending on the anatomical location, they have been classified into anomalies of the first, second, third, and fourth arches. Second branchial arch anomalies are the most common, approximately 95% of cases. The craniofacial complex develops as a consequence of complex interactions with precise regulation. Several molecular pathways and numerous genes are involved in this development, such as transcription factors, growth factors, and receptors. Two of the most common are cleft lip with or without cleft palate and facio-auriculo-vertebral spectrum. In both, different types of inheritance can be considered, when they are isolated, multifactorial inheritance is probably more frequent. It is necessary to offer an interdisciplinary management and have a constant follow-up to solve the problems that arise.


REFERENCES

  1. Organización Mundial de la Salud. Trastornos congénitos. 2023. Recuperado de: https://www.who.int/es/newsroom/fact-sheets/detail/congenital-anomalies.

  2. García H. Major congenital malformations: the needfor multidisciplinary management. Rev Mex Pediatr.2018;85(3):81-82.

  3. Geneti SA, Dimsu GG, Sori DA, Amente LD, Kurmane ZM.Prevalence and patterns of birth defects among newbornsin southwestern Ethiopia: a retrospective study. Pan Afr MedJ 2021; 40: 248. doi: 10.11604/pamj.2021.40.248.25286.

  4. Día Mundial de los Defectos Congénitos: OPS pide asegurarla prevención y el tratamiento oportuno de las anomalíascongénitas en las Américas. Paho.org. Available from:https://www.paho.org/es/noticias/3-3-2022-dia-mundialdefectos-congenitos-ops-pide-asegurar-prevenciontratamiento-oportuno.

  5. Los defectos congénitos causan hasta un 21% de lasmuertes de menores de 5 años en América Latina. NoticiasONU. 2020. Available from: https://news.un.org/es/story/2020/03/1470491.

  6. Características de las defunciones registradas en Méxicodurante 2019. Instituto Nacional de Estadística y Geografía.Comunicado de prensa núm. 480/20.

  7. Cordero DR, Brugmann S, Chu Y, Bajpai R, Jame M, HelmsJA. Cranial neural crest cells on the move: their roles incraniofacial development. Am J Med Genet A 2011; 155A(2): 270-9. doi: 10.1002/ajmg.a.33702.

  8. Siismets EM, Hatch NE. Cranial neural crest cells and theirrole in the pathogenesis of craniofacial anomalies andcoronal craniosynostosis. J Dev Biol 2020; 8 (3): 18. doi:10.3390/jdb8030018.

  9. Dworkin S, Boglev Y, Owens H, Goldie SJ. The role of sonicHedgehog in craniofacial patterning, morphogenesis andcranial neural crest survival. J Dev Biol 2016; 4 (3): 24.https://doi.org/10.3390/jdb4030024.

  10. Gobierno de México. (2021). Sistema de Vigilancia Epidemiológicade Defectos del Tubo Neural y CraneofacialesTercer Trimestre del 2021. de Secretaría de Salud y laDirección General de Epidemiología Sitio web:https://www.gob.mx/cms/uploads/attachment/file/673136/InformeTercerTrimestre2021DTNyDCF.pdf.

  11. Creuzet SE, Martinez S, Le Douarin NM. The cephalic neuralcrest exerts a critical effect on forebrain and midbrain development.Proc Natl Acad Sci USA 2006; 103 (38): 14033-8.http://dx.doi.org/10.1073/pnas.0605899103.

  12. Abramyan J, Richman JM. Craniofacial development: discoveriesmade in the chicken embryo. Int J Dev Biol 2018; 62(1-2-3): 97-107. http://dx.doi.org/10.1387/ijdb.170321ja.

  13. Kuratani S, Kusakabe R, Hirasawa T. The neural crest andevolution of the head/trunk interface in vertebrates.Dev Biol 2018; 444: S60-6. http://dx.doi.org/10.1016/j.ydbio.2018.01.017.

  14. Rojo DMT, Turpín JMI. Embriología, anatomía topográficay anatomía quirúrgica de las regiones cérvico-faciales.Seorl.net. https://seorl.net/PDF/cabeza%20cuello%20y%20plastica/121%20-%20EMBRIOLOG%C3%8DA,%20ANATOM%C3%8DA%20TOPOGR%C3%81FICA%20Y%20ANATOM%C3%8DA%20QUIR%C3%9ARGICA%20DE%20LAS%20REGIONES%20C%C3%89RVICO-FACIALES.pdf?boxtype=pdf&g=false&s=false&s2=false&r=wide.

  15. Alappat S, Zhang ZY, Chen YP. Msx homeobox gene familyand craniofacial development. Cell Res 2003; 13 (6): 429-42. http://dx.doi.org/10.1038/sj.cr.7290185.

  16. Roth DM, Bayona F, Baddam P, Graf D. Craniofacial development:neural crest in molecular embryology. HeadNeck Pathol 2021; 15 (1): 1-15. doi: 10.1007/s12105-021-01301-z.

  17. Tiwari S, Kulkarni A, Gupta A, Kothari P. Bilateral branchialarch anomaly: a rare case report. Int Surg J 2020; 7 (8):2879. http://dx.doi.org/10.18203/2349-2902.isj20203280.

  18. Palafox D, Ogando-Rivas E, Herrera-Rodríguez DL, QueipoG. Malformaciones craneofaciales. De las bases molecularesal tratamiento quirúrgico. Rev Med Hosp Gen Méx2012; 75 (1): 50-59.

  19. Johnston MC, Bronsky PT. Prenatal craniofacial development:new insights on normal and abnormal mechanisms.Crit Rev Oral Biol 1995; 6 (4): 368-422. http://dx.doi.org/10.1177/10454411950060040601.

  20. Tirado-Pérez IS, Sequeda-Monterroza JF, Zarate-VergaraAC. Craneosinostosis: Revisión de literatura. Rev Univ Salud2016; 18 (1): 182-189.

  21. Parada C. Evolución y desarrollo facial: perspectiva molecular.Univ Odontol 2009; 28 (61): 75-85.

  22. Deshpande AS, Goudy SL. Cellular and molecular mechanismsof cleft palate development: CLP Development.Laryngoscope Investig Otolaryngol 2019; 4 (1): 160-4.http://dx.doi.org/10.1002/lio2.214.

  23. Navarrete-Hernández E, Canún-Serrano S, Valdés-Hernández J, Ae RP. Prevalencia de labio hendido con osin paladar hendido en recién nacidos vivos. México. RevMex Pediatr 2008; 84 (3): 101-10.

  24. Salud bucodental. Who.int. Available from: https://www.who.int/es/news-room/fact-sheets/detail/oral-health.

  25. Palmero Picazo J, Rodríguez Gallegos MF. Labio y paladarhendido. Conceptos actuales. Acta Médica Grupo Ángeles2019; 17 (4): 372-379.

  26. Lombardo-Aburto E. La intervención del pediatra enel niño con labio y paladar hendido. Acta Pediátr Méx2017; 38 (4): 267. http://dx.doi.org/10.18233/apm-38no4pp267-2731435.

  27. Deshpande AS, Goudy SL. Cellular and molecular mechanismsof cleft palate development. Laryngoscope InvestigOtolaryngol 2016; 1 (3): 49-56. http://dx.doi.org/10.1002/lio2.21.

  28. Lema Knezevich RA, Godoy Cárdenas MJ, Rodríguez BarahonaRE, Martínez Soto JE, Jadán Cumbe AM. Aproximaciónintegradora a la etiología genética del labio y paladarhendido. Arch Venez Farmacol Ter 2019; 38 (2): 93-7.

  29. Setó-Salvia N, Stanier P. Genetics of cleft lip and/or cleft palate:association with other common anomalies. Eur J MedGenet 2014; 57 (8): 381-93. http://dx.doi.org/10.1016/j.ejmg.2014.04.00.

  30. Worley ML, Patel KG, Kilpatrick LA. Cleft lip and palate. ClinPerinatol 2018; 45 (4): 661-78. http://dx.doi.org/10.1016/j.clp.2018.07.006.

  31. Leslie EJ, Marazita ML. Genetics of cleft lip and cleft palate.Am J Med Genet C Semin Med Genet 2013; 163C (4): 246-58. doi: 10.1002/ajmg.c.31381.

  32. Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. Cleftlip and palate. Lancet 2009; 374 (9703): 1773-85. doi:10.1016/S0140-6736(09)60695-4.

  33. Nasreddine G, El Hajj J, Ghassibe-Sabbagh M. Orofacialclefts embryology, classification, epidemiology, and genetics.Mutat Res Rev Mutat Res 2021; 787 (108373): 108373.http://dx.doi.org/10.1016/j.mrrev.2021.108373.

  34. Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A,Helms JA, et al. Mutations of PVRL1, encoding a cell-celladhesion molecule/herpesvirus receptor, in cleft lip/palateectodermaldysplasia. Nat Genet 2000; 25 (4): 427-30.http://dx.doi.org/10.1038/78119.

  35. Leslie EJ, Carlson JC, Shaffer JR, Buxó CJ, Castilla EE, ChristensenK, Deleyiannis FWB, Field LL, Hecht JT, MorenoL, Orioli IM, Padilla C, Vieira AR, Wehby GL, Feingold E,Weinberg SM, Murray JC, Marazita ML. Association studiesof low-frequency coding variants in nonsyndromic cleft lipwith or without cleft palate. Am J Med Genet A 2017; 173(6): 1531-1538. doi: 10.1002/ajmg.a.38210.

  36. Sánchez Peña MK, Galvis Aricapa JA. Anomalías dentalesde los pacientes con labio y paladar hendido: revisión dela literatura. Rev Nac Odontol 2019; 15 (29): 1-17. https://doi.org/10.16925/2357-4607.2020.01.04.

  37. Pons-Bonals A, Pons-Bonals L, Hidalgo-Martínez SM, Sosa-Ferreyra CF. Estudio clínico-epidemiológico en niños conlabio paladar hendido en un hospital de segundo nivel. BolMed Hosp Infant Mex 2017; 74 (2): 107-121. https://doi.org/10.1016/j.bmhimx.2016.11.008.

  38. Amlani Girish N. Art and science of cleft lip and cleft palaterepair. Jaypee Brothers Medical Publishers (P) Ltd. 2018.Capítulo 5. https://doi.org/10.5005/jp/books/13096_6.

  39. Lozano C, Teodoro D. Factores de riesgo asociados a labioleporino y paladar hendido en neonatos en el hospitalapoyo Iquitos, en el año 2015-2017, Loreto. Universidadde la Amazonía Peruana; 2018.

  40. Bedon Rodriguez M, Villota Gonzales LG. Labio y paladarhendido: tendencias actuales en el manejo exitoso. ArchMed (Manizales) 2011; 12 (1): 107-19.

  41. Yates D, Allareddy V, Caplin J, Yadav S, Markiewicz MR. Anoverview of timeline of interventions in the continuum ofcleft lip and palate care. Oral Maxillofac Surg Clin NorthAm. 2020; 32 (2): 177-86. http://dx.doi.org/10.1016/j.coms.2020.01.001.

  42. Murthy J. Burden of care: Management of cleft lip andpalate. Indian J Plast Surg 2019; 52: 343-348. http://dx.doi.org/10.1055/s-0039-3402353.

  43. Ashraf M, Aslam M. Timeline of management of cleft palatepatient. Surgical Atlas Cleft Palate Palatal Fistulae 2022.https://doi.org/10.1007/978-981-15-8124-3_24.

  44. Berraquero Delgado R, Redondo Alamillos M, RomanceGarcía A, Wucherpfennig Gaminde B, Zarco Sánchez-BruneteA. Microsomía craneofacial: diagnóstico, clasificaciónclínica y planificación terapéutica. Ortod Esp 2018; 56 (1).

  45. Spineli-Silva S, Sgardioli IC, Dos Santos AP, Bergamini LL,Monlleó IL, Fontes MIB, et al. Genomic imbalances incraniofacial microsomia. Am J Med Genet C Semin MedGenet 2020; 184 (4): 970-85. http://dx.doi.org/10.1002/ajmg.c.31857.

  46. Munoz-Pedroza LA, Arenas-Sordo ML. Manifestacionesclínicas de 149 pacientes con espectro facio-aurículovertebral.Acta Otorrinolaringol Esp 2013; 64 (5): 359-62.http://dx.doi.org/10.1016/j.otorri.2013.03.007.

  47. Arenas-Sordo ML, Cruz-Ugalde CI, Linares-Mendoza EP,Peñuelas-Romero JK, Aldape-Barrios BC. Clinical facialstudy of the parents of children with OAV (oculo-auriculovertebral)syndrome. Cases and controls. Int J OtolaryngolHead Neck Surg 2020; 9: 53-60. https://doi.org/10.4236/ijohns.2020.92008.

  48. Cazenave L, Leiva N, Morovic CG. Síndrome de Goldenhary microsomía hemifacial. Revisión de la literatura. OdontolSanmarquina 2017; 20 (2): 79. http://dx.doi.org/10.15381/os.v20i2.13935.

  49. Tingaud-Sequeira A, Trimouille A, Marlin S, López E, BerenguerM, Gherbi S, et al. Functional and genetic analyses ofZYG11B provide evidences for its involvement in OAVS. MolGenet Genomic Med 2020; 8 (10): e1375. http://dx.doi.org/10.1002/mgg3.1375.

  50. Nassereldine H, Zgheib H, Mobarak HA. Goldenhar syndrome:Case Report. Clin Image Case Rep J 2022; 4 (4): 230.

  51. Schmitzer S, Burcel M, Dăscălescu D, Popteanu IC.Goldenhar syndrome - ophthalmologist’s perspective.Rom J Ophthalmol 2018; 61 (2): 96-104. http://dx.doi.org/10.22336/rjo.2018.15.

  52. Véliz S, Agurto P, Leiva N. Microsomía hemifacial. Revisiónde la literatura. Rev Fac Odontol Univ Antioq 2016; 27 (2):404-424. http://dx.doi.org/10.17533/udea.rfo.v27n2a9.

  53. Tingaud-Sequeira A, Trimouille A, Sagardoy T, LacombeD, et al. Oculo-auriculo-vertebral spectrum: new genesand literature review on a complex disease. J Med Genet2022; 59: 417-427. doi:10.1136/jmedgenet-2021-108219.

  54. Birgfeld CB, Luquetti DV, Gougoutas AJ, Bartlett SP, Low DW,Sie KCY, et al. A phenotypic assessment tool for craniofacialmicrosomia. Plast Reconstr Surg 2011; 127 (1): 313-20.http://dx.doi.org/10.1097/PRS.0b013e3181f95d15.

  55. Barisic I, Odak L, Loane M, Garne E, Wellesley D, Calzolari E,et al. Prevalence, prenatal diagnosis and clinical features ofoculo-auriculo-vertebral spectrum: a registry-based studyin Europe. Eur J Hum Genet 2014; 22 (8): 1026-33. http://dx.doi.org/10.1038/ejhg.2013.287.

  56. Renkema, R. Caron C, Heike CL, Koudstaal MJ. A decadeof clinical research on clinical characteristics, medicaltreatments, and surgical treatments for individuals withcraniofacial microsomia: What have we learned? JPRAS2022; 75; 6: 1781-1792. https://doi.org/10.1016/j.bjps.2022.02.058.

  57. Hopkins B, Dean K, Appachi S, Drake A. Craniofacial interventionsin children. Otolaryngol Clin North America 2019;52 (5): 903-922. https://doi.org/10.1016/j.otc.2019.06.002

  58. Singhal D, Tripathy K. Oculo auriculo vertebral spectrum.InStatPearls 2022. StatPearls Publishing.

  59. Chen J, Kanekar S. Imaging of congenital craniofacial anomaliesand syndromes. Clin Perinatol 2022; 49 (3): 771-790.https://doi.org/10.1016/j.clp.2022.04.005.

  60. Caron C, Pluijmers B, Maas B, Klazen Y, et al. Obstructivesleep apnoea in craniofacial microsomia: analysis of 755patients. Int J Oral Maxillofacial Surg 2017; 46 (10): P1330-1337. https://doi.org/10.1016/j.ijom.2017.05.020.

  61. Arenas-Sordo ML. Cap.14 Asesoramiento genético. Gutierrez-Tinajero DJ, Arenas-Sordo ML. Genética y audiología. Fundamentosclínicos y rehabilitación del paciente con trastornosauditivos de origen genético. México: Trillas, 2012: 131-134.




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