Physical and oral characteristics of fragile X syndrome: literature review

Giovana Badan Martins, Bruna Luiza Roim Varotto, Ana Eliza Durães de Faria, Rita de Cássia D´Ottaviano Nápole, Reynaldo Antequera

Abstract


Introduction: The fragile X syndrome is a genetic syndrome that mainly affects males. The name of this syndrome occurs as a consequence of a narrowing of the distal end of the long arm of the X chromosome, a site called the fragile site. This paper presents a review of the literature, presenting etiology, prevalence, diagnostic methods, behavioral characteristics, general physical characteristics and dental interest, as well as considerations about the care provided by the dentist in patients with fragile X syndrome. Literature review: The main behavioral characteristics are attention deficit, difficulty in social interaction, shyness, anxiety, emotional lability and stereotyped hand movements. The most prevalent findings of dental interest in the literature were the ogival palate, mandibular prognathism, macroglossia, enamel hypoplasia and malocclusion. Discussion: There were not many articles focused on facial and dental analysis of these patients. The care of this public is a challenge for the dentist due to the behavioral and physiological characteristics presented. Conclusion: professional knowledge of the characteristics of this syndrome is important, as the syndrome is commonly associated with systemic diseases that may influence the treatment plan, as well as major orofacial changes.

Keywords


Fragile x syndrome; Oral health; Autistic disorder

References


Ribate Molina MP, Pie Juste J, Ramos Fuentes FJ. Síndrome de X Frágil. Protoc diagn ter pediatr. 2010;1(1):85-90.

Alliende MA, Aravena T, Valiente A, Curotto B, Santa María V, Cortés F. Tamizaje clínico y análisis de mutaciones en el gen FMR1 en 99 varones con características clínicas del síndrome de X-frágil. Rev chil pediatr. 2006;77(1): 34-42.

Da Cunha ACB, Santo JGM. Educabilidade cognitiva de aluno com síndrome do X Frágil: um estudo de caso. Ciênc cogn. 2012;17(1):190-204.

de Vries BBA, Halley KJJ, Oostra BA, Niermeijer MF. The fragile X syndrome. J Med Genet. 1998;35:579-89.

Amaral COF, Sollitto KC, Santos TMD, Parizi AGS, Oliveira A, Straioto FG. Características físicas e bucais em pacientes portadores da Síndrome do X-Frágil. Rev Assoc Paul Cir Dent. 2012;66(2):128-35.

Félix TM, Pina-Neto JM. Fragile X syndrome: clinical and cytogenetic studies. Arq Neur-Psiquiatr. 1998;56(1):9-17.

Sabbagh-Haddad A, Haddad DS, Michel-Crosato E, Arita ES. Fragile X syndrome: panoramic radiographic evaluation of dental anomalies, dental mineralization stage, and mandibular angle. J Appl Oral Sci. 2016;24(5):518-23.

Pimentel MMG. Fragile “X” syndrome: molecular diagnosis. J Bras Patol. 1999;35(2):94-8.

Floriani MA, Boas MRV, Rosa RFM, Trevisan P, Dorfman LE, Rosa R, et al. Report of a patient with fragile X syndrome unexpectedly identified by karyotype analysis. J Bras Patol Med Lab. 2017;53(2):108-9.

Scully C. Fragile X (Martin Bell) syndrome. Dent Update. 2002;29(4):196-8.

Yonamine SM, Silva AA. Características da comunicação em indivíduos com a síndrome do X Frágil. Arq Neuro-Psiquiatr. 2002;60(4):981-5.

Kulkarni GV, Levine N. Fragile X (Martin-Bell) syndrome. Spec Care Dent. 1994;14(1):21-5.

Amaral LR, Melo HCS. Síndrome do X frágil: breve revisão e relato de caso. Evidência. 2017;17(2):135-50.

Amaral COFD, Straioto FG, Napimoga MH, Martinez EF. Caries experience and salivary aspects in individuals with fragile X syndrome. Braz Oral Res. 2017 Sep;31:e79.

Ray P, Singh A, Dash JK, Sahoo PK, Dash JK. Fragile X Syndrome: a rare case report with unusual oral features. Contemp Clin Dent. 2017;8(4):650-2.

Kotilainen J, Pirinen S. Dental maturity is advanced in fragile X syndrome. Am J Med Gen. 1999;83(4):298-301.

Boy R, Correa PS, Llerena JC, Machado-Ferreira MC, Pimentel MMG. Síndrome do X frágil: estudo caso-controle envolvendo pacientes pré e pós-puberais com diagnóstico confirmado por análise molecular. Arq Neuropsiquiatr. 2001;59(1):83-8.

Melo JRT, Neto JSF, Araújo RO, Ribeiro RA, Jurubeba LMS, Botelho KVG, et al. Síndrome do X Frágil: considerações genéticas moleculares e características físicas e bucais de interesse ao cirurgião dentista. Cienc Biol Saúde. 2015;2(1):83-90.

França DCC, Maria DMC, Correa IPC, Aburad ATT, Aguiar SMHCA. Síndrome do X frágil: relato de caso. Revista Faipe. 2001;1(1):1-5.




DOI: https://doi.org/10.22456/2177-0018.99833

Licença Creative Commons

e-ISSN 2177-0018 / ISSN 0566-1854.

descrição da foto descrição da foto descrição da foto descrição da foto descrição da foto descrição da foto descrição da fotodescrição da foto