2020, Number 1
<< Back Next >>
Rev Odotopediatr Latinoam 2020; 10 (1)
Rubinstein-Taybi syndrome: A case report with 7-year follow-up
Cavalcanti MOS, Campos BR, Araujo LLG, Bissoto CAF, Kerber TT, Pettorossi IJC
Language: Spanish
References: 21
Page: 102-110
PDF size: 617.19 Kb.
ABSTRACT
Rubinstein-Taybi syndrome (RTS) is a rare congenital anomaly of uncertain etiology. Its incidence ranges from 1:100,000 to 300,000 births. The objective of this case report was to describe the orofacial findings and a 7-year follow-up of a male patient diagnosed with RTS. The main orofacial features observed include: antimongoloid slant, beaked nose, low set large ears, short stature, large amount of hair, limited mouth opening, angular cheilitis, narrow and deep palate, dental crowding, bilateral posterior crossbite, deciduous molar hypomineralization (DMH), molar incisor hypomineralization (MIH), poor oral hygiene, presence of supra-gingival calculi, gingivitis and a large number of active carious lesions. RTS has many orofacial manifestations and knowledge of this syndrome can help in proper diagnosis and early treatment. Dental appointments at shorter time intervals help in conditioning the patient and reduce the risk of caries lesions and periodontal problems.
REFERENCES
Rubinstein JH. Broad Thumb-Hallux (Rubinstein-Taybi) Syndrome 1957-1988. Am J Med Genet Suppl 1990;6:3-16.
Freitas NM, Imbronito AV, La Scala CSK, Lotufo RFM, Pustiglioni FE. Periodontal disease in a Rubinstein–Taybi syndrome patient: case report. Int J Paediatr Dent 2006;16:292–296.
Morales-Chávez MC. Gestão dental de um paciente com a síndrome de Rubinstein–Taybi. Spec Care Dentist 2010;30(3):124-126.
Hennekam RCM. Rubinstein–Taybi syndrome. Eur J Hum Genet 2006;14:981–985.
Artsbrasil.org.br (homepage on the internet). São Paulo: Associação Brasileira dos Familiares e Amigos dos Portadores da Síndrome de Rubisntein-Taybi. Avaliable from: http://www.artsbrasil.org.br/.
Bloch-Zupan A, Stachtou J, Emmanouil D, Arveiler B, Griffiths D, Lacombe D. Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome. Am J Med Genet Part A 2007;143A:570–573.
López M, García-Oguiza A, Armstrong J, García-Cobaleda I, García-Miñaur S, Santos-Simarro F, et al. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum. BMC Med Genet. 2018 Mar 5;19(1):36.
Wincent J, Luthman A, van Belzen M, van der Lans C, Albert J, Nordgren A, et al. CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. Mol Genet Genomic Med. 2015 Sep 22;4(1):39-45.
Hennekam RC, Van Doorne JM. Oral aspects of Rubinstein-Taybi syndrome. Am J Med Genet Suppl 1990;6:42-47.
Davidovich E, Eimerl D, Peretz B. Dental treatment of a child with RubinsteinTaybi syndrome. Pediatr Dent 2005;27:385-88.
Roberts TS, Chetty M, Stephen L, Urban M, Fieggen K, Beighton P. Rubinstein-Taybi syndrome: Dental manifestations and management. SAJCH 2014;8(1):28–30.
Galéra C, Taupiac E, Fraisse S, Naudion S, Toussaint E, Rooryck-Thambo C, et al. Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome. J Autism Dev Disord 2009;39(9):1252-60.
Gardner DG, Girgis SS. Talon cusps: a dental anomaly in the Rubinstein-Taybi syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1979;47:519-21.
Ezoddini AF, Sheikhha MH, Ahmadi H. Prevalence of dental developmental anomalies: a radiographic study. Community Dent Health. 2007 Sep;24(3):140-4. 15. Guven Y, Kasimoglu Y, Tuna EB, Aktoren O. Prevalence and characteristics of talon cusps in Turkish population. Dent Res J. 2016 Mar-Apr;13(2):145-50.
Prabhu RV, Rao PK, Veena K, Shetty P, Chatra L, Shenai P. Prevalence of Talon cusp in Indian population. J Clin Exp Dent. 2012 Feb 1;4(1):e23-7.
Saberbein JAR, Medina RPPS, Pucumucha RCP, Samaniego UMG. Rubinstein-Taybi syndrome, medical and dental care for special needs patients: clinical case report. Rev Odont Mex 2016;20(3):196-201.
Oliveira CRD, Elias L. Anestesia em Paciente com Síndrome de Rubinstein-Taybi. Relato de Caso. Rev Bras Anestesiol 2005;55(5):546-551.
Tirali RE, Sar C, Cehreli SB. Oro-Facio-Dental Findings of Rubinstein-Taybi Syndrome as a Useful Diagnostic Feature. J Clin Diagn Res 2014;8(1):276-278.
Brasil. Ministério da Saúde. Secretaria de Atenção à Saúde. Secretaria de Vigilância em Saúde. SB Brasil 2010: Pesquisa Nacional de Saúde Bucal: resultados principais / Ministério da Saúde. Secretaria de Atenção à Saúde. Secretaria de Vigilância em Saúde. – Brasília: Ministério da Saúde, 2012.
Yagihashi T, Kosaki K, Okamoto, N, Mizuno S, Kurosawa K, Takahashi T et al. Mudança dependente da idade na característica comportamental na síndrome de Rubinstein-Taybi. Congenit Anom 2012;52, 82–86.
Gunashekhar M, Hameed MS, Bokhari SK. Oral and Dental Manifestations in Rubinstein-Taybi Syndrome: Report of a Rare Case. Prim Dent Care 2012;19(1):35-38.