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. 2023 Dec 18;46(4):e20230167.
doi: 10.1590/1678-4685-GMB-2023-0167. eCollection 2023.

How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil?

Marina Cristine Cano Francisquetti  1 , Vera Lúcia Gil-da-Silva-Lopes  2 , Agnes Cristina Fett-Conte  3
Affiliations

How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil?

Marina Cristine Cano Francisquetti et al. Genet Mol Biol. .

Abstract

Characterization of specific birth defects is essential for conducting scientific investigations, care and therapeutic strategies. This article describes demographic, clinical and genetic aspects, risk factors and access to treatment of Brazilian patients with orofacial clefts registered in a specialized collaborative center of the Brazilian Database on Craniofacial Anomalies (BDCA). We interviewed 70 individuals with typical orofacial clefts using a standard instrument from the database and subjected them to genetic testing. The patients were grouped as syndromic and non-syndromic. The majority of individuals were of lower middle class, native ancestry and syndromic. There was a significant difference in the type of clefts regarding gender. There was no significant difference between bilateral and unilateral, between the side affected, right and left, or familial recurrence related to type of oral cleft. The risk factor familial recurrence was significantly higher among non-syndromic cases. Etiological factors were identified or suggested in 62.5% of the syndromic cases. There was a delay in diagnosis and in access to treatment in most cases. We concluded that gender, native ancestry and low family income represent risk factors. Furthermore, the distribution by cleft types and gender is similar to previous studies. The results can guide scientific investigations and care policies.

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Conflict of interest statement

Conflict of Interest: The authors declare that no conflict of interest could be perceived as prejudicial to the impartiality of the reported research.

Figures

Figure 1 -
Figure 1 -. Map of the state of São Paulo highlighting the region of São José do Rio Preto and the main towns where the 70 individuals under study live. The size of the circle is proportional to the number of cases.
See this image and copyright information in PMC

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References

    1. Alfwaress FSD, Khwaileh FA, Rawashdeh MA, Alomari MA, Nazzal MS. Cleft lip and palate: Demographic patterns and the associated communication disorders. J Craniofac Surg. 2017;28:2117–2121. - PubMed
    1. Amstalden-Mendes LG, Magna LA, Gil-da-Silva-Lopes VL. Neonatal care of infants with cleft lip and/or palate: Feeding orientation and evolution of weight gain in a Nonspecialized Brazilian Hospital. Cleft Palate Craniofac J. 2007;44:329–334. - PubMed
    1. Amstalden-Mendes LG, Xavier AC, Antunes DK, Ferreira AC, Tonocchi R, Fett-Conte AC, Silva RN, Leirião VH, Caramori LP, Magna LA, et al. Time of diagnosis of oral clefts: A multicenter study. J Pediatr (Rio J) 2011;87:225–230. - PubMed
    1. Beaty TH, Marazita ML, Leslie EJ. Genetic factors influencing risk to orofacial clefts: Today’s challenges and tomorrow’s opportunities. F1000 Res. 2016;5:2800 - PMC - PubMed
    1. Blanco R, Chakraborty R, Barton SA, Carreño H, Paredes M, Jara L, Palomino H, Schull WJ. Evidence of a sex-dependent association between the MSX1 Locus and Nonsyndromic Cleft Lip with or without Cleft Palate in the Chilean Population. Hum Biol. 2001;73:81–89. - PubMed

Internet Resources

    1. BCFP Brazil’s Craniofacial Project. 2022. [1 December 2022]. BCFP (2022) Brazil’s Craniofacial Project, https://www.fcm.unicamp.br/fcm/cranio-face-brasil/projeto-cranio-face-br... .
    1. CNES - Cadastro Nacional de Estabelecimentos de Saúde Indicadores Habilitações, Habilitações - 0401 - Centro de tratamento da má formação labio palatal. 2022. [10 October 2022]. CNES - Cadastro Nacional de Estabelecimentos de Saúde (2022), Indicadores Habilitações, Habilitações - 0401 - Centro de tratamento da má formação labio palatal, http://cnes2.datasus.gov.br/Mod_Ind_Habilitacoes_Listar.asp?VTipo=0401&V... .
    1. DRSXV - Divisão Regional de Saúde XV DRS XV - São José do Rio Preto, Secretaria de Estado da Saúde. 2019. [19 September 2019]. DRSXV - Divisão Regional de Saúde XV (2019), DRS XV - São José do Rio Preto, Secretaria de Estado da Saúde, http://www.saude.sp.gov.br/ses/institucional/departamentos-regionais-de-... .
    1. Hospital de Base de São José do Rio Preto 2018. [25 January 2022]. Hospital de Base de São José do Rio Preto (2018), http://www.hospitaldebase.com.br/index .
    1. HPO - Human Phenotype Ontology The Human Phenotype Ontology. 2022. [21 March 2022]. HPO - Human Phenotype Ontology, The Human Phenotype Ontology (2022), https://hpo.jax.org/app/