How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil?
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...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2023-12-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000700101&lng=en&tlng=en |
| _version_ | 1827579719994834944 |
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| author | Marina Cristine Cano Francisquetti Vera Lúcia Gil-da-Silva-Lopes Agnes Cristina Fett-Conte |
| author_facet | Marina Cristine Cano Francisquetti Vera Lúcia Gil-da-Silva-Lopes Agnes Cristina Fett-Conte |
| author_sort | Marina Cristine Cano Francisquetti |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T22:08:05Z |
| format | Article |
| id | doaj.art-0fd315e8b2b74ff5ac857fd90784d50d |
| institution | Directory Open Access Journal |
| issn | 1678-4685 |
| language | English |
| last_indexed | 2024-03-08T22:08:05Z |
| publishDate | 2023-12-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-0fd315e8b2b74ff5ac857fd90784d50d2023-12-19T07:49:39ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852023-12-0146410.1590/1678-4685-gmb-2023-0167How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil?Marina Cristine Cano FrancisquettiVera Lúcia Gil-da-Silva-LopesAgnes Cristina Fett-Contehttps://orcid.org/0000-0001-6260-5038Abstract 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000700101&lng=en&tlng=enCleft lipcleft palatehealth care |
| spellingShingle | Marina Cristine Cano Francisquetti Vera Lúcia Gil-da-Silva-Lopes Agnes Cristina Fett-Conte How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil? Genetics and Molecular Biology Cleft lip cleft palate health care |
| title | How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil? |
| title_full | How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil? |
| title_fullStr | How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil? |
| title_full_unstemmed | How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil? |
| title_short | How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil? |
| title_sort | how are people with orofacial clefts attended in northwest region of sao paulo state brazil |
| topic | Cleft lip cleft palate health care |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000700101&lng=en&tlng=en |
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