Implementing the Brazilian Database on Orofacial Clefts

الملخص EN

Background.

High-quality clinical and genetic descriptions are crucial to improve knowledge of orofacial clefts and support specific healthcare polices.

The objective of this study is to discuss the potential and perspectives of the Brazilian Database on Orofacial Clefts.

Methods.

From 2008 to 2010, clinical and familial information on 370 subjects was collected by geneticists in eight different services.

Data was centrally processed using an international system for case classification and coding.

Results.

Cleft lip with cleft palate amounted to 198 (53.5%), cleft palate to 99 (26.8%), and cleft lip to 73 (19.7%) cases.

Parental consanguinity was present in 5.7% and familial history of cleft was present in 26.3% subjects.

Rate of associated major plus minor defects was 48% and syndromic cases amounted to 25% of the samples.

Conclusions.

Overall results corroborate the literature.

Adopted tools are user friendly and could be incorporated into routine patient care.

The BDOC exemplifies a network for clinical and genetic research.

The data may be useful to develop and improve personalized treatment, family planning, and healthcare policies.

This experience should be of interest for geneticists, laboratory-based researchers, and clinicians entrusted with OC worldwide.