Ontology highlight
ABSTRACT: Objective
This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs).Methods
The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-syndromic oral clefts [NSOCs]) as well as individuals with OC presenting at least another major defect, regardless of the number of minor signs (syndromic oral clefts [SOCs]). The exclusion criteria included NSOC with less than four minor signs, SOC with known etiology, as well as atypical oral clefts.Results
Of 1647 individuals with OC recorded in the Brazilian Database of Craniofacial Anomalies, 100 individuals were selected for chromosome microarray analysis (CMA). Among these, 44 individuals were clinically classified as NSOC and 56 as SOC. CMA was performed for both groups, and abnormal CMA was identified in 9%, all previously classified as SCO. The clinical and CMA data analyses showed a significant predominance of abnormal CMA in individuals classified as SOC (p = 0.0044); prematurity, weight, length, and head circumference at birth were significantly lower in the group with abnormal CMA. Besides, minor signs were significantly higher in this group (p = 0.0090).Conclusion
The rigorous selection of cases indicates that the significant variables could help in early recognition of SOC. This study reinforces the importance of applying the CMA technique to establish the diagnosis of SOC. This is an important and universal issue in clinical practice for intervention, care, and genetic counseling.
SUBMITTER: Lustosa-Mendes E
PROVIDER: S-EPMC9432012 | biostudies-literature | 2021 May-Jun
REPOSITORIES: biostudies-literature
Lustosa-Mendes Elaine E Santos Ana P Dos APD Vieira Társis P TP Ribeiro Erlane M EM Rezende Adriana A AA Fett-Conte Agnes C AC Cavalcanti Denise P DP Félix Têmis M TM Monlleó Isabella L IL Gil-da-Silva-Lopes Vera Lúcia VL
Jornal de pediatria 20200721 3
<h4>Objective</h4>This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs).<h4>Methods</h4>The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-syndromic oral clefts [NSOCs]) as well as individuals with OC presenting at least another major defect, regardless of the number of minor signs (syndromic oral clefts [SOCs]). The exclusion criteria included NSOC with less than four mino ...[more]