Diagnostic implications of associated defects in patients with typical orofacial clefts

Abstract

There is a lack of information on syndromic clefts. The classification system for phenotype assignment adopted in this study has facilitated recognition of high prevalence of associated defects and syndromic cases. This system may be a useful strategy to gather homogeneous samples, to elect appropriate technologies for etiologic and genotype-phenotype approaches, and to assist with multiprofessional care and genetic counseling.

Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome

“…The method may be useful in training programs for professionals of different backgrounds. This study can be replicated in different populations, reinforcing the importance of a dysmorphological approach for diagnosis, genetic counseling, and intervention (Monlleó et al, 2015).…”

Fendas Orais no Sistema Único de Saúde – Alagoas: Definição de modelo para referência e contrarreferência em genética

“…A frequência de baixo peso ao nascer não diferiu entre os grupos (p<0,07), contudo a média de peso ao nascer foi significativamente mais baixa no grupo de FO sindrômica (p<0,001), conforme observado em outros estudos 10, 12,15 .…”

Prevalence of cleft lip and palate and associated factors in Brazil's Midwest: a single-center study

“…Minor defects comprise morphological abnormalities with no significant aesthetic or functional damage, whereas major defects include microcephaly, microtia, syndactyly, hydrocephalus, and others that do not fit into the category of minor defects. 29 The clefts were classified according to the types described in the Spina et al 14 classification, modified and updated by Silva Filho et al 30 as cleft lip, cleft palate, cleft lip and palate or rare cleft, and sub-classified as complete or incomplete, and unilateral (right or left side), bilateral or median. Although the submucous cleft belongs to the CP group, it was quantified separately in the present study.…”