Diagnostic implications of associated defects in patients with typical orofacial clefts

Objectives: To describe prevalence of associated defects and clinical–genetic characteristics of patients with typical orofacial clefts seen at a reference genetic service. Methods: Descriptive study conducted between September of 2009 and July of 2014. Two experienced dysmorphologists personally collected and coded clinical data using a validated, standard multicenter protocol. Syndromic cases were defined by the presence of four or more minor defects, one or more major defects, or recognition of a specific syndrome. Fisher's exact and Kruskal–Wallis tests were used for statistics. Results: Among 141 subjects, associated defects were found in 133 (93%), and 84 (59.5%) were assigned as syndromic. Cleft palate was statistically associated with a greater number of minor defects (p