Diagnostic implications of associated defects in patients with typical orofacial clefts
Journal Title: Jornal de Pediatria - Year 2015, Vol 91, Issue 5
Abstract
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<0.0012) and syndromic assignment (p<0.001). Syndromic group was associated with low birth weight (p<0.04) and less access to surgical treatment (p<0.002). There was no statistical difference between syndromic and non-syndromic groups regarding gender (p<0.55), maternal age of 35 years and above (p<0.50), alcohol (p<0.50) and tobacco consumption (p<0.11), consanguinity (p<0.59), recurrence (p<0.08), average number of pregnancies (p<0.32), and offspring (p<0.35). Conclusions 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.
Authors and Affiliations
Isabella Monlleó
Keywords
Related Articles
- EP ID EP556140
- DOI 10.1016/j.jped.2014.12.001
- Views 81
- Downloads 0
Maternal depression and anxiety and fetal-neonatal growth
Objective Maternal depression and anxiety have been found to negatively affect fetal and neonatal growth. However, the independent effects of maternal depression and anxiety on fetal-neonatal growth outcomes and trajecto...
Administering surfactant without intubation – what does the laryngeal mask offer us?
In our management of the preterm infant in need of respiratory support, we are currently grappling with competing priorities. Avoiding intubation at the beginning of life (other than for advanced resuscitation) appears t...
Comparison of biochemical and immunological profile of pediatric patients with acute myeloid leukemia in relation to healthy individuals
Objective To compare the biochemical and immunological profiles of pediatric patients with acute myeloid leukemia (AML) with healthy children and adolescents. Methods This was a cross-sectional study in which 21 therapy...
Probiotics for the treatment of upper and lower respiratory-tract infections in children: systematic review based on randomized clinical trials
Objectives Evaluate the effect of probiotics on the symptoms, duration of disease, and the occurrence of new episodes of upper and lower respiratory infections in healthy children. Sources In order to identify eligible...
ERICA: age at menarche and its association with nutritional status
Objective To estimate the mean age at menarche and its association with nutritional status in Brazilian adolescents. Methods The study sample included female adolescents aged 12–17 who participated in a multicenter, sch...