ABSTRACT
Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion. Here we reported phenotype features of members of a Central African family with VDW syndrome consisting of labioalveolar cleft, depressions of the lower lip with labial fistulae (lip pits), submucosal clefts and cleft palate. Mutation analysis by means of multiplex ligation-dependent probe amplification and chromosomal microarray revealed a 374.070 kb, deletion encompassing the entire IRF6 gene in four affected family members. Microdeletion of the entire IRF6 gene causes the classical VDW syndrome phenotype.
Subject(s)
Abnormalities, Multiple , Cleft Lip , Cleft Palate , Cysts , Family , Gene Deletion , Interferon Regulatory Factors/deficiency , Lip/abnormalities , Pedigree , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Child, Preschool , Cleft Lip/genetics , Cleft Lip/pathology , Cleft Palate/genetics , Cleft Palate/pathology , Cysts/genetics , Cysts/pathology , Democratic Republic of the Congo , Female , Humans , Lip/pathology , MaleABSTRACT
PURPOSE: To determine the incidence and risk factors of occurrence of non-syndromic cleft lip and/or cleft palate (NSCLP) in Lubumbashi. METHOD: A case-control study was conducted in the health district of Lubumbashi from February 2012 to December 2015. An exhaustive sampling, collecting all newborns with cleft lip and/or cleft palate (CL ± P) in maternity wards was conducted. From a total of 172 cases, 162 non-syndromic cases were recruited. For each case, one clinically normal newborn control was selected. RESULTS: NSCLP had an incidence of 1/1258 live births (0.8/1000). We found significant associations with a family history of cleft lip and palate (CLP) (x2family history = 11.5, p = 0.0007), maternal alcohol intake (OR = 19.3, 95% CI: 1.9-197.1), paternal alcohol during the periconceptional period and the first trimester of pregnancy (OR = 18.7, 95% CI: 3.9-89.2), maternal educational level lower than high school (OR = 9.5, 95% CI: 2.0-44.7), clay (Pemba) consumption during pregnancy (OR = 38.3, 95% CI: 9.3-157.0), the use of insecticides in the evening (OR = 130.3, 95% CI: 13.2-1286.9), indoor cooking with charcoal (Makala) (OR = 6.5, 95% CI: 1.22-34.5), and regular consumption of Kapolowe fish, supposedly contaminated with heavy metals (OR = 29.5, 95% CI: 7.4-116.7). CONCLUSION: Several environmental risk factors highly prevalent in Central Africa for facial clefting were found.
Subject(s)
Cleft Lip/epidemiology , Cleft Palate/epidemiology , Air Pollutants/adverse effects , Alcohol Drinking/adverse effects , Case-Control Studies , Charcoal , Congo/epidemiology , Cooking , Feeding Behavior , Female , Food Contamination , Humans , Incidence , Infant, Newborn , Insecticides/adverse effects , Male , Pregnancy , Pregnancy Trimester, First , Risk Factors , Smoking/adverse effects , Socioeconomic FactorsABSTRACT
Nutritional status of children is a global indicator of children's well-being and, indirectly, of the community's well-being. The first objective of this work is to assess the nutritional status of children under five years-old living in a suburb of the city of Lubumbashi, DR Congo, at the end of the 1998-2003 armed conflict. The second objective aims to identify some predictors of malnutrition. A multivariate logistic regression was applied to the results of a cross-sectional survey of 1963 children from selected households. In addition to the anthropometric variables, living conditions were also used. We observed 33.5% stunted growth and 3.8% emaciation. After logistic regression, a low maternal educational level (less than 7 years), the absence of a drinking water tap available in the house or yard, male gender, and age of children ( > 11 months) were all significantly associated with increased risk of stunted growth. Moreover, decreased appetite, diarrhea and age of children ( < 12 months) were significant predictors of emaciation. Compared to the classification of the World Health Organization, our results indicate that the prevalence of stunting is high and the prevalence of emaciation is low. Interventions against malnutrition should consider the various predictors discussed in this study in order to reduce mortality and morbidity in children and contribute to their well-being.
