Alterações fenotípicas em indivíduos com Síndrome de Down da APAE de Caarapó-MS

Abstract

Objective: This research has as its objective to make a survey on the main phenotypic alterations in Down Syndrome (DS) individuals at APAE Caarapó MS and their possible causes and familiar history. Methods: We were accomplished a study on 10 registered individuals at APAE, Caarapó, MS and raised data on the parent’s age and individual characteristics phenotypic of the individuals. The informations were obtained through a questionnaire that was applied to responsible and assessment of students' individual records. Results: The more often phenotypic characteristics were brachycefaly, microcephaly, the contour on the face being flat, oblique palpebral fissures, epichantal folds, low set ears and folded, protruding tongue, short neck, muscular hypotonia and ample space between the hallux and the forefinger, all happened in 100% of the studied individuals. The maternal age was kept under 35 years in 80% of the mothers and corresponding values. The waist circumference were high in 50% of the students.Also it was found during the evaluation, characteristics how the presence of Pectus carinatum and Pectus excavatum. Conclusions: The search on the phenotypic characteristics in DS helps to clear some doubts on the main variations existed in individuals. It´s obvious that there is no clear evidence about its incident and that nowadays are being surveyed more syndrome data that are helping to increase the life expectancy of these patients.