Resumo

PEREZ CHAVEZ , Diego Alberto. SIndrome de Down. Rev. Act. Clin. Med [online]. 2014, vol.45, pp. 2357-2361. ISSN 2304-3768.

ABSTRACT Down syndrome is a genetic disease resulting from trisomy 21 by meiotic non-disjunction, mitotic or an unbalanced translocation of the pair, which occurs with a frequency of 1 in 800,000, with increasing  maternal age. The general clinical signs that characterize this box are: mental retardation, brachycephaly, continuous facial erythema, microtia, Brushfield spots, congenital cardiac anomalies, dysplasia of the second phalanx of the fifth finger, small hands, Mongolian facies, hypotonia, plus delay in physical and mental development. However, the presence of mental retardation in these patients may be variable, being mild conditions that allow these patients to perform daily tasks very easily. There is no treatment for Down syndrome, so that measures of rehabilitation through physiotherapy, and psycho - phonoaudiological special techniques play an important role in patients with severe mental commitment, allowing in most cases adequate social reintegration.

Palavras-chave : Down Syndrome; Trisomy 21; Hypotonia; Brushfield spots.