[A young child with trisomy 21. Medical aspects: myths and reality]

Everyone is familiar with Down syndrome but both the general public and the medical profession are inadequately educated about this disability. In this paper, medical aspects are briefly discussed. The incidence of Down syndrome, which is one in 700, is stable. Maternal age is under 35 years in 75% of cases. Fetal ultrasonography and biochemical screening can be expected to increase the frequency of antenatal fetal chromosome analysis. One of every three children with Down syndrome has congenital heart disease (common atrioventricular canal in 50% of cases); pulmonary hypertension develops unusually early and, consequently, prompt surgical treatment may be indicated. Hyperlaxity is variable and has little effect on motor development. Ocular anomalies and hearing loss should be detected and treated early since they have the potential for increasing the child's intellectual impairment. The life span of Down syndrome patients is increasing gradually as a result of medical advances and changes in lifestyles. Every Down syndrome child has abilities, a social and familial environment, and a personality, and all these elements are closely interrelated. Each child is a unique person to be discovered.