Abstract

TABOADA LUGO, Noel  and  LARDOEYT FERRER, Roberto. Criterios para el diagnóstico clínico de algunos síndromes genéticos. Rev Cubana Pediatr [online]. 2003, vol.75, n.1, pp. 0-0. ISSN 1561-3119.

Very little was known up to the middle of the last century about genetic diseases, but just its mere existance. Considered isolatedly, many of them are uncommon clinical entities, but as there are 30 000 syndromes at present, they are a pediatric affection that cannot be disdained. In spite of their complexity, the pediatrician can easily face the challenge of making the diagnosis as a basis to order the complementary tests, or to have an interconsultation with other specialists, which should not be done when he sees a child with a "rare" syndrome for the first time. This paper was aimed at giving pediatricians and medical personnel in general the clinical criteria resulting from an exhaustive clinical analysis that allow to diagnose some genetic syndromes. The criteria established for the clinical diagnosis of 9 genetic syndromes were included.

Keywords : DIAGNOSIS, CLINICAL; PRADER-WILLI SYNDROME [diagnosis]; MARFAN SYNDROME [diagnosis]; NEUROFIBROMATOSIS [diagnosis]; TUBEROUS SCLEROSIS [diagnosis]; DOWN'S SYNDROME [diagnosis].