Abstract

SANZ, Heydi et al. SÍNDROME   DE CORNELIA DE LANGE SÍNDROME   DE BRACHMANN-DE LANGE. Gac Med Bol [online]. 2007, vol.30, n.2, pp.54-57. ISSN 1012-2966.

In our days it is not even possible to be affirmed for sure which is the etiology of the Cornelia de Lange's Syndrome although day to day advances are made in that aspect. The diagnostic is clinical being based on recognizing the fenotípics characteristic of face, retardation of the intrauterine and postnatal growth, abnormalities in the extremities, and mental delay. The rank and the severity of these alterations can vary much some cases to others. In regard to the multiple necessities and possible complications handling of these patients it must be multidisciplinary. The case of a boy admitted in the service of pediatric appears, of the Hospital del niño Manuel Ascencio Villarroel de Cochabamba, Bolivia.

Keywords : Cornelia de Lange's Syndrome; dismorphia; clinical diagnose; multidisciplinary handling.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )