Resumo

PINTO SOSA, Mauricio  e  HENAO, Josef. Cornelia de Lange Syndrome. Rev. bol. ped. [online]. 2005, vol.44, n.2, pp.97-99. ISSN 1024-0675.

Cornelia de Lange Syndrorne is a severe chromosomal anomaly infrequently seen in Bolivia. In order to offer the best treatment currently available, it is important to make an early and correct diagnosis based on the most commonly encountered pheonotypical characteristics and in this manner, establish longterm support and follow up for these patients. We present the case of a neonate admitted to the pediatric and neonatology service at Juan XXIII Hospital in La Paz, Bolivia and a discussion of some of the important features this syndrome encompasses.

Palavras-chave : Cornelia de Lange Syndrome; chromosomal abnormality.

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