3.9 Article

Cornelia de Lange Syndrome: A Case Report of a Brazilian Boy

Journal

CLEFT PALATE-CRANIOFACIAL JOURNAL
Volume 48, Issue 4, Pages 490-493

Publisher

ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS
DOI: 10.1597/10-025

Keywords

congenital abnormality; Cornelia de Lange syndrome; NIPBL protein

Funding

  1. State of Minas Gerais Research Foundation (FAPEMIG)

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Cornelia de Lange syndrome is a rare multisystem disorder characterized by a distinctive facial appearance, delayed growth and psychomotor skills, behavioral problems, malformation of the upper limbs, and impairment on the quality of life of affected subjects. This article reports a case of a child with the syndrome, emphasizing the orofacial manifestations. Knowledge on the etiopathological aspects and characteristic features of this condition is essential so that professionals can provide health care and help improve the quality of life of affected individuals and their families.

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