Diagnostic overview of Cornelia de Lange Syndrome: A review Descripción general del diagnóstico del Síndrome de Cornelia de Lange: una revisión

• DOI: 10.22533/at.ed.1592128095

• Palavras-chave: Cornélia de Lange; Síndrome genética; Abordagem multidisciplinar; SCdL

• Keywords: Cornelia de Lange; Genetic Syndrome, Multidisciplinary approach; CdLS.

• Abstract:

  Objective: Present the pre- and postnatal diagnosis of Cornelia de Lange Syndrome (CdLS) and warn about its various clinical manifestations to improve the prognosis of affected patients. Methods: This is a literature review between the years 2010 to 2021, using the LILACS, MEDLINE, Pubmed and SciELO databases, using the descriptors “Cornelia de Lange Syndrome” and “Diagnosis”. Original articles available in English, Portuguese and Spanish that responded to the objective of the study were included. 68 articles were reviewed among which 43.1% were case reports, 36.2% were bibliographic reviews and 20.7% were cohort studies. The studies expose topics ranging from prenatal diagnosis, genetic alterations, to the main manifestations of SCdL. Conclusion: It is concluded that SCdL has a broad phenotypic spectrum, its diagnosis is mostly made in the postnatal period and it is necessary that the syndrome is better contemplated in scientific circles and more widespread in the general population so that affected patients get better quality of life. 

• Número de páginas: 13