Problemi speciali
La sindrome di Cornelia de Lange
Cornelia de Lange syndrome
Valentina Decimi1, Anna Cereda2, Milena Mariani3, Laura Bettini1, Angelo Selicorni4
1Scuola di Specializzazione in Pediatria, Università di Milano-Bicocca, Fondazione MBBM, Clinica Pediatrica, Monza
2UOS di Pediatria, Ospedale Papa Giovanni XXIII, Bergamo
3Scuola di Specializzazione in Genetica, Università degli Studi di Milano, Fondazione MBBM, Clinica Pediatrica, Monza
4UOC di Pediatria, ASST Lariana, Como; UOS di Genetica Clinica Pediatrica, Fondazione MBBM, Monza
Giugno 2016 - pagg. 373 -380
Abstract
Which are the distinctive features of Cornelia de Lange syndrome? When should it be
suspected? Which of these features are of interest for a paediatrician who assists a
young patient with this syndrome? Which tools can the paediatrician use in order to
give adequate support to the child and their family? The paper aims to answer these
questions and provide the practical indications for early diagnosis and care of children
affected by this rare syndrome.
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Classificazione MeSH
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Corrispondenza: angelo.selicorni61@gmail.com