Published in
Wiley, The American Journal of Medical Genetics - Part A, 6(164), p. 1520-1524, 2014
DOI: 10.1002/ajmg.a.36457
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Cervical spine malformation in cornelia de lange syndrome: A report of three patients
Journal article published in 2014 by
Laura Rachele Bettini,
Laura Locatelli,
Milena Mariani,
Paola Cianci,
Carlo Giussani,
Francesco Canonico,
Anna Cereda,
Silvia Russo 
,
Cristina Gervasini,
Andrea Biondi,
Angelo Selicorni
,
Cristina Gervasini,
Andrea Biondi,
Angelo Selicorni
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Abstract
Cornelia de Lange syndrome (CdLS) is a complex genetic disease with skeletal involvement mostly related to upper limb malformations. We report on three males with clinical and molecular diagnoses of CdLS. Besides typical CdLS features, all showed different cervical spine malformations. To the best of our knowledge, this is an unusual malformation in the CdLS phenotypic spectrum