Cervical spine malformation in Cornelia de Lange syndrome: a report of three patients
Academic Article
Publication Date:
2014
Citation:
Cervical spine malformation in Cornelia de Lange syndrome: a report of three patients / L.R. Bettini, L. Locatelli, M. Mariani, P. Cianci, C. Giussani, F. Canonico, A. Cereda, S. Russo, C. Gervasini, A. Biondi, A. Selicorni. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 164:6(2014 Jun), pp. 1520-1524.
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.
IRIS type:
01 - Articolo su periodico
Keywords:
cornelia de lange syndrome; cervical spine malformation; NIPBL
List of contributors:
L.R. Bettini, L. Locatelli, M. Mariani, P. Cianci, C. Giussani, F. Canonico, A. Cereda, S. Russo, C. Gervasini, A. Biondi, A. Selicorni
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