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.
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.
Cervical spine malformation in Cornelia de Lange syndrome: a report of three patients
M. Mariani;A. Cereda;C. Gervasini;
2014
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.
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