Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 164, Issue 6, Pages 1520-1524Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36457
Keywords
cornelia de lange syndrome; cervical spine malformation; NIPBL
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Funding
- Mariani Foundation, Milan, Italy
- Comitato Maria Letizia Verga, Monza, Italy
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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. (c) 2014 Wiley Periodicals, Inc.
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