Cervical spine malformation in cornelia de lange syndrome: A report of three patients

Laura Rachele Bettini, Laura Locatelli, Milena Mariani, Paola Cianci, Carlo Giussani, Francesco Canonico, Anna Cereda, Silvia Russo, Cristina Gervasini, Andrea Biondi, Angelo Selicorni

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1520-1524
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number6
DOIs
Publication statusPublished - 2014

Keywords

  • Cervical spine malformation
  • Cornelia de lange syndrome
  • NIPBL

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

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