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

Am J Med Genet A. 2014 Jun;164A(6):1520-4. doi: 10.1002/ajmg.a.36457. Epub 2014 Mar 25.

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.

Keywords: NIPBL; cervical spine malformation; cornelia de lange syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Cycle Proteins
  • Cervical Vertebrae / abnormalities*
  • De Lange Syndrome / genetics*
  • De Lange Syndrome / pathology
  • Humans
  • Male
  • Proteins / genetics
  • Psychomotor Disorders / genetics
  • Upper Extremity Deformities, Congenital / genetics*
  • Upper Extremity Deformities, Congenital / pathology

Substances

  • Cell Cycle Proteins
  • NIPBL protein, human
  • Proteins