A case of Larsen syndrome with severe cervical malformations

Genet Couns. 1994;5(2):179-81.

Abstract

The authors report Larsen Syndrome in a male newborn with severe cervical spine malformations: segmentation abnormalities of the cervical spine and atlanto-axial dislocation. The severity of the cervical malformations occurring more often in the autosomal recessive form is emphasized.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Atlanto-Occipital Joint / abnormalities
  • Atlanto-Occipital Joint / pathology
  • Cervical Vertebrae / abnormalities*
  • Cervical Vertebrae / pathology
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Facial Bones / abnormalities*
  • Facial Bones / pathology
  • Hip Dislocation, Congenital / diagnosis
  • Hip Dislocation, Congenital / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Joint Dislocations / genetics
  • Magnetic Resonance Imaging
  • Male
  • Syndrome