Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review

Pediatr Neurosurg. 2003 May;38(5):238-43. doi: 10.1159/000069822.

Abstract

Dubowitz syndrome is a disorder involving craniofacial abnormalities, growth retardation and mental retardation. Approximately 142 cases have been reported, with various associated other anomalies. These include cardiovascular, urogenital and endocrine abnormalities, as well as a predisposition to infections and hematological malignancies. Scoliosis has been described in association with this syndrome, as have isolated vertebral abnormalities. There has, however, been no description of craniocervical abnormalities. We describe three Dubowitz patients with significant craniocervical abnormalities.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cervical Vertebrae / abnormalities*
  • Cervical Vertebrae / diagnostic imaging*
  • Cervical Vertebrae / pathology
  • Child, Preschool
  • Craniofacial Abnormalities / complications*
  • Craniofacial Abnormalities / diagnostic imaging*
  • Craniofacial Abnormalities / pathology
  • Female
  • Growth Disorders / complications*
  • Growth Disorders / diagnostic imaging*
  • Growth Disorders / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / complications*
  • Intellectual Disability / diagnostic imaging*
  • Intellectual Disability / pathology
  • Magnetic Resonance Imaging
  • Male
  • Skull / abnormalities*
  • Skull / diagnostic imaging*
  • Skull / pathology
  • Syndrome
  • Tomography, X-Ray Computed