Postnatal remission of ocular, auditory, and somatic findings in Stickler syndrome

Pediatr Int. 2004 Oct;46(5):605-8. doi: 10.1111/j.1442-200x.2004.01934.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Cataract / pathology
  • Cleft Palate / pathology
  • Collagen Type II / genetics*
  • Hearing Disorders / pathology
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Lumbar Vertebrae / diagnostic imaging
  • Lumbar Vertebrae / pathology
  • Male
  • Micrognathism / pathology
  • Mutation*
  • Prognosis
  • Radiography
  • Retinal Degeneration / pathology
  • Syndrome
  • Thoracic Vertebrae / diagnostic imaging
  • Thoracic Vertebrae / pathology

Substances

  • COL2A1 protein, human
  • Collagen Type II