Raine syndrome: expanding the radiological spectrum

Pediatr Radiol. 2011 Mar;41(3):389-93. doi: 10.1007/s00247-010-1875-4. Epub 2010 Nov 13.

Abstract

We describe ante- and postnatal imaging of a 1-year-old otherwise healthy girl with Raine syndrome. She presented with neonatal respiratory distress related to a pyriform aperture stenosis, which was diagnosed on CT. Signs of chondrodysplasia punctata, sagittal vertebral clefting and intervertebral disc and renal calcifications were also found on imaging. This new case confirms that Raine syndrome is not always lethal. The overlapping imaging signs with chondrodysplasia punctata and the disseminated calcifications give new insights into its pathophysiology.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / diagnostic imaging
  • Cleft Palate* / diagnostic imaging
  • Exophthalmos* / diagnostic imaging
  • Female
  • Humans
  • Infant
  • Microcephaly* / diagnostic imaging
  • Osteosclerosis* / diagnostic imaging
  • Radiography

Supplementary concepts

  • Raine syndrome