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Keywords:

  • Raine syndrome;
  • osteosclerosis;
  • cloverleaf skull;
  • nasal hypoplasia;
  • hypertrophic gums;
  • intracerebral calcifications;
  • proptosis;
  • desmosterolosis

Abstract

Raine syndrome is an autosomal recessive condition with generalized osteosclerosis, characteristic facial dysmorphism and brain abnormalities including intracerebral calcifications. We report on a case with Raine syndrome born to nonconsanguineous couple and report the prenatal sonogram/MRI, the fetopathology, and neuropathology findings. © 2007 Wiley-Liss, Inc.