Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings

Am J Med Genet A. 2007 Dec 15;143A(24):3280-5. doi: 10.1002/ajmg.a.32022.

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.

Publication types

  • Case Reports

MeSH terms

  • Autopsy
  • Bone Diseases, Developmental
  • Bone and Bones / pathology*
  • Brain / pathology
  • Facial Bones / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Nose / pathology
  • Osteosclerosis / diagnosis*
  • Prenatal Diagnosis*
  • Stillbirth
  • Syndrome