Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental retardation: a syndrome?

Am J Med Genet. 1995 May 22;57(1):6-9. doi: 10.1002/ajmg.1320570103.


We present a 40-year-old man with mental retardation, short stature, minor anomalies, and seizures, who was found to have osteopoikilosis with melorheostosis (mixed sclerosing bone dysplasia, MSBD). Cytogenetic findings of a low level trisomy 8 mosaicism were not confirmed by fluorescence in situ hybridization (FISH) of fibroblast cells. To our knowledge, the association of MSBD and mental retardation has not been previously reported.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Diseases / diagnosis
  • Bone Diseases / diagnostic imaging
  • Bone Diseases / genetics*
  • Chromosomes, Human, Pair 8
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Mosaicism
  • Radiography
  • Syndrome
  • Trisomy