Neurofibromatosis 1 and osseous fibrous dysplasia in a family

Am J Med Genet. 1992 Jul 15;43(5):815-22. doi: 10.1002/ajmg.1320430513.


We report on the cosegregation of neurofibromatosis 1 (NF 1) and osseous fibrous dysplasia in a family. The father and 3 children by 2 women are affected. A fourth child had neither NF 1 nor osseous fibrous dysplasia. All 4 affected individuals had NF 1, i.e., café-au-lait spots in 4, neurofibromata in 4, Lisch nodules in 3, macrocrania in 3, scoliosis in 2, and curvature of the long bones in 2. Each demonstrated various fibroosseous lesions of the skeleton including non-ossifying fibromas in 3 and both non-ossifying fibromas and fibrous dysplasia in one. This pattern suggests that the fibrous bony lesions are a component of NF 1 in this family. Alternatively, a mutant gene resulting in the fibrous changes in bone could be linked to the gene for NF 1. Another possibility is the coincidence of the 2 non-linked traits segregating in the same family.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Female
  • Fibrous Dysplasia of Bone / complications*
  • Fibrous Dysplasia of Bone / diagnosis
  • Fibrous Dysplasia of Bone / genetics
  • Humans
  • Male
  • Neurofibromatosis 1 / complications*
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / genetics
  • Pedigree