Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

Am J Med Genet. 2001 Jan 22;98(3):230-4. doi: 10.1002/1096-8628(20010122)98:3<230::aid-ajmg1080>3.0.co;2-k.

Abstract

We report on a family with typical clinical findings of Noonan syndrome associated with giant cell lesions in maxilla and mandible. We discuss the obvious clinical overlap between Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome, and we give further clinical and molecular support that these two entities could be allelic conditions.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Chromosomes, Human, Pair 12 / genetics
  • DNA / genetics
  • Diagnosis, Differential
  • Family Health
  • Female
  • Granuloma, Giant Cell / genetics
  • Granuloma, Giant Cell / pathology*
  • Haplotypes
  • Humans
  • Male
  • Microsatellite Repeats
  • Noonan Syndrome / genetics
  • Noonan Syndrome / pathology*
  • Pedigree
  • Syndrome

Substances

  • DNA