Cranio-meta-diaphyseal dysplasia: 25 year follow-up and review of literature

Am J Med Genet A. 2010 Sep;152A(9):2335-8. doi: 10.1002/ajmg.a.33582.


We report here on a 25-year follow-up of cranio-meta-diaphyseal dysplasia in a 31-year-old Caucasian male, who was reported in the literature at the age of 8 years [Langer et al. (1991); Skeletal Radiol 20:37-41]. He has hyperostotic craniofacial features with protruding lower jaw and midface hypoplasia. He has the typical radiographic features of wide long tubular bones without normal metaphyseal flaring and wide short tubular bones without normal diaphyseal constriction. We describe here his clinical and radiological findings and compare his case with those published in the literature. He is the oldest reported patient with this disorder giving some insight into the natural history of this rare skeletal dysplasia.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Bone Diseases, Developmental / diagnostic imaging*
  • Camurati-Engelmann Syndrome / diagnostic imaging*
  • Craniofacial Abnormalities / diagnostic imaging
  • Follow-Up Studies
  • Humans
  • Male
  • Osteochondrodysplasias / diagnostic imaging
  • Radiography
  • Rare Diseases