Atelosteogenesis I and boomerang dysplasia: a question of nosology

Clin Genet. 1991 Jun;39(6):471-80. doi: 10.1111/j.1399-0004.1991.tb03060.x.


We report a patient whose clinical, radiologic and histopathologic findings are compatible with severe atelosteogenesis (AT-I). The patient is compared with previously reported cases of AT-I, as well as with patients reported as having "boomerang" dysplasia. We conclude that it is reasonable to consider AT-I and boomerang dysplasia as part of a spectrum, probably reflecting a common etiology. More and detailed clinical, radiologic and histopathologic reports are needed to further clarify the relationship of AT-II and AT-III in this family of skeletal dysplasias.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Bone and Bones / pathology
  • Humans
  • Infant, Newborn
  • Male
  • Radiography
  • Thanatophoric Dysplasia / diagnostic imaging
  • Thanatophoric Dysplasia / etiology*
  • Thanatophoric Dysplasia / pathology