Atelosteogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II

H. J. Stern, J. M. Graham, R. S. Lachman, W. Horton, P. M. Bernini, P. K. Spiegel, J. Bodurtha, E. J. Ives, M. Bocian, D. L. Rimoin

Research output: Contribution to journalArticle

Abstract

We present 5 cases of a short-limb dwarfism syndrome whose manifestations overlap those of atelosteogenesis and oto-palato-digital syndrome Type II. Clinical, radiographic, genetic, and histologic data are presented which demonstrate differences between our patients and previously reported cases of these other conditions. We conclude that the disorder seen in these children represents a distinct chondrodysplasia for which we propose the name atelosteogenesis Type III.

Original languageEnglish (US)
Pages (from-to)183-195
Number of pages13
JournalAmerican journal of medical genetics
Volume36
Issue number2
DOIs
StatePublished - Jun 12 1990
Externally publishedYes

Keywords

  • Larsen syndrome
  • chondrodystrophy
  • dwarfism
  • equinovarus foot deformity
  • fibular agenesis
  • joint dislocation
  • rhizomelia
  • short stature

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Stern, H. J., Graham, J. M., Lachman, R. S., Horton, W., Bernini, P. M., Spiegel, P. K., Bodurtha, J., Ives, E. J., Bocian, M., & Rimoin, D. L. (1990). Atelosteogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. American journal of medical genetics, 36(2), 183-195. https://doi.org/10.1002/ajmg.1320360212