Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges

William R. Osebold*, Andrew K. Poznanski, John M. Opitz, Leonard O. Langer, Jürgen W. Spranger, K. Krishnan Unni

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

We present the findings and clinical course of a Caucasian woman (now age 23 1/2 ) who has been treated since early childhood for a previously undescribed syndrome of painful osteocartilaginous metaplasia of long bone metaphyses and painful distal phalangeal osteolysis and soft tissue swelling. Despite extensive evaluations and attempts at effective treatment, the cause and pathogenesis of her unique musculoskeletal disorder remain elusive.

Original languageEnglish (US)
Pages (from-to)187-195
Number of pages9
JournalAmerican Journal of Medical Genetics
Volume80
Issue number3
DOIs
StatePublished - Jan 1 1998

Keywords

  • Coxa vara
  • Idiopathic osteolysis
  • Metaphyseal chondrodysplasia
  • Progressive diaphyseal overtubulation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges'. Together they form a unique fingerprint.

Cite this