Sponastrime dysplasia: Five new cases and review of nine previously published cases

Leonard O. Langer, Rodney K. Beals, Stephen LaFranchi, Charles I. Scott, Joseph J. Sockalosky

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

Sponastrime dysplasia (SD) is a dwarfing autosomal recessive short-limb bone dysplasia. The diagnosis is established by a combination of clinical and radiological findings of which the radiological are the more specific. The current diagnostic criteria are ambiguous as demonstrated by the fact that, in our opinion, three of the five patients reported since the original article do not have this condition. Comparison of our five patients and the 9 published patients has led to development of more specific diagnostic criteria. Previously undescribed complications of this condition are subglottic stenosis and tracheo-broncho-malacia, developmental coxa vara, and avascular necrosis of the capital femoral epiphyses.

Original languageEnglish (US)
Pages (from-to)20-27
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume63
Issue number1
DOIs
StatePublished - May 3 1996

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Keywords

  • autosomal recessive
  • developmental coxa vara
  • dwarfism
  • familial
  • osteochondrodysplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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