Melorheostosis in a patient with familial osteopoikilosis

Christine E. Butkus, Virginia V. Michels, Noralane M. Lindor, William P. Cooney

Research output: Contribution to journalArticle

36 Scopus citations

Abstract

We report on a 40-year-old woman with melorheostosis who also had radiographic findings of generalized osteopoikilosis. Three of her sibs have osteopoikilosis, but none of them have melorheostosis. Several cases of 'mixed sclerosing bone dysplasia' have been described previously, and all have been sporadic. Isolated melorheostosis without osteopoikilosis is also generally a sporadic condition, but osteopoikilosis has been described as an autosomal-dominant trait. The finding of mixed sclerosing bone dysplasia in a family with osteopoikilosis suggests that the melorheostotic component of this disorder may be due to a second mutation at the same locus that causes isolated familial osteopoikilosis.

Original languageEnglish (US)
Pages (from-to)43-46
Number of pages4
JournalAmerican journal of medical genetics
Volume72
Issue number1
DOIs
StatePublished - Oct 3 1997

Keywords

  • Melorheostosis
  • Mixed sclerosing bone dysplasia
  • Osteopoikilosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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