Macroepiphyseal dysplasia with symptomatic osteoporosis, wrinkled skin, and aged appearance: A presumed autosomal recessive condition

William H. McAlister, Jeffrey D. Coe, Michael P. Whyte

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

We report our detailed investigation of a 7-1/2-year-old girl with short stature, aged appearance, decreased subcutaneous fat and muscle mass, dry coarse hair, foot deformities, macroepiphyses with prominent but lax joints, and osteoporosis with recurrent fractures who is the off-spring of first cousins. This constellation of abnormalities differs from previously reported cases where macroepiphyses were a prominent finding. Our patient appears, therefore, to have a new, autosomal recessively inherited, syndrome.

Original languageEnglish
Pages (from-to)47-51
Number of pages5
JournalSkeletal Radiology
Volume15
Issue number1
DOIs
StatePublished - Jan 1 1986

Keywords

  • Aging
  • Bone dysplasia
  • Macroepiphyses
  • Osteoporosis

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