Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities

Dorothy K. Grange, Ian C. Balfour, Su Chiung Chen, Ellen G. Wood

Research output: Contribution to journalArticle

39 Scopus citations

Abstract

We report on 4 of 9 sibs with a syndrome of stenosis of the renal arteries and chronic hypertension, variable stenosis or occlusion of cerebral, abdominal and probably coronary arteries due to suspected fibromuscular dysplasia, congenital cardiac abnormalities, brachydactyly and syndactyly of the hands and feet, and increased bone fragility consistent with a mild form of osteogenesis imperfecta. Three affected individuals have had mild to moderate learning disabilities. The parents and the remaining 5 sibs have normal hands and feet and no history of excessive fractures. Individual components of this syndrome may appear as isolated conditions, including fibromuscular dysplasia, brachydactyly, syndactyly, and osteogenesis imperfecta, and are autosomal dominant traits in many cases. Explanations for this familial occurrence include autosomal recessive inheritance, autosomal dominant inheritance with decreased penetrance, or parental gonadal mosaicism for a mutation involving a single gene or several contiguous genes.

Original languageEnglish
Pages (from-to)469-480
Number of pages12
JournalAmerican Journal of Medical Genetics
Volume75
Issue number5
StatePublished - Feb 17 1998

Keywords

  • Arterial occlusion
  • Bone fragility
  • Brachydactyly
  • Cardiac defect
  • Fibromuscular dysplasia
  • Hypertension
  • Learning disability
  • Syndactyly

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