Infantile Refsum disease in four Amish sibs

Patricia I. Bader, Susannah Dougherty, Nancy Cangany, Gerald Raymond, Charles E. Jackson

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this sibship are characteristic poorly formed yellow-orange teeth in at least three of the four affected sibs and behavior problems in the affected females.

Original languageEnglish (US)
Pages (from-to)110-114
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume90
Issue number2
DOIs
StatePublished - Jan 17 2000

Keywords

  • Amish
  • Infantile Refsum disease
  • Peroxisomal disorder
  • Phytanic acid
  • Retinitis pigmentosa

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