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

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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