Infantile refsum disease in four Amish sibs.

  title={Infantile refsum disease in four Amish sibs.},
  author={Patricia I. Bader and Shona Dougherty and N Cangany and Gerald Raymond and Charles E. Jackson},
  journal={American journal of medical genetics},
  volume={90 2},
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… CONTINUE READING