Infantile Refsum disease in four Amish sibs

Infantile Refsum disease (IRD) appears with varying degrees of impaired vis ion, hearing loss, developmental delays, and neuromotor deficiencies. We re port on four Amish sibs with IRD from a consanguineous marriage; biochemica l testing supported: the diagnosis of IRD. Of particular interest in this s ibship are characteristic poorly formed yellow-orange teeth in at least thr ee of the four affected sibs and behavior problems in the affected females. Am. J. Med. Genet. 90:110-114, 2000. (C) 2000 Wiley-Liss, Inc.