1.
Am J Med Genet
; 90(2): 110-4, 2000 Jan 17.
Article
de Anglais
| MEDLINE
| ID: mdl-10607947
RÉSUMÉ
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.