title: Infantile refsum disease in four Amish sibs.
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.
authors.affiliation: Department of Cytogenetics, Parkview Hospital, Fort Wayne, Indiana, USA. PBader2792@aol.com
authors.forename: P I
authors.initials: PI
authors.lastname: Bader
authors.forename: S
authors.initials: S
authors.lastname: Dougherty
authors.forename: N
authors.initials: N
authors.lastname: Cangany
authors.forename: G
authors.initials: G
authors.lastname: Raymond
authors.forename: C E
authors.initials: CE
authors.lastname: Jackson
mesh_terms: D000293:Adolescent; D000928:Antidepressive Agents / Q000627:therapeutic use; D002648:Child; D003241:Consanguinity; D005260:Female; D005473:Fluoxetine / Q000627:therapeutic use; D006801:Humans; D008140:Lorazepam / Q000627:therapeutic use; D008297:Male; D012035:Refsum Disease / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D018967:Risperidone / Q000627:therapeutic use
chemical_list: D000928:Antidepressive Agents; D005473:Fluoxetine; D018967:Risperidone; D008140:Lorazepam