Infantile Refsum disease in four Amish sibs

Patricia I. Bader; Susannah Dougherty; Nancy Cangany; Gerald Raymond; Charles E. Jackson

doi:10.1002/(sici)1096-8628(20000117)90:2<110::aid-ajmg4>3.0.co;2-%23

Infantile Refsum disease in four Amish sibs

Patricia I. Bader, Susannah Dougherty, Nancy Cangany, Gerald Raymond, Charles E. Jackson

Neurology

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

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 language	English (US)
Pages (from-to)	110-114
Number of pages	5
Journal	American Journal of Medical Genetics
Volume	90
Issue number	2
DOIs	https://doi.org/10.1002/(sici)1096-8628(20000117)90:2<110::aid-ajmg4>3.0.co;2-%23
State	Published - Jan 17 2000

Keywords

Amish
Infantile Refsum disease
Peroxisomal disorder
Phytanic acid
Retinitis pigmentosa

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10.1002/(sici)1096-8628(20000117)90:2<110::aid-ajmg4>3.0.co;2-%23

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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.",

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AU - Dougherty, Susannah

AU - Cangany, Nancy

AU - Raymond, Gerald

AU - Jackson, Charles E.

PY - 2000/1/17

Y1 - 2000/1/17

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AB - 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.

KW - Amish

KW - Infantile Refsum disease

KW - Peroxisomal disorder

KW - Phytanic acid

KW - Retinitis pigmentosa

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ER -

Infantile Refsum disease in four Amish sibs

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