American journal of medical genetics 2000-Jan
Infantile refsum disease in four Amish sibs.
Numai utilizatorii înregistrați pot traduce articole
Log In / Înregistrare
Linkul este salvat în clipboard
Cuvinte cheie
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.