Phenotypic variability of prenatally presenting Gaucher's disease. (4th July 2013)

• Record Type: Journal Article
• Authors: Beaujot, Juliette; Joriot, Sylvie; Dieux, Anne; Vaast, Pascal; Franquet‐Ansart, Hélène; Valat, Anne‐Sylvie; Deruelle, Philippe; Holder‐Espinasse, Muriel; Devisme, Louise
• Is Part Of: Prenatal diagnosis. Volume 33:Number 10(2013:Oct.)
• Page Start: 1004
• Page End: 1006
• Publication Date: 2013-07-04
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4171
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="short"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold>What's already known about this topic?</bold> <list list-type="bullet"> <list-item> <p>Recently, a new subgroup of Gaucher's disease type 2 with early manifestations during fetal life has been reported.</p> </list-item> </list> </p> <p> <bold>What does this study add?</bold> <list list-type="bullet"> <list-item> <p>This report illustrates the diversity of fetal malformations observed in this entity, also called perinatal lethal Gaucher's disease, and, because of phenotypic variability, the autopsy with histological examination is useful to discuss this diagnosis.</p> </list-item> </list> </p> </abstract>