PRENATAL CLINICAL EXPRESSION OF 3-METHYLGLUTACONIC ACIDURIA - BARTH-SYNDROME

Authors
CARDONICK EH KUHLMAN K GANZ E PAGOTTO LT
Citation
Eh. Cardonick et al., PRENATAL CLINICAL EXPRESSION OF 3-METHYLGLUTACONIC ACIDURIA - BARTH-SYNDROME, Prenatal diagnosis, 17(10), 1997, pp. 983-988
Citations number
12
Categorie Soggetti
Obsetric & Gynecology
Journal title
Prenatal diagnosis → ACNP
ISSN journal
01973851
Volume
17
Issue
10
Year of publication
1997
Pages
983 - 988
Database
ISI
SICI code
0197-3851(1997)17:10<983:PCEO3A>2.0.ZU;2-4
Abstract
We describe the first case of prenatally detected Earth Syndrome, an X -linked disorder involving multiple organ systems leading to dilated c ardiomyopathy, skeletal myopathy, growth restriction, and recurrent ba cterial infections due to neutropenia. (C) 1997 by John Wiley & Sons, Ltd.