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Prenatal clinical expression of 3‐methylglutaconic aciduria: Barth syndrome
Author(s) -
Cardonick E. H.,
Kuhlman K.,
Ganz E.,
Pagotto L. T.
Publication year - 1997
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199710)17:10<983::aid-pd174>3.0.co;2-0
Subject(s) - myopathy , medicine , neutropenia , prenatal diagnosis , cardiomyopathy , pediatrics , endocrinology , pregnancy , biology , genetics , fetus , heart failure , toxicity
We describe the first case of prenatally detected Barth Syndrome, an X‐linked disorder involving multiple organ systems leading to dilated cardiomyopathy, skeletal myopathy, growth restriction, and recurrent bacterial infections due to neutropenia. © 1997 John Wiley & Sons, Ltd.