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Erschienen in: Journal of Inherited Metabolic Disease 1/2017

16.11.2016 | SSIEM 2015

Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings

verfasst von: Laurent Guibaud, Sophie Collardeau-Frachon, Audrey Lacalm, Mona Massoud, Massimiliano Rossi, Marie Pierre Cordier, Christine Vianey-Saban

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 1/2017

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Abstract

Prenatal manifestations of inborn errors of metabolism (IEM) are related to severe disorders involving metabolic pathways active in the fetal period and not compensated by maternal or placental metabolism. Some prenatal imaging findings can be suggestive of such conditions—especially in cases of consanguinity and/or recurrence of symptoms—after exclusion of the most frequent nonmetabolic etiologies. Most of these prenatal imaging findings are nonspecific. They include mainly ascites and hydrops fetalis, intrauterine growth restriction (IUGR), central nervous system (CNS) anomalies, echogenic kidneys, epiphyseal stippling, craniosynostosis, and a wide spectrum of dysostoses. These anomalies can be isolated, but in most cases, an IEM is suggested by an association of features. It must be stressed that the diagnosis of an IEM in the prenatal period is based on a close collaboration between specialists in fetal imaging, medicine, genetics, biology, and pathology.
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Metadaten
Titel
Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings
verfasst von
Laurent Guibaud
Sophie Collardeau-Frachon
Audrey Lacalm
Mona Massoud
Massimiliano Rossi
Marie Pierre Cordier
Christine Vianey-Saban
Publikationsdatum
16.11.2016
Verlag
Springer Netherlands
Erschienen in
Journal of Inherited Metabolic Disease / Ausgabe 1/2017
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-016-9992-3

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