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Hydrops fetalis as manifestation of generalized arterial calcification of infancy (GACI) (case report)

L Haftel, F Wild, S Porz, F Rutsch, G Strobl-Wildemann, H König, I Henrichs · Zeitschrift für Geburtshilfe und Neonatologie · 2008 · Heft 05

Dokument
815040
CareLit-ID
Jahr
2008
Publikation
PDF
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Metadaten
DOI
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Bibliografische Angaben

Zeitschrift
Zeitschrift für Geburtshilfe und Neonatologie
Autor:innen
L Haftel, F Wild, S Porz, F Rutsch, G Strobl-Wildemann, H König, I Henrichs
Ausgabe
Heft 05 / 2008
Seiten
–
Erschienen: 2008-05-15 00:00:00
ISSN
0948-2393

Zusammenfassung

Introduction: Generalized arterial calcification of infancy (GACI) is a rare autosomal recessive disease caused by mutations in ENPP1. Due to extensive calcification of the arterial tunica media associated with intimal proliferation, the defect leads to vascular occlusions. Most affected children die within the first 6 months of life. To our knowledge only few cases of GACI with hydrops fetalis were reported (1). Case report: We report on a female infant presented with hydrops fetalis. The parents are non-consanguineous of caucasian origin. The pregnancy was uneventful except for unexplainable polyhydramnios. Du…

Schlagworte

Zeitschrift für Geburtshilfe und Neonatologie