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
Bibliografische Angaben
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…