Article
Fetal hydrops, hyperechogenic arteries and pathological doppler findings at 29 weeks: prenatal presentation of generalized arterial calcification of infancy - a novel mutation in ENPP1.
Fetal diagnosis and therapy - 1 Jan 2009
Reitter A, Fischer D, Buxmann H, Nitschke Y, Rutsch F, Mottok A, Hansmann M L, Harms E, Louwen F, Schlosser R
Abstract excerpt
Prenatal diagnosis of generalized arterial calcification of infancy (GACI) (OMIM #208000) is difficult and rare. There are various known gene mutations in ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) locus 6q22-q23. We present a case of suspected intrauterine diagnosis at 29 weeks of gestation in a consanguineous couple. The sonographic findings were fetal hydrops (hydrothorax, skin edema, ascites,...
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