Article
Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma.
Prenatal diagnosis - 1 Jan 2003
Pannier E, Viot G, Aubry M C, Grange G, Tantau J, Fallet-Bianco C, Muller F, Cabrol D
Abstract excerpt
Congenital erythropoietic porphyria (CEP) or Günther's disease is the rarest form of the porphyrias. The disease is usually diagnosed at birth or during early infancy, but rarely in utero. We describe here the first two cases of very early prenatal expression of CEP with cystic hygroma diagnosed at 14 weeks in the first fetus and at 19 weeks in the second. Both fetuses presented with severe nonimmune hydrops...
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