Article
Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetuses.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000
Daïkha-Dahmane F, Dommergues M, Narcy F, Gubler M C, Dumez Y, Gauthier E, Nordmann Y, Nessmann C, Terrasse G, Muller F
Abstract excerpt
Congenital erythropoietic porphyria is an autosomal recessive disease characterized by a deficiency of uroporphyrinogen III cosynthetase activity, with diffuse tissue accumulation of specific type I porphyrins. The diagnosis of this disease was made in two fetuses, who were siblings, and from a Caucasian nonconsanguinous family. The first fetus died in utero with hydrops fetalis and anemia, but without an...
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