Hydrops fetalis associated with red cell pyruvate kinase deficiency |
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| Authors: | R C Hennekam F A Beemer B P Cats G Jansen G E Staal |
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| Affiliation: | Clinical Genetics Center Utrecht, The Netherlands. |
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| Abstract: | A hydrops fetalis and multicystic encephalomalacia were diagnosed in a neonate who was one of twins. The co-twin had died 5 weeks prior to delivery. The most likely explantation for both hydrops and multicystic encephalomalacia was fetal anemia caused by a red cell pyruvate kinase deficiency, and aggravated by an intrauterine disseminated intravascular coagulation. |
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