Hydrops fetalis associated with red cell pyruvate kinase deficiency

R C Hennekam, F A Beemer, B P Cats, G Jansen, G E Staal

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Pages (from-to)75-9
Number of pages5
JournalGenetic Counseling
Volume1
Issue number1
Publication statusPublished - 1990

Cite this

Hennekam, R C ; Beemer, F A ; Cats, B P ; Jansen, G ; Staal, G E. / Hydrops fetalis associated with red cell pyruvate kinase deficiency. In: Genetic Counseling. 1990 ; Vol. 1, No. 1. pp. 75-9.
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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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year = "1990",
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issn = "1015-8146",
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Hydrops fetalis associated with red cell pyruvate kinase deficiency. / Hennekam, R C; Beemer, F A; Cats, B P; Jansen, G; Staal, G E.

In: Genetic Counseling, Vol. 1, No. 1, 1990, p. 75-9.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Hydrops fetalis associated with red cell pyruvate kinase deficiency

AU - Hennekam, R C

AU - Beemer, F A

AU - Cats, B P

AU - Jansen, G

AU - Staal, G E

PY - 1990

Y1 - 1990

N2 - 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.

AB - 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.

KW - Erythrocytes/enzymology

KW - Fetal Death

KW - Humans

KW - Hydrops Fetalis/enzymology

KW - Male

KW - Pyruvate Kinase/deficiency

KW - Twins

M3 - Article

VL - 1

SP - 75

EP - 79

JO - Genetic Counseling

JF - Genetic Counseling

SN - 1015-8146

IS - 1

ER -