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 language | English |
|---|---|
| Pages (from-to) | 75-9 |
| Number of pages | 5 |
| Journal | Genetic Counseling |
| Volume | 1 |
| Issue number | 1 |
| Publication status | Published - 1990 |
Cite this
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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 journal › Article › Academic › peer-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 -