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Archives of Disease in Childhood 1989;64:1391-1393
Copyright © 1989 BMJ Publishing Group Ltd & Royal College of Paediatrics and Child Health
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Archives of Disease in Childhood, Vol 64, 1391-1393, Copyright © 1989 by Archives of Disease in Childhood.

PAPERS

Fetal ascites: an unusual presentation of Niemann-Pick disease type C

IK Maconochie, S Chong, G Mieli-Vergani, BD Lake and AP Mowat
Department of Child Health, King's College Hospital, London.

Two infants were seen with severe ascites detected before birth, a previously unreported presentation of Niemann-Pick disease type C. In the second infant no diagnostic storage cells were present in bone marrow. Confirmatory investigations were prompted by experience of the first case.




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