TY - JOUR
T1 - Chediak-higashi syndrome in pregnancy
AU - Price, Fredric V.
AU - Legro, Richard S.
AU - Watt-Morse, Margaret
AU - Kaplan, Sandra S.
N1 - Copyright:
Copyright 2015 Elsevier B.V., All rights reserved.
PY - 1992/5
Y1 - 1992/5
N2 - We report the first known case of Chediak-Higashi syndrome in human pregnancy. This rare autosomal recessive disorder is characterized by partial oculocutaneous albinism, decreased leukocyte chemotaxis, susceptibility to infection, and death in childhood. Pathognomonic giant cytoplasmic granules are postulated to be dysfunctional fused lysosomes, which influence a wide range of physiologic processes. Pregnancy did not seem to exert any influence on the course of the disease. The pregnancy, labor, and delivery were not affected and the infant and placenta were normal. (Obstet Gynecol 1992;79:8046)
AB - We report the first known case of Chediak-Higashi syndrome in human pregnancy. This rare autosomal recessive disorder is characterized by partial oculocutaneous albinism, decreased leukocyte chemotaxis, susceptibility to infection, and death in childhood. Pathognomonic giant cytoplasmic granules are postulated to be dysfunctional fused lysosomes, which influence a wide range of physiologic processes. Pregnancy did not seem to exert any influence on the course of the disease. The pregnancy, labor, and delivery were not affected and the infant and placenta were normal. (Obstet Gynecol 1992;79:8046)
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M3 - Article
C2 - 1565370
AN - SCOPUS:0026606738
SN - 0029-7844
VL - 79
SP - 804
EP - 806
JO - Obstetrics and gynecology
JF - Obstetrics and gynecology
IS - 5
ER -
