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Published on: November 20, 2015
Hermansky-Pudlak syndrome in pregnancy
Jeffrey Spencer1, Sally Rosengren
1Obstetrics and Gynecology, University of Connecticut Health Center, Farmington, Connecticut, USA. vahan1000@yahoo.com
Abstract:
Hermansky-Pudlak syndrome (HPS) is a multisystem, autosomal-recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in prolonged bleeding, and ceroid lipofuscin deposition. Affected individuals may suffer from blindness, pulmonary fibrosis, colitis, and bleeding diathesis. Although it has been reported in various ethnic groups, HPS is most common in individuals from the northwest corner of Puerto Rico, with a carrier incidence of 1 in 21.
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