• Am J Perinatol · May 2001

    Case Reports

    DNA diagnosis and management of Hermansky-Pudlak syndrome in pregnancy.

    • J R Wax, S Rosengren, E Spector, A J Gainey, and C J Ingardia.
    • Department of Obstetrics and Gynecology, Hartford Hospital, Connecticut, USA.
    • Am J Perinatol. 2001 May 1; 18 (3): 159-61.

    AbstractHermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), platelet storage pool deficiency, and ceroid lipofuscin deposition. Sequelae including pulmonary fibrosis, colitis, and hemorrhagic diathesis can impact obstetric management. An 18-year-old primigravida with OCA was diagnosed during pregnancy with Hermansky-Pudlak syndrome by DNA analysis. Uneventful vaginal delivery occurred at term following prophylactic platelet transfusion. Women of northwestern Puerto Rican descent with OCA should be offered testing for HPS. Identification of affected individuals may permit optimal obstetric management.

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