Hermansky-Pudlak syndrome in pregnancy: two case studies.
Pregnancies in two patients with Hermansky-Pudlak syndrome, oculocutaneous albinism with hemorrhagic diathesis, are presented. Outcomes were good despite prior reports of postpartum hemorrhage in patients with this syndrome. This autosomal recessive disease is relatively common in parts of Puerto Rico. Suspected patients should be screened with platelet aggregation studies.
D000293:Adolescent; D000328:Adult; D000417:Albinism / Q000150:complications*; D036861:Delivery, Obstetric; D005260:Female; D006474:Hemorrhagic Disorders / Q000150:complications*; D006801:Humans; D011247:Pregnancy; D011248:Pregnancy Complications / Q000209:etiology*; D011647:Puerto Rico / Q000208:ethnology; D013577:Syndrome; D014481:United States