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Am J Perinatol 2009; 26(9): 617-619
DOI: 10.1055/s-0029-1220777
© Thieme Medical Publishers

Hermansky-Pudlak Syndrome in Pregnancy

Jeffrey Spencer1 , Sally Rosengren2
  • 1Obstetrics and Gynecology, University of Connecticut Health Center, Farmington, Connecticut
  • 2Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, Connecticut
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Publication History

Publication Date:
15 April 2009 (online)

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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.

KEYWORDS

Hermansky-Pudlak syndrome - pregnancy - oculocutaneous albinism - bleeding diathesis

REFERENCES

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Jeffrey SpencerM.D. 

Anne Arundel Medical Center, Center for Maternal and Fetal Medicine

820 Bestgate Rd, Suite 26, Annapolis, MD 21401

Email: vahan1000@yahoo.com

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