| Hermansky-Pudlak syndrome in pregnancy. | |
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MedLine Citation:
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PMID: 19370510 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Jeffrey Spencer; Sally Rosengren |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-04-15 |
Journal Detail:
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Title: American journal of perinatology Volume: 26 ISSN: 1098-8785 ISO Abbreviation: Am J Perinatol Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-09-16 Completed Date: 2010-01-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8405212 Medline TA: Am J Perinatol Country: United States |
Other Details:
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Languages: eng Pagination: 617-9 Citation Subset: IM |
Copyright Information:
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Thieme Medical Publishers. |
Affiliation:
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Obstetrics and Gynecology, University of Connecticut Health Center, Farmington, Connecticut, USA. vahan1000@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Apgar Score Female Gestational Age Hermanski-Pudlak Syndrome / diagnosis*, therapy Humans Infant, Newborn Labor, Induced / methods Monitoring, Physiologic / methods Pregnancy Pregnancy Complications / diagnosis*, therapy Pregnancy Outcome* Pregnancy, High-Risk* Prenatal Care / methods Rare Diseases Risk Assessment Young Adult |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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