DNA diagnosis and management of Hermansky-Pudlak syndrome in pregnancy.
Am J Perinatol
; 18(3): 159-61, 2001 May.
Article
in En
| MEDLINE
| ID: mdl-11414528
ABSTRACT
Hermansky-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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pregnancy Complications, Hematologic
/
Hermanski-Pudlak Syndrome
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Country/Region as subject:
Caribe
/
Puerto rico
Language:
En
Journal:
Am J Perinatol
Year:
2001
Document type:
Article
Affiliation country:
United States