Hermansky-Pudlak Syndrome: A Case Report

Hermansky-Pudlak Syndrome; a Case Report

PURPOSE To report a case of Hermansky-Pudlak syndrome. CASE REPORT A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosp...

Case Report Hermansky-Pudlak Syndrome: Report of a Case and Review of the Literature

Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

Hermansky-pudlak syndrome: report of a case and review of the literature.

Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.

Abstract # 197: Multiple Gestation in a Patient with Hermansky-Pudlak Syndrome

197 Multiple Gestation in a Patient with Hermansky-Pudlak Syndrome Abstract Type: Case Report/Case Series Lisa A. Rhodes, M.D.; John J. Kowalczyk, B.Sc.; Bridget M. Marroquin, M.D. Strong Memorial Hospital, University of RochesterType: Case Report/Case Series Lisa A. Rhodes, M.D.; John J. Kowalczyk, B.Sc.; Bridget M. Marroquin, M.D. Strong Memorial Hospital, University of Rochester Hermansky-Pu...