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:: Volume 26, Issue 2 (4-2021) ::
__Armaghane Danesh__ 2021, 26(2): 0-0 Back to browse issues page
A Case Report of Hermansky-Pudlak Syndrome
Khalil Khashei Varnamkhasti 1, Marzieh Alipour2
1- university , Khalil.khashei2016@gmail.com
2- university
Abstract:   (122 Views)
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease caused by underlying defects in protein trafficking. HPS is characterized by oculo-cutaneous albinism, a platelet storage pool deficiency and resultant bleeding diathesis. In this article, a term male neonate with Hermansky-Pudlak syndrome, born of a 28-year-old mother, was reported. On initial examination by a pediatrician, oculo-cutaneous albinism was observed with nystagmus and bruising of the cheek. The result of a request to count the babychr('39')s thrombocytes (platelets) based on thrombocytopenia confirmed his involvement with the syndrome.
Keywords: Hermansky-Pudlak, Albinism, HPS
Type of Study: case report | Subject: Clinical
Received: 2020/08/9 | Accepted: 2021/01/10 | Published: 2021/05/8
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Khashei Varnamkhasti K, Alipour M. A Case Report of Hermansky-Pudlak Syndrome. Armaghane danesh. 2021; 26 (2)
URL: http://armaghanj.yums.ac.ir/article-1-2874-en.html

Volume 26, Issue 2 (4-2021) Back to browse issues page
ارمغان دانش Armaghane danesh
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