| Autor: |
Yogesh Chhaparwal, Mathangi Kumar, Shubha Chhaparwal |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Journal of Krishna Institute of Medical Sciences University, Vol 09, Iss 03, Pp 97-101 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2231-4261 |
| Popis: |
Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder characterized by Oculocutaneous Albinism (OCA), platelet disorder, and ceroid accumulation. It is common in North West Puerto Rico region, and the incidence reported is 1/500000. It is a rare genetic disorder with platelet dysfunction resulting in bleeding diathesis. Here we report one such rare case of HPS type 2 in a 7-year-old boy with difficulty in chewing. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
