Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 97-101 |
| Number of pages | 5 |
| Journal | Journal of Krishna Institute of Medical Sciences University |
| Volume | 9 |
| Issue number | 3 |
| Publication status | Published - 01-07-2020 |
All Science Journal Classification (ASJC) codes
- Medicine(all)