Brief Observations
A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

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Case reports

We admitted 49 Hermansky-Pudlak syndrome patients to the NIH Clinical Center under an Institutional Review Board-approved protocol (24). Patient 40, aged 20 years, and patient 42, aged 25 years, were brothers who had normal gestations, deliveries, and birth weights. Bilateral congenital hip dislocations, due to dysplastic acetabulae, required closed reduction in patient 40 and splinting in patient 42. The family was of Dutch origin with no known consanguinity or miscarriages. The brothers’

Discussion

We describe two brothers with oculocutaneous albinism, a bleeding tendency, mild pulmonary fibrosis, recurrent upper respiratory tract infections in childhood with persistent neutropenia, congenital hip dislocations, a mild balance defect and radial opacities of the ocular lens. Absence of platelet dense bodies supports the diagnosis of Hermansky-Pudlak syndrome (4), and the dermatologic, ocular, and pulmonary findings are reminiscent of a defect in HPS-1(Table 2)(24). However, frequent

Acknowledgements

Dr. Alvin Zipursky of the Hospital for Sick Children in Toronto, Ontario, cared for the 2 patients reported in this paper and first suggested the diagnosis of Hermansky-Pudlak syndrome or Chediak-Higashi syndrome. Drs. Michael Gorin of the University of Pittsburgh and Richard Swank of Roswell Park Cancer Institute kindly offered prepublication information concerning the mouse β3A gene. The authors appreciate the ophthalmologic consultation of Drs. Muriel I. Kaiser-Kupfer, Fumino Iwata, and

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