نتایج جستجو برای: griscelli syndrome
تعداد نتایج: 621919 فیلتر نتایج به سال:
We report the radiologic findings in two children with Griscelli syndrome who presented mainly with neurologic findings. Both children were born to consanguineous parents, had normal birth and developmental histories; both had silvery gray hair from the time of birth. The first child presented with symptoms of increased intracranial pressure and cerebellar ataxia; the second child with cerebell...
PURPOSE To study and compare the appearance of hairs from patients with Chédiak-Higashi and Griscelli-Prunieras syndromes under light and polarized light microscopy. METHOD Hairs from 2 Chédiak-Higashi and 2 Griscelli-Prunieras patients were obtained and examined under normal and polarized light microscopy. RESULTS Under light microscopy, hairs from Chédiak-Higashi patients presented evenly...
OBJECTIVE Griscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the f...
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