منابع مشابه
Neuro-Behçets in a Child
We describe a case of neuro-Behçet disease diagnosed in a 12-year-old girl. This patient presented with recurrent oral ulcers, incontinence, spastic gait, blurry vision, and asymmetrical lower extremity hypertonia. Extensive testing revealed punctate lesions through the central nervous system, vitritis, papillitis, and uveitis. A thorough infectious and neoplastic workup was negative. She was t...
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Marfan syndrome (MFS) is a genetic disorder which is inherited by autosomal dominant traits. In MFS, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. In this case study, the ocular involvement in a family with severe penetration of MFS is reported. Twelve members of a family (father, two daughters, three sons...
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Chez une fillette de 8 ans, la decouverte d'une hyper-bilirubinemie indirecte, sans atteinte hepatique, sans signe d'hemolyse. a conduit a une enquete farniliale. Dans la famille paternelle, ii n 'existait aucun cas d'ictere, et le [aux de la bilirubinemie etait nJrmal chez le pere et chez le grand-pere. La bilirubinemie indirecte de la mere montrait une legere augmentation, celle d'un on...
متن کاملA family with Bart-Pumphrey syndrome
All member of family referred to our clinic complaining of white nails. Physical examination revealed clinical features of leukonychia totalis and also the presence of sensor ineural hearing loss (SNHL), palmoplantar keratoderma (PPK) and knuckle pads, the four essential criteria for the diagnosis of Bart Pumphrey syndrome. Three generations were affected with variable presentations in ma...
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ژورنال
عنوان ژورنال: Balkan Medical Journal
سال: 2018
ISSN: 2146-3123,2146-3131
DOI: 10.4274/balkanmedj.2018.1723