Vici sendromu
Kalıtsal - AR
Gelişme geriliği
Mikrosefali
Hipertelorizm
İşitme sorunları
Bilateral katarakt
Oküler/retinal hipopigmentasyon
Nistagmus
Mikrognati
Yarık dudak
Yarık damak
Dilate kardiyomyopati
Sol ventrikül hipertrofisi
Kalp yetmezliği bulguları
Yineleyen solunum sistemi infeksiyonları
Albinizm (deri ve saç rengi bulguları)
Deride hipopigmentasyon
Kronik mukokütane candidiasis
Hipotoni
Myopati
Postür bozukluğu
Corpus callosum agenezi
Serebellumda vermis hipoplazisi
Psikomotor gerilik
Epileptik ataklar
Timus hipoplazisi
CD4+ lenfosit azlığı
Yineleyen infeksiyon hastalıkları
IgG düzeyi düşük
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Chiyonobu T, Yoshihara T, Fukushima Y. et al. American Journal of Medical Genetics, 109: 61-66, 2002
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Finocchi A, Angelino G, Cantarutti N, et al. Immunodeficiency in Vici syndrome: a heterogeneous phenotype. American Journal of Medical Genetics, 158A: 434-439, 2012
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Said E, Soler D, Sewry C. Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy. American Journal of Medical Genetics, 158A: 440-444, 2012
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Cullup T, Kho AL, Dionisi-Vici C, et al. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nature Genetics, 45: 83-87, 2013
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Ehmke N, Parvaneh N, Krawitz, P, et al. First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. American Journal of Medical Genetics, 164A: 3170-3175, 2014
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Maillard C, Cavallin M, Piquand, K, et al. Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 (sic) mutation. American Journal of Medical Genetics, 173A: 706-711, 2017