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- W2017994292 abstract "Since its first description by Vici et al. [1988], further reports have continued to broaden the clinical phenotype of this rare multisystem disorder. Main features of agenesis of corpus callosum (ACC), hypopigmentation, immunodeficiency/recurrent infections, cataracts, severe failure to thrive, and profound psychomotor delay have been reported in all cases. An additional feature is the recent evidence for neuromuscular involvement. We describe a female infant with the above core features in whom an initial rapid neurological deterioration and associated transient left ventricular hypertrophy and liver dysfunction was followed by relative clinical stability after ten months of age. This case further underlines the clinical phenotype of Vici syndrome as an early onset neurodegenerative disorder with hypopimentation, recurrent infections and muscle findings indicating myopathic and neurogenic features. © 2011 Wiley Periodicals, Inc." @default.
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- W2017994292 date "2011-09-30" @default.
- W2017994292 modified "2023-10-16" @default.
- W2017994292 title "Vici syndrome-A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy" @default.
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- W2017994292 doi "https://doi.org/10.1002/ajmg.a.34273" @default.
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