Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate.
Sign Up to like & getrecommendations! Published in 2021 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2021.1952621
Abstract: AIM To report the earliest diagnosis of Vici syndrome in a three-week-old Omani girl. METHODS A three-week-old baby girl with blond hair and agenesis of the corpus callosum was born to consanguineous parents. An older… read more here.
Keywords: ophthalmic findings; diagnosis; vici syndrome; diagnosis vici ... See more keywords
Vici syndrome in Israel: Clinical and molecular insights
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.991721
Abstract: Introduction: Vici Syndrome is a rare, severe, neurodevelopmental/neurodegenerative disorder with multi-systemic manifestations presenting in infancy. It is mainly characterized by global developmental delay, seizures, agenesis of the corpus callosum, hair and skin hypopigmentation, bilateral cataract,… read more here.
Keywords: vici syndrome; syndrome israel; molecular insights; clinical molecular ... See more keywords
A Saudi Infant with Vici Syndrome: Case Report and Literature Review
Sign Up to like & getrecommendations! Published in 2018 at "Open Access Macedonian Journal of Medical Sciences"
DOI: 10.3889/oamjms.2018.271
Abstract: INTRODUCTION: Vici syndrome, a rare autosomal recessive disorder, was first described in 1988 by Vici et al. Only 78 cases have been reported to date. The syndrome is characterised by agenesis of the corpus callosum,… read more here.
Keywords: vici; vici syndrome; syndrome case; infant vici ... See more keywords