Case Reports in Genetics / 2011 / Article / Tab 1

Case Report

Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

Table 1

Summary of clinical and imaging findings in patients with Vici syndrome.

Previous reportsPatient 1Patient 2Total

Sex8 males, 4 femalesMaleFemale9 males, 5 females
Poor growth12/12++14/14
Developmental delay12/12++14/14
Atypical facies12/12+13/14
Cataracts9/12++11/14
Palatal abnormalities8/12++10/14
Hypopigmentation12/12++14/14
ACC12/12++14/14
Seizures7/12++9/14
Hypotonia12/12++14/14
Cardiomyopathy11/12++13/14
Recurrent infections/immune deficiency11/12++13/14

+ Indicates presence of symptom.
— Indicates absence of symptom.

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