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Table 1 Clinical features of Vici syndrome

From: Vici syndrome: a review

  Feature Frequency
Principal diagnostic features Absent corpus callosum ++++
Profound developmental delay ++++
Failure to thrive ++++
Hypopigmentation ++++
Immune problems ++++
Progressive microcephaly +++
Cardiomyopathy +++
Cataracts +++
Other features Presentation in neonatal period +++
Myopathy +++
Seizures ++
Absent reflexes (probable neuropathy) ++
Thymic aplasia +
Sensorineural deafness +
Optic atrophy +
Renal tubular acidosis +
Cleft lip/palate +
Coarse facial features +
Hepatomegaly +
  1. The 5 features initially considered to be diagnostic are indicated in italics. ++++ = present in almost all children, +++ = present in most children, ++ = present in more than half of children, + = present in some children