Vici syndrome: a review

Table 1 Clinical features of Vici syndrome

	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	+

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

ISSN: 1750-1172