We present the cases of two sisters, daughters of healthy, non-consanguineo
us parents, who have a clinical syndrome characterized by microcephaly, cor
tical dysplasia, ventriculomegaly, hypoplasia of the corpus callosum, hypog
enesis of the cerebellar vermis, cataracts, microphthalmia, optic nerve atr
ophy retinal coloboma, weight and height below 3rd centile, severe mental r
etardation, no speech, inability to sit, no sphincter control and a spastic
tetraparesis. The facies are mildly dysmorphic, but not distinctive. No me
tabolic, nor chromosomal anomalies were found. The cases are very similar t
o, but not identical, to those described by Warburg et al [Am J Med Genet (
1993) 147:1309-1312] as Micro syndrome. Clin Dysmorphol 8: 241-245 (C) 1999
Lippincott Williams & Wilkins.