A second family with Micro syndrome

Citation
Gr. Criado et al., A second family with Micro syndrome, CLIN DYSMOR, 8(4), 1999, pp. 241-245
Citations number
7
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
8
Issue
4
Year of publication
1999
Pages
241 - 245
Database
ISI
SICI code
0962-8827(199910)8:4<241:ASFWMS>2.0.ZU;2-1
Abstract
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.