MILLER-DIEKER-SYNDROM

Abstract

The clinical and anthropological features of a 2 9/12 years old boy will be presented, who has a developmental retardation, neurological dysfunction, microcephaly and slight craniofacial anomalies. He was shown to have a lissencephaly and a microdeletion 17p13.3. The findings will be analysed and discussed with respect to the Miller-Dieker syndrome. The boy's phenotype corresponds to the available descriptions of the Miller-Dieker-Syndrome, although his facial features seem not to be very characteristic. On the basis of molecular deletion diagnostics, the 'Miller-Dieker-face' remains to be redefined by future systematic trait analyses.