Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies

We report an infant boy with an apparently new malformation syndrome. The m ajor anomalies showed by the patient include diffuse polymicrogyria, congen ital hydrocephalus, craniosynostosis with severe scaphocephaly, severe ment al retardation, intractable epilepsy, and minor facial and genital anomalie s. Our review of the literature and two computerized dysmorphology database s found some papers reporting polymicrogyria or lissencephaly associated wi th craniosynostosis or hydrocephalus. None of the reported patients had a p henotype similar to that of our patient.