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

Lorenzo Pavone, Renata Rizzo, Piero Pavone, Paolo Curatolo, William Bill Dobyns

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

We report an infant boy with an apparently new malformation syndrome. The major anomalies showed by the patient include diffuse polymicrogyria, congenital hydrocephalus, craniosynostosis with severe scaphocephaly, severe mental retardation, intractable epilepsy, and minor facial and genital anomalies. Our review of the literature and two computerized dysmorphology databases found some papers reporting polymicrogyria or lissencephaly associated with craniosynostosis or hydrocephalus. None of the reported patients had a phenotype similar to that of our patient.

Original languageEnglish (US)
Pages (from-to)493-495
Number of pages3
JournalJournal of Child Neurology
Volume15
Issue number7
DOIs
StatePublished - Jul 2000

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