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Case Reports
. 2011 May;44(5):370-3.
doi: 10.1016/j.pediatrneurol.2010.12.009.

MPPH syndrome: two new cases

Affiliations
Case Reports

MPPH syndrome: two new cases

Wendy L Osterling et al. Pediatr Neurol. 2011 May.

Abstract

This report describes 2 additional cases of megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome, a recently recognized disorder of infants and young children with macrocrania, developmental delay/mental retardation, and often epilepsy. Medulloblastoma, a previously unreported feature in megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome, developed in one child at 3 years of age. Although the disorder is presumed to be genetic, the cause of megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome has not yet been determined.

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