title: MPPH syndrome: two new cases.
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.
authors.affiliation: Department of Pediatrics, the University of Utah School of Medicine, Salt Lake City, Utah, USA.
authors.forename: Wendy L
authors.initials: WL
authors.lastname: Osterling
authors.forename: Richard S
authors.initials: RS
authors.lastname: Boyer
authors.forename: Gary L
authors.initials: GL
authors.lastname: Hedlund
authors.forename: James F
authors.initials: JF
authors.lastname: Bale
mesh_terms: D001921:Brain / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications* / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications* / Q000175:diagnosis; D017689:Polydactyly / Q000150:complications* / Q000473:pathology*; D012640:Seizures / Q000188:drug therapy / Q000209:etiology