Literature DB >> 21481746

MPPH syndrome: two new cases.

Wendy L Osterling1, Richard S Boyer, Gary L Hedlund, James F Bale.   

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.
Copyright © 2011 Elsevier Inc. All rights reserved.

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Year:  2011        PMID: 21481746     DOI: 10.1016/j.pediatrneurol.2010.12.009

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  3 in total

Review 1.  Overgrowth Syndromes.

Authors:  Andrew C Edmondson; Jennifer M Kalish
Journal:  J Pediatr Genet       Date:  2015-09-25

2.  Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome.

Authors:  Tara G Zamora; Kari D Roberts
Journal:  BMJ Case Rep       Date:  2013-10-03

3.  Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

Authors:  Ghayda M Mirzaa; Valerio Conti; Andrew E Timms; Christopher D Smyser; Sarah Ahmed; Melissa Carter; Sarah Barnett; Robert B Hufnagel; Amy Goldstein; Yoko Narumi-Kishimoto; Carissa Olds; Sarah Collins; Kathreen Johnston; Jean-François Deleuze; Patrick Nitschké; Kathryn Friend; Catharine Harris; Allison Goetsch; Beth Martin; Evan August Boyle; Elena Parrini; Davide Mei; Lorenzo Tattini; Anne Slavotinek; Ed Blair; Christopher Barnett; Jay Shendure; Jamel Chelly; William B Dobyns; Renzo Guerrini
Journal:  Lancet Neurol       Date:  2015-10-29       Impact factor: 44.182

  3 in total

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