Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Definition:
References:
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[1]. G Mirzaa, et al. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics. 2004 Dec;35(6):353-9. [Content Brief]
[2]. Ghayda M Mirzaa, et al. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A. 2012 Feb;158A(2):269-91. [Content Brief]
[3]. Ghayda Mirzaa, et al. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014 May;46(5):510-515. [Content Brief]
[4]. Gozde Akgumus, et al. Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway. J Mol Diagn. 2017 Jul;19(4):487-497. [Content Brief]
[5]. Jean-Baptiste Rivière, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24;44(8):934-40. [Content Brief]
[6]. Tara G Zamora, et al. Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. BMJ Case Rep. 2013 Oct 3;2013:bcr2012007826. [Content Brief]
[7]. Yutaka Negishi, et al. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. BMC Med Genet. 2017 Jan 13;18(1):4. [Content Brief]
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