Papers: MPPH Syndrome

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Publish Date: June 24, 2012

Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB.

Nat Genet

Tags: genetics (6), Cancer Screening (3), Free Full Text (7), MPPH Syndrome (9), PIK3CA (4)

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

Publish Date: January 06, 2012

Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, Devries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB.

Am J Med Genet A.

Tags: Nomenclature (3), Brain Findings (11), Free Full Text (7), Diagnostic Criteria (5), MPPH Syndrome (9)

Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings.

Publish Date: September 2009

Tore HG, McKinney AM, Nagar VA, Lohman B, Truwit CL, Raybaud C.

AJNR Am J Neuroradiol

Tags: Free Full Text (7), MPPH Syndrome (9)

Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.

Publish Date: May 2009

Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB

Am J Med Genet A

Tags: MPPH Syndrome (9)

Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly.

Publish Date: August 2008

Pisano T, Meloni M, Cianchetti C, Falchi M, Nucaro A, Pruna D.

J Child Neurol

Tags: MPPH Syndrome (9)

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.

Publish Date: August 2007

Garavelli L, Guareschi E, Errico S, Simoni A, Bergonzini P, Zollino M, Gurrieri F, Mancini GM, Schot R, Van Der Spek PJ, Frigieri G, Zonari P, Albertini E, Giustina ED, Amarri S, Banchini G, Dobyns WB, Neri G.

Neuropediatrics

Tags: MPPH Syndrome (9)

A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome.

Publish Date: Nov - Dec 2008

Colombani M, Chouchane M, Pitelet G, Morales L, Callier P, Pinard JP, Lion-François L, Thauvin-Robinet C, Mugneret F, Huet F, Guibaud L, Faivre L.

Eur J Med Genet

Tags: MPPH Syndrome (9)

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

Publish Date: December 2004

Mirzaa G, Dodge NN, Glass I, Day C, Gripp K, Nicholson L, Straub V, Voit T, Dobyns WB.

Neuropediatrics

Tags: MPPH Syndrome (9)