A developmental and genetic classification for malformations of cortical development: update 2012

AJ Barkovich, R Guerrini, RI Kuzniecky, GD Jackson… - Brain, 2012 - academic.oup.com
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

Cerebral cortex expansion and folding: what have we learned?

V Fernández, C Llinares‐Benadero, V Borrell - The EMBO journal, 2016 - embopress.org
One of the most prominent features of the human brain is the fabulous size of the cerebral
cortex and its intricate folding. Cortical folding takes place during embryonic development …

Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: two closely related disorders …

GM Mirzaa, RL Conway, KW Gripp… - American Journal of …, 2012 - Wiley Online Library
The macrocephaly‐capillary malformation syndrome (M‐CM), which we here propose to
rename the megalencephaly‐capillary malformation syndrome (MCAP; alternatively the …

Megalencephaly syndromes and activating mutations in the PI3K‐AKT pathway: MPPH and MCAP

GM Mirzaa, JB RIVIÈRE… - American Journal of …, 2013 - Wiley Online Library
The megalencephaly‐polymicrogyria‐polydactyly‐hydrocephalus (MPPH) and
megalencephaly‐capillary malformation (MCAP) syndromes are highly recognizable and …

Systematic approach to pediatric macrocephaly

J Huang, A Sarma, S Little, S Pruthi - RadioGraphics, 2023 - pubs.rsna.org
Macrocephaly, defined as a head circumference greater than 2 standard deviations above
the mean, is a relatively common presenting symptom in the pediatric population at routine …

[HTML][HTML] MPPH syndrome

G Mirzaa - 2022 - europepmc.org
MPPH (megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus) syndrome is
a developmental brain disorder characterized by megalencephaly (brain overgrowth) with …

MPPH syndrome: two new cases

WL Osterling, RS Boyer, GL Hedlund, JF Bale Jr - Pediatric neurology, 2011 - Elsevier
This report describes 2 additional cases of megalencephaly and perisylvian polymicrogyria
with postaxial polydactyly and hydrocephalus syndrome, a recently recognized disorder of …

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report

A Kariminejad, F Radmanesh, A Rezayi… - Journal of child …, 2013 - journals.sagepub.com
This report describes a case of megalencephaly-polymicrogyria-polydactyly-hydrocephalus
syndrome in a 1-year-old boy, born to healthy nonconsanguineous parents …

Prenatal diagnosis of MPPH syndrome

B De Keersmaecker, H Van Esch… - Prenatal …, 2013 - Wiley Online Library
We report the prenatal sonographic detection of a fetus with megalencephaly,
polymicrogyria, postaxial polydactyly and hydrocephaly. Only 14 patients have been …

[PDF][PDF] Megalencephaly, polymicrogyria, polydactyly and hydrocephalus (mpph) syndrome: a new case with occipital encephalocele and cleft palate

N Demir, E Peker, I Gülşen, S Kaba, O Tuncer - Genet Couns, 2015 - researchgate.net
Megalencephaly, polymicrogyrıa, polydactyly and hydrocephalus (MPPH) syndrome: a new
case with occipital encephalocele and cleft palate: The megalencephaly, polymicrogyria …