(Q55055511)

English

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

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Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/22228622

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

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Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/22228622

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William B. Dobyns

11

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Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/22228622

Tally Lerman-Sagie

4

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Tally Lerman-Sagie

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Europe PubMed Central

PubMed publication ID

16 June 2018

7

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Dorit Lev

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Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/22228622

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Karen W Gripp

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Europe PubMed Central

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16 June 2018

http://europepmc.org/abstract/MED/22228622

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Ghayda M Mirzaa

1

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Europe PubMed Central

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16 June 2018

http://europepmc.org/abstract/MED/22228622

Robert L Conway

2

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Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/22228622

Dawn H Siegel

5

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Europe PubMed Central

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16 June 2018

http://europepmc.org/abstract/MED/22228622

Linda S deVries

6

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Europe PubMed Central

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16 June 2018

http://europepmc.org/abstract/MED/22228622

Nancy Kramer

8

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Europe PubMed Central

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16 June 2018

http://europepmc.org/abstract/MED/22228622

Elizabeth Hopkins

9

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Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/22228622

John M Graham

10

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16 June 2018

http://europepmc.org/abstract/MED/22228622

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publication date

6 January 2012

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Europe PubMed Central

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16 June 2018

http://europepmc.org/abstract/MED/22228622

American Journal of Medical Genetics

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PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/22228622

158A

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Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/22228622

2

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PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/22228622

269-291

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Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/22228622

A developmental and genetic classification for malformations of cortical development

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Mega-corpus callosum, polymicrogyria, and psychomotor retardation syndrome

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Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome

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

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Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

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Megalencephaly in NF1: predominantly white matter contribution and mitigation by ADHD.

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A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development.

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21 January 2018

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

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21 January 2018

Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.

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21 January 2018

Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome

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21 January 2018

Macrocephaly-capillary malformation: a report of three cases and review of the literature

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21 January 2018

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

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21 January 2018

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.

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21 January 2018

Megalencephaly, mega corpus callosum, and complete lack of motor development: Delineation of a rare syndrome

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https://api.crossref.org/works/10.1002%2FAJMG.A.34402

21 January 2018

Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features

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21 January 2018

Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review.

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21 January 2018

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

1 reference

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21 January 2018

Language and motor findings in benign megalencephaly.

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21 January 2018

Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?

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21 January 2018

Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation Type I in patients with hereditary disorders of connective tissue

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34402

21 January 2018

MPPH syndrome: two new cases.

1 reference

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21 January 2018

Mega-corpus callosum, polymicrogyria, and psychomotor retardation: confirmation of a syndromic entity

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21 January 2018

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

1 reference

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21 January 2018

Macrocephaly — cutis marmorata telangiectatica congenita

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34402

21 January 2018

Familial megalencephaly or hydrocephalus?

1 reference

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21 January 2018

Megalencephaly and polymicrogyria with polydactyly syndrome.

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

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21 January 2018

Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM).

1 reference

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The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations.

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Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome

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21 January 2018

Identifiers

10.1002/AJMG.A.34402

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/22228622

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/22228622

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