Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2012 2
2013 5
2014 6
2015 7
2016 4
2017 3
2018 5
2019 2
2020 6
2021 6
2022 11
2023 7
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

57 results

Results by year

Filters applied: . Clear all
Page 1
Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature.
Alamar M, Candela S, Flor-Goikoetxea A, Salvador H, Martinez-Monseny AF, Muchart J, Hinojosa J. Alamar M, et al. Childs Nerv Syst. 2021 Aug;37(8):2441-2449. doi: 10.1007/s00381-021-05222-8. Epub 2021 May 28. Childs Nerv Syst. 2021. PMID: 34047857 Review.
PURPOSE: We describe our series of 4 patients with megalencephaly-capillary malformation syndrome (MCAP) and review the literature in order to assess the optimal treatment for the associated hydrocephalus. ...RESULTS: Of our patients treated with ventr …
PURPOSE: We describe our series of 4 patients with megalencephaly-capillary malformation syndrome (MCAP) and rev …
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder.
Sarma K, Nayak MK, Mishra B, Gaikwad SB. Sarma K, et al. Cureus. 2022 May 18;14(5):e25123. doi: 10.7759/cureus.25123. eCollection 2022 May. Cureus. 2022. PMID: 35733479 Free PMC article.
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is an uncommon malformation syndrome, characterized by primary megalencephaly, capillary malformations of the midline face and body, or distal limb …
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is an uncommon malformation syndr …
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.
Choi YC, Yum MS, Kim MJ, Lee YJ, Ko TS. Choi YC, et al. Korean J Pediatr. 2016 Nov;59(Suppl 1):S152-S156. doi: 10.3345/kjp.2016.59.11.S152. Epub 2016 Nov 30. Korean J Pediatr. 2016. PMID: 28018470 Free PMC article.
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation s …
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis mar …
Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis.
Fortin O, Ashour M, Lacroix C, Sabapathy CA, Myers KA. Fortin O, et al. Can J Neurol Sci. 2020 Nov;47(6):828-829. doi: 10.1017/cjn.2020.127. Epub 2020 Jun 23. Can J Neurol Sci. 2020. PMID: 32631464
Megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome (OMIM #602501) is characterized by megalencephaly, midline capillary malformations, and cortical malformations. This genetic overgrowth syndrome is associated wit …
Megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome (OMIM #602501) is characterized by megalenc …
Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia.
Deleu T, Jansen K, Calenbergh FV. Deleu T, et al. Surg Neurol Int. 2022 May 20;13:211. doi: 10.25259/SNI_1016_2021. eCollection 2022. Surg Neurol Int. 2022. PMID: 35673641 Free PMC article.
BACKGROUND: Megalencephaly-capillary malformation (M-CM) syndrome is a rare overgrowth syndrome characterized by macrocephaly, port-wine stains, asymmetric brain growth, hydrocephalus, and developmental delay. Cerebellar tonsil herniation is oft …
BACKGROUND: Megalencephaly-capillary malformation (M-CM) syndrome is a rare overgrowth syndrome character …
Prenatal diagnosis and delivery of megalencephaly-capillary malformation syndrome.
Porwal M, Anderson D, Razzak AN, Fitzgerald G. Porwal M, et al. BMJ Case Rep. 2022 Dec 26;15(12):e249587. doi: 10.1136/bcr-2022-249587. BMJ Case Rep. 2022. PMID: 36572450
We report a case outlining the prenatal diagnostic process and obstetric considerations for delivering an infant with HME secondary to megalencephaly-capillary malformation syndrome. After diagnosis, our patient was induced and delivered at 37 weeks of …
We report a case outlining the prenatal diagnostic process and obstetric considerations for delivering an infant with HME secondary to me …
PIK3CA-Related Overgrowth Spectrum.
Mirzaa G, Graham JM Jr, Keppler-Noreuil K. Mirzaa G, et al. 2013 Aug 15 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2013 Aug 15 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 23946963 Free Books & Documents. Review.
Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital …
Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues …
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG. Keppler-Noreuil KM, et al. Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31. Am J Med Genet A. 2015. PMID: 25557259 Free PMC article.
Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoli …
Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO) …
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.
Davis S, Ware MA, Zeiger J, Deardorff MA, Grand K, Grimberg A, Hsu S, Kelsey M, Majidi S, Matthew RP, Napier M, Nokoff N, Prasad C, Riggs AC, McKinnon ML, Mirzaa G. Davis S, et al. Am J Med Genet A. 2020 Jan;182(1):162-168. doi: 10.1002/ajmg.a.61403. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729162 Free PMC article.
Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in …
Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical …
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.
Park HJ, Shin CH, Yoo WJ, Cho TJ, Kim MJ, Seong MW, Park SS, Lee JH, Sim NS, Ko JM. Park HJ, et al. Orphanet J Rare Dis. 2020 Aug 10;15(1):205. doi: 10.1186/s13023-020-01480-y. Orphanet J Rare Dis. 2020. PMID: 32778138 Free PMC article.
BACKGROUND: Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) belongs to a group of conditions called the PIK3CA-related overgrowth spectrum (PROS). ...Arnold-Chiari type I malformation was also seen in 10 patients. Every pati …
BACKGROUND: Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) belongs to a group of condition …
57 results