Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea |
Choi, Yeon-Chul
(Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Yum, Mi-Sun (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Kim, Min-Jee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Lee, Yun-Jung (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Ko, Tae-Sung (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) |
1 | Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RC, et al. Macrocephaly with cutis marmorata, haemangioma and syndactyly: a distinctive overgrowth syndrome. Clin Dysmorphol 1997;6:291-302. DOI |
2 | Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, et al. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet 1997;70:67-73. DOI |
3 | Toriello HV, Mulliken JB. Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM). Am J Med Genet A 2007;143A:3009. DOI |
4 | Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, et al. Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A 2007;143A:2981-3008. DOI |
5 | Martinez-Glez V, Romanelli V, Mori MA, Gracia R, Segovia M, Gonzalez-Meneses A, et al. Macrocephaly-capillary malformation: analysis of 13 patients and review of the diagnostic criteria. Am J Med Genet A 2010;152A:3101-6. DOI |
6 | Wright DR, Frieden IJ, Orlow SJ, Shin HT, Chamlin S, Schaffer JV, et al. The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations. Arch Dermatol 2009;145:287-93. |
7 | Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, 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;158A:269-91. DOI |
8 | Nellist M, Schot R, Hoogeveen-Westerveld M, Neuteboom RF, van der Louw EJ, Lequin MH, et al. Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. Mol Genet Metab 2015;114:467-73. DOI |
9 | Mirzaa GM, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, et al. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet 2014;46:510-5. DOI |
10 | Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012;44:934-40. DOI |
11 | Garavelli L, Leask K, Zanacca C, Pedori S, Albertini G, Della Giustina E, et al. MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature. Genet Couns 2005;16:117-28. |
12 | Giuliano F, David A, Edery P, Sigaudy S, Bonneau D, Cormier-Daire V, et al. Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. Am J Med Genet A 2004;126A:99-103. DOI |
13 | Mirzaa GM, Riviere JB, Dobyns WB. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. Am J Med Genet C Semin Med Genet 2013;163C:122-30. |
14 | Lapunzina P, Gairi A, Delicado A, Mori MA, Torres ML, Goma A, et al. Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review. Am J Med Genet A 2004;130A:45-51. DOI |
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