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Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)

Lee D, Jang JH, Lee CG

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It...
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Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea

Choi YC, Yum MS, Kim MJ, Lee YJ, Ko TS

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the...
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Megalencephaly-capillary Malformation Syndrome

Park SM, Kim GW, Cho HH, Kim WJ, Mun JH, Song M, Kim HS, Kim BS, Kim MB, Ko HC

  • KMID: 2046266
  • Korean J Dermatol.
  • 2015 Aug;53(7):546-551.
Megalencephaly-capillary malformation syndrome is a disorder characterized by megalencephaly or hemimegalencephaly, focal or generalized somatic overgrowth, and vascular malformations. Other characteristic features are neonatal hypotonia, hydrocephalus, developmental delay, syndactyly/polydactyly, frontal...
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A case of unilateral megalencephaly

Kim WS, Park NS, Song MY, Hyoung UJ, Le JO, Hwang YS

  • KMID: 1690270
  • J Korean Pediatr Soc.
  • 1993 Jun;36(6):877-881.
The unilateral megalencephaly is a rare brain malformation characterized by cerebral asymmetry and cortical dysplasia caused by faulty migration of the subependymal neuroblasts. We experienced a case of unilateral megalencephaly...
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