- Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea
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Choi YC, Yum MS, Kim MJ, Lee YJ, Ko TS
- KMID: 2362279
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S152-S156.
- doi: 10.3345/kjp.2016.59.11.S152
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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- Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)
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Lee D, Jang JH, Lee CG
- KMID: 2451624
- J Genet Med.
- 2019 Jun;16(1):27-30.
- doi: 10.5734/JGM.2019.16.1.27
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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- Commentary on “Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Koreaâ€
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Park SM, Kim BS, Kim MB, Ko HC
- KMID: 2406085
- Korean J Pediatr.
- 2018 Jan;61(1):35-36.
- doi: 10.3345/kjp.2018.61.1.35
No abstract available. -
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- Rehabilitation Treatment of a Child Diagnosed With Duplication of 1q42-q44: A Case Report
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Kim SW, Kim J, Jeon HR, Park MJ, Kim Y
- KMID: 2382927
- Ann Rehabil Med.
- 2016 Oct;40(5):938-942.
- doi: 10.5535/arm.2016.40.5.938
Trisomy 1 is a rare chromosomal anomaly and has never been reported in Korea. Clinical features of trisomy 1 include macrocephaly, prominent forehead, flat nasal bridge, low set ears, and... -
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- Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report
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Lee SH, Ryoo E, Tchah H
- KMID: 2375281
- Pediatr Gastroenterol Hepatol Nutr.
- 2017 Mar;20(1):65-70.
- doi: 10.5223/pghn.2017.20.1.65
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas,... -
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- Three Korean patients with Cantú syndrome caused by mutations in ABCC9 and their clinical manifestations
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Jang JH, Ko JM, Yang SW, Chae JH, Bae EJ
- KMID: 2369027
- J Genet Med.
- 2016 Dec;13(2):99-104.
- doi: 10.5734/JGM.2016.13.2.99
Cantú syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis, neonatal macrosomia, a distinct facial features such as macrocephaly, and cardiac defects.... -
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- US and CT findings of hydranencephaly
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Kim JP, Cha KS, Ryu KN, Lee SH, Lee KW, Cho KS
- KMID: 2359087
- J Korean Radiol Soc.
- 1989 Aug;25(4):626-632.
- doi: 10.3348/jkrs.1989.25.4.626
Hydranencephaly is congenital disorder involving total or near-total absence of cerebrum, but with intactmeninges and cranial vault. CT offered a unique diagnostic tool for the evaluation of these infants, but... -
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- First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)
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Lee CG, Jang JH, Seo JY
- KMID: 2468728
- Ann Pediatr Endocrinol Metab.
- 2019 Dec;24(4):253-256.
- doi: 10.6065/apem.2019.24.4.253
Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most... -
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- Thick Corpus Callosum in Children
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Schupper A, Konen O, Halevy A, Cohen R, Aharoni S, Shuper A
- KMID: 2376018
- J Clin Neurol.
- 2017 Apr;13(2):170-174.
- doi: 10.3988/jcn.2017.13.2.170
BACKGROUND AND PURPOSE: A thick corpus callosum (TCC) can be associated with a very grave outcome in fetuses, but its clinical presentation in older children seems to be markedly different. METHODS:... -
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- A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22
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Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC
- KMID: 2425993
- Ann Lab Med.
- 2017 Nov;37(6):516-521.
- doi: 10.3343/alm.2017.37.6.516
BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in... -
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