- a case of type II lissencephaly; Walker-Earburg syndrome
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Kim AY, Lee JH, Kim YS, Cho KS, Jo JD
- KMID: 1691611
- J Korean Pediatr Soc.
- 1991 Nov;34(11):1598-1604.
No abstract available. -
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- A Case of Walker-Warburg Syndrome Presented with Seizures
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Kim SK, Lee JY, Kim YH, Lee IG
- KMID: 2176847
- J Korean Child Neurol Soc.
- 2010 Nov;18(2):332-337.
Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, brain (lissencephaly, hydrocephalus, cerebellar malformations) and retinal abnormalities, and is associated with mental retardation and seizures.... -
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- A case of Fukuyama type congenital muscular dystrophy
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Lee YE, Kim MH, Lee K, Chung EC, Koo HS
- KMID: 1690866
- J Korean Pediatr Soc.
- 1992 Oct;35(10):1463-1468.
No abstract available. -
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- Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report
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Oh JS, Ahn KJ, Kim JY, Lee SJ, Park JM
- KMID: 2097893
- J Korean Soc Radiol.
- 2010 Sep;63(3):201-203.
- doi: 10.3348/jksr.2010.63.3.201
Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation,... -
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- A Case of Fukuyama Congenital Muscular Dystrophy
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Huh J, Kim KJ, Ko TS, Kim DW, Hwang SH, Hwang YS, Kim IO, Chi JG
- KMID: 1957411
- J Korean Neurol Assoc.
- 1992 Sep;10(3):388-394.
Fukuyama congenital muscular dystrophy, first described by Fukuyama et al. In 1960, is an autosomal recessively inherited muscular dystrophy associated with severe mental retardation. We experienced a case of Fukuyama... -
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- MR Imaging of Fukuyama Congenital Muscular Dystrophy: A Case Report
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Yoo J, Kim Y, Koo H, Park KD
- KMID: 2200638
- J Korean Radiol Soc.
- 2000 Nov;43(5):629-633.
- doi: 10.3348/jkrs.2000.43.5.629
Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is... -
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- Merosin-Deficient Congenital Muscular Dystrophy with Polymicrogyria and Subcortical Heterotopia: A Case Report
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Han YM, Lee NR, Bae MH, Park KH, Shin JH, Kim DS, Byun SY
- KMID: 2350288
- Neonatal Med.
- 2016 Aug;23(3):173-177.
- doi: 10.5385/nm.2016.23.3.173
This paper reports the brain magnetic resonance imaging (MRI) findings of a case of merosin-deficient congenital muscular dystrophy (MDCMD) in a neonate and discusses the spectrum of brain involvement in... -
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- A Child With Muscle-eye-brain Disease
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Lee E, Kim JH, Hwang JM
- KMID: 2212071
- J Korean Ophthalmol Soc.
- 2009 Feb;50(2):318-323.
- doi: 10.3341/jkos.2009.50.2.318
PURPOSE: To describe a child with muscle-eye-brain disease as the first case report in Korea. CASE SUMMARY: A 35-month-old girl presented with esotropia and nystagmus since birth. She was born with... -
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