- 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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- Mixed Quadriplegia with Lissencephaly and Dysmyelination
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Moon JL, Jung KH, Kang SY
- KMID: 2136715
- J Korean Acad Rehabil Med.
- 2001 Apr;25(2):330-335.
Lissencephaly results from a neuromigrational arrest during first and second trimester of pregnancy and shows hypotonia, marked mental retardation and seizure as predominant features. Myelination is a perinatal process and... -
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- Miller-Dieker Syndrome in an Extremely Low Birth Weight Infant
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Park SJ, Lee NR, Bae MH, Han YM, Byun SY, Park KH
- KMID: 2409125
- Perinatology.
- 2017 Dec;28(4):162-165.
- doi: 10.14734/PN.2017.28.4.162
Miller-Dieker syndrome (MDS) is characterized by severe lissencephaly and facial dysmorphism including the prominent forehead, bitemporal hollowing, a short nose with upturned nares, a protuberant upper lip, and a small... -
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- A Case of Lissencephaly Dignosed by Magnetic Resonance Imaging
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Park IY, Kim HJ, Kim J, Ahn HY, Shin JC, Kim SP
- KMID: 1838164
- Korean J Perinatol.
- 2003 Dec;14(4):433-437.
Lissencephaly is a rare disorder that is characterized by the disorganized and unlayered cortex. The cause of this disorder is related to chromosomal abnormalities or infection. The pathogenesis of lissencephaly... -
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- A Case of Miller-Dieker Syndrome with Infantile Spasm and Lennox-Gastaut Syndrome
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Na JM, Park CH, Yoo EJ, Jung K, Kim KS, Kim YW, Kim EY
- KMID: 2059409
- J Korean Child Neurol Soc.
- 2008 May;16(1):86-91.
Miller-Dieker syndrome is a contiguous gene deletion syndrome involving chromosome 17p13.3, which is characterized by type 1(classical) lissencephaly and typical craniofacial abnormalities. Children with Miller-Dieker syndrome have profound psychomotor retardation,... -
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- Type 1 Lissencephaly with Ocular Abnormality and Cranial Nerve Palsies
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Seo IA, Cho SY, Choi SM
- KMID: 2409127
- Perinatology.
- 2017 Dec;28(4):171-176.
- doi: 10.14734/PN.2017.28.4.171
Lissencephaly is a cerebral cortical malformation characterized by partial to total loss of gyri and sulci of brain leading to mental retardation and epilepsy. It is caused by failure of... -
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- A Case of Miller-Dieker Syndrome
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Cho SJ, Lee TG, Kim EY, Noh YI, Park SK
- KMID: 1898290
- J Korean Soc Neonatol.
- 2000 Nov;7(2):194-198.
Miller-Dieker Syndrome consists of severe type I lissencephaly and a characteristic abnormal facial appearance at birth and may progress to severe neurologic defects such as intractable seizure and growth failure.... -
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- A Case Report of Miller-Dieker Syndrome
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Cho GJ, Oh MJ, Kwon JA, Kim KA, Lee JK, Hur JY, Saw HS, Park YG
- KMID: 2280560
- Korean J Perinatol.
- 2005 Jun;16(2):181-186.
Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly (lissencephaly type 1) and distinct facial features. Children with MDS present with severe developmental... -
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- Comparing Two Diagnostic Laboratory Tests for Several Microdeletions Causing Mental Retardation Syndromes: Multiplex Ligation-Dependent Amplification vs Fluorescent In Situ Hybridization
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Cho EH, Park BY, Cho JH, Kang YS
- KMID: 1781597
- Korean J Lab Med.
- 2009 Feb;29(1):71-76.
- doi: 10.3343/kjlm.2009.29.1.71
BACKGROUND: Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure... -
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- A Forensic Autopsy Case of Lissencephaly for Evaluating the Possibility of Child Abuse
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Park SH, Hwang JJ, Ko KS, Kim SH, Ko TS, Jeong MH, Lee EH, Ha HI, Seo JS
- KMID: 1433184
- Korean J Leg Med.
- 2013 May;37(2):84-89.
- doi: 10.7580/kjlm.2013.37.2.84
A 9-year-old Korean boy with lissencephaly was found dead at home. He had previously been diagnosed with lissencephaly that presented with infantile spasm on the basis of magnetic resonance imaging... -
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- A Case of Miller-Dieker Syndrome without Characteristic Facial Anomaly
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Kong SY, Han SH, Yang JH, Kim EJ, Kim SH, Lee KH, Lee M
- KMID: 2305443
- Korean J Lab Med.
- 2004 Jun;24(3):194-197.
Miller-Dieker syndrome is a multiple malformation syndrome characterized by severe lissencephaly and characteristic facial abnormalities at birth. It is associated with visible or submicroscopic deletions within chromosome 17p13.3 including PAFAH1B1... -
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- Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Disorder
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Shin S, Yu N, Choi JR, Jeong S, Lee KA
- KMID: 2369767
- Ann Lab Med.
- 2015 Sep;35(5):510-518.
- doi: 10.3343/alm.2015.35.5.510
BACKGROUND: All over the world, chromosomal microarray (CMA) is now the first tier diagnostic assay for genetic testing to evaluate developmental delay (DD), mental retardation (MR), and autism spectrum disorder... -
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- Miller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3
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Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH
- KMID: 1096661
- Korean J Lab Med.
- 2011 Jan;31(1):49-53.
- doi: 10.3343/kjlm.2011.31.1.49
Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by... -
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