MDS is due to contiguous gene deletion/disruption syndrome of 17p13.3
Abnormal neuronal migration and cortical malformations
Lissencephaly (smooth brain)
Absent gyri (agyria), wide gyri (pachygyria)
Subcortical heterotopia
Leads to severe cognitive/intellectual disability, characteristic craniofacial appearance, seizures
Includes ILS and SBH with overlapping phenotypes
IMAGING
General Features
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Shi X et al: Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray. Ann Hum Genet. 85(2):92-6, 2021
Blazejewski SM et al: Neurodevelopmental genetic diseases associated with microdeletions and microduplications of chromosome 17p13.3. Front Genet. 9:80, 2018
Dobyns WB et al: PAFAH1B1-associated lissencephaly/subcortical band heterotopia. GeneReviews® [Internet], 2009. Updated August 14, 2014
Chen CP et al: Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review. Gene. 532(1):152-9, 2013
Nagamani SC et al: Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 46(12):825-33, 2009
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KEY FACTS
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TERMINOLOGY
Abbreviations
Miller-Dieker syndrome (MDS)
Synonyms
Classic lissencephaly
17p13.3 deletion syndrome
PAFAH1B1-associated lissencephaly
LIS1-associated lissencephaly
Isolated lissencephaly sequence (ILS)
Subcortical band heterotopia (SBH)
Definitions
MDS is due to contiguous gene deletion/disruption syndrome of 17p13.3
Abnormal neuronal migration and cortical malformations
Lissencephaly (smooth brain)
Absent gyri (agyria), wide gyri (pachygyria)
Subcortical heterotopia
Leads to severe cognitive/intellectual disability, characteristic craniofacial appearance, seizures
Includes ILS and SBH with overlapping phenotypes
IMAGING
General Features
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Shi X et al: Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray. Ann Hum Genet. 85(2):92-6, 2021
Blazejewski SM et al: Neurodevelopmental genetic diseases associated with microdeletions and microduplications of chromosome 17p13.3. Front Genet. 9:80, 2018
Dobyns WB et al: PAFAH1B1-associated lissencephaly/subcortical band heterotopia. GeneReviews® [Internet], 2009. Updated August 14, 2014
Chen CP et al: Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review. Gene. 532(1):152-9, 2013
Nagamani SC et al: Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 46(12):825-33, 2009
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