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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
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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
- Abnormal neuronal migration and cortical malformations
- MDS is due to contiguous gene deletion/disruption syndrome of 17p13.3
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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References
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Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
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
- Abnormal neuronal migration and cortical malformations
- MDS is due to contiguous gene deletion/disruption syndrome of 17p13.3
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
