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Miller-Dieker Syndrome
Brian L. Shaffer, MD; Roya Sohaey, MD
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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

              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

                                    1. Shi X et al: Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray. Ann Hum Genet. 85(2):92-6, 2021
                                    2. Blazejewski SM et al: Neurodevelopmental genetic diseases associated with microdeletions and microduplications of chromosome 17p13.3. Front Genet. 9:80, 2018
                                    3. Dobyns WB et al: PAFAH1B1-associated lissencephaly/subcortical band heterotopia. GeneReviews® [Internet], 2009. Updated August 14, 2014
                                    4. Chen CP et al: Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review. Gene. 532(1):152-9, 2013
                                    5. 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
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    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

                                                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

                                                                      1. Shi X et al: Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray. Ann Hum Genet. 85(2):92-6, 2021
                                                                      2. Blazejewski SM et al: Neurodevelopmental genetic diseases associated with microdeletions and microduplications of chromosome 17p13.3. Front Genet. 9:80, 2018
                                                                      3. Dobyns WB et al: PAFAH1B1-associated lissencephaly/subcortical band heterotopia. GeneReviews® [Internet], 2009. Updated August 14, 2014
                                                                      4. Chen CP et al: Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review. Gene. 532(1):152-9, 2013
                                                                      5. 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