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Microcephaly
Chang Yueh Ho, MD; Susan I. Blaser, MD, FRCPC
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DIFFERENTIAL DIAGNOSIS

    ESSENTIAL INFORMATION

    • Key Differential Diagnosis Issues

      • Helpful Clues for Common Diagnoses

        • Helpful Clues for Less Common Diagnoses

          • Helpful Clues for Rare Diagnoses

            Selected References

            1. Khetarpal P et al: Primordial dwarfism: overview of clinical and genetic aspects. Mol Genet Genomics. 291(1):1-15, 2016
            2. Gul A et al: Novel protein-truncating mutations in the aspm gene in families with autosomal recessive primary microcephaly. J Neurogenet. 21(3):153-63, 2007
            3. Hassan MJ et al: Previously described sequence variant in CDK5RAP2 gene in a pakistani family with autosomal recessive primary microcephaly. BMC Med Genet. 2007
            4. Kure-Kageyama H et al: A patient with simplified gyral pattern followed by progressive brain atrophy. Brain Dev. 29(6):383-6, 2007
            5. Ornoy A et al: Fetal effects of primary and secondary cytomegalovirus infection in pregnancy. Reprod Toxicol. 21(4):399-409, 2006
            6. Tang BL: Molecular genetic determinants of human brain size. Biochem Biophys Res Commun. 345(3):911-6, 2006
            7. Sztriha L et al: Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. J Child Neurol. 20(2):170-2, 2005
            8. Abdel-Salam GM et al: Aicardi-Goutieres syndrome: clinical and neuroradiological findings of 10 new cases. Acta Paediatr. 93(7):929-36, 2004
            9. de Vries LS et al: The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection. Neuropediatrics. 35(2):113-9, 2004
            10. Riley EP et al: Teratogenic effects of alcohol: a decade of brain imaging. Am J Med Genet C Semin Med Genet. 127(1):35-41, 2004
            Related Anatomy
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            Related Differential Diagnoses
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            References
            Tables

            Tables

            DIFFERENTIAL DIAGNOSIS

              ESSENTIAL INFORMATION

              • Key Differential Diagnosis Issues

                • Helpful Clues for Common Diagnoses

                  • Helpful Clues for Less Common Diagnoses

                    • Helpful Clues for Rare Diagnoses

                      Selected References

                      1. Khetarpal P et al: Primordial dwarfism: overview of clinical and genetic aspects. Mol Genet Genomics. 291(1):1-15, 2016
                      2. Gul A et al: Novel protein-truncating mutations in the aspm gene in families with autosomal recessive primary microcephaly. J Neurogenet. 21(3):153-63, 2007
                      3. Hassan MJ et al: Previously described sequence variant in CDK5RAP2 gene in a pakistani family with autosomal recessive primary microcephaly. BMC Med Genet. 2007
                      4. Kure-Kageyama H et al: A patient with simplified gyral pattern followed by progressive brain atrophy. Brain Dev. 29(6):383-6, 2007
                      5. Ornoy A et al: Fetal effects of primary and secondary cytomegalovirus infection in pregnancy. Reprod Toxicol. 21(4):399-409, 2006
                      6. Tang BL: Molecular genetic determinants of human brain size. Biochem Biophys Res Commun. 345(3):911-6, 2006
                      7. Sztriha L et al: Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. J Child Neurol. 20(2):170-2, 2005
                      8. Abdel-Salam GM et al: Aicardi-Goutieres syndrome: clinical and neuroradiological findings of 10 new cases. Acta Paediatr. 93(7):929-36, 2004
                      9. de Vries LS et al: The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection. Neuropediatrics. 35(2):113-9, 2004
                      10. Riley EP et al: Teratogenic effects of alcohol: a decade of brain imaging. Am J Med Genet C Semin Med Genet. 127(1):35-41, 2004