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Pediatrics
Differential Diagnosis
Brain
Congenital Cerebellar Malformation
Congenital Cerebellar Malformation
Bernadette L. Koch, MD
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DIFFERENTIAL DIAGNOSIS

    ESSENTIAL INFORMATION

    • Helpful Clues for Common Diagnoses

      • Helpful Clues for Less Common Diagnoses

        • Helpful Clues for Rare Diagnoses

          Selected References

          1. Romaniello R et al: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. Eur Radiol. 27(12):5080-92, 2017
          2. Cotes C et al: Congenital basis of posterior fossa anomalies. Neuroradiol J. 28(3):238-53, 2015
          3. Oegema R et al: Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. Hum Mol Genet. 24(18):5313-25, 2015
          4. Poretti A et al: Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet. 166(2):211-26, 2014
          5. Sattar S et al: The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Dev Med Child Neurol. 53(9):793-8, 2011
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          References
          Tables

          Tables

          DIFFERENTIAL DIAGNOSIS

            ESSENTIAL INFORMATION

            • Helpful Clues for Common Diagnoses

              • Helpful Clues for Less Common Diagnoses

                • Helpful Clues for Rare Diagnoses

                  Selected References

                  1. Romaniello R et al: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. Eur Radiol. 27(12):5080-92, 2017
                  2. Cotes C et al: Congenital basis of posterior fossa anomalies. Neuroradiol J. 28(3):238-53, 2015
                  3. Oegema R et al: Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. Hum Mol Genet. 24(18):5313-25, 2015
                  4. Poretti A et al: Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet. 166(2):211-26, 2014
                  5. Sattar S et al: The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Dev Med Child Neurol. 53(9):793-8, 2011