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Microphthalmos
Bernadette L. Koch, MD
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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

            • Other Essential Information

              Selected References

              1. Couser NL et al: Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genet. 38(5):401-12, 2017
              2. Nguyen VD et al: Demystifying orbital emergencies: a pictorial review. Radiographics. 37(3):947-62, 2017
              3. Plaisancie J et al: Genetic advances in microphthalmia. J Pediatr Genet. 5(4):184-8, 2016
              4. Salter CG et al: Expanding the ocular phenotype of 14q terminal deletions: a novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature. Am J Med Genet A. 170A(4):1017-22, 2016
              5. Vachha BA et al: Imaging of pediatric orbital diseases. Neuroimaging Clin N Am. 25(3):477-501, 2015
              6. Brennan D et al: Ocular involvement in fetal alcohol spectrum disorder: a review. Curr Pharm Des. 20(34):5377-87, 2014
              7. Williamson KA et al: The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 57(8):369-80, 2014
              8. Weissman JL et al: Enlarged anterior chamber: CT finding of a ruptured globe. AJNR Am J Neuroradiol. 16(4 Suppl):936-8, 1995
              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

                        • Other Essential Information

                          Selected References

                          1. Couser NL et al: Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genet. 38(5):401-12, 2017
                          2. Nguyen VD et al: Demystifying orbital emergencies: a pictorial review. Radiographics. 37(3):947-62, 2017
                          3. Plaisancie J et al: Genetic advances in microphthalmia. J Pediatr Genet. 5(4):184-8, 2016
                          4. Salter CG et al: Expanding the ocular phenotype of 14q terminal deletions: a novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature. Am J Med Genet A. 170A(4):1017-22, 2016
                          5. Vachha BA et al: Imaging of pediatric orbital diseases. Neuroimaging Clin N Am. 25(3):477-501, 2015
                          6. Brennan D et al: Ocular involvement in fetal alcohol spectrum disorder: a review. Curr Pharm Des. 20(34):5377-87, 2014
                          7. Williamson KA et al: The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 57(8):369-80, 2014
                          8. Weissman JL et al: Enlarged anterior chamber: CT finding of a ruptured globe. AJNR Am J Neuroradiol. 16(4 Suppl):936-8, 1995