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Fraser Syndrome
Paula J. Woodward, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Cryptophthalmos-syndactyly syndrome (OMIM 219000)

              IMAGING

              • Ultrasonographic Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Presentation

                      • Demographics

                        • Natural History & Prognosis

                          DIAGNOSTIC CHECKLIST

                          • Image Interpretation Pearls

                            Selected References

                            1. Bouaoud J et al: Fraser syndrome: review of the literature illustrated by a historical adult case. Int J Oral Maxillofac Surg. ePub, 2020
                            2. Boussion S et al: Fraser syndrome without cryptophthalmos: Two cases. Eur J Med Genet. 103839, 2020
                            3. Midro AT et al: Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene. Am J Med Genet A. 182(4):773-9, 2020
                            4. Tessier A et al: Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases. Prenat Diagn. 36(13):1270-5, 2016
                            5. Ozemri Sag S et al: A novel mutation in the FRAS1 gene in a patient with Fraser syndrome. Genet Couns. 26(1):21-7, 2015
                            6. Kohl S et al: Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 25(9):1917-22, 2014
                            7. Barisic I et al: Fraser syndrome: epidemiological study in a European population. Am J Med Genet A. 161A(5):1012-8, 2013
                            8. Hoefele J et al: Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1. Gene. 520(2):194-7, 2013
                            9. Mesens T et al: Congenital high airway obstruction syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings. Genet Couns. 24(4):367-71, 2013
                            10. Vogel MJ et al: Mutations in GRIP1 cause Fraser syndrome. J Med Genet. 49(5):303-6, 2012
                            11. Yesilkaya Y et al: MRI findings of intracranial malformations in a case with Fraser syndrome. Clin Dysmorphol. 21(4):234-6, 2012
                            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

                                        • Synonyms

                                          • Cryptophthalmos-syndactyly syndrome (OMIM 219000)

                                        IMAGING

                                        • Ultrasonographic Findings

                                          DIFFERENTIAL DIAGNOSIS

                                            PATHOLOGY

                                            • General Features

                                              CLINICAL ISSUES

                                              • Presentation

                                                • Demographics

                                                  • Natural History & Prognosis

                                                    DIAGNOSTIC CHECKLIST

                                                    • Image Interpretation Pearls

                                                      Selected References

                                                      1. Bouaoud J et al: Fraser syndrome: review of the literature illustrated by a historical adult case. Int J Oral Maxillofac Surg. ePub, 2020
                                                      2. Boussion S et al: Fraser syndrome without cryptophthalmos: Two cases. Eur J Med Genet. 103839, 2020
                                                      3. Midro AT et al: Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene. Am J Med Genet A. 182(4):773-9, 2020
                                                      4. Tessier A et al: Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases. Prenat Diagn. 36(13):1270-5, 2016
                                                      5. Ozemri Sag S et al: A novel mutation in the FRAS1 gene in a patient with Fraser syndrome. Genet Couns. 26(1):21-7, 2015
                                                      6. Kohl S et al: Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 25(9):1917-22, 2014
                                                      7. Barisic I et al: Fraser syndrome: epidemiological study in a European population. Am J Med Genet A. 161A(5):1012-8, 2013
                                                      8. Hoefele J et al: Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1. Gene. 520(2):194-7, 2013
                                                      9. Mesens T et al: Congenital high airway obstruction syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings. Genet Couns. 24(4):367-71, 2013
                                                      10. Vogel MJ et al: Mutations in GRIP1 cause Fraser syndrome. J Med Genet. 49(5):303-6, 2012
                                                      11. Yesilkaya Y et al: MRI findings of intracranial malformations in a case with Fraser syndrome. Clin Dysmorphol. 21(4):234-6, 2012