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Walker-Warburg Syndrome
Anne Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Walker-Warburg syndrome (WWS)
            • Definitions

              • Autosomal recessive syndrome of congenital muscular dystrophy associated with brain and eye abnormalities

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Cabet S et al: Two different prenatal imaging cerebral patterns of tubulinopathies. Ultrasound Obstet Gynecol. 57(3):493-7, 2021
                                    2. Darouich S et al: Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: a novel association. J Clin Ultrasound. 48(4):235-9, 2020
                                    3. Arora V et al: Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation. Autops Case Rep. 9(4):e2019124, 2019
                                    4. Geis T et al: Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. Orphanet J Rare Dis. 14(1):179, 2019
                                    5. Katorza E et al: Fetal brain anomalies detection during the first trimester: expanding the scope of antenatal sonography. J Matern Fetal Neonatal Med. 31(4):506-12, 2018
                                    6. Leibovitz Z et al: Walker-Warburg syndrome and tectocerebellar dysraphia: a novel association caused by a homozygous DAG1 mutation. Eur J Paediatr Neurol. 22(3):525-31, 2018
                                    7. Powis Z et al: Postmortem diagnostic exome sequencing identifies a de novo TUBB3 alteration in a newborn with prenatally diagnosed hydrocephalus and suspected Walker-Warburg syndrome. Pediatr Dev Pathol. 21(3):319-23, 2018
                                    8. Nabhan MM et al: Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: intrafamilial phenotypic variability in four siblings and review of literature. Am J Med Genet A. 173(10):2697-702, 2017
                                    9. Achiron R et al: Very early in-utero diagnosis of Walker-Warburg phenotype: the cutting edge of technology. Ultrasound Int Open. 2(2):E54-7, 2016
                                    10. Lacalm A et al: Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern. Ultrasound Obstet Gynecol. 47(1):117-22, 2016
                                    11. Trkova M et al: ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome. Eur J Med Genet. 58(8):372-5, 2015
                                    12. Shen O et al: Prenatal sonographic diagnosis of retinal nonattachment. J Ultrasound Med. 33(6):1095-7, 2014
                                    13. Brasseur-Daudruy M et al: Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound. Pediatr Radiol. 42(4):488-90, 2012
                                    14. Dobyns WB et al: Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 32(2):195-210, 1989
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Walker-Warburg syndrome (WWS)
                                              • Definitions

                                                • Autosomal recessive syndrome of congenital muscular dystrophy associated with brain and eye abnormalities

                                              IMAGING

                                              • General Features

                                                • Ultrasonographic Findings

                                                  • MR Findings

                                                    • Imaging Recommendations

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Cabet S et al: Two different prenatal imaging cerebral patterns of tubulinopathies. Ultrasound Obstet Gynecol. 57(3):493-7, 2021
                                                                      2. Darouich S et al: Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: a novel association. J Clin Ultrasound. 48(4):235-9, 2020
                                                                      3. Arora V et al: Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation. Autops Case Rep. 9(4):e2019124, 2019
                                                                      4. Geis T et al: Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. Orphanet J Rare Dis. 14(1):179, 2019
                                                                      5. Katorza E et al: Fetal brain anomalies detection during the first trimester: expanding the scope of antenatal sonography. J Matern Fetal Neonatal Med. 31(4):506-12, 2018
                                                                      6. Leibovitz Z et al: Walker-Warburg syndrome and tectocerebellar dysraphia: a novel association caused by a homozygous DAG1 mutation. Eur J Paediatr Neurol. 22(3):525-31, 2018
                                                                      7. Powis Z et al: Postmortem diagnostic exome sequencing identifies a de novo TUBB3 alteration in a newborn with prenatally diagnosed hydrocephalus and suspected Walker-Warburg syndrome. Pediatr Dev Pathol. 21(3):319-23, 2018
                                                                      8. Nabhan MM et al: Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: intrafamilial phenotypic variability in four siblings and review of literature. Am J Med Genet A. 173(10):2697-702, 2017
                                                                      9. Achiron R et al: Very early in-utero diagnosis of Walker-Warburg phenotype: the cutting edge of technology. Ultrasound Int Open. 2(2):E54-7, 2016
                                                                      10. Lacalm A et al: Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern. Ultrasound Obstet Gynecol. 47(1):117-22, 2016
                                                                      11. Trkova M et al: ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome. Eur J Med Genet. 58(8):372-5, 2015
                                                                      12. Shen O et al: Prenatal sonographic diagnosis of retinal nonattachment. J Ultrasound Med. 33(6):1095-7, 2014
                                                                      13. Brasseur-Daudruy M et al: Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound. Pediatr Radiol. 42(4):488-90, 2012
                                                                      14. Dobyns WB et al: Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 32(2):195-210, 1989