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Walker-Warburg Syndrome
Anne M. 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. 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):372-375, 2015
                                    2. Shen O et al: Prenatal sonographic diagnosis of retinal nonattachment. J Ultrasound Med. 33(6):1095-7, 2014
                                    3. 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
                                    4. Devisme L et al: Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain. 135(Pt 2):469-82, 2012
                                    5. Vuillaumier-Barrot S et al: Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 91(6):1135-43, 2012
                                    6. Kerr SL: A case study on Walker-Warburg syndrome. Adv Neonatal Care. 10(1):21-4, 2010
                                    7. Yazicioglu HF et al: Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. Ultrasound Obstet Gynecol. 35(2):247-9, 2010
                                    8. Chung W et al: Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn. 29(6):560-9, 2009
                                    9. Reed UC: Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. Arq Neuropsiquiatr. 67(1):144-68, 2009
                                    10. Reed UC: Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. Arq Neuropsiquiatr. 67(2A):343-62, 2009
                                    11. Strigini F et al: Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome. Ultrasound Obstet Gynecol. 33(3):363-5, 2009
                                    12. Manzini MC et al: Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat. 29(11):E231-41, 2008
                                    13. Ulfig N et al: Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Warburg syndrome. Neuropathology. 28(3):333-40, 2008
                                    14. Vajsar J et al: Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. Neuromuscul Disord. 18(8):675-7, 2008
                                    15. Bouchet C et al: Molecular heterogeneity in fetal forms of type II lissencephaly. Hum Mutat. 28(10):1020-7, 2007
                                    16. Pratap A et al: The Walker-Warburg syndrome with cleft lip and palate. Singapore Med J. 48(2):e66-7, 2007
                                    17. van Reeuwijk J et al: Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet. 121(6):685-90, 2007
                                    18. Vajsar J et al: Walker-Warburg syndrome. Orphanet J Rare Dis. 1:29, 2006
                                    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. 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):372-375, 2015
                                                                      2. Shen O et al: Prenatal sonographic diagnosis of retinal nonattachment. J Ultrasound Med. 33(6):1095-7, 2014
                                                                      3. 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
                                                                      4. Devisme L et al: Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain. 135(Pt 2):469-82, 2012
                                                                      5. Vuillaumier-Barrot S et al: Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 91(6):1135-43, 2012
                                                                      6. Kerr SL: A case study on Walker-Warburg syndrome. Adv Neonatal Care. 10(1):21-4, 2010
                                                                      7. Yazicioglu HF et al: Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. Ultrasound Obstet Gynecol. 35(2):247-9, 2010
                                                                      8. Chung W et al: Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn. 29(6):560-9, 2009
                                                                      9. Reed UC: Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. Arq Neuropsiquiatr. 67(1):144-68, 2009
                                                                      10. Reed UC: Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. Arq Neuropsiquiatr. 67(2A):343-62, 2009
                                                                      11. Strigini F et al: Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome. Ultrasound Obstet Gynecol. 33(3):363-5, 2009
                                                                      12. Manzini MC et al: Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat. 29(11):E231-41, 2008
                                                                      13. Ulfig N et al: Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Warburg syndrome. Neuropathology. 28(3):333-40, 2008
                                                                      14. Vajsar J et al: Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. Neuromuscul Disord. 18(8):675-7, 2008
                                                                      15. Bouchet C et al: Molecular heterogeneity in fetal forms of type II lissencephaly. Hum Mutat. 28(10):1020-7, 2007
                                                                      16. Pratap A et al: The Walker-Warburg syndrome with cleft lip and palate. Singapore Med J. 48(2):e66-7, 2007
                                                                      17. van Reeuwijk J et al: Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet. 121(6):685-90, 2007
                                                                      18. Vajsar J et al: Walker-Warburg syndrome. Orphanet J Rare Dis. 1:29, 2006