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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
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
Shen O et al: Prenatal sonographic diagnosis of retinal nonattachment. J Ultrasound Med. 33(6):1095-7, 2014
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
Devisme L et al: Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain. 135(Pt 2):469-82, 2012
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
Kerr SL: A case study on Walker-Warburg syndrome. Adv Neonatal Care. 10(1):21-4, 2010
Yazicioglu HF et al: Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. Ultrasound Obstet Gynecol. 35(2):247-9, 2010
Chung W et al: Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn. 29(6):560-9, 2009
Reed UC: Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. Arq Neuropsiquiatr. 67(1):144-68, 2009
Reed UC: Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. Arq Neuropsiquiatr. 67(2A):343-62, 2009
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
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
Ulfig N et al: Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Warburg syndrome. Neuropathology. 28(3):333-40, 2008
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
Bouchet C et al: Molecular heterogeneity in fetal forms of type II lissencephaly. Hum Mutat. 28(10):1020-7, 2007
Pratap A et al: The Walker-Warburg syndrome with cleft lip and palate. Singapore Med J. 48(2):e66-7, 2007
van Reeuwijk J et al: Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet. 121(6):685-90, 2007
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
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
Shen O et al: Prenatal sonographic diagnosis of retinal nonattachment. J Ultrasound Med. 33(6):1095-7, 2014
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
Devisme L et al: Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain. 135(Pt 2):469-82, 2012
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
Kerr SL: A case study on Walker-Warburg syndrome. Adv Neonatal Care. 10(1):21-4, 2010
Yazicioglu HF et al: Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. Ultrasound Obstet Gynecol. 35(2):247-9, 2010
Chung W et al: Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn. 29(6):560-9, 2009
Reed UC: Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. Arq Neuropsiquiatr. 67(1):144-68, 2009
Reed UC: Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. Arq Neuropsiquiatr. 67(2A):343-62, 2009
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
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
Ulfig N et al: Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Warburg syndrome. Neuropathology. 28(3):333-40, 2008
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
Bouchet C et al: Molecular heterogeneity in fetal forms of type II lissencephaly. Hum Mutat. 28(10):1020-7, 2007
Pratap A et al: The Walker-Warburg syndrome with cleft lip and palate. Singapore Med J. 48(2):e66-7, 2007
van Reeuwijk J et al: Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet. 121(6):685-90, 2007