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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
- Cabet S et al: Two different prenatal imaging cerebral patterns of tubulinopathies. Ultrasound Obstet Gynecol. 57(3):493-7, 2021
- 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
- Arora V et al: Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation. Autops Case Rep. 9(4):e2019124, 2019
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Dobyns WB et al: Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 32(2):195-210, 1989
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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
- Cabet S et al: Two different prenatal imaging cerebral patterns of tubulinopathies. Ultrasound Obstet Gynecol. 57(3):493-7, 2021
- 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
- Arora V et al: Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation. Autops Case Rep. 9(4):e2019124, 2019
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Dobyns WB et al: Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 32(2):195-210, 1989
