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Obstetrics
Diagnosis
Brain
Cortical Developmental Anomalies
Schizencephaly
Schizencephaly
Emily Edwards, MD
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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Definitions
Gray matter-lined cleft extending from brain surface to ventricle
Closed lip (type 1)
Parallel gray matter lips in contact with each other
Open lip (type 2)
Gray matter lips separated by intervening cerebral spinal fluid (CSF)
CSF extends to underlying ventricle
IMAGING
General Features
Ultrasonographic Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Shannon P et al: Brain and placental pathology in fetal COL4A1 related disease. Pediatr Dev Pathol. 1093526620984083, 2021
Maurice P et al: COL4A1 and COL4A2 mutations: when to test a fetus? Ultrasound Obstet Gynecol. ePub, 2020
Braga VL et al: Schizencephaly: a review of 734 patients. Pediatr Neurol. 87:23-9, 2018
Griffiths PD: Schizencephaly revisited. Neuroradiology. 60(9):945-60, 2018
Khalid R et al: COL4A1 and fetal vascular origins of schizencephaly. Neurology. 90(5):232-4, 2018
Rege SV et al: Bilateral giant open-lip schizencephaly: a rare case report. J Pediatr Neurosci. 11(2):128-30, 2016
Halabuda A et al: Schizencephaly-diagnostics and clinical dilemmas. Childs Nerv Syst. 31(4):551-6, 2015
Kutuk MS et al: Prenatal diagnosis and postnatal outcome of schizencephaly. J Child Neurol. 30(10):1388-94, 2014
Nabavizadeh SA et al: Correlation of prenatal and postnatal MRI findings in schizencephaly. AJNR Am J Neuroradiol. 35(7):1418-24, 2014
Lee W et al: Prenatal diagnostic challenges and pitfalls for schizencephaly. J Ultrasound Med. 28(10):1379-84, 2009
Oh KY et al: Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations. Radiographics. 25(3):647-57, 2005
Packard AM et al: Schizencephaly: correlations of clinical and radiologic features. Neurology. 48(5):1427-34, 1997
Barkovich AJ et al: Schizencephaly: correlation of clinical findings with MR characteristics. AJNR Am J Neuroradiol. 13(1):85-94, 1992
Komarniski CA et al: Prenatal diagnosis of schizencephaly. J Ultrasound Med. 9(5):305-7, 1990
Barkovich AJ et al: MR imaging of schizencephaly. AJR Am J Roentgenol. 150(6):1391-6, 1988
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
Definitions
Gray matter-lined cleft extending from brain surface to ventricle
Closed lip (type 1)
Parallel gray matter lips in contact with each other
Open lip (type 2)
Gray matter lips separated by intervening cerebral spinal fluid (CSF)
CSF extends to underlying ventricle
IMAGING
General Features
Ultrasonographic Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Shannon P et al: Brain and placental pathology in fetal COL4A1 related disease. Pediatr Dev Pathol. 1093526620984083, 2021
Maurice P et al: COL4A1 and COL4A2 mutations: when to test a fetus? Ultrasound Obstet Gynecol. ePub, 2020
Braga VL et al: Schizencephaly: a review of 734 patients. Pediatr Neurol. 87:23-9, 2018
Griffiths PD: Schizencephaly revisited. Neuroradiology. 60(9):945-60, 2018
Khalid R et al: COL4A1 and fetal vascular origins of schizencephaly. Neurology. 90(5):232-4, 2018
Rege SV et al: Bilateral giant open-lip schizencephaly: a rare case report. J Pediatr Neurosci. 11(2):128-30, 2016
Halabuda A et al: Schizencephaly-diagnostics and clinical dilemmas. Childs Nerv Syst. 31(4):551-6, 2015
Kutuk MS et al: Prenatal diagnosis and postnatal outcome of schizencephaly. J Child Neurol. 30(10):1388-94, 2014
Nabavizadeh SA et al: Correlation of prenatal and postnatal MRI findings in schizencephaly. AJNR Am J Neuroradiol. 35(7):1418-24, 2014
Lee W et al: Prenatal diagnostic challenges and pitfalls for schizencephaly. J Ultrasound Med. 28(10):1379-84, 2009
Oh KY et al: Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations. Radiographics. 25(3):647-57, 2005
Packard AM et al: Schizencephaly: correlations of clinical and radiologic features. Neurology. 48(5):1427-34, 1997
Barkovich AJ et al: Schizencephaly: correlation of clinical findings with MR characteristics. AJNR Am J Neuroradiol. 13(1):85-94, 1992
Komarniski CA et al: Prenatal diagnosis of schizencephaly. J Ultrasound Med. 9(5):305-7, 1990
Barkovich AJ et al: MR imaging of schizencephaly. AJR Am J Roentgenol. 150(6):1391-6, 1988
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