Atrophy refers to initially normal cerebellum with progressive increase in size of fissures compared to size of folia
Agenesis refers to absence of structure; may be partial (dysgenesis) or complete
IMAGING
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
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Presentation
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DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
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Selected References
Aldinger KA et al: Redefining the etiologic landscape of cerebellar malformations. Am J Hum Genet. 105(3):606-15, 2019
Atallah A et al: Fetal and perinatal outcome associated with small cerebellar diameter based on second- or third-trimester ultrasonography. Prenat Diagn. 39(7):536-43, 2019
Pertl B et al: The fetal posterior fossa on prenatal ultrasound imaging: normal longitudinal development and posterior fossa anomalies. Ultraschall Med. 40(6):692-721, 2019
Pinchefsky EF et al: Developmental outcomes in children with congenital cerebellar malformations. Dev Med Child Neurol. 61(3):350-8, 2019
Gonçalves FG et al: Tubulinopathies. Top Magn Reson Imaging. 27(6):395-408, 2018
Leibovitz Z et al: The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome. Eur J Paediatr Neurol. 22(6):900-9, 2018
Zou Z et al: Prenatal diagnosis of posterior fossa anomalies: additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia. Prenat Diagn. 38(2):91-8, 2018
D'Antonio F et al: Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal ultrasound: nomenclature, diagnostic accuracy and associated anomalies. Ultrasound Obstet Gynecol. 47(6):690-7, 2016
D'Antonio F et al: Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal imaging (part 2): neurodevelopmental outcome. Ultrasound Obstet Gynecol. 48(1):28-37, 2016
Murakami A et al: A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: a special emphasis on trisomy 18. Pathol Int. 66(1):15-22, 2016
Pinto J et al: Delayed rotation of the cerebellar vermis: an important pitfall in early second trimester fetal MR imaging studies. Ultrasound Obstet Gynecol. 48(1):121-4, 2016
Poretti A et al: Pre- and postnatal neuroimaging of congenital cerebellar abnormalities. Cerebellum. 15(1):5-9, 2016
Hayata K et al: Creation of a cerebellar diameter reference standard and its clinical application to the detection of cerebellar hypoplasia unique to trisomy 18. J Obstet Gynaecol Res. 41(12):1899-904, 2015
Takano M et al: Ratio of fetal anteroposterior to transverse cerebellar diameter for detection of the cerebellar hypoplasia in the second trimester and comparison with trisomy 18. J Obstet Gynaecol Res. 41(11):1757-61, 2015
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TERMINOLOGY
Definitions
Hypoplasia refers to small but complete anatomical structure with congenital volume diminution
Atrophy refers to initially normal cerebellum with progressive increase in size of fissures compared to size of folia
Agenesis refers to absence of structure; may be partial (dysgenesis) or complete
IMAGING
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Natural History & Prognosis
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Reporting Tips
Selected References
Aldinger KA et al: Redefining the etiologic landscape of cerebellar malformations. Am J Hum Genet. 105(3):606-15, 2019
Atallah A et al: Fetal and perinatal outcome associated with small cerebellar diameter based on second- or third-trimester ultrasonography. Prenat Diagn. 39(7):536-43, 2019
Pertl B et al: The fetal posterior fossa on prenatal ultrasound imaging: normal longitudinal development and posterior fossa anomalies. Ultraschall Med. 40(6):692-721, 2019
Pinchefsky EF et al: Developmental outcomes in children with congenital cerebellar malformations. Dev Med Child Neurol. 61(3):350-8, 2019
Gonçalves FG et al: Tubulinopathies. Top Magn Reson Imaging. 27(6):395-408, 2018
Leibovitz Z et al: The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome. Eur J Paediatr Neurol. 22(6):900-9, 2018
Zou Z et al: Prenatal diagnosis of posterior fossa anomalies: additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia. Prenat Diagn. 38(2):91-8, 2018
D'Antonio F et al: Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal ultrasound: nomenclature, diagnostic accuracy and associated anomalies. Ultrasound Obstet Gynecol. 47(6):690-7, 2016
D'Antonio F et al: Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal imaging (part 2): neurodevelopmental outcome. Ultrasound Obstet Gynecol. 48(1):28-37, 2016
Murakami A et al: A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: a special emphasis on trisomy 18. Pathol Int. 66(1):15-22, 2016
Pinto J et al: Delayed rotation of the cerebellar vermis: an important pitfall in early second trimester fetal MR imaging studies. Ultrasound Obstet Gynecol. 48(1):121-4, 2016
Poretti A et al: Pre- and postnatal neuroimaging of congenital cerebellar abnormalities. Cerebellum. 15(1):5-9, 2016
Hayata K et al: Creation of a cerebellar diameter reference standard and its clinical application to the detection of cerebellar hypoplasia unique to trisomy 18. J Obstet Gynaecol Res. 41(12):1899-904, 2015
Takano M et al: Ratio of fetal anteroposterior to transverse cerebellar diameter for detection of the cerebellar hypoplasia in the second trimester and comparison with trisomy 18. J Obstet Gynaecol Res. 41(11):1757-61, 2015
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