Posterior fossa malformation in fetuses: a report of 56 further cases and a review of the literature

Forzano, Francesca; Mansour, Sahar; Ierullo, A. M.; Homfray, Tessa; Thilaganathan, B.

doi:10.1002/pd.1722

Cited by 56 publications

(59 citation statements)

References 20 publications

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“…However, it is the significance of IECM that remains most controversial principally as there are contradictory data regarding the postnatal clinical significance of this finding. Although there are reports indicating that IECM is typically associated with infants that are normal at birth and in early infancy [21,22,23,24], other studies suggest that there may be implications relating to neurodevelopment [25,26]. These latter studies suggest that although the developmental assessments of motor function in infants diagnosed with IECM fall within the normal range, they are appreciably poorer than infants in whom the CM had been normal.…”

Section: Discussionmentioning

confidence: 48%

Reassessment of the Normal Fetal Cisterna Magna during Gestation and an Alternative Approach to the Definition of Cisterna Magna Dilatation

Brown¹

2013

Fetal Diagn Ther

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Introduction: Cisterna magna (CM) measurement constitutes part of the sonographic assessment of the posterior fossa. CM enlargement (ECM) is defined as a measurement exceeding 10 mm, although it has previously been noted that the CM varies in size with gestation. Existing data do not appear to reflect observations regarding CM biometry within our population and this study was therefore undertaken in order to re-evaluate CM biometry. Materials and Methods: Data from 4,750 normal pregnancies between 15 and 32 weeks of gestation were collected and used to construct a reference range for the CM. Results: Regression analysis was used to model CM across gestational age and thereby define the upper limits for normal CM measurements across gestation. The CM increases with gestation. These data suggest that a 10-mm cut-off underestimates ECM, notably in the gestational age period below 24 weeks, whilst overestimating isolated ECM beyond this. Differences in CM measurements between genders were confirmed (p < 0.0001). Conclusions: Defining ECM based upon a cut-off of 10 mm across all gestations may be inappropriate given the variation observed with gestational age. More accurate identification of fetuses with, in particular, isolated ECM may facilitate more precise evaluation of the clinical significance of this finding.

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Section: Discussionmentioning

confidence: 48%

Reassessment of the Normal Fetal Cisterna Magna during Gestation and an Alternative Approach to the Definition of Cisterna Magna Dilatation

Brown¹

2013

Fetal Diagn Ther

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“…DWM is characterized by a severely hypoplastic cerebellar vermis which is rotated away from the brainstem and a significantly enlarged fourth ventricle in an enlarged posterior skull [50,51]. Although there is cerebellar hypoplasia, DWM is not associated with the "molar tooth" sign of JSRD and in contrast to JSRD, DWM very rarely segregates in large and has a very low recurrence risk families [52] [53].…”

Section: Dandy-walker Malformation and Cerebellar Vermis Hypoplasiamentioning

confidence: 99%

Cerebellar development and disease

Millen¹,

Gleeson²

2008

Current Opinion in Neurobiology

170

141

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The molecular control of cell type specification within the developing cerebellum as well as the genetic causes of the most common human developmental cerebellar disorders have long remained mysterious. Recent genetic lineage and loss-of-function data from mice have revealed unique and non-overlapping anatomical origins for GABAergic neurons from ventricular zone precursors and glutamatergic cell from rhombic lip precursors, mirroring distinct origins for these neurotransmitterspecific cell types in the cerebral cortex. Mouse studies elucidating the role of Ptf1a as a cerebellar ventricular zone GABerigic fate switch were actually preceded by the recognition that PTF1A mutations in humans cause cerebellar agenesis, a birth defect of the human cerebellum. Indeed, several genes for congenital human cerebellar malformations have recently been identified, including genes causing Joubert syndrome, Dandy-Walker malformation and Ponto-cerebellar hypoplasia. These studies have pointed to surprisingly complex roles for transcriptional regulation, mitochondrial function and neuronal cilia in patterning, homeostasis and cell proliferation during cerebellar development. Together mouse and human studies are synergistically advancing our understanding of the developmental mechanisms that generate the uniquely complex mature cerebellum.

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“…Ek yapısal problemlere rastlanmazsa normal bir varyant olarak kabul edilir. Mega sisterna magna'ya nadir olarak ventrikülome-gali, konjenital enfeksiyonlar ya da karyotip anomalileri eşlik edebilir [19,20].…”

Section: Dandy-walker Kompleksi̇unclassified

“…Ayrıca anöploidiler de (trizomi 21 ve 18 gibi) DW malformasyonu ve varyantına eşlik edebilmektedir [20].…”

Section: Dandy-walker Kompleksi̇unclassified

Fetal Kraniyospinal ve Fasiyal Anomaliler

Özkavukçu¹,

Haliloğlu²

2017

Trd Sem

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Posterior fossa malformation in fetuses: a report of 56 further cases and a review of the literature

Abstract: Isolated ECM detected on prenatal scans has a favourable outcome, while DWC is associated with a very high chance of a poor prognosis.

Cited by 56 publications

References 20 publications

Reassessment of the Normal Fetal Cisterna Magna during Gestation and an Alternative Approach to the Definition of Cisterna Magna Dilatation

Reassessment of the Normal Fetal Cisterna Magna during Gestation and an Alternative Approach to the Definition of Cisterna Magna Dilatation

Cerebellar development and disease

Fetal Kraniyospinal ve Fasiyal Anomaliler

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