Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders

ABSTRACT Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, parti...

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Published inUltrasound in obstetrics & gynecology Vol. 43; no. 2; pp. 227 - 232
Main Authors Quarello, E., Molho, M., Garel, C., Couture, A., Legac, M. P., Moutard, M. L., Bault, J. P., Fallet‐Bianco, C., Guibaud, L.
Format Journal Article
LanguageEnglish
Published Chichester, UK John Wiley & Sons, Ltd 01.02.2014
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Abstract ABSTRACT Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, particularly the fourth ventricle, in seven fetuses affected by JSRD. In three cases abnormality of the fourth ventricle was isolated and in four cases there were associated malformations. The molar tooth sign (MTS) was always present and visible on two‐dimensional ultrasound and, when performed, on three‐dimensional ultrasound and magnetic resonance imaging. The fourth ventricle was always abnormal, in both axial and sagittal views, presenting pathognomonic deformities. It is important to identify JSRD, preferably prenatally or at least postnatally, due to its high risk of recurrence of about 25%. A detailed prenatal assessment of the fourth ventricle in several views may help to achieve this goal. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.
AbstractList ABSTRACT Joubert syndrome and related disorders ( JSRD ) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, particularly the fourth ventricle, in seven fetuses affected by JSRD . In three cases abnormality of the fourth ventricle was isolated and in four cases there were associated malformations. The molar tooth sign ( MTS ) was always present and visible on two‐dimensional ultrasound and, when performed, on three‐dimensional ultrasound and magnetic resonance imaging. The fourth ventricle was always abnormal, in both axial and sagittal views, presenting pathognomonic deformities. It is important to identify JSRD , preferably prenatally or at least postnatally, due to its high risk of recurrence of about 25%. A detailed prenatal assessment of the fourth ventricle in several views may help to achieve this goal. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd .
ABSTRACT Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, particularly the fourth ventricle, in seven fetuses affected by JSRD. In three cases abnormality of the fourth ventricle was isolated and in four cases there were associated malformations. The molar tooth sign (MTS) was always present and visible on two‐dimensional ultrasound and, when performed, on three‐dimensional ultrasound and magnetic resonance imaging. The fourth ventricle was always abnormal, in both axial and sagittal views, presenting pathognomonic deformities. It is important to identify JSRD, preferably prenatally or at least postnatally, due to its high risk of recurrence of about 25%. A detailed prenatal assessment of the fourth ventricle in several views may help to achieve this goal. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.
Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, particularly the fourth ventricle, in seven fetuses affected by JSRD. In three cases abnormality of the fourth ventricle was isolated and in four cases there were associated malformations. The molar tooth sign (MTS) was always present and visible on two-dimensional ultrasound and, when performed, on three-dimensional ultrasound and magnetic resonance imaging. The fourth ventricle was always abnormal, in both axial and sagittal views, presenting pathognomonic deformities. It is important to identify JSRD, preferably prenatally or at least postnatally, due to its high risk of recurrence of about 25%. A detailed prenatal assessment of the fourth ventricle in several views may help to achieve this goal.
Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, particularly the fourth ventricle, in seven fetuses affected by JSRD. In three cases abnormality of the fourth ventricle was isolated and in four cases there were associated malformations. The molar tooth sign (MTS) was always present and visible on two-dimensional ultrasound and, when performed, on three-dimensional ultrasound and magnetic resonance imaging. The fourth ventricle was always abnormal, in both axial and sagittal views, presenting pathognomonic deformities. It is important to identify JSRD, preferably prenatally or at least postnatally, due to its high risk of recurrence of about 25%. A detailed prenatal assessment of the fourth ventricle in several views may help to achieve this goal. Copyright copyright 2013 ISUOG. Published by John Wiley & Sons Ltd.
Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family of disorders is a member of an emerging class of diseases called ciliopathies. We describe the abnormal features of the brain, particularly the fourth ventricle, in seven fetuses affected by JSRD. In three cases abnormality of the fourth ventricle was isolated and in four cases there were associated malformations. The molar tooth sign (MTS) was always present and visible on two-dimensional ultrasound and, when performed, on three-dimensional ultrasound and magnetic resonance imaging. The fourth ventricle was always abnormal, in both axial and sagittal views, presenting pathognomonic deformities. It is important to identify JSRD, preferably prenatally or at least postnatally, due to its high risk of recurrence of about 25%. A detailed prenatal assessment of the fourth ventricle in several views may help to achieve this goal. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [PUBLICATION ABSTRACT]
Author Quarello, E.
Moutard, M. L.
Guibaud, L.
Molho, M.
Couture, A.
Bault, J. P.
Fallet‐Bianco, C.
Garel, C.
Legac, M. P.
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Issue 2
Keywords molar tooth sign
MRI
cerebellar vermis
posterior fossa
ultrasound
ciliopathy
Language English
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Snippet ABSTRACT Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem....
Joubert syndrome and related disorders (JSRD) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem. This family...
ABSTRACT Joubert syndrome and related disorders ( JSRD ) are characterized by absence or underdevelopment of the cerebellar vermis and a malformed brainstem....
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wiley
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SubjectTerms Abnormalities, Multiple
Cerebellar Diseases - diagnosis
Cerebellar Diseases - diagnostic imaging
cerebellar vermis
Cerebellum - abnormalities
ciliopathy
Eye Abnormalities - diagnosis
Eye Abnormalities - diagnostic imaging
Female
Fourth Ventricle - abnormalities
Fourth Ventricle - diagnostic imaging
Gestational Age
Humans
Imaging, Three-Dimensional
Kidney Diseases, Cystic - diagnosis
Kidney Diseases, Cystic - diagnostic imaging
Magnetic Resonance Imaging - methods
molar tooth sign
MRI
posterior fossa
Pregnancy
Prenatal Diagnosis - methods
Retina - abnormalities
Retina - diagnostic imaging
Ultrasonography, Prenatal - methods
ultrasound
Title Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders
URI https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fuog.12567
https://www.ncbi.nlm.nih.gov/pubmed/23868831
https://www.proquest.com/docview/1494093700
https://search.proquest.com/docview/1499115690
https://search.proquest.com/docview/1560134551
Volume 43
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