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An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature

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Title: An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature
Authors: Ishikawa, Takaki takaki@med.osaka-cu.ac.jp, Zhu, Bao-Li1, Li, Dong-Ri1, Zhao, Dong1, Michiue, Tomomi1, Maeda, Hitoshi1
Source: Forensic Science International. Aug2008, Vol. 179 Issue 2/3, pe67-e73. 0p.
Subjects: Infant death, Forensic pathology, Neurodegeneration, Epilepsy
Abstract: Abstract: The present report describes the unexpected death of a 6-month-old female infant who had been clinically diagnosed with Joubert syndrome. This is a relatively rare congenital neurological disorder characterized by hypoplasia/aplasia of cerebellar vermis, which transmits information from the body to the cerebellum, and is associated with respiratory dysfunction, abnormal eye movements, and developmental delay. The infant was found dead in bed and the immediate cause of death was determined as aspiration of vomit which may have been induced by a neurological disorder related to hypoplasia of the cerebellar vermis. These findings, together with a review of previous clinical case reports, suggest that Joubert syndrome should be considered as a predisposition to sudden unexpected death in infants mainly due to aspiration or complicated infection. [Copyright &y& Elsevier]
Copyright of Forensic Science International is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Engineering Source
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DbLabel: Engineering Source
An: 33388116
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature
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  Data: <searchLink fieldCode="AR" term="%22Ishikawa%2C+Takaki%22">Ishikawa, Takaki</searchLink><i> takaki@med.osaka-cu.ac.jp</i><br /><searchLink fieldCode="AR" term="%22Zhu%2C+Bao-Li%22">Zhu, Bao-Li</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Li%2C+Dong-Ri%22">Li, Dong-Ri</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Zhao%2C+Dong%22">Zhao, Dong</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Michiue%2C+Tomomi%22">Michiue, Tomomi</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Maeda%2C+Hitoshi%22">Maeda, Hitoshi</searchLink><relatesTo>1</relatesTo>
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  Data: <searchLink fieldCode="JN" term="%22Forensic+Science+International%22">Forensic Science International</searchLink>. Aug2008, Vol. 179 Issue 2/3, pe67-e73. 0p.
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  Data: <searchLink fieldCode="DE" term="%22Infant+death%22">Infant death</searchLink><br /><searchLink fieldCode="DE" term="%22Forensic+pathology%22">Forensic pathology</searchLink><br /><searchLink fieldCode="DE" term="%22Neurodegeneration%22">Neurodegeneration</searchLink><br /><searchLink fieldCode="DE" term="%22Epilepsy%22">Epilepsy</searchLink>
– Name: Abstract
  Label: Abstract
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  Data: Abstract: The present report describes the unexpected death of a 6-month-old female infant who had been clinically diagnosed with Joubert syndrome. This is a relatively rare congenital neurological disorder characterized by hypoplasia/aplasia of cerebellar vermis, which transmits information from the body to the cerebellum, and is associated with respiratory dysfunction, abnormal eye movements, and developmental delay. The infant was found dead in bed and the immediate cause of death was determined as aspiration of vomit which may have been induced by a neurological disorder related to hypoplasia of the cerebellar vermis. These findings, together with a review of previous clinical case reports, suggest that Joubert syndrome should be considered as a predisposition to sudden unexpected death in infants mainly due to aspiration or complicated infection. [Copyright &y& Elsevier]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Forensic Science International is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=egs&AN=33388116
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        Value: 10.1016/j.forsciint.2008.06.003
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      – SubjectFull: Neurodegeneration
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