Document Detail

Malformations of the midbrain and hindbrain: a retrospective study and review of the literature.
MedLine Citation:
PMID:  19337779     Owner:  NLM     Status:  MEDLINE    
We report the results of a retrospective analysis of radiological and clinical findings in 45 cases of midbrain-hindbrain anomalies and review recent advances in embryology and molecular neurogenetics. Among 45 patients with midbrain-hindbrain malformations, 16 cases of molar tooth malformation, 12 of cerebellar hypoplasia, ten of posterior fossa cyst and cerebellar vermian hypoplasia, three of rhombencephalosynapsis, two of Fukuyama congenital muscular dystrophy and two cases of isolated cerebellar dysplasia were identified. Twenty-six patients presented with motor-mental retardation, which was the most common clinical finding. Eleven patients were born to consanguineous parents. The correct diagnosis of cerebellar malformation is important for determining prognosis, the risk of recurrence and the need for genetic counselling. Integrated classification of malformations based on morphology, embryology and molecular neurogenetics may be useful.
Ozlem Alkan; Osman Kizilkilic; Tulin Yildirim
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Publication Detail:
Type:  Journal Article; Review     Date:  2009-04-01
Journal Detail:
Title:  Cerebellum (London, England)     Volume:  8     ISSN:  1473-4230     ISO Abbreviation:  Cerebellum     Publication Date:  2009 Sep 
Date Detail:
Created Date:  2009-08-28     Completed Date:  2009-11-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101089443     Medline TA:  Cerebellum     Country:  United States    
Other Details:
Languages:  eng     Pagination:  355-65     Citation Subset:  IM    
Department of Radiology, Medical School, Baskent University, Ankara, Turkey.
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MeSH Terms
Child, Preschool
Congenital Abnormalities / pathology*,  radiography
Magnetic Resonance Imaging / methods
Mesencephalon / abnormalities*,  pathology*,  radiography
Retrospective Studies
Rhombencephalon / abnormalities*,  pathology*,  radiography
Tomography Scanners, X-Ray Computed
Young Adult

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