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• W1978841461 abstract "Although a great deal of interest in the genetics and etiology of cerebral, particularly forebrain, malformations has been generated in the past decade, relatively little is known about the basis of congenital malformations of the structures of the posterior fossa, namely the midbrain, cerebellum, pons, and medulla. In this review, we present a classification scheme for malformations of the midbrain and hindbrain based on their embryologic derivation, highlight four of the conditions associated with such abnormalities, and describe the genetics, prognosis, and recurrence risks for each. We describe several disorders in addition to Joubert syndrome with the distinctive radiologic sign known as the molar tooth sign, comprised of midbrain and hindbrain malformations. We discuss Dandy-Walker malformation, its classical definition, and the surprisingly good outcome in the absence of other brain malformations. We consider the heterogeneous entity of cerebellar vermis hypoplasia and describe the recently identified gene associated with an X-linked form of this condition. Finally, the pontocerebellar hypoplasias are discussed in the context of their generally progressive degenerative and severe course, and the differential diagnosis is emphasized. We anticipate that as imaging technologies improve, differentiation of the various disorders should aid in efforts to identify the causative genes." @default.
• W1978841461 created "2016-06-24" @default.
• W1978841461 creator A5002322936 @default.
• W1978841461 creator A5064982358 @default.
• W1978841461 date "2003-09-01" @default.
• W1978841461 modified "2023-09-29" @default.
• W1978841461 title "Human malformations of the midbrain and hindbrain: review and proposed classification scheme" @default.
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• W1978841461 doi "https://doi.org/10.1016/j.ymgme.2003.08.010" @default.
• W1978841461 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14567956" @default.
• W1978841461 hasPublicationYear "2003" @default.
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