Matches in SemOpenAlex for { <https://semopenalex.org/work/W2004355476> ?p ?o ?g. }
Showing items 1 to 56 of
56
with 100 items per page.
- W2004355476 endingPage "2244" @default.
- W2004355476 startingPage "2242" @default.
- W2004355476 abstract "In this issue of Brain, Barth et al . present four case histories of children with a constellation of symptoms representative of a new brainstem malformation and associated syndrome, calling it ‘pontine tegmental cap dysplasia’ (PTCD: Barth et al ., 2007; p. 2258). This new malformation appears to be part of the ‘molar tooth’ family of brainstem anomalies, although with some unique characteristics that differentiate PTCD from inclusion in the Joubert spectrum of disorders for which the molar tooth sign has been considered a pathognomonic finding. Thus it is worth considering that PTCD may be a novel category within the classification of midbrain and hindbrain malformations, as recently proposed (Parisi and Dobyns, 2003; Table 1). View this table: Table 1 Classification scheme for malformations of mid-hindbrain development (adopted from Parisi and Dobyns, 2003)The four children profiled in the paper were unrelated to each other and none were the products of consanguineous unions. Their malformations were all discovered as part of routine referral to paediatric neurology. MRI performed on all four children revealed the molar tooth malformation, vermal hypoplasia, absent inferior olivary prominences, near-absence of the middle cerebral peduncles, flattening of the ventral pons and peaking of the pontine tegmentum (referred to as the ‘cap’ in the name for this malformation).Despite all four children having these findings, their neurological examination seemed to vary widely. Two were able to ambulate: three used sign language; and one had no purposeful movement and was severely delayed. All four children failed hearing tests, interpreted as indicating cranial nerve VIII involvement. There was variable involvement …" @default.
- W2004355476 created "2016-06-24" @default.
- W2004355476 creator A5012657605 @default.
- W2004355476 creator A5049108786 @default.
- W2004355476 date "2007-09-01" @default.
- W2004355476 modified "2023-09-26" @default.
- W2004355476 title "Classifying a novel brain malformation" @default.
- W2004355476 cites W1978841461 @default.
- W2004355476 cites W1988081373 @default.
- W2004355476 cites W1988196067 @default.
- W2004355476 cites W2087458763 @default.
- W2004355476 cites W2095913712 @default.
- W2004355476 cites W2116713316 @default.
- W2004355476 cites W2139913482 @default.
- W2004355476 cites W2154616416 @default.
- W2004355476 cites W2166217974 @default.
- W2004355476 doi "https://doi.org/10.1093/brain/awm194" @default.
- W2004355476 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17711979" @default.
- W2004355476 hasPublicationYear "2007" @default.
- W2004355476 type Work @default.
- W2004355476 sameAs 2004355476 @default.
- W2004355476 citedByCount "4" @default.
- W2004355476 countsByYear W20043554762014 @default.
- W2004355476 countsByYear W20043554762023 @default.
- W2004355476 crossrefType "journal-article" @default.
- W2004355476 hasAuthorship W2004355476A5012657605 @default.
- W2004355476 hasAuthorship W2004355476A5049108786 @default.
- W2004355476 hasBestOaLocation W20043554761 @default.
- W2004355476 hasConcept C15744967 @default.
- W2004355476 hasConcept C169760540 @default.
- W2004355476 hasConcept C71924100 @default.
- W2004355476 hasConceptScore W2004355476C15744967 @default.
- W2004355476 hasConceptScore W2004355476C169760540 @default.
- W2004355476 hasConceptScore W2004355476C71924100 @default.
- W2004355476 hasIssue "9" @default.
- W2004355476 hasLocation W20043554761 @default.
- W2004355476 hasLocation W20043554762 @default.
- W2004355476 hasOpenAccess W2004355476 @default.
- W2004355476 hasPrimaryLocation W20043554761 @default.
- W2004355476 hasRelatedWork W1489783725 @default.
- W2004355476 hasRelatedWork W1506200166 @default.
- W2004355476 hasRelatedWork W2039318446 @default.
- W2004355476 hasRelatedWork W2048182022 @default.
- W2004355476 hasRelatedWork W2080531066 @default.
- W2004355476 hasRelatedWork W2604872355 @default.
- W2004355476 hasRelatedWork W2748952813 @default.
- W2004355476 hasRelatedWork W2899084033 @default.
- W2004355476 hasRelatedWork W3032375762 @default.
- W2004355476 hasRelatedWork W3108674512 @default.
- W2004355476 hasVolume "130" @default.
- W2004355476 isParatext "false" @default.
- W2004355476 isRetracted "false" @default.
- W2004355476 magId "2004355476" @default.
- W2004355476 workType "article" @default.