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Syndromic agenesis of the corpus callosum

Syndromic agenesis of the corpus callosum

Imene Boujelbene

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Editorial:
KS OmniScriptum Publishing
Año de edición:
2024
Materia
Medicina: cuestiones generales
ISBN:
9786208145354
77,96 €
IVA incluido
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Agenesis of the corpus callosum (ACC) is the most common cerebral malformation, with a prevalence ranging from 1.4 to 2.5 per 10,000 live births. It may be complete or partial, isolated or associated with other malformations (cerebral or extra-cerebral malformations). Its clinical expression varies from asymptomatic forms, where CCA is discovered by chance, to syndromic forms with severe intellectual disability.This is a descriptive, retrospective study of patients with syndromic ACC, collected over a 16-year period in the Congenital and Hereditary Diseases Department at Charles Nicolle Hospital, Tunis, Tunisia.We collected 47 cases of ACC referred mainly for developmental delay. CCA was complete in 64% of cases and partial in 36%. Callous agenesis was associated with other encephalic anomaly(ies) in 57% of cases. The clinical study made it possible to orientate the diagnosis in around 40% of patients, enabling appropriate genetic counselling to be given to couples, both in terms of prognosis and risk of recurrence.

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Otros libros del autor

  • Syndromische Corpus-callosum-Agenesie
    Imene Boujelbene
    Die Corpus-callosum-Agenesie (CCA) ist mit einer Prävalenz von 1,4 bis 2,5 pro 10.000 Lebendgeburten die häufigste zerebrale Fehlbildung. Sie kann vollständig oder teilweise, isoliert oder in Verbindung mit anderen Fehlbildungszeichen (zerebrale oder extrazerebrale Fehlbildungen) auftreten. Die klinische Ausprägung ist unterschiedlich und reicht von asymptomatischen Formen, bei...
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  • Agenesia sindromica del corpo calloso
    Imene Boujelbene
    L’agenesia del corpo calloso (ACC) è la malformazione cerebrale più comune, con una prevalenza che varia da 1,4 a 2,5 su 10.000 nati vivi. Può essere completa o parziale, isolata o associata ad altre malformazioni (cerebrali o extra-cerebrali). La sua espressione clinica varia da forme asintomatiche in cui l’ACC viene scoperto per caso, a forme sindromiche con grave disabilità ...
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  • Agenesia sindrómica do corpo caloso
    Imene Boujelbene
    A agenesia do corpo caloso (ACC) é a malformação cerebral mais comum, com uma prevalência que varia entre 1,4 e 2,5 por cada 10.000 nados vivos. Pode ser completa ou parcial, isolada ou associada a outras malformações (malformações cerebrais ou extra-cerebrais). A sua expressão clínica varia desde formas assintomáticas, em que a CCA é descoberta por acaso, até formas sindrómica...
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  • L’agénésie du corps calleux syndromique
    Imene Boujelbene
    L’agénésie du corps calleux (ACC) est la plus fréquente des malformations cérébrales avec une prévalence allant de 1,4 à 2,5 pour 10000 naissances vivantes. Elle peut être complète ou partielle, isolée ou associée à d’autres signes malformatifs (malformations cérébrales ou extra cérébrales). Son expression clinique est variable allant des formes asymptomatiques où l’ACC est de ...
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