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Anglický jazyk
Syndromic agenesis of the corpus callosum
Autor: Imene Boujelbene
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).... Viac o knihe
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O knihe
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.
- Vydavateľstvo: Our Knowledge Publishing
- Rok vydania: 2024
- Formát: Paperback
- Rozmer: 220 x 150 mm
- Jazyk: Anglický jazyk
- ISBN: 9786208145354
