[Williams-Beuren syndrome: a retrospective study of a series of 11 cases at the Mohammed VI University Hospital in Marrakech].
| Autor: | Bouzid FZ; Service de Génétique, Centre de Recherche Clinique, Centre Hospitalier Universitaire Mohammed VI, Marrakech, Maroc.; Faculté de Médecine et de Pharmacie de Marrakech, Université Cadi Ayyad, Marrakech, Maroc., Hammou HA; Service de Génétique, Centre de Recherche Clinique, Centre Hospitalier Universitaire Mohammed VI, Marrakech, Maroc., Akallakh H; Service de Génétique, Centre de Recherche Clinique, Centre Hospitalier Universitaire Mohammed VI, Marrakech, Maroc., Dafir K; Service de Génétique, Centre de Recherche Clinique, Centre Hospitalier Universitaire Mohammed VI, Marrakech, Maroc.; Faculté de Médecine et de Pharmacie de Marrakech, Université Cadi Ayyad, Marrakech, Maroc., Tajir M; Service de Génétique, Centre de Recherche Clinique, Centre Hospitalier Universitaire Mohammed VI, Marrakech, Maroc.; Service de Génétique Médicale, Centre Hospitalier Universitaire Mohammed VI, Oujda, Maroc., Aboussair N; Service de Génétique, Centre de Recherche Clinique, Centre Hospitalier Universitaire Mohammed VI, Marrakech, Maroc.; Faculté de Médecine et de Pharmacie de Marrakech, Université Cadi Ayyad, Marrakech, Maroc. |
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| Jazyk: | francouzština |
| Zdroj: | The Pan African medical journal [Pan Afr Med J] 2023 Dec 01; Vol. 46, pp. 94. Date of Electronic Publication: 2023 Dec 01 (Print Publication: 2023). |
| DOI: | 10.11604/pamj.2023.46.94.29604 |
| Abstrakt: | Williams-Beuren syndrome is a rare genetic disease (1/20 000) characterized by a microdeletion at 7q11.23 encompassing about 28 genes, including the elastin gene, ELN. It is a sporadic disease in the majority of cases. Easily identifiable in childhood, this developmental disorder associates suggestive face dysmorphism, cardiac defect, psychomotor retardation and specific behavioural and cognitive profile. We conducted a retrospective study of 11 patients with Williams-Beuren syndrome whose data were collected in the Genetics Department of the Mohammed VI University Hospital of Marrakech. The average age of patients was 6.05 years (SD=6.56; interquartile range=5), with a female predominance (64%; 7/11 patients). Almost all patients were mentally retarded and the diagnosis was confirmed in 100% (11) of patients using fluorescence in situ hybridisation (FISH). Competing Interests: Les auteurs ne déclarent aucun conflit d'intérêts. (Copyright: Fatima Zahrae Bouzid et al.) |
| Databáze: | MEDLINE |
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