Patient with CHARGE syndrome
A two-years-old boy presenting multiple anomaly syndrome (congenital heart disease, Tetralogy of Fallot, bilateral ear anomalies, and micropenis) was consulted in the Pneumo-allergology unit of Rabat children hospital in Morocco. It was ruled out the possibility of multiple deformities caused by gen...
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| Format: | Article |
| Language: | English |
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The Pan African Medical Journal
2018-09-01
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| Series: | The Pan African Medical Journal |
| Subjects: | |
| Online Access: |
https://www.panafrican-med-journal.com/content/article/31/51/pdf/51.pdf
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| _version_ | 1819001509870829568 |
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| author | Abdelhakim El Yajouri Chafiq Mahraoui |
| author_facet | Abdelhakim El Yajouri Chafiq Mahraoui |
| author_sort | Abdelhakim El Yajouri |
| collection | DOAJ |
| description | A two-years-old boy presenting multiple anomaly syndrome (congenital heart disease, Tetralogy of Fallot, bilateral ear anomalies, and micropenis) was consulted in the Pneumo-allergology unit of Rabat children hospital in Morocco. It was ruled out the possibility of multiple deformities caused by genomic imbalances. The patient was then clinically considered to have CHARGE syndrome, an autosomal dominant multi-system disorder involving defects in multiple organs. |
| first_indexed | 2024-12-20T22:50:21Z |
| format | Article |
| id | doaj.art-035f17b897b94b7382372063202c7e9a |
| institution | Directory Open Access Journal |
| issn | 1937-8688 1937-8688 |
| language | English |
| last_indexed | 2024-12-20T22:50:21Z |
| publishDate | 2018-09-01 |
| publisher | The Pan African Medical Journal |
| record_format | Article |
| series | The Pan African Medical Journal |
| spelling | doaj.art-035f17b897b94b7382372063202c7e9a2022-12-21T19:24:15ZengThe Pan African Medical JournalThe Pan African Medical Journal1937-86881937-86882018-09-01315110.11604/pamj.2018.31.51.70297029Patient with CHARGE syndromeAbdelhakim El Yajouri0Chafiq Mahraoui1 Pneumo-allergology unit of Rabat Children Hospital, Faculty of Medicine, Mohammed V University Rabat, Morocco Pneumo-allergology unit of Rabat Children Hospital, Faculty of Medicine, Mohammed V University Rabat, Morocco A two-years-old boy presenting multiple anomaly syndrome (congenital heart disease, Tetralogy of Fallot, bilateral ear anomalies, and micropenis) was consulted in the Pneumo-allergology unit of Rabat children hospital in Morocco. It was ruled out the possibility of multiple deformities caused by genomic imbalances. The patient was then clinically considered to have CHARGE syndrome, an autosomal dominant multi-system disorder involving defects in multiple organs. https://www.panafrican-med-journal.com/content/article/31/51/pdf/51.pdf charge syndromehealth care consumptionlong-term conditions |
| spellingShingle | Abdelhakim El Yajouri Chafiq Mahraoui Patient with CHARGE syndrome The Pan African Medical Journal charge syndrome health care consumption long-term conditions |
| title | Patient with CHARGE syndrome |
| title_full | Patient with CHARGE syndrome |
| title_fullStr | Patient with CHARGE syndrome |
| title_full_unstemmed | Patient with CHARGE syndrome |
| title_short | Patient with CHARGE syndrome |
| title_sort | patient with charge syndrome |
| topic | charge syndrome health care consumption long-term conditions |
| url |
https://www.panafrican-med-journal.com/content/article/31/51/pdf/51.pdf
|
| work_keys_str_mv | AT abdelhakimelyajouri patientwithchargesyndrome AT chafiqmahraoui patientwithchargesyndrome |