Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report
Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner. The diagnosis of TCS relies on clinical and radiographic...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Sciendo
2024-03-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2023-0018 |
| _version_ | 1827308641360805888 |
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| author | Lamzouri A EL Rherbi A Ratbi I Laarabi FZ Chahboune R Elalaoui SC Hamdaoui H Bencheikh RS Sefiani A |
| author_facet | Lamzouri A EL Rherbi A Ratbi I Laarabi FZ Chahboune R Elalaoui SC Hamdaoui H Bencheikh RS Sefiani A |
| author_sort | Lamzouri A |
| collection | DOAJ |
| description | Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner. The diagnosis of TCS relies on clinical and radiographic findings. The four genes involved in TCS are TCOF1, POLR1D, POLR1C, and POLR1B. |
| first_indexed | 2024-04-24T19:13:37Z |
| format | Article |
| id | doaj.art-eea790235a3d499089596940d6521207 |
| institution | Directory Open Access Journal |
| issn | 2199-5761 |
| language | English |
| last_indexed | 2024-04-24T19:13:37Z |
| publishDate | 2024-03-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-eea790235a3d499089596940d65212072024-03-26T09:02:28ZengSciendoBalkan Journal of Medical Genetics2199-57612024-03-01262697210.2478/bjmg-2023-0018Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case ReportLamzouri A0EL Rherbi A1Ratbi I2Laarabi FZ3Chahboune R4Elalaoui SC5Hamdaoui H6Bencheikh RS7Sefiani A8Life and Health Sciences Laboratory, Faculty of Medicine and Pharmacy of Tangier, Abdelmalek Essaâdi University, MoroccoPoison control and pharmacovigilance center, Rabat, MoroccoResearch Center in Genomics of Human Pathologies (GENOPATH), Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, MoroccoLife and Health Sciences Laboratory, Faculty of Medicine and Pharmacy of Tangier, Abdelmalek Essaâdi University, MoroccoLife and Health Sciences Laboratory, Faculty of Medicine and Pharmacy of Tangier, Abdelmalek Essaâdi University, MoroccoResearch Center in Genomics of Human Pathologies (GENOPATH), Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, MoroccoDepartment of Medical Genetics and Oncogenetics, Mohammed VI University Hospital, Tangier, MoroccoPoison control and pharmacovigilance center, Rabat, MoroccoResearch Center in Genomics of Human Pathologies (GENOPATH), Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Rabat, MoroccoTreacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner. The diagnosis of TCS relies on clinical and radiographic findings. The four genes involved in TCS are TCOF1, POLR1D, POLR1C, and POLR1B.https://doi.org/10.2478/bjmg-2023-0018genetic consultationpharmacovigilancetcof1 geneteratogenicitytreacher collins syndrome |
| spellingShingle | Lamzouri A EL Rherbi A Ratbi I Laarabi FZ Chahboune R Elalaoui SC Hamdaoui H Bencheikh RS Sefiani A Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report Balkan Journal of Medical Genetics genetic consultation pharmacovigilance tcof1 gene teratogenicity treacher collins syndrome |
| title | Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report |
| title_full | Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report |
| title_fullStr | Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report |
| title_full_unstemmed | Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report |
| title_short | Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report |
| title_sort | misdiagnosis of tracher collins syndrome initially attributed to drug teratogenicity a moroccan case report |
| topic | genetic consultation pharmacovigilance tcof1 gene teratogenicity treacher collins syndrome |
| url | https://doi.org/10.2478/bjmg-2023-0018 |
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