Cardiofaciocutaneus syndrome: literature review and case report
The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome pre...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2019-01-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/304 |
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| _version_ | 1849401086524260352 |
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| author | V. V. Umnov N. V. Nikitina A. M. Khodorovskaya O. V. Barlova |
| author_facet | V. V. Umnov N. V. Nikitina A. M. Khodorovskaya O. V. Barlova |
| author_sort | V. V. Umnov |
| collection | DOAJ |
| description | The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome. |
| format | Article |
| id | doaj-art-bc71279ecd5f49eb9cde3ce0b292e930 |
| institution | Kabale University |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2019-01-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-bc71279ecd5f49eb9cde3ce0b292e9302025-08-20T03:37:50ZrusABV-pressНервно-мышечные болезни2222-87212413-04432019-01-0184495310.17650/2222-8721-2018-8-4-49-53225Cardiofaciocutaneus syndrome: literature review and case reportV. V. Umnov0N. V. Nikitina1A. M. Khodorovskaya2O. V. Barlova3The Turner Scientific and Research Institute for Children’s Orthopedics of RussiaThe Turner Scientific and Research Institute for Children’s Orthopedics of RussiaNorth Western State Medical University named after I.I. MechnikovThe Turner Scientific and Research Institute for Children’s Orthopedics of RussiaThe cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.https://nmb.abvpress.ru/jour/article/view/304cardiofaciocutaneous syndromespasticityneglected orthopedic pathology |
| spellingShingle | V. V. Umnov N. V. Nikitina A. M. Khodorovskaya O. V. Barlova Cardiofaciocutaneus syndrome: literature review and case report Нервно-мышечные болезни cardiofaciocutaneous syndrome spasticity neglected orthopedic pathology |
| title | Cardiofaciocutaneus syndrome: literature review and case report |
| title_full | Cardiofaciocutaneus syndrome: literature review and case report |
| title_fullStr | Cardiofaciocutaneus syndrome: literature review and case report |
| title_full_unstemmed | Cardiofaciocutaneus syndrome: literature review and case report |
| title_short | Cardiofaciocutaneus syndrome: literature review and case report |
| title_sort | cardiofaciocutaneus syndrome literature review and case report |
| topic | cardiofaciocutaneous syndrome spasticity neglected orthopedic pathology |
| url | https://nmb.abvpress.ru/jour/article/view/304 |
| work_keys_str_mv | AT vvumnov cardiofaciocutaneussyndromeliteraturereviewandcasereport AT nvnikitina cardiofaciocutaneussyndromeliteraturereviewandcasereport AT amkhodorovskaya cardiofaciocutaneussyndromeliteraturereviewandcasereport AT ovbarlova cardiofaciocutaneussyndromeliteraturereviewandcasereport |