Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report
Smith-Magenis syndrome (SMS) and Dandy-Walker malformation (DWM) are uncommon genetic conditions with nonspecific clinical features, which makes reaching a definitive diagnosis challenging. We describe here, a 2-year-old girl who was diagnosed with SMS at the age of 12 months due to delayed growth a...
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2025-01-01
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| Series: | Journal of International Medical Research |
| Online Access: | https://doi.org/10.1177/03000605241310844 |
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| _version_ | 1841545931051237376 |
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| author | Wen-Tong Zhu Lu-Xia Jiang Yu-Mei Ma Xiang-Yang Wu Qi-Ming Zhao |
| author_facet | Wen-Tong Zhu Lu-Xia Jiang Yu-Mei Ma Xiang-Yang Wu Qi-Ming Zhao |
| author_sort | Wen-Tong Zhu |
| collection | DOAJ |
| description | Smith-Magenis syndrome (SMS) and Dandy-Walker malformation (DWM) are uncommon genetic conditions with nonspecific clinical features, which makes reaching a definitive diagnosis challenging. We describe here, a 2-year-old girl who was diagnosed with SMS at the age of 12 months due to delayed growth and development. The child presented to hospital with acute heart failure and respiratory failure. During the treatment process, her response was limited, and her recovery was slow. A subsequent head computed tomography (CT) scan showed abnormalities consistent with the diagnosis of comorbid DWM. We believe that this is the first reported case of a patient with SMS combined with DWM. By reporting this case, we aim to offer clinicians valuable insights into these rare diseases and provide a framework for future clinical diagnosis and treatment. |
| format | Article |
| id | doaj-art-b36fff8813ec4237b6f24d638d5c4ca1 |
| institution | Kabale University |
| issn | 1473-2300 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Journal of International Medical Research |
| spelling | doaj-art-b36fff8813ec4237b6f24d638d5c4ca12025-01-11T07:03:41ZengSAGE PublishingJournal of International Medical Research1473-23002025-01-015310.1177/03000605241310844Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case reportWen-Tong ZhuLu-Xia JiangYu-Mei MaXiang-Yang WuQi-Ming ZhaoSmith-Magenis syndrome (SMS) and Dandy-Walker malformation (DWM) are uncommon genetic conditions with nonspecific clinical features, which makes reaching a definitive diagnosis challenging. We describe here, a 2-year-old girl who was diagnosed with SMS at the age of 12 months due to delayed growth and development. The child presented to hospital with acute heart failure and respiratory failure. During the treatment process, her response was limited, and her recovery was slow. A subsequent head computed tomography (CT) scan showed abnormalities consistent with the diagnosis of comorbid DWM. We believe that this is the first reported case of a patient with SMS combined with DWM. By reporting this case, we aim to offer clinicians valuable insights into these rare diseases and provide a framework for future clinical diagnosis and treatment.https://doi.org/10.1177/03000605241310844 |
| spellingShingle | Wen-Tong Zhu Lu-Xia Jiang Yu-Mei Ma Xiang-Yang Wu Qi-Ming Zhao Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report Journal of International Medical Research |
| title | Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report |
| title_full | Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report |
| title_fullStr | Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report |
| title_full_unstemmed | Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report |
| title_short | Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report |
| title_sort | smith magenis syndrome with dandy walker malformation in a 2 year old girl a case report |
| url | https://doi.org/10.1177/03000605241310844 |
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