Academic Journal
Neuroradiologic Findings in Sotos Syndrome
| العنوان: | Neuroradiologic Findings in Sotos Syndrome |
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| المؤلفون: | Horikoshi, Hiroko, Kato, Zenichiro, Masuno, Mitsuo, Asano, Takahiko, Nagase, Tomoko, Yamagishi, Yuka, Kozawa, Ryo, Arai, Takahiro, Aoki, Minako, Teramoto, Takahide, Omoya, Kentaro, Matsumoto, Naomichi, Kurotaki, Naohiro, Shimokawa, Osamu, Kurosawa, Kenji, Kondo, Naomi |
| المصدر: | Journal of Child Neurology ; volume 21, issue 7, page 614-618 ; ISSN 0883-0738 1708-8283 |
| بيانات النشر: | SAGE Publications |
| سنة النشر: | 2006 |
| الوصف: | Sotos syndrome is a well-known anomaly syndrome characterized by overgrowth, characteristic facial gestalt, and developmental delay, and haploinsufficiency of the NSD1 gene has been revealed as one of the major genetic causes. However, there have been only a few reports on neuroradiologic findings by computed tomography (CT) or magnetic resonance imaging (MRI), and functional examination of the brain has not been reported. We examined three cases with typical Sotos syndrome, which also were confirmed by genetic analysis with a specific probe for the NSD1 gene. The results of MRI showed the characteristic features that have been reported previously. The findings obtained by using single-photon emission computed tomography and magnetic resonance spectroscopy suggested an association between mental delay and behavioral tendency in Sotos syndrome and immaturity in frontal brain function. (J Child Neurol 2006;21:614—618; DOI 10.2310/7010.2006.00145). |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1177/08830738060210071001 |
| الاتاحة: | https://doi.org/10.1177/08830738060210071001 https://journals.sagepub.com/doi/pdf/10.1177/08830738060210071001 |
| Rights: | https://journals.sagepub.com/page/policies/text-and-data-mining-license |
| رقم الانضمام: | edsbas.E8426443 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1177/08830738060210071001 |
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