https://scholars.lib.ntu.edu.tw/handle/123456789/603864
標題: | Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review | 作者: | Tsai, Meng-Ju Melody NI-CHUNG LEE YIN-HSIU CHIEN WUH-LIANG HWU YI-CHING TUNG |
關鍵字: | Intellectual disability; Jansen–de Vries syndrome (JDVS); PPM1D; Short stature | 公開日期: | 四月-2022 | 卷: | 121 | 期: | 4 | 來源出版物: | Journal of the Formosan Medical Association = Taiwan yi zhi | 摘要: | Short stature and intellectual disability are two of the major components of many dysmorphic syndromes. Jansen-de Vries syndrome (JDVS) is a rare syndromic disorder that was discovered recently using next-generation sequencing. It is characterized by hypotonia, developmental delay, a dysmorphic face, short stature, and high pain threshold and is caused by the variants of the protein phosphatase magnesium-dependent 1D (PPM1D) gene. Here, we report the first two cases of PPM1D mutations in Taiwan; both had de novo variants in exon 6. Both presented with short stature, developmental delay, and dysmorphic faces. In addition to the characteristics listed above, syndactyly was noted in one. Genetic studies should be considered when approaching a patient with growth retardation, intellectual disability, and other major or minor dysmorphisms. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/603864 | ISSN: | 0929-6646 | DOI: | 10.1016/j.jfma.2021.12.022 |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。