魯賓斯坦-泰必氏綜合症(;縮寫作RTS),亦作魯賓斯坦綜合症、鲁-塔二氏综合症,俗稱大拇指症,是一種從人類孟德爾遺傳學(OMIM)證實的多重先天異常綜合症(MCA)。病發率約為百萬分之八到十。
有此綜合症的病人除了身材矮小、有中度到重度的學習困難、獨特的面部特徵(例如: 頭部過小、眼縫向下、鷹勾鼻、臉部常給予他人一種瞇眼微笑的感覺,耳朵也可能有位置、形狀的異常等。)及寬大的拇指與拇趾外,還會有較大機率長出良性及惡性的腫瘤、淋巴瘤或白血病病變。
參考資料
外部連結
- [http://www.rubinstein-Taybi.it/ RTS - Rubinstein-Taybi Syndrome] - Associazione italiana RTS
- [https://web.archive.org/web/20090825201654/http://www.rubinstein-taybi.org/ RTS - Rubinstein-Taybi Syndrome] - A site devoted to the families and people diagnosed with Rubinstein-Taybi Syndrome.
- [http://www.rubinsteintaybi.com.ar/ RTS - Rubinstein-Taybi Syndrome Argentina] - RTS Argentina - www.rubinsteintaybi.com.ar - Grupo de Apoyo - Historias.-
- [http://www.rtsyndroom.nl/ Dutch RTS-site] - RTS the Netherlands
- [https://web.archive.org/web/20050501164027/http://www.rubinstein-taybi.org/bluebook/hisorical.html History of RTS] by J.H. Rubinstein.
- [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rsts GeneReview/UW/NIH entry on Rubinstein-Taybi syndrome]
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