van Steensel Maurice A M, van Geel Michel, Parren Lizelotte J M T, Schrander-Stumpel Constance T R M, Marcus-Soekarman Dominique
Department of Dermatology, University of Maastricht, Maastricht, The Netherlands.
Exp Dermatol. 2008 Apr;17(4):362-5. doi: 10.1111/j.1600-0625.2007.00648.x. Epub 2007 Nov 2.
Shprintzen-Goldberg syndrome (SGS) is a rare disorder characterized by a Marfan-like habitus, mental retardation and craniosynostosis. Cardiac abnormalities, such as aortic root dilation have also been noted as well as several skeletal abnormalities. Its nosological status is unclear as it is hard to delineate SGS from similar disorders, such as Furlong, Marfan type II, Camurati-Engelmann and Loeys-Dietz syndromes. It has been suggested that these conditions represent a phenotypical spectrum associated with aberrant TGF-beta signalling. In support of this notion, we found a novel TGFBR2 missense mutation in a patient with features of SGS.
施普林曾-戈德堡综合征（SGS）是一种罕见疾病，其特征为类马凡氏体型、智力发育迟缓及颅缝早闭。还发现有心脏异常，如主动脉根部扩张以及多种骨骼异常。其疾病分类地位尚不清楚，因为很难将SGS与类似疾病区分开来，如弗隆综合征、II型马凡综合征、卡穆拉蒂-恩格尔曼综合征和洛伊ys-迪茨综合征。有人提出，这些病症代表了与异常转化生长因子-β信号传导相关的表型谱。为支持这一观点，我们在一名具有SGS特征的患者中发现了一种新的转化生长因子β受体2（TGFBR2）错义突变。
