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.