Shprintzen-Goldberg syndrome

Definition:

Shprintzen-Goldberg syndrome (SGS) is a group of disorders characterized by craniosynostosis, neurologic abnormalities, and Marfanoid findings. It is a condition that involves skeletal changes and cardiovascular anomalies.

References:

[1]. Alexander J Doyle, et al. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet. 2012 Nov;44(11):1249-54. [Content Brief]

[2]. Kenjiro Kosaki, et al. Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A. 2006 Jan 1;140(1):104-8; author reply 109-10. [Content Brief]

[3]. S Sood, et al. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nat Genet. 1996 Feb;12(2):209-11. [Content Brief]

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