Mutations of the fibrillin-1 (FBN1) gene on chromosome 15q have been described in patients with classical Marfan syndrome, neonatal MFS, aortic aneurysms, ectopia lentis, Marfanoid skeletal features, familial arachnodactyly, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome, and severe progressive kyphoscoliosis [2-6]. The gene discussed is FBN1; the disease is Goldberg-Shprintzen syndrome.