Shprintzen-Goldberg syndrome is one of a group of disorders characterized by 
craniosynostosis and marfanoid habitus. Eleven cases were reported previously. 
We present 4 new patients and review one of the patients of the original report 
of Shprintzen and Goldberg [1982: J Craniofac Genet Dev Biol 2:65-74], 15 years 
later. The clinical and radiologic findings on our patients are compared with 
those of the previously reported patients and also with those of Furlong et al. 
[1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 
2: 220-224], who share many of the characteristics of Shprintzen-Goldberg 
syndrome. Some of the clinical data are helpful in determining if the patients 
of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin 
[1993: Clin Dysmorphol 2: 220-224] have a separate syndrome or represent a 
variant of Shprintzen-Goldberg syndrome. However, radiologic investigations 
appear to be more specific, since an abnormality of the first and second 
cervical vertebrae, hydrocephalus, dilatation of the lateral ventricles, and a 
Chiari-I malformation of the brain were found only in the patients with 
Shprintzen-Goldberg syndrome. The apparently diagnostic findings of the 15 
patients with this syndrome may be helpful in differentiating between 
Shprintzen-Goldberg syndrome and other syndromes with craniosynostosis and 
marfanoid habitus.