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.
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 .
Which disease is included as an additional feature in the Goldberg-Shprintzen syndrome?
Which disease is included as an additional feature in the Goldberg - Shprintzen syndrome ?
Craniosynostosis
Craniosynostosis