Shprintzen-Goldberg syndrome: a clinical analysis

Am J Med Genet. 1998 Mar 19;76(3):202-12.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / metabolism
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Adult
  • Child
  • Craniosynostoses / metabolism
  • Craniosynostoses / pathology*
  • Female
  • Fibrillins
  • Funnel Chest / pathology
  • Hearing Loss, Sensorineural / pathology
  • Humans
  • Male
  • Marfan Syndrome / metabolism
  • Marfan Syndrome / pathology*
  • Microfilament Proteins / metabolism
  • Syndrome


  • Fibrillins
  • Microfilament Proteins