Shprintzen-Goldberg syndrome: a clinical analysis.

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.
AuthorsM T Greally, J C Carey, D M Milewicz, L Hudgins, R B Goldberg, R J Shprintzen, A J Cousineau, W L Smith Jr, G F Judisch, J W Hanson
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 76 Issue 3 Pg. 202-12 (Mar 19 1998) ISSN: 0148-7299 [Print] UNITED STATES
PMID9508238 (Publication Type: Case Reports, Journal Article, Review)
Chemical References
  • Microfilament Proteins
  • fibrillin
  • Abnormalities, Multiple (metabolism, pathology)
  • Adolescent
  • Adult
  • Child
  • Craniosynostoses (metabolism, pathology)
  • Female
  • Funnel Chest (pathology)
  • Hearing Loss, Sensorineural (pathology)
  • Humans
  • Male
  • Marfan Syndrome (metabolism, pathology)
  • Microfilament Proteins (metabolism)
  • Syndrome

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