Abstract |
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.
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Authors | M 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 |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 76
Issue 3
Pg. 202-12
(Mar 19 1998)
ISSN: 0148-7299 [Print] United States |
PMID | 9508238
(Publication Type: Case Reports, Journal Article, Review)
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Chemical References |
- Fibrillins
- Microfilament Proteins
|
Topics |
- Abnormalities, Multiple
(metabolism, pathology)
- Adolescent
- Adult
- Child
- Craniosynostoses
(metabolism, pathology)
- Female
- Fibrillins
- Funnel Chest
(pathology)
- Hearing Loss, Sensorineural
(pathology)
- Humans
- Male
- Marfan Syndrome
(metabolism, pathology)
- Microfilament Proteins
(metabolism)
- Syndrome
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