Shprintzen-Goldberg syndrome: a clinical analysis.
Am J Med Genet
; 76(3): 202-12, 1998 Mar 19.
Article
in En
| MEDLINE
| ID: mdl-9508238
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 265-74], 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 26599-604] 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 26599-604] 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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Craniosynostoses
/
Marfan Syndrome
Limits:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
En
Journal:
Am J Med Genet
Year:
1998
Document type:
Article
Affiliation country: