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 2:6
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus
โ Scribed by Hassed, Susan; Shewmake, Kris; Teo, Charles; Curtis, Mary; Cunniff, Christopher
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 25 KB
- Volume
- 70
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19970627)70:4<450::aid-ajmg22>3.0.co;2-f
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โฆ Synopsis
These manifestations should be included in the diagnosis and anticipatory guidance of children with SGS. Am.
๐ SIMILAR VOLUMES
Inheritance of the syndrome is suggested to be autosomal recessive. Electroencephalogram (EEG) was abnormal in four of five individuals studied. The brain computed tomography (CT) was abnormal in 9 of 10 individuals and the abnormalities included a small and thick vault, irregular margins of the ven
The Axenfeld-Rieger anomaly is a defect of the anterior chamber of the eye affecting the angle structures. If accompanied by hypodontia, midface hypoplasia, and umbilical anomalies, the designation ''Rieger syndrome'' is appropriate. Both conditions are autosomal dominant traits. The Axenfeld-Rieger
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