Enamel hypoplasia, bilateral cataracts, and aqueductal stenosis: A new syndrome?
Article first published online: 7 JUN 2005
Copyright © 1995 Wiley-Liss, Inc., A Wiley Company
American Journal of Medical Genetics
Volume 58, Issue 4, pages 371–373, 25 September 1995
How to Cite
Seow, W. K., Needleman, H. L., Smith, L. E. H., Holtzman, D. and Najjar, S. (1995), Enamel hypoplasia, bilateral cataracts, and aqueductal stenosis: A new syndrome?. Am. J. Med. Genet., 58: 371–373. doi: 10.1002/ajmg.1320580414
- Issue published online: 7 JUN 2005
- Article first published online: 7 JUN 2005
- Manuscript Revised: 25 APR 1995
- Manuscript Received: 30 JAN 1995
- enamel hypoplasia;
- amelogenesis imperfecta;
- idiopathic cataracts;
- aqueductal stenosis
We report on a 12-year-old girl who presented with generalized enamel hypoplasia, cataracts, and enlargement of the cerebral ventricles secondary to aqueductal stenosis. Previously described syndromes of enamel defects with or without cataracts were excluded on the basis of clinical criteria and appearance of the dentition. Metabolic conditions which could have caused cataracts were excluded clinically and by biochemical tests. The combination of signs in this patient may represent a new syndrome. © 1995 Wiley-Liss, Inc.