Enamel hypoplasia, bilateral cataracts, and aqueductal stenosis: A new syndrome?

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?. American Journal of Medical Genetics, 58 4: 371-373. doi:10.1002/ajmg.1320580414


Author Seow, W. K.
Needleman, H. L.
Smith, L. E. H.
Holtzman, D.
Najjar, S.
Title Enamel hypoplasia, bilateral cataracts, and aqueductal stenosis: A new syndrome?
Journal name American Journal of Medical Genetics   Check publisher's open access policy
ISSN 0148-7299
Publication date 1995-09-01
Year available 1995
Sub-type Other
DOI 10.1002/ajmg.1320580414
Open Access Status Not yet assessed
Volume 58
Issue 4
Start page 371
End page 373
Total pages 3
Place of publication NEW YORK
Publisher WILEY-LISS
Language eng
Abstract 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. (C) 1995 Wiley Liss, Inc.
Keyword ENAMEL HYPOPLASIA
AMELOGENESIS IMPERFECTA
IDIOPATHIC CATARACTS
AQUEDUCTAL STENOSIS
AMELOGENESIS IMPERFECTA
MANAGEMENT
TRAIT
Q-Index Code CX
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Other
Collection: School of Dentistry Publications
 
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Created: Thu, 18 Nov 2010, 21:03:30 EST