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- Publisher
- Wiley
- Copyright
- Copyright © 1991 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/ajmg.1320400118
- pmid
- 1887855
- Publisher site
- See Article on Publisher Site
Abstract
We report on a child with a unique constellation of congenital anomalies suggesting a new syndrome. These consist of developmental delay; craniofacial abnormalities, including bilateral cataracts, ptosis, median nasal groove, malformed ears with associated neurosensory hearing loss; dental anomalies consisting of anomalous cusp morphology with unusual pointed extensions and delayed tooth eruption; short stature with marked delay in epiphyseal ossification; coronal clefts involving vertebrae T11‐S2; and dislocated hips. A literature search and use of a computer‐assisted syndrome‐identification program failed to uncover an identical case.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 1991
Keywords: ; ; ; ; ;