| Literature DB >> 1887855 |
S M Shebib1, M H Reed, E P Shuckett, H G Cross, J B Perry, A E Chudley.
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.Entities:
Mesh:
Year: 1991 PMID: 1887855 DOI: 10.1002/ajmg.1320400118
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299