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Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

Authors :
Bohring A
Silengo M
Lerone M
Superneau DW
Spaich C
Braddock SR
Poss A
Opitz JM
Source :
American journal of medical genetics [Am J Med Genet] 1999 Aug 27; Vol. 85 (5), pp. 438-46.
Publication Year :
1999

Abstract

We report on four unrelated cases of an Opitz trigonocephaly (C)-like syndrome with a highly characteristic combination of facial anomalies including prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, flexion deformities of the upper limbs and multiple other anomalies. We also review two very similar published cases formerly considered to have the C syndrome. Although there is overlap, a clinical distinction from the Opitz trigonocephaly and other syndromes seems possible, and thus a specific causal entity may be postulated.<br /> (Copyright 1999 Wiley-Liss, Inc.)

Details

Language :
English
ISSN :
0148-7299
Volume :
85
Issue :
5
Database :
MEDLINE
Journal :
American journal of medical genetics
Publication Type :
Academic Journal
Accession number :
10405439
Full Text :
https://doi.org/10.1002/(sici)1096-8628(19990827)85:5<438::aid-ajmg2>3.0.co;2-a