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New Syndrome
A new syndrome with distinct facial and auricular malformations and dominant inheritance
Article first published online: 5 JUN 2005
DOI: 10.1002/ajmg.1320320209
Copyright © 1989 Wiley-Liss, Inc., A Wiley Company
1552-4833/asset/cover.gif?v=1&s=9818ec8c89d0772bf0e752b15694c460afb83f9f "American Journal of Medical Genetics")
Additional Information
How to Cite
Simosa, V., Penchaszadeh, V. B., Bustos, T., Opitz, J. M. and Reynolds, J. F. (1989), A new syndrome with distinct facial and auricular malformations and dominant inheritance. Am. J. Med. Genet., 32: 184–186. doi: 10.1002/ajmg.1320320209
Publication History
- Issue published online: 5 JUN 2005
- Article first published online: 5 JUN 2005
- Manuscript Revised: 30 JUL 1988
- Manuscript Received: 16 APR 1988
- Abstract
- References
- Cited By
Keywords:
- Freeman-Sheldon syndrome;
- cranio-carpotarsal dystrophy;
- Schwartz-Jampel syndrome;
- ear malformation;
- blepharophimosis;
- microstomia;
- chin dimples;
- autosomal dominant;
- X-linked dominant
Abstract
We report on a mother and son with high forehead; elongated and flattened face; arched, sparse eyebrows; short palpebral fissures; telecanthus; long nose and hypoplastic nostrils; long philtrum; microstomia; high, narrow palate; nasal speech; chin dimples; and a highly unusual bilateral auricular malformation. Intelligence and hearing are normal, and there is no “whistling” face or deviation of fingers. Although resembling in some ways the Freeman-Sheldon syndrome, this phenotype most likely represents a new malformation syndrome, either autosomal dominant or X-linked dominant.