How to Cite this Article: Stevens CA. 2010. Steinfeld syndrome: Further delineation. Am J Med Genet Part A 152A:1789–1792.
Steinfeld syndrome: Further delineation†
Version of Record online: 25 JUN 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 7, pages 1789–1792, July 2010
How to Cite
Stevens, C. A. (2010), Steinfeld syndrome: Further delineation. Am. J. Med. Genet., 152A: 1789–1792. doi: 10.1002/ajmg.a.33440
- Issue online: 25 JUN 2010
- Version of Record online: 25 JUN 2010
- Manuscript Accepted: 18 MAR 2010
- Manuscript Received: 5 FEB 2010
- Steinfeld syndrome;
- limb reduction defects;
Steinfeld syndrome, which was first reported in 1982, is characterized by holoprosencephaly, phocomelia, clefting, congenital heart defects, and other anomalies. There have been two additional reports since then. This report describes a fetus with clinical features consistent with Steinfeld syndrome and it is the first patient with this condition to have extensive genetic evaluation. This appears to be an autosomal dominant syndrome with widely variable expression. The clinical features of this syndrome are reviewed. © 2010 Wiley-Liss, Inc.