How to Cite this Article: Caglayan AO, Stevens SJC, Albrechts JCM, Dundar M, Engelen J. 2012. A new syndrome of microtia with unilateral renal agenesis and short stature. Am J Med Genet Part A. 158A:1837–1840.
A new syndrome of microtia with unilateral renal agenesis and short stature†
Article first published online: 18 JUN 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 8, pages 1837–1840, August 2012
How to Cite
Caglayan, A. O., Stevens, S. J.C., Albrechts, J. C.M., Dundar, M. and Engelen, J. (2012), A new syndrome of microtia with unilateral renal agenesis and short stature. Am. J. Med. Genet., 158A: 1837–1840. doi: 10.1002/ajmg.a.33653
- Issue published online: 19 JUL 2012
- Article first published online: 18 JUN 2012
- Manuscript Accepted: 28 JUN 2010
- Manuscript Received: 27 JAN 2010
- renal agenesis;
We report on a 13-month-old girl of first cousin parents who presented with a combination of short stature, bilateral microtia, proportionate short stature, distinctive facial features (bitemporal narrowing, long philtrum), and agenesis of the left kidney and a small right kidney. Clinical findings did not match any previously described syndromes with the anomalies seen in the patient. We performed SNP array analysis to characterize the observation as a novel syndrome and this was normal. We propose that this represents a new syndrome, likely of autosomal recessive inheritance. © 2012 Wiley Periodicals, Inc.