Conflict of interest: none.
Richieri-costa and Pereira syndrome: Severe phenotype
Version of Record online: 21 JUN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 1999–2003, August 2013
How to Cite
2013. Richieri-Costa and Pereira syndrome: Severe phenotype. Am J Med Genet Part A. 161A:1999–2003., , , , .
- Issue online: 24 JUL 2013
- Version of Record online: 21 JUN 2013
- Manuscript Accepted: 28 MAR 2013
- Manuscript Received: 10 OCT 2012
- Richieri-Costa and Pereira syndrome;
- oral cleft;
- severe phenotype
Richieri-Costa and Pereira syndrome, described in 1992, comprises short stature, Robin sequence, cleft mandible, limb malformations, and short larynx, deformed or lack of epiglottis, and abnormal aryepiglottic folds. There are 32 reported cases, only one described outside Brazil. We describe a 4-month-old boy with the most severe phenotype yet reported. © 2013 Wiley Periodicals, Inc.