Richieri-costa and Pereira syndrome: Severe phenotype


  • Conflict of interest: none.

Correspondence to:

Dr. Salmo Raskin, Laboratorio Genetika, GENETICS ALAMEDA AUGUSTO STELLFELD, 1516 Curitiba 80730-150, Brazil.



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.