Richieri-costa and Pereira syndrome: severe phenotype.Am J Med Genet A. 2013 Aug; 161A(8):1999-2003.AJ
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.