Article
Richieri-costa and Pereira syndrome: severe phenotype.
American journal of medical genetics. Part A - 1 Aug 2013
Raskin Salmo, Souza Marcela, Medeiros Mariana C, Manfron Mayra, Chong E Silva Debora C
Abstract excerpt
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.
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