Richieri-Costa-Pereira Syndrome: Laryngological Findings

Abstract

Introduction: The Richieri-Costa-Pereira syndrome, described in 1992, is a rare autosomal recessive acrofacial dysostosis. A study suggests that this condition is caused by mutations in EIF4A3, a gene involved in RNA metabolism, important for mandible, laryngeal, and limb morphogenesis. This syndrome is characterized by Pierre-Robin sequence (glossoptosis, micrognathia, and cleft palate), microstomia, cleft mandible, short stature, severe limb defects, preaxial and postaxial abnormalities in hands, congenital talipes, and malformations of the larynx. The typical laryngeal abnormalities are short and round larynx, deformed or lack of epiglottis, abnormal aryepiglottic folds, and arytenoid anteriorization movement. There are 31 reported cases in Brazil, mostly in São Paulo state and only one non-Brazilian patient, in France, with a female-to-male sex ratio approximately of 1.8:1.