Richieri-Costa-Pereira Syndrome: Laryngological Findings

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.

Objectives: This study aims to describe the laryngological findings of a 7-year-old patient with Richieri-Costa-Pereira syndrome.

Resumed Report: A 7-year-old patient with Richieri-Costa-Pereira syndrome was referred to a tertiary hospital with the complaint of hoarseness that progressively worsens throughout the day, with a history of vocal abuse and several previous intubations. He had no airway obstruction or feeding difficulties. A nasofibrolaryngoscopy was performed and showed agenesia of the epiglottis, abnormality of the aryepiglottic folds, arytenoid anteriorization movement during phonation, and edema of the interarytenoid mucosa. Vocal folds were freely mobile, with no lesions. The patient was referred to phototherapy.

Conclusion: This case is intended to emphasize the laryngeal malformations that can be observed in patients with Richieri-Costa-Pereira syndrome and underline the importance of proper evaluation and multidisciplinary approach.