title: The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature.
abstract: Richieri-Costa and Pereira syndrome is a rare autosomal recessive disorder characterized specially by Pierre Robin sequence with cleft mandible and limb anomalies. There are a typical laryngeal anomaly which encompass short and round larynx, absent or abnormal epiglottis, and abnormal aryepiglottic folds. Most patients reported were from Brazil. We describe a brother and sister with Richieri-Costa and Pereira syndrome on another Brazilian family documenting their physical findings and laryngeal defects. We also review the literature and discuss the main clinical characteristics and etiology.
authors.affiliation: Assistance Center for Cleft Lip and Palate, CAIF, Curitiba, Paraná, Brazil. jositwin@yahoo.com.br
authors.forename: Josiane
authors.initials: J
authors.lastname: Souza
authors.forename: Karin
authors.initials: K
authors.lastname: dal Vesco
authors.forename: Rita
authors.initials: R
authors.lastname: Tonocchi
authors.forename: Maria Cecília
authors.initials: MC
authors.lastname: Closs-Ono
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: Renato
authors.initials: R
authors.lastname: da Silva-Freitas
mesh_terms: D002675:Child, Preschool; D003025:Clubfoot / Q000175:diagnosis / Q000473:pathology; D005260:Female; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D010855:Pierre Robin Syndrome / Q000175:diagnosis / Q000473:pathology; D035781:Siblings; D013577:Syndrome