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The Richieri-Costa and Pereira syndrome: Report of two Brazilian siblings and review of literature

Authors


  • How to Cite this Article: Souza J, dal Vesco K, Tonocchi R, Closs-Ono MC, Passos-Bueno MR, da Silva-Freitas R. 2011. The Richieri-Costa and Pereira syndrome: Report of two Brazilian siblings and review of literature. Am J Med Genet Part A 155:1173–1177.

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. © 2011 Wiley-Liss, Inc.

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