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Am. J. Med. Genet. A · May 2011
Review Case ReportsThe Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature.
- Josiane Souza, Karin dal Vesco, Rita Tonocchi, Maria Cecília Closs-Ono, Maria Rita Passos-Bueno, and Renato da Silva-Freitas.
- Assistance Center for Cleft Lip and Palate, CAIF, Curitiba, Paraná, Brazil. jositwin@yahoo.com.br
- Am. J. Med. Genet. A. 2011 May 1; 155A (5): 1173-7.
AbstractRichieri-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.Copyright © 2011 Wiley-Liss, Inc.
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