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

Autor: Souza J; Assistance Center for Cleft Lip and Palate, CAIF, Curitiba, Paraná, Brazil. jositwin@yahoo.com.br, dal Vesco K, Tonocchi R, Closs-Ono MC, Passos-Bueno MR, da Silva-Freitas R
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2011 May; Vol. 155A (5), pp. 1173-7. Date of Electronic Publication: 2011 Apr 11.
DOI: 10.1002/ajmg.a.33975
Abstrakt: 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.
(Copyright © 2011 Wiley-Liss, Inc.)
Databáze: MEDLINE
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