American journal of medical genetics. Part A
-
Am. J. Med. Genet. A · May 2011
Review Case ReportsThe Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature.
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. ⋯ 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.