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The Richieri‐Costa and Pereira syndrome: Report of two Brazilian siblings and review of literature
Author(s) -
Souza Josiane,
dal Vesco Karin,
Tonocchi Rita,
ClossOno Maria Cecília,
PassosBueno Maria Rita,
da SilvaFreitas Renato
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33975
Subject(s) - epiglottis , etiology , brother , larynx , medicine , anatomy , sister , pathology , anthropology , sociology
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.