| The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature. | |
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MedLine Citation:
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PMID: 21485002 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Josiane Souza; Karin dal Vesco; Rita Tonocchi; Maria Cecília Closs-Ono; Maria Rita Passos-Bueno; Renato da Silva-Freitas |
Publication Detail:
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Type: Case Reports; Journal Article; Review Date: 2011-04-11 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 155A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-04-20 Completed Date: 2011-08-01 Revised Date: 2011-12-06 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 1173-7 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Wiley-Liss, Inc. |
Affiliation:
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Assistance Center for Cleft Lip and Palate, CAIF, Curitiba, Paraná, Brazil. jositwin@yahoo.com.br |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Clubfoot* / diagnosis, pathology Female Hand Deformities, Congenital* / diagnosis, pathology Humans Infant Male Pierre Robin Syndrome* / diagnosis, pathology Siblings* Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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