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The 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...
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| Published in: | American journal of medical genetics. Part A 2011-05, Vol.155 (5), p.1173-1177 |
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| Main Authors: | , , , , , |
| Format: | Article |
| Language: | English |
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| cites | cdi_FETCH-LOGICAL-c4255-d3d0d9fe7c7ad35d43b4557a65d56ee03cde2862a04a60cd73defc6e6b753a863 |
| container_end_page | 1177 |
| container_issue | 5 |
| container_start_page | 1173 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 155 |
| creator | Souza, Josiane dal Vesco, Karin Tonocchi, Rita Closs‐Ono, Maria Cecília Passos‐Bueno, Maria Rita da Silva‐Freitas, Renato |
| description | 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. |
| doi_str_mv | 10.1002/ajmg.a.33975 |
| format | article |
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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. 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Part A</title><addtitle>Am J Med Genet A</addtitle><description>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. 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| ispartof | American journal of medical genetics. Part A, 2011-05, Vol.155 (5), p.1173-1177 |
| issn | 1552-4825 1552-4833 1552-4833 |
| language | eng |
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| source | Wiley |
| subjects | acrofacial dysostoses autosomal recessive inheritance Biological and medical sciences Child, Preschool cleft mandible Clubfoot - diagnosis Clubfoot - pathology consanguinity Epiglottis Etiology Female Hand Deformities, Congenital - diagnosis Hand Deformities, Congenital - pathology Hereditary diseases Humans Infant Larynx Limbs Male Mandible Medical genetics Medical sciences Pierre Robin Syndrome - diagnosis Pierre Robin Syndrome - pathology Richieri‐Costa and Pereira syndrome Siblings Syndrome talipes |
| title | The Richieri‐Costa and Pereira syndrome: Report of two Brazilian siblings and review of literature |
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