The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature.
Am J Med Genet A
; 155A(5): 1173-7, 2011 May.
Article
em En
| MEDLINE
| ID: mdl-21485002
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Pierre Robin
/
Deformidades Congênitas da Mão
/
Pé Torto Equinovaro
/
Irmãos
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Estados Unidos