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...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2011-05, Vol.155 (5), p.1173-1177
Main Authors: Souza, Josiane, dal Vesco, Karin, Tonocchi, Rita, Closs‐Ono, Maria Cecília, Passos‐Bueno, Maria Rita, da Silva‐Freitas, Renato
Format: Article
Language:English
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
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.33975