Literature DB >> 23794199

Richieri-costa and Pereira syndrome: severe phenotype.

Salmo Raskin1, Marcela Souza, Mariana C Medeiros, Mayra Manfron, Debora C Chong E Silva.   

Abstract

Richieri-Costa and Pereira syndrome, described in 1992, comprises short stature, Robin sequence, cleft mandible, limb malformations, and short larynx, deformed or lack of epiglottis, and abnormal aryepiglottic folds. There are 32 reported cases, only one described outside Brazil. We describe a 4-month-old boy with the most severe phenotype yet reported.
Copyright © 2013 Wiley Periodicals, Inc.

Entities:  

Keywords:  Richieri-Costa and Pereira syndrome; oral cleft; severe phenotype

Mesh：

Year:  2013        PMID： 23794199     DOI： 10.1002/ajmg.a.35989

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  3 in total

1.  EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.

Authors:  Emily E Miller; Gerson S Kobayashi; Camila M Musso; Miranda Allen; Felipe A A Ishiy; Luiz Carlos de Caires; Ernesto Goulart; Karina Griesi-Oliveira; Roseli M Zechi-Ceide; Antonio Richieri-Costa; Debora R Bertola; Maria Rita Passos-Bueno; Debra L Silver
Journal:  Hum Mol Genet       Date:  2017-06-15       Impact factor: 6.150

2.  Tessier number 30 clefts with congenital heart defects.

Authors:  Mona Tafreshi; Soroosh Aminolsharieh Najafi; Reyhaneh Hasheminejad; Arezoo Mirfazeli; Akbar Shafiee
Journal:  Iran Red Crescent Med J       Date:  2015-03-31       Impact factor: 0.611

3.  A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.

Authors:  Francine P Favaro; Lucas Alvizi; Roseli M Zechi-Ceide; Debora Bertola; Temis M Felix; Josiane de Souza; Salmo Raskin; Stephen R F Twigg; Andrea M J Weiner; Pablo Armas; Ezequiel Margarit; Nora B Calcaterra; Gregers R Andersen; Simon J McGowan; Andrew O M Wilkie; Antonio Richieri-Costa; Maria L G de Almeida; Maria Rita Passos-Bueno
Journal:  Am J Hum Genet       Date:  2013-12-19       Impact factor: 11.025
  3 in total

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