Literature DB >> 8267000

Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients.

A Richieri-Costa1, S C Pereira.   

Abstract

We report on 2 unrelated Brazilian boys with the syndrome of autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet. This is the first report of male patients.

Entities:  

Mesh:

Year:  1993        PMID: 8267000     DOI: 10.1002/ajmg.1320470524

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  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

2.  [Laryngeal malformations in the Richieri Costa and Pereira syndrome with airway obstruction].

Authors:  Patrícia Barcelos Ogando; Fábio Pires; Rita Carolina Pozzer Krummenauer; Marcus Vinícius Martins Collares; José Faibes Lubianca Neto
Journal:  Braz J Otorhinolaryngol       Date:  2011 Jan-Feb
  2 in total

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