Literature DB >> 1632438

Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome.

A Richieri-Costa1, S C Pereira.   

Abstract

We report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome.

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Year:  1992        PMID: 1632438     DOI: 10.1002/ajmg.1320420511

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


  2 in total

1.  [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

Review 2.  Mechanism, factors, and physiological role of nonsense-mediated mRNA decay.

Authors:  Tobias Fatscher; Volker Boehm; Niels H Gehring
Journal:  Cell Mol Life Sci       Date:  2015-08-18       Impact factor: 9.261

  2 in total

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