Literature DB >> 8266999

Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause.

A Richieri-Costa1, M L Guion-Almeida.   

Abstract

We report on 2 unrelated Brazilian girls, born to nonconsanguineous parents, and presenting structural central nervous system defects, hydrocephaly, macrocephaly, craniosynostosis, prominent forehead, anophthalmia, and abnormal nares. These patients may have a previously undescribed recurrent-pattern cerebro-oculo-nasal syndrome.

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Year:  1993        PMID: 8266999     DOI: 10.1002/ajmg.1320470523

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


  1 in total

1.  Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients.

Authors:  Maria Leine Guion-Almeida; Siulan Vendramini-Pittoli; Antonio Richieri-Costa
Journal:  Clin Ophthalmol       Date:  2007-06
  1 in total

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