Literature DB >> 1609826

Short stature, mental retardation, eye anomalies, and cleft lip/palate.

A Richieri-Costa1, M L Guion-Almeida.   

Abstract

The syndrome: We describe 3 Brazilian brothers presenting a cluster of signs strongly suggesting a "new" MCA/MR syndrome. The main clinical signs include short stature, microbrachycephaly, mental retardation, palpebral ptosis, coloboma of iris and retina, nystagmus, strabismus, and cleft lip/palate. This is either an autosomal or X-linked recessive trait.

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Mesh:

Year:  1992        PMID: 1609826     DOI: 10.1002/ajmg.1320420407

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


  1 in total

1.  Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome?

Authors:  J P Fryns
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

  1 in total

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