Literature DB >> 8074148

Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant.

M Suri1, M Kabra, I C Verma.   

Abstract

We report on a 1-month-old infant with blepharophimosis, telecanthus, ear anomalies, and microstomia. He also had a long philtrum and a narrow, high-arched palate. This case is very similar to the cases reported by Simosa et al. [1989: Am J Med Genet 32:184-186]. In addition, our patient had tongue tie and camptodactyly of fingers.

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Year:  1994        PMID: 8074148     DOI: 10.1002/ajmg.1320510309

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


  1 in total

Review 1.  A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

Authors:  T Cai; D A Tagle; X Xia; P Yu; X X He; L Y Li; J H Xia
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

  1 in total

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