Literature DB >> 9128938

Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome.

D Shah1, R Jones, H Porter, P Turnpenny.   

Abstract

We report on a male infant with bilateral microphthalmia, esophageal atresia, and cryptorchidism. To our knowledge only 4 cases with a similar combination of congenital abnormalities have been previously reported, and it is likely that this represents a distinct entity. We suggest the name "anophthalmia-esophageal-genital-syndrome."

Entities:  

Mesh：

Year:  1997        PMID： 9128938     DOI： 10.1002/(sici)1096-8628(19970516)70:2<171::aid-ajmg13>3.0.co;2-g

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


  4 in total

1.  Association of oesophageal atresia, anophthalmia and renal duplex.

Authors:  Irena Petrackova; Oldrich Pozler; Zdenek Kokstein; Jan Zizka; Jana Dedkova; Pavel Rejtar; Zdenek Fiedler; Peter Kuliacek
Journal:  Eur J Pediatr       Date:  2004-06       Impact factor: 3.183

Review 2.  Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.

Authors:  C Shaw-Smith
Journal:  J Med Genet       Date:  2005-11-18       Impact factor: 6.318

3.  Congenital aplasia of the optic chiasm and esophageal atresia: a case report.

Authors:  Stefano Pensiero; Paolo Cecchini; Paola Michieletto; Gloria Pelizzo; Maurizio Madonia; Fulvio Parentin
Journal:  J Med Case Rep       Date:  2011-08-01

4.  Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.

Authors:  Louise Amlie-Wolf; Tanya Bardakjian; Sarina M Kopinsky; Linda M Reis; Elena V Semina; Adele Schneider
Journal:  Am J Med Genet A       Date:  2021-09-25       Impact factor: 2.578
  4 in total

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