Literature DB >> 750707

[Severe microphthalmus with Patau's syndrome (author's transl)].

Z Pap, I Buckó, S Szakáll, Z Papp.   

Abstract

The authors describe a new-born child with Patau's syndrome in which D-trisomy was zytogenetically proved. The interest in this case is justified by the fact that an anophthalmos was suspected on clinical examination, but the histological examination showed a severe grade of bulb hypoplasia. The authors stress the significance of chromosome examination in cases of multiple congenital deformities associated with eye changes.

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Year:  1978        PMID: 750707

Source DB:  PubMed          Journal:  Klin Monbl Augenheilkd        ISSN: 0023-2165            Impact factor:   0.700


  1 in total

1.  Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.

Authors:  V Váradi; L Szabó; Z Papp
Journal:  J Med Genet       Date:  1980-04       Impact factor: 6.318

  1 in total

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