Literature DB >> 19373684

Coats' disease, megalopapilla and Cornelia de Lange syndrome.

Mark R Barakat1, Elias I Traboulsi, Jonathan E Sears.   

Abstract

Cornelia de Lange syndrome (CdLS), a congenital disorder characterized by growth and mental retardation, hirsutism, and skeletal and cardiac anomalies, has been associated with a number of ophthalmic abnormalities including synophrys, long eyelashes, myopia, nasolacrimal duct obstruction, and ptosis. Only one case of Coats' disease has been described in the setting of this syndrome.(1) We describe a second case of Coats' disease in a five-year-old boy with this condition.

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Year:  2009        PMID: 19373684     DOI: 10.1080/13816810902744613

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN: 1381-6810            Impact factor:   1.803


  2 in total

1.  Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.

Authors:  Lei Feng; Daizhan Zhou; Zhou Zhang; Yun Liu; Yabo Yang
Journal:  J Hum Genet       Date:  2014-08-07       Impact factor: 3.172

2.  Cavitary anomalies of the optic disc: Different entities or part of a single spectrum of disease?

Authors:  Anuradha Ganesh
Journal:  Oman J Ophthalmol       Date:  2014-05
  2 in total

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