Systemic and ophthalmological findings in Cornelia de Lange syndrome

Małgorzata Mrugacz; Danuta Sielicka

eISSN: 2719-3209
ISSN: 0023-2157

Klinika Oczna / Acta Ophthalmologica Polonica

Current issue Archive Videos Articles in press About the journal Supplements Editorial board Reviewers Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures

Editorial System

Submit your Manuscript

Editorial Policies

Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

1/2012
vol. 114

Send email

Copy url:

abstract:

Review paper

Systemic and ophthalmological findings in Cornelia de Lange syndrome

Małgorzata Mrugacz

¹

,

Danuta Sielicka

¹

Klinika Okulistyki Dziecięcej z Ośrodkiem Leczenia Zeza Uniwersytetu Medycznego w Białymstoku

Klinika Oczna 2012, 114 (1)

Online publish date: 2012/03/29

View full text Get citation

Cornelia de Lange Syndrome (CdLS, de Lange syndrome, Brachmann-de Lange syndrome), is a relatively rare genetic disorder,

characterized by set of clinical abnormalities concerning different organs and systems. Phenotypic diagnosis is based on a specific dysmorphic features seen after the birth. We described a genetic basis, hereditary patterns, characteristic dysmorphic

features and the most common clinical findings of patients Cornelia de Lange Syndrome concerning eye and vision, hearing,

cardiovascular, respiratory, gastrointestinal, genitourinary, skeletal and psychomotor development.

keywords:

Systemic and ophthalmological findings in Cornelia de Lange syndrome

Małgorzata Mrugacz 1 , Danuta Sielicka 1

Cornelia de Lange syndrome, genetic basis, eye

Małgorzata Mrugacz

¹

,

Danuta Sielicka

¹