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Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature

Cornelia de Lange syndrome (CdLS), also called Brachmann-de Lange syndrome, is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, ophthalmological abnormalities, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations...

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Autores principales: Shenoy, Bhamy Hariprasad, Gupta, Amit, Sachdeva, Virender, Kekunnaya, Ramesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134549/
https://www.ncbi.nlm.nih.gov/pubmed/25136230
http://dx.doi.org/10.4103/0974-620X.137149
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author Shenoy, Bhamy Hariprasad
Gupta, Amit
Sachdeva, Virender
Kekunnaya, Ramesh
author_facet Shenoy, Bhamy Hariprasad
Gupta, Amit
Sachdeva, Virender
Kekunnaya, Ramesh
author_sort Shenoy, Bhamy Hariprasad
collection PubMed
description Cornelia de Lange syndrome (CdLS), also called Brachmann-de Lange syndrome, is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, ophthalmological abnormalities, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. Most common and consistent ophthalmic features reported are nasolacrimal duct obstruction, long and curly eyelashes, blepharitis, ptosis, synophrys, telecanthus, hypertelorism, microcornea, peripapillary pigment ring, and myopia. In this report we report a case of a 5-year old boy who presented to our institution with complaint of blurring of vision in the right eye since birth. A diagnosis of Cornelia de Lange syndrome was arrived at based on the characteristic external and ophthalmic examination. He was found to have a rare association of optic nerve head coloboma in the right eye and a novel finding of an optic disk pit in the left eye. The association of optic disk pit with CdLS has never been reported earlier. We aim to provide a thorough review of literature of this not so uncommon syndrome.
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spelling pubmed-41345492014-08-18 Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature Shenoy, Bhamy Hariprasad Gupta, Amit Sachdeva, Virender Kekunnaya, Ramesh Oman J Ophthalmol Case Report Cornelia de Lange syndrome (CdLS), also called Brachmann-de Lange syndrome, is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, ophthalmological abnormalities, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. Most common and consistent ophthalmic features reported are nasolacrimal duct obstruction, long and curly eyelashes, blepharitis, ptosis, synophrys, telecanthus, hypertelorism, microcornea, peripapillary pigment ring, and myopia. In this report we report a case of a 5-year old boy who presented to our institution with complaint of blurring of vision in the right eye since birth. A diagnosis of Cornelia de Lange syndrome was arrived at based on the characteristic external and ophthalmic examination. He was found to have a rare association of optic nerve head coloboma in the right eye and a novel finding of an optic disk pit in the left eye. The association of optic disk pit with CdLS has never been reported earlier. We aim to provide a thorough review of literature of this not so uncommon syndrome. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4134549/ /pubmed/25136230 http://dx.doi.org/10.4103/0974-620X.137149 Text en Copyright: © 2014 Shenoy HB, et al http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Case Report
Shenoy, Bhamy Hariprasad
Gupta, Amit
Sachdeva, Virender
Kekunnaya, Ramesh
Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature
title Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature
title_full Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature
title_fullStr Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature
title_full_unstemmed Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature
title_short Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature
title_sort cornelia de lange syndrome with optic disk pit: novel association and review of literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134549/
https://www.ncbi.nlm.nih.gov/pubmed/25136230
http://dx.doi.org/10.4103/0974-620X.137149
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