Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who pr...

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Detalles Bibliográficos
Autores principales: Kothari, Mihir, Manurung, Florence, Mithiya, Bhavesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350285/
https://www.ncbi.nlm.nih.gov/pubmed/22606474
http://dx.doi.org/10.1155/2011/784259
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author Kothari, Mihir
Manurung, Florence
Mithiya, Bhavesh
author_facet Kothari, Mihir
Manurung, Florence
Mithiya, Bhavesh
author_sort Kothari, Mihir
collection PubMed
description Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.
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spelling pubmed-33502852012-05-17 Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome Kothari, Mihir Manurung, Florence Mithiya, Bhavesh Case Rep Ophthalmol Med Case Report Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental. Hindawi Publishing Corporation 2011 2011-12-22 /pmc/articles/PMC3350285/ /pubmed/22606474 http://dx.doi.org/10.1155/2011/784259 Text en Copyright © 2011 Mihir Kothari et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kothari, Mihir
Manurung, Florence
Mithiya, Bhavesh
Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome
title Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome
title_full Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome
title_fullStr Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome
title_full_unstemmed Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome
title_short Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome
title_sort simultaneous occurrence of duane retraction syndrome with marfan syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350285/
https://www.ncbi.nlm.nih.gov/pubmed/22606474
http://dx.doi.org/10.1155/2011/784259
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AT manurungflorence simultaneousoccurrenceofduaneretractionsyndromewithmarfansyndrome
AT mithiyabhavesh simultaneousoccurrenceofduaneretractionsyndromewithmarfansyndrome

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