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Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract

Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Patients with hemifacial microsomia and epibulbar dermoids are said to have Goldenhar syndrome (GHS). Four-month-old boy with whitish pupillary reflex...

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Detalles Bibliográficos
Autores principales: Shrestha, U. D., Adhikari, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617704/
https://www.ncbi.nlm.nih.gov/pubmed/26635984
http://dx.doi.org/10.1155/2015/435967
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author Shrestha, U. D.
Adhikari, S.
author_facet Shrestha, U. D.
Adhikari, S.
author_sort Shrestha, U. D.
collection PubMed
description Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Patients with hemifacial microsomia and epibulbar dermoids are said to have Goldenhar syndrome (GHS). Four-month-old boy with whitish pupillary reflex presented with the features of GHS in pediatric ophthalmology clinic. The child had ocular and auricular manifestations. There were no vertebral anomalies, but he had bilateral congenital cataract. The peculiarity of this case is the presence of the bilateral total congenital cataract, in association with CFM. There is absence of epibulbar dermoid or lipodermoid in the eyes, although the child had features of GHS. In addition to it, anesthetic intubation was smooth in this case. Any case diagnosed with CFM and/or GHS needs treatment through multidisciplinary approach, consultation in ophthalmology department is one of them.
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spelling pubmed-46177042015-12-03 Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract Shrestha, U. D. Adhikari, S. Case Rep Ophthalmol Med Case Report Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Patients with hemifacial microsomia and epibulbar dermoids are said to have Goldenhar syndrome (GHS). Four-month-old boy with whitish pupillary reflex presented with the features of GHS in pediatric ophthalmology clinic. The child had ocular and auricular manifestations. There were no vertebral anomalies, but he had bilateral congenital cataract. The peculiarity of this case is the presence of the bilateral total congenital cataract, in association with CFM. There is absence of epibulbar dermoid or lipodermoid in the eyes, although the child had features of GHS. In addition to it, anesthetic intubation was smooth in this case. Any case diagnosed with CFM and/or GHS needs treatment through multidisciplinary approach, consultation in ophthalmology department is one of them. Hindawi Publishing Corporation 2015 2015-10-08 /pmc/articles/PMC4617704/ /pubmed/26635984 http://dx.doi.org/10.1155/2015/435967 Text en Copyright © 2015 U. D. Shrestha and S. Adhikari. 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
Shrestha, U. D.
Adhikari, S.
Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract
title Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract
title_full Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract
title_fullStr Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract
title_full_unstemmed Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract
title_short Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract
title_sort craniofacial microsomia: goldenhar syndrome in association with bilateral congenital cataract
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617704/
https://www.ncbi.nlm.nih.gov/pubmed/26635984
http://dx.doi.org/10.1155/2015/435967
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