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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Main Authors: U. D. Shrestha, S. Adhikari
Format: Article
Language:English
Published: Wiley 2015-01-01
Series:Case Reports in Ophthalmological Medicine
Online Access:http://dx.doi.org/10.1155/2015/435967
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author U. D. Shrestha
S. Adhikari
author_facet U. D. Shrestha
S. Adhikari
author_sort U. D. Shrestha
collection DOAJ
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 doaj-art-543a75e5095e4f5199035109c231c8ef2025-02-03T05:44:40ZengWileyCase Reports in Ophthalmological Medicine2090-67222090-67302015-01-01201510.1155/2015/435967435967Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital CataractU. D. Shrestha0S. Adhikari1National Academy of Medical Sciences, Kathmandu, NepalNational Academy of Medical Sciences, Kathmandu, NepalCraniofacial 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.http://dx.doi.org/10.1155/2015/435967
spellingShingle U. D. Shrestha
S. Adhikari
Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract
Case Reports in Ophthalmological Medicine
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
url http://dx.doi.org/10.1155/2015/435967
work_keys_str_mv AT udshrestha craniofacialmicrosomiagoldenharsyndromeinassociationwithbilateralcongenitalcataract
AT sadhikari craniofacialmicrosomiagoldenharsyndromeinassociationwithbilateralcongenitalcataract