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Goldenhar syndrome with blepharophimosis and limb deformities: a case report

BACKGROUND: Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been reported. Here, we describe a patient who wa...

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Autores principales: Ding, Xia, Wang, Xi, Cao, Yuan, Zhang, Jiaying, Lin, Ming, Fan, Xianqun, Li, Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106733/
https://www.ncbi.nlm.nih.gov/pubmed/30134872
http://dx.doi.org/10.1186/s12886-018-0872-5
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author Ding, Xia
Wang, Xi
Cao, Yuan
Zhang, Jiaying
Lin, Ming
Fan, Xianqun
Li, Jin
author_facet Ding, Xia
Wang, Xi
Cao, Yuan
Zhang, Jiaying
Lin, Ming
Fan, Xianqun
Li, Jin
author_sort Ding, Xia
collection PubMed
description BACKGROUND: Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been reported. Here, we describe a patient who was diagnosed with Goldenhar syndrome in association with blepharophimosis, ocular hypertelorism, hearing loss and limb deformities. CASE PRESENTATION: A 10-year-old male was first referred to our ophthalmology clinic on 2009–2-11 for ocular hypertelorism and microphthalmia when he had chin-up position. In the first ophthalmic examination, his palpebral fissure length was 19 mm on the right and 20 mm on the left, both palpebral fissure height was 4 mm, the inner intercanthal distance was 63 mm, both upper margin reflex distances were − 1 mm, the myodynamia of the levator palpebrae muscle was 2 mm on the right and 3 mm on the left, and his visual acuity was 20/40 on the right and 20/32 on the left. A physical examination revealed the patient had developed limb deformities in his hands, wrists, elbows and shoulders along with hearing loss. The patient was diagnosed with Goldenhar syndrome because his clinical presentations included ocular hypertelorism, hearing loss, and multiple acral joint deformities. He underwent a first operation in 2009 and a second in 2015. The second operation achieved a satisfactory result in which the horizontal fissure length was 28 mm on both sides, both palpebral fissure height was 10 mm, the inner intercanthal distance was 30 mm, and both of the upper margin reflex distances were 4 mm. He continued to wear hearing aids as usual. His hearing loss and joint deformities were slated for long-term follow-up at his parents’ request. CONCLUSION: The patient, diagnosed with Goldenhar syndrome in association with blepharophimosis, ocular hypertelorism, hearing loss and limb deformities, underwent two operations and achieved a satisfactory result. The patient was submitted to long-term follow-up observations and symptomatic treatments that vary with age and systemic associations, as needed. When treating patients with Goldenhar syndrome, ophthalmology specialists should cooperate with a multi-disciplinary team of clinicians and reach agreement regarding the appropriate systemic and comprehensive treatments.
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spelling pubmed-61067332018-08-29 Goldenhar syndrome with blepharophimosis and limb deformities: a case report Ding, Xia Wang, Xi Cao, Yuan Zhang, Jiaying Lin, Ming Fan, Xianqun Li, Jin BMC Ophthalmol Case Report BACKGROUND: Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been reported. Here, we describe a patient who was diagnosed with Goldenhar syndrome in association with blepharophimosis, ocular hypertelorism, hearing loss and limb deformities. CASE PRESENTATION: A 10-year-old male was first referred to our ophthalmology clinic on 2009–2-11 for ocular hypertelorism and microphthalmia when he had chin-up position. In the first ophthalmic examination, his palpebral fissure length was 19 mm on the right and 20 mm on the left, both palpebral fissure height was 4 mm, the inner intercanthal distance was 63 mm, both upper margin reflex distances were − 1 mm, the myodynamia of the levator palpebrae muscle was 2 mm on the right and 3 mm on the left, and his visual acuity was 20/40 on the right and 20/32 on the left. A physical examination revealed the patient had developed limb deformities in his hands, wrists, elbows and shoulders along with hearing loss. The patient was diagnosed with Goldenhar syndrome because his clinical presentations included ocular hypertelorism, hearing loss, and multiple acral joint deformities. He underwent a first operation in 2009 and a second in 2015. The second operation achieved a satisfactory result in which the horizontal fissure length was 28 mm on both sides, both palpebral fissure height was 10 mm, the inner intercanthal distance was 30 mm, and both of the upper margin reflex distances were 4 mm. He continued to wear hearing aids as usual. His hearing loss and joint deformities were slated for long-term follow-up at his parents’ request. CONCLUSION: The patient, diagnosed with Goldenhar syndrome in association with blepharophimosis, ocular hypertelorism, hearing loss and limb deformities, underwent two operations and achieved a satisfactory result. The patient was submitted to long-term follow-up observations and symptomatic treatments that vary with age and systemic associations, as needed. When treating patients with Goldenhar syndrome, ophthalmology specialists should cooperate with a multi-disciplinary team of clinicians and reach agreement regarding the appropriate systemic and comprehensive treatments. BioMed Central 2018-08-22 /pmc/articles/PMC6106733/ /pubmed/30134872 http://dx.doi.org/10.1186/s12886-018-0872-5 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Ding, Xia
Wang, Xi
Cao, Yuan
Zhang, Jiaying
Lin, Ming
Fan, Xianqun
Li, Jin
Goldenhar syndrome with blepharophimosis and limb deformities: a case report
title Goldenhar syndrome with blepharophimosis and limb deformities: a case report
title_full Goldenhar syndrome with blepharophimosis and limb deformities: a case report
title_fullStr Goldenhar syndrome with blepharophimosis and limb deformities: a case report
title_full_unstemmed Goldenhar syndrome with blepharophimosis and limb deformities: a case report
title_short Goldenhar syndrome with blepharophimosis and limb deformities: a case report
title_sort goldenhar syndrome with blepharophimosis and limb deformities: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106733/
https://www.ncbi.nlm.nih.gov/pubmed/30134872
http://dx.doi.org/10.1186/s12886-018-0872-5
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