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Goldenhar syndrome: the importance of an ophthalmological approach
The article describes a case of Goldenhar syndrome that had been diagnosed by an ophthalmologist in a medical consultation by school bullying due to a choristoma. A 15-year-old male patient, who had a nodular lesion with hair in the inferior temporal corneal-limbo-conjunctival of the left eye, was r...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Romanian Society of Ophthalmology
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7739018/ https://www.ncbi.nlm.nih.gov/pubmed/33367184 http://dx.doi.org/10.22336/rjo.2020.68 |
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author | Malta, Pio Guilherme Vilani, da Silva Rezende Aline de Miranda, Cordeiro Frederico Fouad, Ibrahim Larissa Castro, Curi Cláudio Borgatti, Moura Érica |
author_facet | Malta, Pio Guilherme Vilani, da Silva Rezende Aline de Miranda, Cordeiro Frederico Fouad, Ibrahim Larissa Castro, Curi Cláudio Borgatti, Moura Érica |
author_sort | Malta, Pio Guilherme |
collection | PubMed |
description | The article describes a case of Goldenhar syndrome that had been diagnosed by an ophthalmologist in a medical consultation by school bullying due to a choristoma. A 15-year-old male patient, who had a nodular lesion with hair in the inferior temporal corneal-limbo-conjunctival of the left eye, was reported. He also had a facial asymmetry, with mild mandibular hypoplasia and malformation of the left external ear, where only an auricular appendage was formed. He denied similar family history and the history of genetic diseases, but revealed that his mother had used ibuprofen during the first 3 months of pregnancy and had gestational diabetes mellitus. Excisional biopsy of the eye lesion was performed and revealed a dermoid cyst. After the exegesis and with adequate multidisciplinary monitoring, the patient reported being very satisfied with the aesthetic result, returning with more confidence to his daily activities. That was a typical case of Goldenhar syndrome that has remained undiagnosed and untreated for more than a decade due to a lack of diagnosis despite its classic presentation. The delay in the approach resulted in social stigma and profound psychosocial damage. The importance of disseminating the correct knowledge of this pathology and of having an early multidisciplinary approach in these patients is emphasized, since the impact on the quality of life is significantly high. |
format | Online Article Text |
id | pubmed-7739018 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Romanian Society of Ophthalmology |
record_format | MEDLINE/PubMed |
spelling | pubmed-77390182020-12-22 Goldenhar syndrome: the importance of an ophthalmological approach Malta, Pio Guilherme Vilani, da Silva Rezende Aline de Miranda, Cordeiro Frederico Fouad, Ibrahim Larissa Castro, Curi Cláudio Borgatti, Moura Érica Rom J Ophthalmol Case Reports The article describes a case of Goldenhar syndrome that had been diagnosed by an ophthalmologist in a medical consultation by school bullying due to a choristoma. A 15-year-old male patient, who had a nodular lesion with hair in the inferior temporal corneal-limbo-conjunctival of the left eye, was reported. He also had a facial asymmetry, with mild mandibular hypoplasia and malformation of the left external ear, where only an auricular appendage was formed. He denied similar family history and the history of genetic diseases, but revealed that his mother had used ibuprofen during the first 3 months of pregnancy and had gestational diabetes mellitus. Excisional biopsy of the eye lesion was performed and revealed a dermoid cyst. After the exegesis and with adequate multidisciplinary monitoring, the patient reported being very satisfied with the aesthetic result, returning with more confidence to his daily activities. That was a typical case of Goldenhar syndrome that has remained undiagnosed and untreated for more than a decade due to a lack of diagnosis despite its classic presentation. The delay in the approach resulted in social stigma and profound psychosocial damage. The importance of disseminating the correct knowledge of this pathology and of having an early multidisciplinary approach in these patients is emphasized, since the impact on the quality of life is significantly high. Romanian Society of Ophthalmology 2020 /pmc/articles/PMC7739018/ /pubmed/33367184 http://dx.doi.org/10.22336/rjo.2020.68 Text en ©Romanian Society of Ophthalmology http://creativecommons.org/licenses/by/2.0/ 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 work is properly cited. |
spellingShingle | Case Reports Malta, Pio Guilherme Vilani, da Silva Rezende Aline de Miranda, Cordeiro Frederico Fouad, Ibrahim Larissa Castro, Curi Cláudio Borgatti, Moura Érica Goldenhar syndrome: the importance of an ophthalmological approach |
title | Goldenhar syndrome: the importance of an ophthalmological approach
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title_full | Goldenhar syndrome: the importance of an ophthalmological approach
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title_fullStr | Goldenhar syndrome: the importance of an ophthalmological approach
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title_full_unstemmed | Goldenhar syndrome: the importance of an ophthalmological approach
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title_short | Goldenhar syndrome: the importance of an ophthalmological approach
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title_sort | goldenhar syndrome: the importance of an ophthalmological approach |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7739018/ https://www.ncbi.nlm.nih.gov/pubmed/33367184 http://dx.doi.org/10.22336/rjo.2020.68 |
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