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Goldenhar Syndrome: An Atypical Presentation With Developmental and Speech Delay
Goldenhar syndrome is a rare congenital disorder that affects the development of the craniofacial region, spine, and ears. It is characterized by a wide range of symptoms that can vary in severity and may include facial asymmetry, microtia or anotia, cleft lip or palate, vertebral anomalies, and eye...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10105492/ https://www.ncbi.nlm.nih.gov/pubmed/37069882 http://dx.doi.org/10.7759/cureus.36225 |
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author | Jayaprakasan, Srilakshmi K Waheed, Muhammad Daniyal Batool, Saima Pimentel Campillo, Jorge Nageye, Maymona E Holder, Shaniah S |
author_facet | Jayaprakasan, Srilakshmi K Waheed, Muhammad Daniyal Batool, Saima Pimentel Campillo, Jorge Nageye, Maymona E Holder, Shaniah S |
author_sort | Jayaprakasan, Srilakshmi K |
collection | PubMed |
description | Goldenhar syndrome is a rare congenital disorder that affects the development of the craniofacial region, spine, and ears. It is characterized by a wide range of symptoms that can vary in severity and may include facial asymmetry, microtia or anotia, cleft lip or palate, vertebral anomalies, and eye abnormalities. Although the cause of Goldenhar syndrome is not fully understood, it is thought to be related to disruptions in the early embryonic development of the affected tissues. The diagnosis is typically made based on physical examination and imaging studies, and management may involve a multidisciplinary team of healthcare professionals, including geneticists, audiologists, and plastic surgeons. Treatment options depend on the specific symptoms and may include surgery, hearing aids, and speech therapy. While Goldenhar syndrome can have significant physical and functional implications for affected individuals, early detection and appropriate management can help improve outcomes and quality of life. |
format | Online Article Text |
id | pubmed-10105492 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-101054922023-04-16 Goldenhar Syndrome: An Atypical Presentation With Developmental and Speech Delay Jayaprakasan, Srilakshmi K Waheed, Muhammad Daniyal Batool, Saima Pimentel Campillo, Jorge Nageye, Maymona E Holder, Shaniah S Cureus Pediatrics Goldenhar syndrome is a rare congenital disorder that affects the development of the craniofacial region, spine, and ears. It is characterized by a wide range of symptoms that can vary in severity and may include facial asymmetry, microtia or anotia, cleft lip or palate, vertebral anomalies, and eye abnormalities. Although the cause of Goldenhar syndrome is not fully understood, it is thought to be related to disruptions in the early embryonic development of the affected tissues. The diagnosis is typically made based on physical examination and imaging studies, and management may involve a multidisciplinary team of healthcare professionals, including geneticists, audiologists, and plastic surgeons. Treatment options depend on the specific symptoms and may include surgery, hearing aids, and speech therapy. While Goldenhar syndrome can have significant physical and functional implications for affected individuals, early detection and appropriate management can help improve outcomes and quality of life. Cureus 2023-03-16 /pmc/articles/PMC10105492/ /pubmed/37069882 http://dx.doi.org/10.7759/cureus.36225 Text en Copyright © 2023, Jayaprakasan et al. https://creativecommons.org/licenses/by/3.0/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 author and source are credited. |
spellingShingle | Pediatrics Jayaprakasan, Srilakshmi K Waheed, Muhammad Daniyal Batool, Saima Pimentel Campillo, Jorge Nageye, Maymona E Holder, Shaniah S Goldenhar Syndrome: An Atypical Presentation With Developmental and Speech Delay |
title | Goldenhar Syndrome: An Atypical Presentation With Developmental and Speech Delay |
title_full | Goldenhar Syndrome: An Atypical Presentation With Developmental and Speech Delay |
title_fullStr | Goldenhar Syndrome: An Atypical Presentation With Developmental and Speech Delay |
title_full_unstemmed | Goldenhar Syndrome: An Atypical Presentation With Developmental and Speech Delay |
title_short | Goldenhar Syndrome: An Atypical Presentation With Developmental and Speech Delay |
title_sort | goldenhar syndrome: an atypical presentation with developmental and speech delay |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10105492/ https://www.ncbi.nlm.nih.gov/pubmed/37069882 http://dx.doi.org/10.7759/cureus.36225 |
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