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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...

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Autores principales: Jayaprakasan, Srilakshmi K, Waheed, Muhammad Daniyal, Batool, Saima, Pimentel Campillo, Jorge, Nageye, Maymona E, Holder, Shaniah S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
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.
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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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