A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210

Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial an...

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Autores principales: Prasad, K. N. Venkateshwara, Rajha, Arvind, Vegi, Pradeep Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3760303/
https://www.ncbi.nlm.nih.gov/pubmed/24024059
http://dx.doi.org/10.1155/2013/591350
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author Prasad, K. N. Venkateshwara
Rajha, Arvind
Vegi, Pradeep Kumar
author_facet Prasad, K. N. Venkateshwara
Rajha, Arvind
Vegi, Pradeep Kumar
author_sort Prasad, K. N. Venkateshwara
collection PubMed
description Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically. We report a case of monozygotic female twins discordant for Goldenhar syndrome with hemifacial microsomia and the dysplasia of auricular pinna.
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spelling pubmed-37603032013-09-10 A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210 Prasad, K. N. Venkateshwara Rajha, Arvind Vegi, Pradeep Kumar Case Rep Pediatr Case Report Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically. We report a case of monozygotic female twins discordant for Goldenhar syndrome with hemifacial microsomia and the dysplasia of auricular pinna. Hindawi Publishing Corporation 2013 2013-08-19 /pmc/articles/PMC3760303/ /pubmed/24024059 http://dx.doi.org/10.1155/2013/591350 Text en Copyright © 2013 K. N. Venkateshwara Prasad et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Prasad, K. N. Venkateshwara
Rajha, Arvind
Vegi, Pradeep Kumar
A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210
title A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210
title_full A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210
title_fullStr A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210
title_full_unstemmed A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210
title_short A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210
title_sort case of monozygotic twins: the value of discordant monozygotic twins in goldenhar syndrome—omim%164210
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3760303/
https://www.ncbi.nlm.nih.gov/pubmed/24024059
http://dx.doi.org/10.1155/2013/591350
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