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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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2013/591350 |
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| author | K. N. Venkateshwara Prasad Arvind Rajha Pradeep Kumar Vegi |
| author_facet | K. N. Venkateshwara Prasad Arvind Rajha Pradeep Kumar Vegi |
| author_sort | K. N. Venkateshwara Prasad |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-0c2bf0b1ce3b4ad79dd2cd4c4c6c02a2 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-0c2bf0b1ce3b4ad79dd2cd4c4c6c02a22025-08-20T03:54:19ZengWileyCase Reports in Pediatrics2090-68032090-68112013-01-01201310.1155/2013/591350591350A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210K. N. Venkateshwara Prasad0Arvind Rajha1Pradeep Kumar Vegi2Department of Paediatrics, Sri Devaraj Urs Medical College, Kolar, Karnataka 563101, IndiaDepartment of Paediatrics, Sri Devaraj Urs Medical College, Kolar, Karnataka 563101, IndiaScientific Research Laboratory-AHS, Department of Biochemistry, Sri Devaraj Urs Academy of Higher Education and Research, Kolar, Karnataka 563101, IndiaGoldenhar 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.http://dx.doi.org/10.1155/2013/591350 |
| spellingShingle | K. N. Venkateshwara Prasad Arvind Rajha Pradeep Kumar Vegi A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210 Case Reports in Pediatrics |
| 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 |
| url | http://dx.doi.org/10.1155/2013/591350 |
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