Diagnostic challenges in Goldenhar syndrome – a case report
Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, represents a rare congenital complex of anomalies, involving the development of the first and second brachial arches during the first embrionary stage. In addition to the craniofacial disorders, Goldenhar syndrome can include centr...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Amaltea Medical Publishing House
2021-12-01
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| Series: | Romanian Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://rjp.com.ro/articles/2021.4/RJP_2021_4_Art-13.pdf |
| _version_ | 1811232901411373056 |
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| author | Paul Costin Pariza Vlad Dima Corina Grigoriu Costin Berceanu Tiberiu-Augustin Georgescu Bianca-Margareta Mihai Consuela-Madalina Gheorghe Roxana Elena Bohiltea |
| author_facet | Paul Costin Pariza Vlad Dima Corina Grigoriu Costin Berceanu Tiberiu-Augustin Georgescu Bianca-Margareta Mihai Consuela-Madalina Gheorghe Roxana Elena Bohiltea |
| author_sort | Paul Costin Pariza |
| collection | DOAJ |
| description | Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, represents a rare congenital complex of anomalies, involving the development of the first and second brachial arches during the first embrionary stage. In addition to the craniofacial disorders, Goldenhar syndrome can include central nervous system, heart, skeleton or kidneys pathologies as well as vertebral defects. We present the case of a Goldenhar syndrome whose first pathologic sign was tetralogy of Fallot, with associated cardiovascular disorders (atrial septal defect type ostium secundum, and single umbilical artery) and bilateral microtia, with malformation of auditory canal, mandibular hypoplasia and a single epibulbar dermoid.
The Goldenhar syndrome was diagnosed after birth, the article emphasizing the difficulties of prenatal diagnosis. |
| first_indexed | 2024-04-12T11:12:10Z |
| format | Article |
| id | doaj.art-615d1f0fed8e4f5c937f241b4b02bbff |
| institution | Directory Open Access Journal |
| issn | 1454-0398 2069-6175 |
| language | English |
| last_indexed | 2024-04-12T11:12:10Z |
| publishDate | 2021-12-01 |
| publisher | Amaltea Medical Publishing House |
| record_format | Article |
| series | Romanian Journal of Pediatrics |
| spelling | doaj.art-615d1f0fed8e4f5c937f241b4b02bbff2022-12-22T03:35:35ZengAmaltea Medical Publishing HouseRomanian Journal of Pediatrics1454-03982069-61752021-12-0170427027210.37897/RJP.2021.4.13Diagnostic challenges in Goldenhar syndrome – a case reportPaul Costin Pariza0Vlad Dima1Corina Grigoriu2Costin Berceanu3Tiberiu-Augustin Georgescu4Bianca-Margareta Mihai5Consuela-Madalina Gheorghe6Roxana Elena Bohiltea7Department of Obstetrics and Gynecology, “Carol Davila“ University of Medicine and Pharmacy, Bucharest, RomaniaFilantropia Clinical Hospital, Bucharest, RomaniaDepartment of Obstetrics and Gynecology, “Carol Davila“ University of Medicine and Pharmacy, Bucharest, Romania; Department of Obstetrics and Gynecology, Emergency University Hospital, Bucharest, Romania Department of Obstetrics and Gynecology, Craiova University of Medicine and Pharmacy, Craiova, RomaniaDepartment of Pathology, “Carol Davila“ University of Medicine and Pharmacy, Bucharest, RomaniaFilantropia Clinical Hospital, Bucharest, RomaniaDepartment of Marketing and Medical Technology, “Carol Davila“ University of Medicine and Pharmacy, Bucharest, RomaniaDepartment of Obstetrics and Gynecology, “Carol Davila“ University of Medicine and Pharmacy, Bucharest, Romania; Filantropia Clinical Hospital, Bucharest, RomaniaGoldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, represents a rare congenital complex of anomalies, involving the development of the first and second brachial arches during the first embrionary stage. In addition to the craniofacial disorders, Goldenhar syndrome can include central nervous system, heart, skeleton or kidneys pathologies as well as vertebral defects. We present the case of a Goldenhar syndrome whose first pathologic sign was tetralogy of Fallot, with associated cardiovascular disorders (atrial septal defect type ostium secundum, and single umbilical artery) and bilateral microtia, with malformation of auditory canal, mandibular hypoplasia and a single epibulbar dermoid. The Goldenhar syndrome was diagnosed after birth, the article emphasizing the difficulties of prenatal diagnosis.https://rjp.com.ro/articles/2021.4/RJP_2021_4_Art-13.pdfgoldenhar syndromemicrotiamandibular hypoplasiatetralogy of fallotatrial septal defect |
| spellingShingle | Paul Costin Pariza Vlad Dima Corina Grigoriu Costin Berceanu Tiberiu-Augustin Georgescu Bianca-Margareta Mihai Consuela-Madalina Gheorghe Roxana Elena Bohiltea Diagnostic challenges in Goldenhar syndrome – a case report Romanian Journal of Pediatrics goldenhar syndrome microtia mandibular hypoplasia tetralogy of fallot atrial septal defect |
| title | Diagnostic challenges in Goldenhar syndrome – a case report |
| title_full | Diagnostic challenges in Goldenhar syndrome – a case report |
| title_fullStr | Diagnostic challenges in Goldenhar syndrome – a case report |
| title_full_unstemmed | Diagnostic challenges in Goldenhar syndrome – a case report |
| title_short | Diagnostic challenges in Goldenhar syndrome – a case report |
| title_sort | diagnostic challenges in goldenhar syndrome a case report |
| topic | goldenhar syndrome microtia mandibular hypoplasia tetralogy of fallot atrial septal defect |
| url | https://rjp.com.ro/articles/2021.4/RJP_2021_4_Art-13.pdf |
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