Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association
Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses h...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2017/2625030 |
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| author | Nagendra Chaudhary Sandeep Shrestha Hemant Kumar Halwai |
| author_facet | Nagendra Chaudhary Sandeep Shrestha Hemant Kumar Halwai |
| author_sort | Nagendra Chaudhary |
| collection | DOAJ |
| description | Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits. Dextrocardia or pulmonary hypoplasia in GS has previously been reported separately. We report a 7-year-old female child of GS with combination of anomalies, dextrocardia, and pulmonary hypoplasia, which is a rare association. |
| format | Article |
| id | doaj-art-72de8bf16d774a1c92d16592aad306e7 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-72de8bf16d774a1c92d16592aad306e72025-02-03T07:25:35ZengWileyCase Reports in Genetics2090-65442090-65522017-01-01201710.1155/2017/26250302625030Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual AssociationNagendra Chaudhary0Sandeep Shrestha1Hemant Kumar Halwai2Department of Pediatrics, Universal College of Medical Sciences, Bhairahawa 32900, NepalDepartment of Pediatrics, Universal College of Medical Sciences, Bhairahawa 32900, NepalDepartment of Orthodontics, Universal College of Dental Sciences, Bhairahawa 32900, NepalGoldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits. Dextrocardia or pulmonary hypoplasia in GS has previously been reported separately. We report a 7-year-old female child of GS with combination of anomalies, dextrocardia, and pulmonary hypoplasia, which is a rare association.http://dx.doi.org/10.1155/2017/2625030 |
| spellingShingle | Nagendra Chaudhary Sandeep Shrestha Hemant Kumar Halwai Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association Case Reports in Genetics |
| title | Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association |
| title_full | Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association |
| title_fullStr | Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association |
| title_full_unstemmed | Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association |
| title_short | Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association |
| title_sort | goldenhar syndrome with dextrocardia and right pulmonary hypoplasia an unusual association |
| url | http://dx.doi.org/10.1155/2017/2625030 |
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