Srijan Utkarsh, Pratibha Sharma, Harshit Tyagi, N. Nischal
{"title":"扩大的戈登哈尔综合征\"--一种罕见的病症","authors":"Srijan Utkarsh, Pratibha Sharma, Harshit Tyagi, N. Nischal","doi":"10.25259/crcr_6_2024","DOIUrl":null,"url":null,"abstract":"Goldenhar syndrome is a rare congenital condition occurring due to defects in the first and second branchial arches and encompasses a wide range of anomalies involving craniofacial structures, vertebrae, and internal organs, typically manifesting unilaterally. The causes for the defects are heterogenous with most cases being sporadic; however, the exact etiology of the disorder is still unknown. In this case report, we present a case of an adult male presenting with features of Goldenhar syndrome with ipsilateral pulmonary aplasia, which is a rare association.","PeriodicalId":419021,"journal":{"name":"Case Reports in Clinical Radiology","volume":"9 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The “expanded Goldenhar syndrome” – A rare entity\",\"authors\":\"Srijan Utkarsh, Pratibha Sharma, Harshit Tyagi, N. Nischal\",\"doi\":\"10.25259/crcr_6_2024\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Goldenhar syndrome is a rare congenital condition occurring due to defects in the first and second branchial arches and encompasses a wide range of anomalies involving craniofacial structures, vertebrae, and internal organs, typically manifesting unilaterally. The causes for the defects are heterogenous with most cases being sporadic; however, the exact etiology of the disorder is still unknown. In this case report, we present a case of an adult male presenting with features of Goldenhar syndrome with ipsilateral pulmonary aplasia, which is a rare association.\",\"PeriodicalId\":419021,\"journal\":{\"name\":\"Case Reports in Clinical Radiology\",\"volume\":\"9 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-03-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Clinical Radiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25259/crcr_6_2024\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Clinical Radiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25259/crcr_6_2024","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Goldenhar syndrome is a rare congenital condition occurring due to defects in the first and second branchial arches and encompasses a wide range of anomalies involving craniofacial structures, vertebrae, and internal organs, typically manifesting unilaterally. The causes for the defects are heterogenous with most cases being sporadic; however, the exact etiology of the disorder is still unknown. In this case report, we present a case of an adult male presenting with features of Goldenhar syndrome with ipsilateral pulmonary aplasia, which is a rare association.