The oculoauriculovertebral spectrum, commonly known as Goldenhar Syndrome, was a heterogeneous set of genetic disorders with phenotypic traits such as craniofacial deformities, cardiac, vertebral, and central nervous system problems. VSDs, atrial septal defects, patent ductus arteriosus, Tetralogy of Fallot, double outlet right ventricle, aberrant right subclavian artery, coarctation of the aorta, transposition of the great arteries, double inlet left ventricle, cor triatriatum, pulmonary artery stenosis, aortic stenosis, persistent left superior vena cava, partially or entirely abnormal pulmonary Persistent fifth aortic arch, also known as the double-lumen aortic arch, was a relatively unusual cardiovascular aberration that usually occurs in conjunction with other cardiac problems. Researchers presented a 7-month-old boy with facial asymmetry, choanal atresia, cleft palate, bilateral preauricular skin tags, bilateral hypoplastic ear lobes, epibulbar dermoid cyst, rib, vertebrae, and cardiovascular problems. Malalignment ventricular septal defect and double-lumen aorta, also known as the persistent fifth aortic arch, were found on echocardiography and computed tomography. Goldenhar Syndrome could be accompanied by a variety of cardiovascular abnormalities. Investigators provided a case of the persistent fifth aortic arch and Oculo-auriculo-vertebral spectrum, which was a previously unreported connection in the literature.
Source:bmcpediatr.biomedcentral.com/articles/10.1186/s12887-022-03137-0
