Chaudhary Nagendra, Shrestha Sandeep, Halwai Hemant Kumar
Department of Pediatrics, Universal College of Medical Sciences, Bhairahawa 32900, Nepal.
Department of Orthodontics, Universal College of Dental Sciences, Bhairahawa 32900, Nepal.
Case Rep Genet. 2017;2017:2625030. doi: 10.1155/2017/2625030. Epub 2017 Mar 9.
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.
Goldenhar综合征(GS)是一种罕见疾病,由于第一和第二鳃弓发育缺陷所致,其特征为涉及面部、眼睛、耳朵、脊椎、心脏和肺部的多种异常组合。尽管已经提出了各种假说,包括其遗传关联和许多其他病因,但GS的病因尚未完全明确。面部不对称和下颌骨发育不全是GS的特征性表现,此外还有小耳畸形、耳前附属物和耳前凹。GS患者的右位心或肺发育不全此前已有单独报道。我们报告了一名患有GS的7岁女童,她同时存在多种异常、右位心和肺发育不全,这种关联较为罕见。