Sutphen R, Galan-Gomez E, Cortada X, Newkirk P N, Kousseff B G
Department of Pediatrics, University of South Florida, Tampa 33617-3451, USA.
Clin Genet. 1995 Aug;48(2):66-71. doi: 10.1111/j.1399-0004.1995.tb04057.x.
Tracheoesophageal fistula, with or without esophageal atresia (TEF/EA) appears to be a defect of blastogenesis, as is the oculoauriculovertebral (Goldenhar) spectrum (OAVS), with which it has occasionally been associated. We reviewed the records of all OAVS patients evaluated through the University of South Florida Regional Genetics Program between 1985 and 1993. Of 60 OAVS patients, three had TEF/EA. These results suggest that TEF/EA in association with OAVS is underreported. The occurrence of TEF/EA should prompt a thorough search for other known anomalies of OAVS.
气管食管瘘,伴或不伴食管闭锁(TEF/EA)似乎是一种胚胎发育异常,眼耳脊椎(Goldenhar)综合征(OAVS)也是如此,二者偶尔会同时出现。我们回顾了1985年至1993年间通过南佛罗里达大学区域遗传学项目评估的所有OAVS患者的记录。在60例OAVS患者中,有3例患有TEF/EA。这些结果表明,与OAVS相关的TEF/EA报告不足。TEF/EA的出现应促使对OAVS的其他已知异常进行全面检查。