Williams C A, Frias J L
Department of Pediatrics, University of Florida, Gainesville.
Am J Med Genet. 1987 Oct;28(2):297-302. doi: 10.1002/ajmg.1320280206.
We have studied a 3-month-old boy with severe gastroesophageal reflux, feeding difficulties, neck and upper limb dystonia, abnormal ears, normal genitalia, and anatomically apparently normal larynx and trachea. Initially diagnosed as suffering from Sandifer "syndrome," he was treated with a gastrostomy and Nissen fundoplication. However, his characteristic facial appearance subsequently led to the diagnosis of G syndrome.
我们研究了一名3个月大的男婴，他患有严重的胃食管反流、喂养困难、颈部和上肢肌张力障碍、耳部异常、生殖器正常，以及解剖学上看似正常的喉部和气管。最初被诊断为患有桑迪费尔“综合征”，他接受了胃造口术和nissen胃底折叠术治疗。然而，他独特的面部外观随后导致了G综合征的诊断。
