Opitz综合征即G综合征,是一组累及颅面部、呼吸、消化道及泌尿生殖系等部中线结构的先天性发育异常,在头颈部表现为宽颅缝、前囟大、眶距过远、鼻梁宽而扁平、鼻孔朝前、腭裂、唇裂、舌系带短缩、声嘶、喉气管裂、咽食管神经肌肉功能失调、吸气频繁而困难、吸气性喘鸣、吞咽困难、低位耳等,其他尚可有智力发育迟缓、高位气管分叉、气管软化、气管食管瘘、尿道下裂、肛门闭锁、十二指肠狭窄、胆囊发育不全、心肺畸形等。患者多幼儿,常需鼻胃管饲养及气管切开术以解救其吞咽和呼吸障碍,预后不好。自1969年Opitz首次报告4例同胞兄妹患者以来,文献中已有25例(12个家族)记载,多死于呼吸困难、肛门闭锁、心肺畸形。本征是先天性遗传病,属外显不全的常染色 Opitz syndrome is syndrome G, which is a group of congenital dysplasia involving the craniofacial region, respiratory, gastrointestinal and genitourinary departments such as midline structure in the head and neck showed wide cranial suture, anterior fontanelle, orbital distance Far, nose wide and flat, nose forward, cleft palate, cleft lip, tongue shortening, hoarseness, laryngotracheal tube, pharyngeal esophageal neuromuscular dysfunction, frequent and difficult inspiratory, wheezing, dysphagia, Low ear, other may still have mental retardation, high tracheal bifurcation, tracheal softening, tracheal esophageal fistula, hypospadias, anal atresia, duodenal stricture, gallbladder hypoplasia, heart and lung deformities. Patients with many children, often require nasogastric tube and tracheostomy to rescue their swallowing and respiratory disorders, the prognosis is not good. Since the first report of 4 siblings in Opitz in 1969, there are 25 documented cases (12 families) in the literature, most of whom died of dyspnea, anal atresia and cardio-pulmonary deformities. The intrinsic congenital genetic disease, is an incomplete staining of the often stained