双眼Goldenhar综合征合并左耳畸形1例
摘要
<正>患儿男性,5月龄。因生后发现双眼白色肿物于2017年4月来我科就诊。个人史及家族史:患儿系第1胎第1产,足月顺产,1 min、5 min Apgar评分均为10分,无吸氧史,脐带-胎盘无异常。父母非近亲结婚,母亲否认孕期服药及接受放射线史,否认糖尿病史,否认家族中有类似遗传病史。查体:神清,反应正常,心、肺听诊无异常,腹软,肝、脾不大,四肢无畸形,肌张力正常,双侧面部不对称,右侧面部丰满,左侧面部扁平、凹陷。左右唇红不对称,上下唇闭合不
引文
[1] GOLDENHAR M.Association malformative particulier syndrome dermoide epibulbaire,appendices auriculaires,fistula auris congenital sesrelations avecla dysostose mandibulofaciale[J].J Genet Hum,1952,1:243.
[2] GORLIN R J,JUE K L,JACOBSEN U,et al.Oculoauriculovertebral dysplasia[J].J Pediatr,1963,63:991-999.
[3] ASHOKAN C S,SREENIVASAN A,SARASWATHY G K.Goldenhar syndrome-review with case series[J].J Clin Diagn Res,2014,8(4):ZD17-ZD19.
[4] GOSWAMI M,BHUSHAN U,JANGRA B.Goldenhar syndrome:a case report with review[J].Int J Clin Pediatr Dent,2016,9(3):278-280.
[5] BELEZA-MEIRELES A,HART R,CLAYTON-SMITH J,et al.Oculoauriculo-vertebral spectrum:clinical and molecular analysis of 51 patients[J].Eur J Med Genet,2015,58(9):455-65.
[6] HARTSFIELD J K.Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (hemifacial microsomia)[J] .Orthod Craniofac Res,2007,10(3):121-128.
[7] JUGPAL T S,KUMAR J,GUPTA S,et al.Goldenhar syndrome with contralateral pulmonary aplasia:a rare association[J].J Radiol Case Rep,2016,10(1):35-40.
[8] 赵坡,孙丽红,马萌.Goldenhar综合征合并鼻部畸形一例[J].中国斜视与小儿眼科杂志,2014,(3):插页4-5.
[9] FISCHER M,GORENFLO M,EICHHORN J.First description of unilateral lung agenesis and anomalous pulmonary venous connection in a newborn with Goldenhar syndrome[J].Cardiol Young,2012,22(3):344-345.
[2] GORLIN R J,JUE K L,JACOBSEN U,et al.Oculoauriculovertebral dysplasia[J].J Pediatr,1963,63:991-999.
[3] ASHOKAN C S,SREENIVASAN A,SARASWATHY G K.Goldenhar syndrome-review with case series[J].J Clin Diagn Res,2014,8(4):ZD17-ZD19.
[4] GOSWAMI M,BHUSHAN U,JANGRA B.Goldenhar syndrome:a case report with review[J].Int J Clin Pediatr Dent,2016,9(3):278-280.
[5] BELEZA-MEIRELES A,HART R,CLAYTON-SMITH J,et al.Oculoauriculo-vertebral spectrum:clinical and molecular analysis of 51 patients[J].Eur J Med Genet,2015,58(9):455-65.
[6] HARTSFIELD J K.Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (hemifacial microsomia)[J] .Orthod Craniofac Res,2007,10(3):121-128.
[7] JUGPAL T S,KUMAR J,GUPTA S,et al.Goldenhar syndrome with contralateral pulmonary aplasia:a rare association[J].J Radiol Case Rep,2016,10(1):35-40.
[8] 赵坡,孙丽红,马萌.Goldenhar综合征合并鼻部畸形一例[J].中国斜视与小儿眼科杂志,2014,(3):插页4-5.
[9] FISCHER M,GORENFLO M,EICHHORN J.First description of unilateral lung agenesis and anomalous pulmonary venous connection in a newborn with Goldenhar syndrome[J].Cardiol Young,2012,22(3):344-345.