摘要
Goldenhar综合征由VonArlt于1845年首先报道,1952年Goldenhar详细描述其临床表现,包括眼球皮样囊肿、耳前附属物及下颌骨发育不全,并定义为一种综合征。其别名有眼-耳-脊柱发育不全、眼-耳-脊柱谱、Goldenhar—Gorlin综合征、面-耳-脊柱谱、第一二鳃弓综合征、半侧颜面短小等。
出处
《中华整形外科杂志》
CAS
CSCD
北大核心
2010年第5期394-397,共4页
Chinese Journal of Plastic Surgery
参考文献49
-
1Ibhanesebhor HA.Goldenhar syndrome (oculo-auriculo-vertebral dysplasia):report of two cases.East Afr Med J,1995,72 (5):333-334.
-
2Gorlin RL.Syndromes of the headand neck.4th ed.London:Oxford University Press,2001:790-797.
-
3Kaye CI,Martin AO,Rollnick BR,et al.Oculoauriculovertebral anomaly:segregation analysis.Am J Med Genet,1992,43 (6):913-917.
-
4Tasse C,Majewski F,B(o)hringer S,et al.A family with autosomal dominant oculo-auriculo-vertebral spectrum.Clin Dysmorphol,2007,16(1):1-7.
-
5Callier P,Faivre L,Thauvin-Robinet C,et al.Array-CGH in a series of 30 patients with mental retardation,dysmorphic features,and congenital malformations detected an interstitial lp22.2 - p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.Am J Med Genet A,2008,146A(16):2109-2115.
-
6Ala-Mello S,Siggberg L,Knuutila S,et al.Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly.Am J Med Genet A,2008,146A(19):2490-2494.
-
7Caccamese JF Jr,Costello BJ,Mooney MP.Novel deformity of the mandible in oculo-auriculo-vertebral spectrum:case report and literature review.J Oral Maxillofac Surg,2006,64 (8):1278-1282.
-
8Lafay-Cousin L,Payne E,Strother D,et al.Goldenhar phenotype in a child with distal 22q1 1.2 deletion and intracranial atypical teratoid rhabdoid tumor.Am J Med Genet A,2009,149A(12):2855-2859.
-
9Hathout EH,Elmendorf E,Bartley J.Hemifacial microsomia and abnormal chromosome 22.Am J Med Genet,1998,76 (1):71-73.
-
10Kobrynski L,Chitayat D,Zahed L,et al.Trisomy 22 and facioauriculovertebral (Goldenhar)sequence.Am J Med Genet,1993,46(1):68-71.
二级引证文献3
-
1余娟,王群,程云.产前超声测量胎儿生长参数结合胎儿肾脏体积估计胎儿体重的临床价值研究[J].中国现代医生,2020,58(20):77-79. 被引量:5
-
2黄瑞贞,孙丽娟,王莉,张铁娟,吴青青,迟文静.产前超声对第一二鳃弓综合征的诊断价值[J].中国医学影像学杂志,2022,30(10):1041-1044. 被引量:1
-
3王珊珊,李雪蕾,黄婷,王明莉,郑慧.产前超声经颅底横断面评估胎儿鼓室环[J].中国医学影像学杂志,2023,31(3):266-270.
-
1吴平凡,吴坚,陈林林.面颊部皮样囊肿伴皮瘘1例报道[J].口腔颌面外科杂志,2016,26(1):69-71. 被引量:1
-
2张海侠,李艳芳,冯长生.Goldenhar综合征行板层角膜移植1例[J].中国伤残医学,2009,17(5):78-79. 被引量:1
-
3沈舜尧,辛鹏飞,代杰文,王旭东,沈国芳.3dMD摄影测量系统在半侧颜面短小诊断中的初步应用[J].口腔颌面外科杂志,2012,22(4):261-264. 被引量:12
-
4杜晓岩,宋任游.第一二鳃弓综合征之大口畸形的整复体会[J].中国美容医学,2005,14(3):330-330. 被引量:2
-
5伊彪.矫治唇腭裂继发上颌骨发育不全两例[J].中华口腔医学杂志,2010,45(10):601-603.
-
6刘贤君,刘福兴,李吉辰.Goldenhar氏综合征1例报告[J].哈尔滨医药,1989,9(2):55-55.
-
7王敏红,尹巧绵,张继珍,吴明昌.第一、二鳃弓综合征三例[J].中华围产医学杂志,2009,12(6):483-484. 被引量:2
-
8李志军.鳃弓综合征1例[J].山东大学耳鼻喉眼学报,2010,24(5):52-52.
-
9侯明晶.切勿忽视儿童龋齿[J].健康管理,2016,0(7):85-88.
-
10傅跃先,向代理,张显文,王珊,邱林,唐毅.第一、二鳃弓综合征诊治总结[J].中华医学美容杂志,1996,2(4):184-184.