-
Abstract: Goldenhar syndrome is a condition characterized by alterations involving the development of the structures of the first and second branchial arches. The abnormalities primarily affect the face, the eyes, the spine, and the ears, and the auricular abnormalities are associated with possible hearing loss. Here, we present a review of the literature on Goldenhar syndrome, discussing what is known about the clinical phenotype, the aetiology, audiological findings and treatment,in order to provide certain help for people about disease diagnosis, genetic counseling and hearing intervention.
-
Key words:
- Goldenhar syndrome /
- clinical phenotype /
- the aetiology /
- genetic counseling /
- hearing /
- ear deformities
-
[1] SIDDIQUA A,ABUBAKER P, SARASWATI F K, et al. Bifid tongue:Differential diagnosis and a case report[J].J Oral Maxillofac Surg Med Pathol,2015,27:686-689.
[2] DERBENT M,ORVN U A,VARAN B, et al.A new syndrome with in the oculo-auriculo-vertebral spectrum:microtia,atresia of the external auditory canal,vertebral anomaly,and complex cardiac defects[J].Clin Dysmorphol,2005,14:27-30.
[3] KONAS E,CANTER H I,MAVILI M E.Goldenhar complex with atypical associated anomalies:is the spectrum still widening[J]?Craniofac Surg,2006,17:669-672.
[4] HIRSCHFELDER U,PIECHOT E,SCHULTE M,et al.Abnormalities of the TMJ and the musculature in the oculo-auriculo-vertebral spectrum(OAV).A CT study[J]. J Orofac Orthop,2004,65:204-216.
[5] LIERDE K V. Craniofaciale afwijkingen en articulatiestoornissen[M]. Houten:Bohn Stafleu van Loghum, 2014:29-43.
[6] GUPTA P,FARIDI M M A,KUMAR R,et al. Hydrolethalus syndrome in a twin gestation[J]. J Pediatr Neurol, 2011, 9:131-133.
[7] 李世莲,叶婴茀,汤洪. Goldenhar综合征三例[J]. 中华医学遗传学志,2003,20(6):481-481.
[8] TASSE C,BÖHRINGER S,FISCHER S,et al.Oculo-auriculo-vertebralspectrum(OAVS):clinical evaluation and severity scoring of 53 patients and proposal for a new classification[J].Eur J Med Genet,2005,48:397-411.
[9] DALAL A,BHAVANI G S L,TOGARRATI P P, et al. Analysis of the WISP3, gene in Indian families with progressive pseudorheumatoid dysplasia[J]. Am J Med Genet A, 2012, 158A:2820-2828.
[10] WENGER T L,MCDONALD-MCGINN D M, ZACKAI E H. Congenital Malformations of the Head and Neck[M]. New York:Springer New York,2014:1-22.
[11] BROTTO D, MANARA R, VIO S,et al. Salivary glands abnormalities in oculo-auriculo-vertebral spectrum[J].Clin Oral Invest, 2018, 22:395-400.
[12] BELEZA-MEIRELES A,CLAYTON-SMITH J,SARAIVA J M,et al.Oculo-auriculo-vertebral spectrum:a review of the literature and geneticupdate[J].J Med Genet,2014,51:635-645.
[13] 林丽蓉,林文涛,余满松. 医学综合征大全[M].北京:中国科学技术出版社,1994:937-937.
[14] LUQUETTI D V, HEIKE C L, HING A V,et al. Microtia:epidemiology and genetics[J].Am J Med Genet A, 2012, 158A:124-139.
[15] DESCARTES M.Oculo-auriculo-vertebral spectrum with 5p15.33-pter deletion[J].Clin Dysmorphol, 2006, 15:153-154.
[16] JOSIFOVA D J,PATTON M A,MARKS K. Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement[J].Clin Dysmorphol, 2004, 13:151-153.
[17] ALA-MELLO S,SIGGBERG L,KNUUTILA S,et al.Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly[J].Am J Med Genet A, 2008, 146A:2490-2494.
[18] ABDELMOITY A T,HALL J J,BITTEL D C,et al. 1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay[J]. Eur J Med Genet, 2011, 54:198-203.
[19] HERMAN G E, GREENBERG F, LEDBETTER D H. Multiple congenital a noma ly/menta I retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)[J].Am J Med Genet,1988,29:909-915.
[20] BALLESTA-MARTÍNEZ M J,LÓPEZ-GONZÁLEZ V,DULCET L A, et al. Autosomal dominant Oculo-auriculo-vertebral spectrum and 14q23.1 microduplication[J]. Am J Med Genet A, 2013,161A:2030-2035.
[21] TASSE C,MAJEWSK F,BOHRINGER S,et al.A family with autosomal dominant oculo-auriculo-vertebral spectrum[J]. Clin Dysmorphol,2007,16:1-7.
[22] KAYE C I,MARTIN A O,ROLLNICK B R, et al. Oculoauriculovertebral anomaly:segregation analysis[J].Am J Med Genet,1992,43:913-917.
[23] WIECZOREK D, LUDWIG M, BOEHRINGER S, et al. Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome[J].Human Genetics,2007,121:369-376.
[24] MEENAN K, KADAKIA S, BERNSTEIN J. Revisiting the work of Maurice Goldenhar-an overview of Goldenhar syndrome[J]. Eur J Plastic Surg, 2014, 37:575-582.
[25] PINBORG A, HENNINGSEN A K, MALCHAU S S, et al. Congenital anomalies after assisted reproductive technology[J]. Fertil Steril, 2013, 99:327-332.
[26] SKARZYNSKI H,POROWSKI M,PODSKARBI-FAYETTE R.Treatment of otological features of the oculoauriculovertebral dysplasia (Goldenhar syndrome)[J].Pediatr Otorhinolaryngol,2009,73:915-921.
[27] MORRISON P J, MULHOLLAND H C, CRAIG B G, et al. Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome)[J]. Am J Med Genet,1992,44:425-428.
[28] BISDAS S, LENARZ M,LENARZ T,et al.Inner ear abnormalities in patients with Goldenhar syndrome[J].Otol Neurotol,2005,26:398-404.
[29] SLEIFER P,GORSKY NDE S,GOETZE T B,et al.Audiological findings in patients with oculo-auriculo-vertebral spectrum[J].Int Arch Otorhinolaryngol,2015,19:5-9.
[30] ROSA R F M, SILVA A P D, GOETZE T B, et al. Anormalidades auriculares em pacientes com espectro óculo-aurículo-vertebral (síndrome de Goldenhar)[J]. Braz J Otorhinolaryngol, 2011, 77:455-460.
[31] BROSCO K C,ZORZETTO N L, COSTA A R.Perfil Audiológico de indivíduos portadores da syndrome de Goldenhar[J].Rev Bras Otorrinolaringol,2004,70:645-649.
[32] 王璞,樊悦,陈晓巍. 眼-耳-脊柱综合征的病因学研究进展[J].临床耳鼻咽喉头颈外科杂志,2015,29(24):2184-2188.
计量
- 文章访问数: 116
- PDF下载数: 72
- 施引文献: 0