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Abstract: Oculo-auriculo-vertebral spectrum(OAVS),also known as Goldenhar syndrome,hemifacial microsomia,oculo-auriculo-vertebral dysplasia and facio-auriculo-vertebral spectrum,is a developmental disorder associated with the first and second branchial arches.Most cases are sporadic,while some familial instances observed suggested that the etiology of OAVS heterogeneous.In this review,we summarize the OAVS epidemiology,classification and mainlyheterogeneous etiology.
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Key words:
- oculo-auriculo-vertebral spectrum /
- microtia /
- hemifacial microsomia
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[1] POSWILLO D.Otomandibular deformity:pathogenesis as a guide to reconstruction[J].J Maxillofac Surg,1974,2:64-72.
[2] MELNICK M.The etiology of external ear malformations and its relation to abnormalities of the middle ear,inner ear,and other organ systems[J].Birth Defects Orig Artic Ser,1980,16:303-331.
[3] GRABB W C.The first and second branchial arch syndrome[J].Plast Reconstr Surg,1965,36:485-508.
[4] KEOGH I J,TROULIS M J,MONROY A A,et al.Isolated microtia as a marker for unsuspected hemifacial microsomia[J].Arch Otolaryngol Head Neck Surg,2007,133:997-1001.
[5] TASSE C,BOHRINGER S,FISCHER S,et al.Oculo-auriculo-vertebral spectrum(OAVS):clinical evaluation and severity scoring of 53patients and proposal for a new classification[J].Eur J Med Genet,2005,48:397-411.
[6] COUSLEY R R.A comparison of two classification systems for hemifacial microsomia[J].Br J Oral Maxillofac Surg,1993,31:78-82.
[7] VENTO A R,LABRIE R A,MULLIKEN J B.The O.M.E.N.S.classification of hemifacial microsomia[J].Cleft Palate Craniofac J,1991,28:68-77.
[8] 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.
[9] LAMMER E J,CHEN D T,HOAR R M,et al.Retinoic acid embryopathy[J].N Engl J Med,1985,313:837-841.
[10] SMITHELLS R W.The incidence of limb and ear defects since the withdrawal of thalidomide[J].Lancet,1963,1:1095-1097.
[11] GUSTAVSON E E,CHEN H.Goldenhar syndrome,anterior encephalocele,and aqueductal stenosis following fetal primidone exposure[J].Teratology,1985,32:13-17.
[12] GHAREHBAGHI M M,GHAEMI M R.Goldenhar syndrome in an infant of diabetic mother[J].Iran J Pediatr,2010,20:131-134.
[13] KAPUR R,KAPUR R,SHEIKH S,et al.Hemifacial microsomia:a case report[J].J Indian Soc Pedod Prev Dent,2008,26 Suppl 1:S34-S40.
[14] WANG R,MARTINEZ-FRIAS M L,GRAHAM J J.Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence:A case-based and case-control approach[J].J Pediatr,2002,141:611-617.
[15] MILLER R,STEPHAN M J,HUME R F,et al.Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8in a liveborn[J].Fetal Diagn Ther,2001,16:120-122.
[16] PRIDJIAN G,GILL W L,SHAPIRA E.Goldenhar sequence and mosaic trisomy 22[J].Am J Med Genet,1995,59:411-413.
[17] DABIR T A,MORRISON P J.Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum:a case report[J].Clin Dysmorphol,2006,15:25-27.
[18] KOBRYNSKI L,CHITAYAT D,ZAHED L,et al.Trisomy 22and facioauriculovertebral(Goldenhar)sequence[J].Am J Med Genet,1993,46:68-71.
[19] HODES M E,GLEISER S,DEROSA G P,et al.Trisomy 7mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia[J].J Craniofac Genet Dev Biol,1981,1:49-55.
[20] ROORYCK C,STEF M,BURGELIN I,et al.2.3 Mb terminal deletion in 12p13.33associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene[J].Eur J Med Genet,2009,52:446-449.
[21] XU J,FAN Y S,SIU V M.A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH:is this a candidate region for the syndrome[J]?Am J Med Genet A,2008,146A:1886-1889.
[22] CALLIER P,FAIVRE L,THAUVIN-ROBINET C,et al.Array-CGH in a series of 30patients with mental retardation,dysmorphic features,and congenital malformations detected an interstitial 1p22.2-p31.1deletion in a patient with features overlapping the Goldenhar syndrome[J].Am J Med Genet A,2008,146A:2109-2115.
[23] DERBENT M,YILMAZ Z,BALTACI V,et al.Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects[J].Am J Med Genet A,2003,116A:129-135.
[24] LAFAY-COUSIN L,PAYNE E,STROTHER D,et al.Goldenhar phenotype in a child with distal 22q11.2deletion and intracranial atypical teratoid rhabdoid tumor[J].Am J Med Genet A,2009,149A:2855-2859.
[25] DIGILIO M C,MCDONALD-MCGINN D M,HEIKE C,et al.Three patients with oculo-auriculovertebral spectrum and microdeletion 22q11.2[J].Am J Med Genet A,2009,149A:2860-2864.
[26] HATHOUT E H,ELMENDORF E,BARTLEY J.Hemifacial microsomia and abnormal chromosome 22[J].Am J Med Genet,1998,76:71-73.
[27] 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.
[28] KELBERMAN D,TYSON J,CHANDLER D C,et al.Hemifacial microsomia:progress in understanding the genetic basis of a complex malformation syndrome[J].Hum Genet,2001,109:638-645.
[29] ROORYCK C,SOUAKRI N,CAILLEY D,et al.Array-CGH analysis of a cohort of 86patients with oculoauriculovertebral spectrum[J].Am J Med Genet A,2010,152A:1984-1989.
[30] NORTHUP J K,MATALON D,HAWKINS J C,et al.Pericentric inversion,inv(14)(p11.2q22.3),in a 9-month old with features of Goldenhar syndrome[J].Clin Dysmorphol,2010,19:185-189.
[31] BALLESTA-MARTINEZ M J,LOPEZ-GONZALEZ V,DULCET L A,et al.Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication[J].Am J Med Genet A,2013,161A:2030-2035.
[32] FISCHER S,LUDECKE H J,WIECZOREK D,et al.Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum[J].Hum Mol Genet,2006,15:581-587.
[33] GODEL V,REGENBOGEN L,GOYA V,et al.Autosomal dominant Goldenhar syndrome[J].Birth Defects Orig Artic Ser,1982,18:621-628.
[34] KAYE C I,MARTIN A O,ROLLNICK B R,et al.Oculoauriculovertebral anomaly:segregation analysis[J].Am J Med Genet,1992,43:913-917.
[35] TASSE C,MAJEWSKI F,BOHRINGER S,et al.A family with autosomal dominant oculo-auriculo-vertebral spectrum[J].Clin Dysmorphol,2007,16:1-7.
[36] VENDRAMINI-PITTOLI S,KOKITSU-NAKATA N M.Oculoauriculovertebral spectrum:report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature[J].Clin Dysmorphol,2009,18:67-77.
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