Hemifacial microsomia--oculo-auriculo-vertebral dysplasia. A patient with overlapping features.
Hemifacial microsomia--oculo-auriculo-vertebral dysplasia. A patient with overlapping features.
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半面短小症——眼耳椎发育不良。
DOI：
10.1136/jmg.7.2.185
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发表时间：
1970
影响因子：
4
通讯作者：
F. Fraser
中科院分区：
文献类型：
--
作者：
H. Pashayan;L. Pinsky;F. Fraser
1952年，眼科医生Goldenhar报道了一例伴有外耳和中耳畸形的球上皮样瘤患者，均发生在左侧。Goldenhar还将文献中报道的另外30例延髓皮样瘤和耳畸形病例制成表格。他的结论是延髓皮样瘤、耳前皮赘和瘘管三联征伊萨一种罕见但特殊的畸形复合体。Goldenhar还将眼耳综合征的特征与下颌骨面骨发育不全的特征进行了比较。他提到了后者的三个非典型病例（Jorio，1936; Tranon-Sfalangacon和Velissaropoulos，1951; Paufique，Etienne和Moreau，1952），并提出眼耳综合征和下颌骨面骨发育不全之间存在关系。Weyers和Thier在1958年描述了三例他们称之为眼椎综合征的病例，其特征是单侧眼畸形、面部骨骼畸形和脊椎异常。他们强调这种综合征不同于Goldenhar描述的眼耳综合征。1963年，Gorlin埃塔尔回顾了以Goldenhar为名字的症状综合体。他们将“眼耳综合征”与“眼椎综合征”结合起来，并引入了“眼耳椎综合征”这一术语
In1952Goldenhar, anophthalmologist, reported apatient withanepibulbar dermoid associated with malformations oftheexternal andmiddle ear, all ontheleft side.A skeletal survey onthispatient didnotreveal thepresence ofanymalformations of thevertebrae orelsewhere. Goldenhar also tabulated 30othercaseswithepibulbar dermoids and earabnormalities reported intheliterature. He concluded thatthetriad ofepibulbar dermoids, pre-auricular skintags, andfistulae isa rarebut specific complex ofmalformations. Thistriad was later referred toastheoculo-auricular syndrome (Hoffmann-Egg andVelissaropoulos, 1953; Vannas, 1955).Goldenhar alsocompared thefeatures of theoculo-auricular syndrome withthose ofmandibulofacial dysostosis. Hereferred tothree atypical cases ofthelatter (Jorio, 1936; Tranon-Sfalangacon andVelissaropoulos, 1951; Paufique, Etienne, and Moreau, 1952), andsuggested that arelation existed between theoculo-auricular syndrome andmandibulofacial dysostosis. Weyers andThier in1958described three cases of whatthey referred toastheoculovertebral syndrome characterized byunilateral malformations ofthe eye, thebonesoftheface, andvertebral anomalies. Theyemphasized thatthis syndrome differed from theoculo-auricular syndrome described byGoldenhar. In1963,Gorlin etal.reviewed thesymptom complex bearing theeponymofGoldenhar. They combined the'oculo-auricular syndrome' withthe 'oculo-vertebral syndrome', andintroduced the term'oculo-auriculovertebral