一例单卵双胞胎病例：不一致的单卵双胞胎在Goldenhar综合征（OMIM%164210）中的价值。

Prasad K N Venkateshwara, Rajha Arvind, Vegi Pradeep Kumar

Department of Paediatrics, Sri Devaraj Urs Medical College, Kolar, Karnataka 563101, India.

Case Rep Pediatr. 2013;2013:591350. doi: 10.1155/2013/591350. Epub 2013 Aug 19.

Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically. We report a case of monozygotic female twins discordant for Goldenhar syndrome with hemifacial microsomia and the dysplasia of auricular pinna.

戈尔登哈综合征是一种罕见的发育障碍，其特征为半侧颜面短小、眼球结膜囊肿、耳部畸形和脊柱异常。由于单卵双胞胎被认为基因相同，单卵双胞胎之间疾病表型的不一致在颅面畸形、心脏、脊柱和中枢神经系统缺陷方面偶尔会有所不同。我们报告一例单卵双胞胎女性，其中一人患有戈尔登哈综合征，伴有半侧颜面短小和耳廓发育异常，另一人未患病。