A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome-OMIM% 164210

被引：7
|
作者：
Prasad, K. N. Venkateshwara [1 ]
Rajha, Arvind [1 ]
Vegi, Pradeep Kumar [2 ]
机构：
[1] Sri Devaraj Urs Med Coll, Dept Paediat, Kolar 563101, Karnataka, India
[2] Sri Devaraj Urs Acad Higher Educ & Res, Dept Biochem, Sci Res Lab AHS, Kolar 563101, Karnataka, India
来源：
CASE REPORTS IN PEDIATRICS | 2013年 / 2013卷
关键词：
D O I：
10.1155/2013/591350
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
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.
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页数：3
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