A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210
Author(s) -
K.N.V. Prasad,
Arvind Rajha,
Pradeep Kumar Vegi
Publication year - 2013
Publication title -
case reports in pediatrics
Language(s) - English
Resource type - Journals
eISSN - 2090-6803
pISSN - 2090-6811
DOI - 10.1155/2013/591350
Subject(s) - hemifacial microsomia , goldenhar syndrome , medicine , craniofacial , monozygotic twin , craniofacial abnormality , dermatology , anatomy , genetics , biology , psychiatry
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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