Ontology highlight
ABSTRACT:
SUBMITTER: Prasad KN
PROVIDER: S-EPMC3760303 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Prasad K N Venkateshwara KN Rajha Arvind A Vegi Pradeep Kumar PK
Case reports in pediatrics 20130819
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 dysplasi ...[more]