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

Autor: Prasad, K. N. Venkateshwara, Rajha, Arvind, Vegi, Pradeep Kumar
Jazyk: angličtina
Rok vydání: 2013
Předmět:
Zdroj: Case Reports in Pediatrics.
ISSN: 2090-6803
DOI: 10.1155/2013/591350
Popis: 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.
Databáze: OpenAIRE