Goldenhar syndrome. Discordance in monozygotic twins
Gómez García, A.; Vargas Torcal, F.; Payá Abad, E.A.
Anales Espanoles de Pediatria 20(4): 400-402
1984
ISSN/ISBN: 0302-4342 PMID: 6732066 Document Number: 231841
Child here described is a new-born male, the firstborn twin, who showed clinical-radiological manifestations compatible with an oculo-auriculo-vertebral syndrome or Goldenhar's syndrome. A comparison of chromosomes, identification of serological types and determination of antigens of histocompatibility (HLA) showed them to be similar in both twins, thus showing identity of monozygots . Of great importance in the anamnesis is a radiological study--cholecystography--which was practiced between 4th and 6th weeks of pregnancy. Differences shown and possible intervention of radiation as etiology mark the especial interest of this case.