We describe a term infant with facioauriculo-vertebral "dysplasia" (Goldenhar sequence), hypertelorism, and mosaic trisomy 22: peripheral blood, 46, XY/47, XY, + 22 (72%/28%); skin fibroblasts, 47, XY, + 22 (100%). This is the second report of Goldenhar anomaly with epibulbar dermoids in a liveborn infant with aneuploidy. Hypertelorism is rare in Goldenhar sequence, but typical of trisomy 22. We recommend chromosome analysis in all patients with Goldenhar sequence. Those with hypertelorism may be more likely to have aneuploidy as well.
No takes yet. Share an insight, caveat, or question.
Pridjian et al. (1995) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: