An 8-year-old girl with congenital deafness and musculoskeletal abnormalities

Goldenhar syndrome (oculo-auriculo-vertebral spectrum), a rare condition that occurs sporadically in the majority of cases, is the result of developmental abnormalities of the first and second branchial arches. 1 This syndrome may be diagnosed antenatally by ultrasound in the early second trimester. 2 It is characterised by the association of vertebral segmentation anomalies, abnormalities of the external and middle ears and a constellation of oculo-auditory (ear anomalies are the commonest feature), musculoskeletal (features are asymmetrical in 85% of cases), gastrointestinal, cardio-respiratory, genitourinary and intracranial anomalies, occurring with variable penetrance. 3 4 Early recognition of the diagnosis is important.