Multicorrection Goldenhar syndrome (facio-auriculovertebral dysplasia): a rare follow-up case of 12-yearold female

Abstract

The MSX homeobox genes cause Goldenhar
syndrome (GHS) or facio-auriculo-vertebral
dysplasia, a rare developmental defect. Its exact
etiology is still unknown. Its incidence lies between
1: 3500 and 1: 5600. In 85% of the cases, the
unilateral face is affected. Typical clinical findings in
a classic GHS include eye disorders, ear
irregularities (with or without hearing loss), facial
impairments, dental and oral ailments, cardiac
syndromes, central nervous system (CNS)
involvement, trachea and lung malformations,
kidney and gastrointestinal defects, and skeletal
alterations. This case report presents a follow-up
case of Goldenhar Syndrome in a 12-year-old
female, with no relevant family history, diagnosed
with anotia on the left side, cyanosis, and facial
asymmetry at birth. She presented with moderate
growth failure, bilateral sclerosing mastoiditis and
kyphoscoliosis. She underwent posterior scoliosis
correction posterior instrumented fusion from D1 to
D11.