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How is Goldenhar syndrome diagnosed?

Stuart A. Linder, MD
Plastic Surgery

Goldenhar syndrome is diagnosed both clinically and by radiographic tests. The physical signs include: inadequate development of the mandible, ear, nose, palate, and mid-face. This is also similar to Hemifacial Microsomia. However, with this syndrome there is often poor development of internal organs (heart, kidneys, and lungs). Ultrasounds, CT scans, and MRIs may be used.

Prenatal ultrasounds are sometimes used to detect early signs of Goldenhar syndrome. At birth, a physical examination, x-rays, computer tomography scan known as a CT scan, as well as, reviewing the family medical history can help doctors diagnose Goldenhar syndrome. Your doctor may also consult with or refer you to a craniofacial specialist for further testing and diagnosis.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.