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How is HFM diagnosed?
HFM is typically diagnosed after a comprehensive medical history and physical examination by a geneticist. There is not a blood test to diagnose HFM. Because the spectrum of severity is so wide, the diagnosis should come from an experienced geneticist skilled in diagnosing craniofacial anomalies. CT scans and x-rays of the face may also be ordered for accurate diagnosis.
Diagnostic tests that may be performed to confirm the diagnosis of hemifacial microsomia include:
x-rays of the head - a diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues and bones of the head onto film.
computed tomography scan (Also called a CT or CAT scan.) of the head - a diagnostic imaging procedure that uses a combination of x-rays and computer technology to produce cross-sectional images (often called slices), both horizontally and vertically, of the head. A CT scan shows detailed images of any part of the body, including the bones, muscles, fat, and organs. CT scans are more detailed than general x-rays.
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