RADIATION METHODS FOR DIAGNOSING APERT SYNDROME
Abstract
Apert syndrome is a rare genetic disorder that combines craniostenosis (early fusion of the skull bones) and syndactyly (fusion of the fingers). Currently, it is diagnosed in utero using ultrasound and confirmed using genetic analysis (FGFR2 mutation). There is currently no specific treatment for Apert syndrome, but palliative and symptomatic measures can significantly alleviate the patient’s condition and improve his quality of life. A frequently performed palliative surgery for Apert syndrome is to separate fused fingers and toes. An important role before such surgical intervention is played by radiography, which also makes it possible to confirm multiple anomalies of the hands and feet.
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