Apert Syndrome
Alternate Names : Acrocephalosyndactyly
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Apert Syndrome Diagnosis & Tests
A skull X-ray which demonstrates premature closure and a clinical exam can confirm the diagnosis of craniosynostosis (premature fusion of skull sutures). Hand or foot X-rays are also very important to determine the extent of bone problems. A genetic test for mutations in the fibroblast growth factor receptor 2 gene can confirm the diagnosis of Apert syndrome. Hearing tests should also always be given.
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