Background: McCune-Albright syndrome (MAS) is extremely rare clinically. We here report a case of MAS with severe symptoms that have not been reported previously.
Case summary: A 10-year-old boy attended our outpatient clinic due to craniofacial malformations found two years ago. He underwent temporal bone computed tomography and digital radiography photography. Based on a literature review combined with the patient's medical history and imaging examination findings, he was diagnosed with multiple fibrous dysplasia of bone. As the clinical symptoms related to MAS in this patient were not obvious, he was only followed up and not given any special treatment.
Conclusion: The unique clinical manifestations in this MAS patient may be related to mutations in the GNAS gene.
Keywords: Case report; GNAS gene; Genetic testing; McCune-Albright syndrome; Multiple fibrous dysplasia of bone.
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