ArticleSkeletal radiology2026
A case report of pediatric Gardner syndrome and literature review.
Article in Skeletal radiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
This case report discusses the diagnosis and treatment of a 14-year-8-month-old male patient genetically diagnosed with Gardner syndrome (GS), systematically reviewing the disease's epidemiology, clinical manifestations, imaging advances, and management strategies. The patient presented with a post-influenza A chest wall mass and had prior resections of abdominal/scalp masses. Colonoscopy revealed > 20 adenomatous polyps. Imaging demonstrated multiple craniofacial osteomas and epidermoid cysts. Genetic testing identified a pathogenic APC gene mutation (NM_000038.6:c.4669_4670del (p.Ile1557*) heterozygous variant). GS, a familial adenomatous polyposis (FAP) subtype, has an estimated pediatric incidence of 1/8000-1/14,000. Its classic triad comprises colorectal polyps, osteomas, and soft tissue tumors. Recent studies indicate earlier malignant transformation of duodenal polyps in children versus adults, with desmoid tumor incidence reaching 10-20%. In imaging, low-dose CT, panoramic radiography, and contrast-enhanced MRI can improve early detection of bone lesions and soft tissue tumors. Genetic testing (APC/MUTYH) is the pediatric screening gold standard. Optimized chemoprevention (sulindac/celecoxib) and endoscopic monitoring have significantly improved prognoses. This case highlights the urgency of multidisciplinary management and genetic counseling for pediatric GS.
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