Pediatric Gardner Syndrome Clinical Presentation

Updated: Nov 28, 2017
  • Author: Michael Gilger, MD; Chief Editor: Carmen Cuffari, MD  more...
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Presentation

History

Adequate screening is a necessity to avoid legal action. Patients must be screened properly to prevent development of cancer once the diagnosis of Gardner syndrome is made.

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Physical Examination

Osteomas of the skull and the mandible are often present as painless bony overgrowths. These can often be detected before the colonic manifestations. Multiple osteomas may be a clue to the physician that Gardner syndrome is present.

Dental abnormalities include supernumerary teeth and odontomas and are typically diagnosed by physical examination of the mouth and teeth. However, they may only be detected on plain radiography.

Multiple epidermal cysts are often present and are another easily visible clue to the physician that colorectal disease may be present as well. They are commonly found on the face, scalp, and arms, but can occur anywhere on the skin surface. These cysts are benign but may pose a cosmetic concern for the patient.

Fibromatosis may present as an abdominal mass that is easily detected by palpation of the abdomen.

Congenital hypertrophy of the retinal pigmented epithelium is easily detectable by slit-lamp examination. It is a flat pigmented lesion on the retina. Oftentimes, they may be present bilaterally. These lesions do not cause clinical problems.

Thyroid carcinoma may present as a painful or painless mass in the thyroid, sometimes palpable on physical examination.

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