Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Hereditary Multiple Osteochondromas

System/ConcernEvaluationComment
Musculoskeletal
  • Detailed history of symptoms from osteochondromas
  • Physical exam to document location of osteochondromas, functional limitations, & deformity (shortness of stature, forearm bowing & shortening, knee & ankle angular deformities)
Some suggest entire spinal canal or total body non-contrast MRI as a one-time screening test to document extent & location of involvement [Roach et al 2009, Akhaddar et al 2018]. MRI is preferred to CT in those w/inherited predisposition to malignancy. In general, decisions re surgical interventions are based on pain & functional impairment. The efficacy of screening in asymptomatic persons w/HMO has not been demonstrated & guidelines are not established. 1
Genetic counseling By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of HMO to facilitate medical & personal decision making

HMO = hereditary multiple osteochondromas; MOI = mode of inheritance

1.

Although spinal osteochrondromas are common in HMO and can cause neurologic impairment, intervention is reserved for symptomatic cases and in almost all cases there was complete recovery [Roach et al 2009, Akhaddar et al 2018, Jackson et al 2019].

2.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: Hereditary Multiple Osteochondromas

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