Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with X-linked Spondyloepiphyseal Dysplasia Tarda

System/ConcernEvaluationComment
Skeleton Complete radiographic survey to incl scoliosis series if clinically indicatedTo assess extent of skeletal manifestations
Cervical spine
  • Flexion-extension radiographs of cervical spine
  • Flexion-extension MRI if instability & compression seen on radiographs or interpretation on radiographs is limited (e.g., in young persons w/delayed ossification in upper cervical spine)
To assess for clinically significant odontoid hypoplasia
Genetic
counseling
By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of SEDT to facilitate medical & personal decision making

MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: X-Linked Spondyloepiphyseal Dysplasia Tarda

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