Table 4.

SOST-Related Sclerosing Bone Dysplasias: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Skeletal
  • Radiographs of affected areas
  • DXA scan
  • Assessment of necessity for surgical correction of syndactyly when present
Hearing Formal audiologic eval
Neurologic
  • Neurologic eval for consequences of cranial nerve entrapment
  • Assessment for manifestations of ↑ intracranial pressure
Ophthalmologic Ophthalmologic eval for evidence of ↑ intracranial pressure &/or proptosis
Dental Dental &/or orthodontic eval for malalignment & malocclusion in children
Genetic counseling By genetics professionals 1To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of SOST-related sclerosing bone dysplasias to facilitate medical & personal decision making

DXA = dual-energy x-ray absorptiometry; MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: SOST-Related Sclerosing Bone Dysplasias

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