Table 6.

SOST-Related Sclerosing Bone Dysplasias: Recommended Surveillance

System/ConcernEvaluationFrequency 1
Bone mass DXA scan to assess bone mineral density 2
  • Intermittently until age 18 yrs
  • Every 5 yrs in adults
Biochemical markers of bone turnover: 3
  • Serum P1NP, alkaline phosphatase, & osteocalcin
  • Urine NTX & serum CTX
Hearing Audiologic assessment
  • Annually in childhood
  • As needed in adults
Neurologic Exam for evidence of cranial nerve entrapment & ↑ intracranial pressure
  • Every 6 mos until age 18 yrs
  • Annually in adults
Ophthalmologic Ophthalmologic exam to assess for proptosis, intraocular pressure, & eval of optic nerve papillaAnnually
Teeth Dental & orthodontic eval of tooth malalignment & malocclusionAnnually until age 18 yrs
Routine dental screeningAnnually in adults

CTX = type I collagen cross-linked C-terminal telopeptide; NTX = type I collagen cross-linked N-terminal telopeptide; P1NP = procollagen type 1 amino terminal propeptide

1.

As no published guidelines are available, all suggested intervals are at the discretion of the treating physician.

2.

Frequent measurement of bone mineral density has little clinical consequence in individuals with SOST-related sclerosing bone dysplasias.

3.

Measurement of bone markers can be helpful to evaluate effect of treatment with glucocorticoids. During childhood bone markers are difficult to interpret in individuals with SOST-related sclerosing bone dysplasias. In adulthood they may help detect disease stabilization.

From: SOST-Related Sclerosing Bone Dysplasias

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