Table 7.

Recommended Surveillance for Individuals with Spondylometaphyseal Dysplasia, Corner Fracture Type

System/ConcernEvaluationFrequency
Musculoskeletal Eval by orthopedic surgeon & physiatrist depending on local practicesAnnually for scoliosis, other skeletal manifestations, mobility issues, & chronic joint pain
Glaucoma Eval of intraocular pressure 1Annual eval in those w/FN1-SMDCF
Hypertension Eval of blood pressure 1Annual eval in those w/FN1-SMDCF
Psychosocial issues Screening for psychosocial issuesAnnually
Possible hearing loss Routine eval for hearing lossRecommended in those w/a COL2A1 pathogenic variant 2 (not reported to date in SMDCF)
Possible respiratory complications Routine lung capacity assessment & respiratory health statusRecommended in those w/a COL2A1 pathogenic variant 2
1.

Recommendations are based on a single individual reported with this feature.

2.

Recommendations based on the best practice guidelines regarding diagnosis and management of patients with type II collagen disorders [Savarirayan et al 2019].

From: Spondylometaphyseal Dysplasia, Corner Fracture Type

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