Table 6.

Recommended Surveillance for Individuals with Chondrodysplasia Punctata 2, X-Linked

System/ConcernEvaluationFrequency
Musculoskeletal Orthopedic evaluation
  • Frequency per orthopedist to monitor kyphoscoliosis or joint problems & assess linear growth & any leg length discrepancy
  • Scoliosis can progress rapidly.
Integument Dermatology evaluationFrequency per dermatologist
Eyes Ophthalmology evaluationFrequency per ophthalmologist
Hearing Audiology evaluationAs clinically indicated
Renal Renal ultrasoundFrequency per nephrologist to monitor hydronephrosis if present
Miscellaneous/
Other 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.Each visit

From: Chondrodysplasia Punctata 2, X-Linked

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