Table 5.

Treatment of Manifestations in Individuals with Chondrodysplasia Punctata 1, X-Linked

Manifestation/ConcernTreatment
Respiratory difficulty Treatment per ENT/pulmonologist incl nasal stents & oxygen
Severe maxillary hypoplasia or maxillary retrognathia Reconstructive surgery in older individuals as needed 1
Cervical spine instability Cervical collar or spinal fusion as needed
Cervical spine stenosis Decompression as needed
Hearing loss
  • Hearing aids
  • Pressure equalization tube placement as needed
Developmental delays
  • Adjuvant therapies incl PT, OT, & speech therapy for persons w/identified developmental delays
  • Individualized education plans for learning disorders & school performance issues
Vision issues Treatment per ophthalmologist
Cardiac anomalies Treatment per cardiologist

OT = occupational therapy; PT = physical therapy

1.

From: Chondrodysplasia Punctata 1, X-Linked

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