Respiratory Problems
Respiratory problems are the result of a poorly developed, stiff rib cage. Prolonged breathing difficulties may warrant a tracheostomy and long-term ventilatory support. This is a frequent cause of death in infancy.
Other serious but preventable causes of breathing impairity are spinal cord compression and hydrocephalus. Lung function tests and sleep studies are frequently used to diagnose breathing problems in skeletal dysplasias. Regular review by a pulmonologist is recommended.
Hydrocephalus
Hydrocephalus has been reported in metatropic dysplasia. Regular measurement of head circumference will facilitate early diagnosis. Headache, vomiting, visual disturbances, and loss of consciousness are signs of increased pressure around the brain.