Treatment for Dysplasia Epiphysealis Punctata:
1. In infancy, passive joint movements, or splints for hip dislocation or foot deformities suffice until the natural progress of the disease is apparent.
2. If the child survives but is severely affected, surgery may be needed for correction of deformity by soft-tissue release or, in later childhood, by osteotomy, but decisions to operate should be delayed until it is obviously necessary. The skin is often of poor quality and liable to infection.
3. The spine that develops scoliosis may be especially difficult to manage. An absent vertebral body resulting in severe and progressive kyphoscoliosis may require spine fusion in childhood, as may scoliosis due to unsegmented bars and there is a high incidence of pseudarthrosis.
4. If there are no bony vertebral abnormalities, a Milwaukee brace can be used to delay or diminish progressive curvature.
5. Correction of unequal limb length, which is usually due to femoral shortening, by lengthening procedures, should be considered with caution because of the liability to pseudoarthrosis.
6. In the severest cases, with cerebral defects, surgery must usually be limited to the management of hip adduction deformities by adductor release to allow easier nursing and to try to prevent dislocation.
Stippled epiphyses at birth in association with other connective tissue disturbances
Failure to achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases
Symptomatic therapy and surgery