At birth, those with diastrophic dwarfism tend to be shorter than most newborns. Diagnosis is confirmed using genetic testing, in which a sample of the child’s saliva is used to identify their DNA and confirm mutations to the SLC26A2 gene.
Initial consultations will often include x-rays, MRIs, CT scans, and sometimes an EOS image (EOS is a full-body, three-dimensional scan). These tests help identify the specific skeletal anomalies and joint problems.
At the Paley Institute we address the upper and lower limb deformities associated with diastrophic dwarfism. In the lower limb, the initial treatment is usually for the club feet which often do not respond to Ponseti treatment and require open surgical releases. Recurrent foot deformity may require osteotomy. The hips may require hip surgery including surgical dislocation, trochanteric transfer and pelvic and femoral osteotomies . At the knee, a modification of the Paley SUPERknee procedure is used. Osteotomies for alignment of the femur and tibia are performed and soft tissue releases or joint distraction are used to correct the contractures of the knee joint. Physical therapy is used as part of the recovery for these surgeries. Limb lengthening is not a good consideration for short stature treatment due to the propensity for joint degeneration.
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