Diastrophic Dysplasia Treatment & Management

Updated: Apr 30, 2018
  • Author: Shital Parikh, MD; Chief Editor: Harris Gellman, MD  more...
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Treatment

Medical Therapy

Nutritional counseling may be appropriate. As a result of progressive contractures, spine deformities, and joint involvement, patients are relatively inactive. Many patients have difficulty in ambulation, and some are wheelchair-bound. Obesity can be an issue in patients with decreased activity levels, and dietary therapy should be initiated early in life.

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Surgical Therapy

In a large survey of patients with chondrodysplasias, the highest percentage of patients treated surgically were those with diastrophic dysplasia (87.5%). As a part of the same survey, 88.8% of patients judged the outcome after surgery to be an improvement. Various operations may be performed for patients with diastrophic dysplasia. [18, 37, 38]

Palatoplasty may be required during the initial years of life.

A lateral radiograph should be obtained during the first 2 years of life, and if cervical kyphosis is present, the patient should be monitored clinically and radiographically every 6 months. If the kyphosis progresses with no neurologic deficit, a Milwaukee brace may be used on a full-time basis.

If the curve progresses despite bracing or if neurologic deficit occurs, posterior fusion should be performed. Care should be taken during exposure because of bifid lamina, and instrumentation usually is not technically possible. Immobilization with a halo and vest is required for 2-4 months. If anterior compression is evident on magnetic resonance imaging (MRI), corpectomy and strut grafts may be indicated.

The results of brace treatment for scoliosis in diastrophic dysplasia have been poor, and bracing is not recommended for progressive curves or curves larger than 45°. Early surgical intervention has been proposed. Posterior fusion is the mainstay of treatment. For young patients or those with associated kyphosis of more than 50°, anterior fusion may be added. [39]

Hip flexion contractures and knee flexion contractures should be assessed together. If they are significant (>40°), release may be considered if the potential for gaining motion is good. If epiphyseal flattening is present, releases should be avoided because recurrences are common.

Acetabular augmentation or femoral osteotomy can be performed for the treatment of hip dysplasia. Supracondylar osteotomies may be performed for knee flexion contractures, but these frequently recur. The hip contractures should be corrected first, as these may influence the recurrence of the knee deformity. Patellar subluxation may be corrected to help improve extensor power. Degenerative changes in the hip may require hip joint arthroplasty.

The feet are rigid, and cast treatment is usually futile. A plantigrade foot is the goal of treatment. The recurrence rate for deformity of the foot treated with tenotomy, lengthening of calcaneal tendon, or posteromedial release is more than 80%. Thus, surgical release should be as extensive as needed to correct the deformity; this goal may require release of inferior tibiofibular ligament to bring the dome of talus into the mortise. Salvage procedures include talectomy, talocalcaneal decancellation, and arthrodesis in the older child.

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Consultations

Consultations should involve the following specialists:

  • Otolaryngologist - Cleft palate and laryngeal abnormalities should be identified and treated early in life
  • Geneticist - A clinical geneticist may be of help in counseling the family and may also be a valuable resource for the pediatrician seeking additional information or consultation; proper establishment of the mode of inheritance not only aids in genetic counseling but also enables the orthopedist to distinguish diastrophic dysplasia from other forms of dwarfism
  • Pulmonologist - Pulmonary function should be evaluated, and respiratory complications such as hypopnea and cyanosis should be prevented
  • Pediatrician - The American Academy of Pediatrics and the Committee on Genetics have issued guidelines to assist the pediatrician in caring for children with dwarfism and in advising their families; occasionally, the pediatrician is asked to advise pregnant women who have been informed of an antenatal diagnosis of diastrophic dysplasia
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