Diastrophic Dysplasia Treatment & Management

  • Author: Shital Parikh, MD; Chief Editor: Harris Gellman, MD   more...
 
Updated: Feb 6, 2012
 

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

Various operations may be performed for patients with diastrophic dysplasia[15, 32, 33] :

  • 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 full time. 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 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.
  • 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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Follow-up

  • Patients may benefit from the information on the Web site for diastrophic dysplasia, Diastrophic Help.
  • An important resource for individuals with short stature is the Little People of America (LPA) Organization. The LPA is a national organization that addresses the social, physical, and medical needs of its constituency. It holds annual regional and national conventions. Philosophically, this organization emphasizes the positive aspects of their members' abilities and lives rather than presenting short stature as a disability.
  • The Dwarf Athletic Association of America (DAAA) is a member of the US Olympic Committee that promotes athletic participation for individuals with short stature.
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Complications

Morbidity occurs due to the following associated conditions:

  • Cleft palate
  • Respiratory insufficiency due to laryngotracheobronchomalacia
  • Progressive deformities and contractures of joints
  • Progressive hip dysplasia and dislocation
  • Severe foot deformities
  • Severe hand deformities
  • Progressive spinal deformities (scoliosis, kyphosis, lordosis)
  • Cervical kyphosis with neurologic involvement
  • Early degenerative changes in joints
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Outcome and Prognosis

Patients have a minimally (5%) increased rate of perinatal mortality due to cervical myelopathy or respiratory problems such as aspiration pneumonia and laryngotracheomalacia. Patients with severe spinal deformities are also predisposed to the development of respiratory problems. A lethal form of diastrophic dysplasia has been described that can cause death soon after birth due to cardiorespiratory insufficiency. Overall, life expectancy is not reduced, and patients are able to lead productive lives at work and with their families.

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Future and Controversies

When one discusses height in patients with short stature, the term smaller than average may be substituted for the term dwarf.

The term pseudodiastrophic dwarfism is used for a disorder that clinically, radiologically, and histologically differs from true diastrophic dysplasia, and it should not be used inadvertently.

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Contributor Information and Disclosures
Author

Shital Parikh, MD  Assistant Professor, Department of Pediatric Orthopaedic Surgery, Cincinnati Children's Hospital Medical Center

Shital Parikh, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, and Orthopaedic Research Society

Disclosure: Nothing to disclose.

Coauthor(s)

Preeti Batra, MBBS, MD  Staff Physician, Department of Radiology, VS Hospital, India

Disclosure: Nothing to disclose.

Twee T Do, MD  Clinical Faculty, Rocky Vista University College of Osteopathic Medicine; Consulting Surgeon, Pueblo Bone and Joint Clinic

Twee T Do, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Academy of Pediatrics, Colorado Medical Society, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Howard A Chansky, MD  Associate Professor, Department of Orthopedics and Sports Medicine, University of Washington Medical Center

Howard A Chansky, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Sean P Scully, MD, PhD  Professor, Department of Orthopedics, University of Miami

Sean P Scully, MD, PhD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, International Society on Thrombosis and Haemostasis, and Society of Surgical Oncology

Disclosure: Nothing to disclose.

Dinesh Patel, MD, FACS  Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital

Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Harris Gellman, MD  Consulting Surgeon, Broward Hand Center; Voluntary Clinical Professor of Orthopedic Surgery and Plastic Surgery, Departments of Orthopedic Surgery and Surgery, University of Miami, Leonard M Miller School of Medicine

Harris Gellman, MD is a member of the following medical societies: American Academy of Medical Acupuncture, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, American Society for Surgery of the Hand, and Arkansas Medical Society

Disclosure: Nothing to disclose.

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Child with diastrophic dysplasia. Note micromelic dwarfing with hitchhiker thumb, flexion contractures of the knee, and clubfeet.
Ear deformity in a patient with diastrophic dysplasia.
Characteristic abducted position of the thumb in a patient with diastrophic dysplasia.
Scoliosis in a patient with diastrophic dysplasia. The curve is a mild, nonprogressive-type curve. Note the degenerative changes associated with the scoliosis.
Lumbar lordosis in a patient with diastrophic dysplasia. Note the horizontal sacrum and mild degenerative changes in the lumbar spine.
Radiograph of the cervical spine obtained with the neck in neutral alignment shows severe kyphosis between C2 and C6 in a patient with diastrophic dysplasia.
Early progressive type of scoliosis in a patient with diastrophic dysplasia. These curves typically have short segments and are sharply curved; they may have associated dysplastic changes in the vertebrae.
The humerus in a patient with diastrophic dysplasia. Typically, all of the long bones are short and thick. Note the epiphyseal flattening and irregularity of the proximal humeral epiphysis. Metaphyseal flaring of the distal humerus is present.
Pelvis with both hips in an adult with diastrophic dysplasia. Note the dysplastic shape of the femoral head, along with characteristic degenerative changes.
Pelvis and both hips in a patient with diastrophic dysplasia. Note the short and broad neck of the femur. The appearance of the femoral epiphyses is delayed. Flattening of the epiphyses is present.
Image in a patient with diastrophic dysplasia. The acetabulum is shallow and shows a double-hump configuration on the right side. Both the femoral heads are severely dysplastic.
Image in a patient with diastrophic dysplasia. The patella is subluxed laterally, with mild hypoplasia of the lateral femoral condyle.
Image in a patient with diastrophic dysplasia. The tubular bones of the hand are short and broad. The first metacarpal is particularly shortened. The ulna is shorter, and the radius shows flaring at its distal end.
Image in a patient with diastrophic dysplasia. Oblique view of the hand shows a short first ray with marked abduction.
Image in a patient with diastrophic dysplasia. Radiograph of the hands shows abducted and short first metatarsal, along with affection of the proximal interphalangeal (PIP) joint of all fingers. Ankylosis of the fifth PIP joint is present. The middle phalanges appear extremely short.
Image in a patient with diastrophic dysplasia. The metatarsus adductus with medial twisting of metatarsals is evident. The first metatarsal is shortened. Also note the lateral subluxation of the navicular over the talus that gives the appearance of a skew foot.
Deformity of the foot in a patient with diastrophic dysplasia.
Severe equinus deformity in a patient with diastrophic dysplasia.
Image in a patient with diastrophic dysplasia. CT scan, A 3-dimensional reconstruction, shows bilateral dysplasia and dislocation of hips.
 
 
 
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