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Spondyloepiphyseal Dysplasia Treatment & Management

  • Author: Shital Parikh, MD; Chief Editor: Dennis P Grogan, MD  more...
 
Updated: Nov 02, 2015
 

Medical Care

The American Academy of Pediatrics and Committee on Genetics have issued guidelines to assist the pediatrician in caring for children with spondyloepiphyseal dysplasia (SED) and their families.

A clinical geneticist may be of help to provide counseling to the family. A geneticist may also be a valuable resource for the pediatrician seeking additional information or consultation. The proper establishment of the mode of inheritance not only aids in genetic counseling but also enables the orthopedist to distinguish achondroplastic dwarfism from other forms of dwarfism, many of which have an autosomal recessive inheritance.

The following services should be involved for the comprehensive care of the patients:

  • Ophthalmologist: Regular ophthalmologic examination is necessary in patients with SED congenita to identify pathologic retinal conditions, vitreoretinal degeneration, or severe myopia
  • Neurologist: Consultation is recommended for assessment of infantile hypotonia, generalized motor delay, or myelopathy
  • Pulmonologist: Pulmonary functions should be evaluated, and respiratory complications such as apnea, pneumonia, restrictive lung diseases, and cyanosis should be evaluated
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Surgical Care

Orthopedic and other surgical procedures are indicated in patients with SED. Although these can be performed safely in most patients, specific structural and physiologic abnormalities should be carefully considered, especially by the anesthesia team.

SED congenita

Most of the orthopedic problems encountered in patients with SED congenita are related to atlantoaxial instability and spine, hip, and knee deformities.[31]

Posterior atlantoaxial fusion is indicated for patients with signs and symptoms of atlantoaxial instability measuring 8 mm or more or myelopathy. Fusion to the occiput may be required due to the small size of the posterior ring of the atlas or the presence of a large midline synchondrosis. Halo vest immobilization is necessary postoperatively in patients with odontoid hypoplasia and extension instability.

In skeletally immature patients with scoliosis measuring 40° or less, initial treatment should be use of a brace. Bracing is often ineffective due to the small trunk size, the rigidity of the curves, and the marked amount of trunk rotation. However, Milwaukee brace treatment may be useful in delaying the fusion until the patient is older.[32] Patients with curves that progress despite brace treatment or that measure more than 50° should be considered candidates for a posterior spinal fusion. In patients aged 3-10 years, a distraction rod inserted without spinal fusion allows growth to continue for several years and minimizes the scoliosis. The spine is then fused at skeletal maturity.

The use of anterior (open or video-assisted thoracoscopic surgery) and posterior approaches improves correction in these patients, in whom rigidity is more prominent and occurs at earlier ages than in patients with idiopathic SED. Instrumentation systems designed for smaller younger patients combined with the use of sensory and neuromuscular monitoring increase the safety of surgical intervention. In adult patients, standard instrumentation may be used, since the spinal canal is not narrowed by bone dysplasia. The lordosis in these patients is not sufficient to warrant primary surgery.

Although antilordotic bracing has been used, no indication of its effectiveness has been published. Much of the lumbar lordosis is secondary to hip flexion deformities and improves upon surgical correction of hip position. Milwaukee brace with kyphosis pads was successful in preventing progression of thoracic kyphosis in one study.[32]

When the deformity progresses in spite of nonsurgical management, surgical fusion is required to prevent spinal cord compression and spastic paraplegia. Anterior and posterior fusions are recommended for rigid curves and in younger patients.

In patients with coxa vara, if the femoral neck-shaft angle measures 100° or less, the Hilgenreiner-epiphyseal angle is greater than 60°, or an inverted triangular fragment is present, Bassett recommends a valgus intertrochanteric osteotomy to prevent progressive varus deformity or discontinuity of the femoral neck. The neck-shaft angle should be corrected to at least 140° at the time of surgery to prevent recurrent deformity. Simultaneous extension with the valgus osteotomy decreases the flexion deformity of the hip and may improve lumbar lordosis. In patients with subluxation, hinge abduction, or osteoarthritis, reconstructive measures may be indicated. Open reduction with femoral and acetabular osteotomies may be performed to treat hip dislocation.

Hip arthroscopy has been used for the treatment of acute or semiacute changes in hip pain in patients with multiple epiphyseal dysplasia and SED.[33] A wide spectrum of intra-articular pathologies, such as labral tears, chondral flaps, and loose bodies, can be addressed through arthroscopy.

A varus supracondylar femoral osteotomy or a proximal tibial and fibular osteotomy can be considered for patients with symptomatic knees or severe valgus deformities. Proximal femoral valgus osteotomy for coxa vara further accentuates the distal femoral valgus. Medial hemiepiphyseal stapling of the distal femoral or the proximal tibial growth plate can be performed. Lateral patellar dislocation is relatively frequent and treatment can be conservative or surgical depending on the circumstances.[34]

Equinovarus deformities (clubfeet) may require surgical correction if they cannot be managed with physical therapy or serial casting.

SED tarda

Scoliosis in a patient with SED tarda should be managed similar to that in adolescents with idiopathic scoliosis. Bracing should be considered for curves approaching 30° in skeletally immature patients. Posterior spinal fusion may be required for curves not controlled with bracing. Similarly, atlantoaxial instability may require posterior stabilization.

Osteoarthritis of the hip is a common sequela, and valgus or valgus-extension intertrochanteric osteotomy may improve hip congruity. Osteoarthritis in adulthood may be treated using total joint arthroplasty. Custom components may be necessary due to the anatomy and length of the femur. Coxa magna may be evident, and acetabular augmentation may be useful if the acetabulum is insufficient to contain the enlarged femoral head.

Hip arthroscopy has been used for the treatment of acute or semiacute changes in hip pain in patients with multiple epiphyseal dysplasia and SED.[33] A wide spectrum of intra-articular pathologies, such as labral tears, chondral flaps, and loose bodies, can be addressed through arthroscopy.

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Consultations

Prior to any surgical intervention, consideration should be given to various structural and physiological abnormalities, especially by the anesthesia team. Odontoid hypoplasia, short and unstable neck, pectus carinatum, decreased pulmonary functions due to thoracic cage malformation, and rigid spinal deformities are some of the concerns that need to be considered during preoperative evaluation. In addition, the following consultations are recommended:

  • Ophthalmologist: Regular ophthalmologic examination is necessary in patients with SED congenita to identify pathologic retinal conditions, vitreoretinal degeneration, or severe myopia.
  • Neurologist: Consultation is recommended for assessment of infantile hypotonia, generalized motor delay, or myelopathy.
  • Otolaryngologist: Consultation is recommended for assessment of sensorineural hearing loss, recurrent otitis media, and cleft palate.
  • Geneticist: A clinical geneticist may be of help to provide counseling to the family. A geneticist also may be a valuable resource for the pediatrician seeking additional information or consultation. The proper establishment of the mode of inheritance not only aids in genetic counseling but also enables the orthopedist to distinguish achondroplastic dwarfism from other forms of dwarfism, many of which have an autosomal recessive inheritance.
  • Pulmonologist: Pulmonary functions should be evaluated, and respiratory complications such as apnea, pneumonia, restrictive lung diseases, and cyanosis should be evaluated.
  • Pediatrician: The American Academy of Pediatrics and Committee on Genetics have issued guidelines to assist the pediatrician in caring for children with SED and their families.
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Activity

Due to neck instability, persons with SED congenita should be advised to exercise caution and to avoid activities or sports that could result in trauma to the neck or head. Patients with instability with atlantodental interval (ADI) of 4 mm or more or symptomatic instability should not be allowed to participate in competitive sports.

Many low impact activities are recommended for persons with SED, including bicycling, dancing, aerobics, rowing, spinning, swimming, walking, water jogging, and water aerobics.

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Contributor Information and Disclosures
Author

Shital Parikh, MD Associate Professor, Department of Pediatric Orthopedic 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, Orthopaedic Research Society

Disclosure: Nothing to disclose.

Coauthor(s)

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

Disclosure: Nothing to disclose.

Alvin H Crawford, MD, FACS Professor Emeritus of Pediatrics and Orthopedic Surgery, University of Cincinnati College of Medicine; Director, Founding Division of Pediatric Orthopedic Surgery, Department of Orthopedic Surgery, Cincinnati Children's Hospital Medical Center

Alvin H Crawford, MD, FACS is a member of the following medical societies: Ohio State Medical Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Disclosure: Received salary from Medscape for employment. for: Medscape.

George H Thompson, MD Director of Pediatric Orthopedic Surgery, Rainbow Babies and Children’s Hospital, University Hospitals Case Medical Center, and MetroHealth Medical Center; Professor of Orthopedic Surgery and Pediatrics, Case Western Reserve University School of Medicine

George H Thompson, MD is a member of the following medical societies: American Orthopaedic Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Academy of Orthopaedic Surgeons

Disclosure: Received none from OrthoPediatrics for consulting; Received salary from Journal of Pediatric Orthopaedics for management position; Received none from SpineForm for consulting; Received none from SICOT for board membership.

Chief Editor

Dennis P Grogan, MD Clinical Professor (Retired), Department of Orthopedic Surgery, University of South Florida College of Medicine; Orthopedic Surgeon, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa

Dennis P Grogan, MD is a member of the following medical societies: American Medical Association, American Orthopaedic Association, Scoliosis Research Society, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, American Academy of Orthopaedic Surgeons, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association

Disclosure: Nothing to disclose.

Additional Contributors

Charles T Mehlman, DO, MPH Professor of Pediatrics and Pediatric Orthopedic Surgery, Division of Pediatric Orthopedic Surgery, Director, Musculoskeletal Outcomes Research, Cincinnati Children's Hospital Medical Center

Charles T Mehlman, DO, MPH is a member of the following medical societies: American Academy of Pediatrics, American Fracture Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Medical Association, American Orthopaedic Foot and Ankle Society, American Osteopathic Association, Arthroscopy Association of North America, North American Spine Society, Ohio State Medical Association

Disclosure: Nothing to disclose.

References
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Spondyloepiphyseal dysplasia. Radiograph of the pelvis depicting delayed ossification of capital femoral epiphyses, metaphyseal flaring, horizontal acetabular roofs, triangular fragment on the inferior aspect of the broad femoral neck, and coxa vara.
Spondyloepiphyseal dysplasia. Radiograph of the spine depicting increased anteroposterior diameter, platyspondyly, posterior wedging of the vertebrae, and increased lumbar lordosis.
Spondyloepiphyseal dysplasia. Radiograph of the upper cervical vertebrae depicting ununited odontoid process.
Spondyloepiphyseal dysplasia. Radiograph of the chest, depicting bell-shaped chest and decreased height of the trunk due to platyspondyly.
Spondyloepiphyseal dysplasia. Radiograph of shoulder, depicting severe epiphyseal involvement of proximal humerus, leading to premature osteoarthritis.
Clinical picture of a child with spondyloepiphyseal dysplasia. The child had a limp when she walked. The radiographs reveal Perthes-like changes. Both the hips appear to be in a similar stage of progression.
Clinical picture of a girl with spondyloepiphyseal dysplasia. The sitting height is significantly affected. The trunk is disproportionately shorter than the extremities. The radiographs reveal platyspondyly.
Table 1. Differential Diagnoses of Spondyloepiphyseal Dysplasia Congenita Versus Morquio Disease
Characteristic SED Congenita Morquio Disease
Inheritance Autosomal dominant Autosomal recessive
Molecule affected Collagen type II Mucopolysaccharides
Clinical manifestation Birth End of first year
Flared ilia Absent Present
Os pubis ossification Absent Present
Acetabular angle Small Wide
Femoral neck Varus Valgus
Hands and feet affected Minimal Severe
Eye changes Myopia, retinal tears Corneal clouding
Keratosulfaturia Absent Present
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