Duke Orthopaedics
Wheeless' Textbook of Orthopaedics

Spondyloepiphyseal Dysplasia Congenita

- See: Spondyloepiphyseal Dysplasia Tarda:

- Discussion:
     - a type of short trunk disproportionate dwarfism, in which there is involvement of the vertebra and epiphyseal centers;
     - can be transmitted as autosomal dominant trait, although most cases arise as random mutations;
     - symptoms include delayed developmental milestones, diminished endurance, and respiratory dysfunction;
     - children may appear hypotonic;
     - these patients are predisposed to premature DJD;
     - type II collagen defects are found in spondyloepiphyseal dysplasia

- Diff Dx:
     - Morquio's Syndrome:
            - x-ray manifestations of Morquio's disease include wide flaring of ilium, no delay in pubic ossification, shallow acetabula, coxa
                       valga, and severe involvement of hands and feet;
     - achondroplasia:
     - other forms of spondyloepiphyseal dysplasia:
            - chondrodysplasia punctata
            - spondyloepiphyseal dysplasia tarda

- Eyes:
      - eyes are wide set;
      - retinal detachment & severe myopia may occur in > 50% of cases;

- Hands:
      - hands and feet are relatively normal in length, in striking contrast to extreme shortnesss of proximal
              and middle segments of limbs;

- Hip and Knee:
    - coxa vara
          - almost universal in varying degrees of severity;
          - develops early and may result in discontinuity of the femoral neck.
          - valgus intertroch osteotomy is indicated for varus deformity of 100 deg or less, progressive varus, high-grade
                  epiphyseal angle, & presence of unossified triangular metaphyseal frag in femoral neck;
          - get preop arthrography to determine most congruent alignment;
    - ossification of capital femoral epiphysis is delayed & often does not appear until age 5 years;
    - combination of delayed ossification, high riding femur, and limited abduction often gives the false impression of a dislocated hip;
    - progressive subluxation can occur & may result in precocious arthritis;
    - genu valgum is usually present;

- Cervical Spine:
    - atlantoaxial instability:
           - may occur due to odontoid hypoplasia or os odontoideum;
           - may result in cervical myelopathy;

- Spine:
    - involvement of vertebrae and epiphyseal centers results in a short trunk  disproportionate dwarfism;
    - lateral radiograph may reveal small misshapen vertebral bodies with a mild thoracolumbar kyphosis;
    - progressive kyphoscoliosis may develop in late childhood;
           - treated as indicated w/ bracing or posterior instrumentation and fusion;
    - lumbar lordosis is usually secondary to hip flexion contractures;

- Feet: talipes equinovarus is common

Genetic heterogeneity in spondyloepiphyseal dysplasia congenita.       

Original Text by Clifford R. Wheeless, III, MD.

Last updated by Clifford R. Wheeless, III, MD on Sunday, June 5, 2016 3:57 pm

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