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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.