Orthopedics - Oleksa A.P. 2006

Pathophysiology of Joints
Skeletal Malformations and Congenital Anomalies
Spondyloepiphyseal Dysplasia

Spondyloepiphyseal Dysplasia congenita is an autosomal dominant dysplasia with variable phenotypic manifestations.

The clinical Variability of spondyloepiphyseal dysplasia is presumably the result of point Mutations affecting various Regions of the Gene encoding type II Collagen.

Clinically, the disease manifests as short-trunk dwarfism. The trunk is short, the chest is barrel-shaped with increased thoracic Kyphosis, pronounced lumbar lordosis, and the limbs are short with relatively normal hands and feet, which can be club-shaped. There are prominent signs of Lower Limb Axis Deviation (genu varum or genu valgus) accompanied by Muscle hypotonia. Gait in such children is impaired, and degenerative Changes in the hip joints develop quite rapidly as early manifestations of the disease (Fig. 67).

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Fig. 67. Radiograph of the hip joints in a patient with multifocal epiphyseal dysplasia showing signs of avascular Necrosis of the femoral HEAD (Bassett G.S., Scott C.I., 1990).

Myopia, degeneration, and retinal detachment present significant ophthalmological challenges for patients (Ikegawa S., Iwaya T., Taniguchi K. et al., 1993).

Type II collagen is specific to Cartilage and the vitreous body, which explains these clinical signs of the disease.

Lachman R.S. (1994) points out the possibility of Prenatal Diagnosis of this condition using sonography. Ultrasound findings In the second and third trimesters of Pregnancy include shortened long BONES OF THE extremities, a small chest size, and flat hypoplastic vertebrae.

If spondyloepiphyseal dysplasia is clinically detected in toddlers, radiography is performed to confirm the diagnosis. Radiologically, one may reveal delayed Ossification of the pubic bones and both femoral epiphyses, heterogeneity of ossification centers, pear-shaped vertebral bodies followed by flattened vertebrae, and occasionally Scoliosis.

Hypoplasia of the odontoid process can lead to instability of the cervical spine and even Spinal Cord compression. Functional radiographic tests are performed to detect atlantoaxial instability.

To rule out neurological disorders and myelopathy in these children, a neurological consultation is mandatory.

Treatment. To prevent neurological complications, children are prescribed an immobilizing collar and muscle massage, which also promotes neurological recovery as part of comprehensive care (Hirata S., Rimoin D.L., Poole A.R., 1990).

The increase in physiological spinal curvatures during a child's growth requires prolonged monitoring, as thoracic kyphosis and lumbar lordosis can progress until skeletal maturity, making it difficult to predict their severity and consequences.

The same applies to the extremities. Angular deformities of the limb segments require surgical intervention to realign their axis via corrective osteotomies, sometimes combined with simultaneous lengthening of shortened segments using the Ilizarov distraction technique (Herzenberg J.E., Paley D., 1995; Prevot J., Guichet J.M., 1995).

An arthritic, degenerated dysplastic femoral head causing hip pain frequently necessitates joint arthroplasty.

Spondyloepiphyseal dysplasia is rare, but these children must remain under regular clinical dispensary observation and receive comprehensive orthopedic treatment.