platyspondylie

Platyspondylie is a rare skeletal dysplasia characterized by abnormally flattened vertebral bodies. In platyspondylie, the vertebral centra are significantly shorter in the anteroposterior diameter than normal, giving them a flattened or disc-like appearance on radiographic images. This condition affects the growth and development of the vertebrae, potentially leading to a variety of orthopedic and neurological complications.

The etiology of platyspondylie is often genetic, with several distinct subtypes identified, each associated with mutations in different genes involved in bone formation and cartilage development. Clinically, individuals with platyspondylie may present with short stature, progressive spinal deformity such as kyphosis or scoliosis, and sometimes limb abnormalities. Neurological symptoms can arise due to spinal canal stenosis, leading to compression of the spinal cord or nerve roots. These can manifest as motor and sensory deficits, pain, and in severe cases, paralysis.

Diagnosis of platyspondylie is typically made through radiographic examination, including X-rays and CT scans, which reveal the characteristic vertebral shape. Genetic testing may be employed to confirm specific subtypes and aid in genetic counseling. Management of platyspondylie is focused on addressing symptoms and preventing complications. This can involve orthopedic interventions to correct spinal deformities, physical therapy to improve strength and function, and in cases of significant neurological compromise, surgical decompression of the spinal cord. The prognosis varies depending on the specific subtype and severity of the condition.