Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type (PLSD-T) is a rare genetic disorder characterized by significant skeletal abnormalities. This condition is part of a group of disorders known as skeletal dysplasias, which affect the growth and development of bones and cartilage. PLSD-T is particularly noted for causing severe platyspondyly (flattening of the vertebral bodies), short limbs, and other skeletal anomalies that are usually lethal in the neonatal period.

Etiology

PLSD-T is caused by mutations in the COL2A1 gene, which provides instructions for making a protein that is essential for the development and maintenance of the skeleton and other connective tissues. This protein, type II collagen, is a major component of cartilage. Mutations in the COL2A1 gene disrupt the normal formation of type II collagen, leading to the skeletal abnormalities seen in PLSD-T.

Clinical Features

Infants with PLSD-T typically present with:

• Severe platyspondyly (flattened vertebrae)
• Shortened limbs, particularly the femurs
• Narrow chest with short ribs
• Hip anomalies, including dislocation
• Underdeveloped lungs due to a narrow thoracic cage, leading to respiratory difficulties

These features are detectable through ultrasound during pregnancy, and the diagnosis can be confirmed postnatally through genetic testing for mutations in the COL2A1 gene.

Diagnosis

Diagnosis of PLSD-T involves a combination of clinical evaluation, imaging studies, and genetic testing. Prenatal ultrasound can reveal characteristic skeletal abnormalities suggestive of the condition. After birth, radiography (X-rays) is used to detail the specific skeletal malformations. Genetic testing for mutations in the COL2A1 gene confirms the diagnosis.

Management and Prognosis

Management of PLSD-T is supportive, focusing on the treatment of symptoms and complications. Due to the severe skeletal abnormalities and respiratory insufficiency caused by underdeveloped lungs, the prognosis for infants with PLSD-T is poor, and most affected infants do not survive beyond the neonatal period. In cases where the condition is less severe, management may include orthopedic interventions to address skeletal deformities and supportive care for respiratory function.

Research Directions

Research on PLSD-T and other skeletal dysplasias focuses on understanding the genetic causes of these conditions and developing potential therapies. Advances in gene therapy and regenerative medicine offer hope for future treatments that could address the underlying genetic mutations and improve outcomes for affected individuals.

See Also

• Skeletal dysplasia
• COL2A1
• Genetic disorder
• Gene therapy

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