Platyspondylic lethal skeletal dysplasia

Platyspondylic lethal skeletal dysplasia (PLSD) is a rare genetic disorder that affects the development of bones in the body. It is characterized by short stature, short neck, short trunk, and abnormalities in the spine and other bones. The condition is usually lethal in the neonatal period.

Etiology

PLSD is caused by mutations in the COL2A1 gene, which provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the cartilage and is essential for the normal development of bones and other connective tissues. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which leads to the development of this disorder.

Clinical Features

The clinical features of PLSD include platyspondyly, which is flattening of the vertebrae, and micromelia, which is shortening of the limbs. Other features may include a narrow chest, short ribs, underdeveloped lungs, and distinctive facial features such as a prominent forehead, wide-set eyes, and a small jaw. Some affected individuals may also have heart defects.

Diagnosis

Diagnosis of PLSD is based on clinical examination, radiographic findings, and genetic testing. Radiography can reveal characteristic bone abnormalities, and genetic testing can identify mutations in the COL2A1 gene.

Management and Prognosis

There is currently no cure for PLSD. Management is supportive and focuses on treating the symptoms. The prognosis for individuals with PLSD is poor, as most affected individuals do not survive past the neonatal period due to respiratory failure.

See Also

• Skeletal dysplasia
• Collagenopathies
• Genetic disorders