Platyspondylic lethal skeletal dysplasia, Torrance type

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type (PLSD-T) is a rare genetic disorder that affects the development of bones, particularly those in the spine, pelvis, and limbs. This condition is part of a group of disorders known as skeletal dysplasias, which are characterized by abnormalities in the size and shape of the spine and limbs. PLSD-T is notable for causing significant skeletal abnormalities that are usually lethal in the prenatal or early neonatal period.

Causes

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 cartilage that forms the skeleton. This protein is also involved in the development of the vitreous humor of the eye. Mutations in the COL2A1 gene disrupt the normal formation of collagen, leading to the skeletal abnormalities seen in PLSD-T.

Symptoms

The hallmark features of PLSD-T include platyspondyly (flattening of the vertebral bodies), shortening of the long bones in the limbs, and abnormalities in the pelvis. These skeletal abnormalities can lead to a narrow chest, which can cause respiratory problems. Other features may include underdeveloped lungs, a small jaw, and a cleft palate.

Diagnosis

Diagnosis of PLSD-T is typically made through prenatal ultrasound, where the characteristic skeletal abnormalities can be detected. After birth, diagnosis can be confirmed through physical examination and imaging studies, such as X-rays, which can reveal the extent of the skeletal abnormalities. Genetic testing for mutations in the COL2A1 gene can confirm the diagnosis.

Treatment

There is no cure for PLSD-T, and treatment focuses on managing symptoms and supporting the child and family. This may include interventions to assist with breathing and feeding difficulties, as well as orthopedic support to manage skeletal abnormalities. Genetic counseling may be offered to families to discuss the condition and its inheritance pattern.

Prognosis

The prognosis for individuals with PLSD-T is generally poor, as the condition is typically lethal in the prenatal or early neonatal period due to respiratory failure from underdeveloped lungs and a narrow chest. In some cases, infants may survive for a short period with intensive medical support.

Epidemiology

PLSD-T is extremely rare, with only a few cases reported in the medical literature. It affects males and females equally and has been reported in various ethnic groups.

See Also

• Skeletal dysplasia
• COL2A1
• Genetic disorder

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