Leri Pleonosteosis, also known as Leri Weill dyschondrosteosis, is a rare genetic disorder that affects bone growth and development. It was first described by French physicians Pierre Leri and Maurice Weill in 1929. The condition primarily affects the bones of the arms and legs, leading to short stature and various skeletal abnormalities.
The discovery of Leri Pleonosteosis:
In their initial study, Leri and Weill examined several patients from different families who exhibited similar physical characteristics. They observed that these individuals had short forearms and lower legs, a condition known as mesomelic shortening. Additionally, they noticed that the affected individuals had limited range of motion in their joints, particularly the wrists and ankles.
Genetic basis and inheritance:
Leri Pleonosteosis is caused by mutations in the SHOX gene, which is located on the X and Y chromosomes. This gene plays a crucial role in bone development and growth. The condition follows an autosomal dominant pattern of inheritance, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.
Clinical features:
Individuals with Leri Pleonosteosis typically have short stature, with the arms and legs being disproportionately shorter than the trunk. The condition primarily affects the bones of the forearms and lower legs, leading to characteristic abnormalities such as bowing of the radius and ulna bones in the arms, and tibia and fibula bones in the legs.
Other common features of Leri Pleonosteosis include:
Diagnosis and management:
Diagnosing Leri Pleonosteosis involves a thorough clinical evaluation, including a detailed medical history and physical examination. X-rays and other imaging studies can help identify the characteristic skeletal abnormalities associated with the condition. Genetic testing can confirm the presence of mutations in the SHOX gene.
While there is no cure for Leri Pleonosteosis, management focuses on addressing the specific symptoms and complications. This may involve physical therapy to improve joint mobility and strength, orthopedic interventions to correct skeletal deformities, and regular monitoring of growth and development.
Prognosis:
The long-term outlook for individuals with Leri Pleonosteosis varies depending on the severity of the condition and the specific complications present. With appropriate management and support, most individuals can lead fulfilling lives and achieve normal or near-normal height. However, it is important to note that the condition is chronic and may require ongoing medical care.
Conclusion:
Leri Pleonosteosis is a rare genetic disorder characterized by short stature and skeletal abnormalities, primarily affecting the bones of the arms and legs. It was first described by Pierre Leri and Maurice Weill in 1929. The condition is caused by mutations in the SHOX gene and follows an autosomal dominant pattern of inheritance. While there is no cure, management focuses on addressing symptoms and complications to improve quality of life. With appropriate care, individuals with Leri Pleonosteosis can lead fulfilling lives.