Lóri

Léri is a French surname. In medical literature, the name is most often encountered in connection with the eponym Léri-Weill dyschondrosteosis, a hereditary skeletal dysplasia caused by haploinsufficiency of the SHOX gene. The condition is usually inherited in an autosomal dominant pattern with variable expression and can arise from deletions or mutations affecting SHOX or its regulatory regions.

Clinically, Léri-Weill dyschondrosteosis presents with disproportionate short stature and mesomelic shortening of the limbs, along with Madelung deformity of the distal forearm. Some individuals may have mild limb shortening and other skeletal features, such as scoliosis or wrist deformities. Diagnosis is based on a combination of clinical examination, radiographic findings, and genetic testing to identify SHOX alterations.

Management is multidisciplinary and individualized. Orthopedic assessment and intervention may be needed for forearm and limb deformities, while physical therapy helps maintain function. Growth monitoring is important, and growth-promoting therapy with growth hormone has been used in some cases to improve height, though it is not a cure and requires careful consideration of benefits and risks. Regular follow-up is recommended to monitor skeletal health, growth, and overall development.

Beyond this medical eponym, the surname Léri is of French origin and is associated with historical medical authors who contributed to pediatric skeletal disorders in the early 20th century, shaping the terminology used in this field.