Typical clinical presentation consists of a short forearm, anterior-ulnar bow of the radius and a forward subluxation of the hand on the forearm. As mentioned before, the severity of the disorder varies greatly, which also leads to a spectrum of presentation. Genetics
Leri-Weill dyschondrosteosis is a pseudoautosomal dominant disorder which occurs more frequently in females and is due to a mutation,  deletion or duplication of the SHOX gene. The SHOX gene plays a particularly important role in the growth and maturation of bones in the arms and legs. The SHOX gene is located within band Xp22.3 of the pseudoautosomal region of the X chromosome, which escapes X-inactivation. Homozygous SHOX gene mutations result in Langer mesomelic dysplasia. Pathogenesis
Madelung deformity of the wrist is caused by a growth disturbance in the inferior volar part of the epiphysial growth plate in the distal radius, resulting in a volar placed slope of the lunate facet and scaphoid facet. This produces volar translation of the hand and wrist. The ulna continues growing straight, resulting in a dorsally prominent distal ulna. It occurs predominantly in adolescent females, who present with pain, decreased range of motion, and deformity. It often has a genetic cause and is associated with mesomelic dwarfism and a mutation on the X chromosome. Attempts can be made to treat the deformity surgically by addressing the deforming bone and fibrous bands called "Vickers ligament". This is an abnormal ligament formed between the Lunate bone of the wrist and the radius and is found in 91% of cases of Madelungs deformity.
Society and culture
Legal status
In November 2021, the Committee for Medicinal Products for Human Use of the European Medicines Agency adopted a positive opinion, recommending the granting of a marketing authorization under exceptional circumstances for the medicinal product tecovirimat siga, intended for the treatment of orthopoxvirus disease (smallpox, monkeypox, cowpox, and vaccinia complications) in adults and in children who weigh at least 13 kilograms (29 lb) The applicant for this medicinal product is Siga Technologies Netherlands B.V. Tecovirimat was approved for medical use in the European Union in January 2022.In December 2021, Health Canada approved oral tecovirimat for the treatment of smallpox in people weighing at least 13 kilograms (29 lb).As of August 2022, Tpoxx is available in the US only through the Strategic National Stockpile as a Centers for Disease Control and Prevention investigational new drug. Intravenous Tpoxx has no lower weight cap and can be used in infants under the investigational new drug protocol. References
External links
"Tecovirimat". Drug Information Portal. U.S. National Library of Medicine. "Tecovirimat monohydrate". Drug Information Portal. U.S. National Library of Medicine.