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Léri–Weill Dyschondrosteosis
Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity). Causes It is caused by mutations in the short-stature homeobox gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes, at band Xp22.33 or Yp11.32. SHOX gene deletions have been identified as the major cause of Leri–Weill syndrome. Leri–Weill dyschondrosteosis is characterized by mesomelic short stature, with bowing of the radius more so than the ulna in the forearms and bowing of the tibia while sparing the fibula. Diagnosis Diagnosis is made following genetic blood testing. Treatment History LWD was first described in 1929 by André Léri André Léri (1875 - 8 September 1930) was a French neurologist born in Paris. He studied medicine in Paris, where he was a student of Joseph Babinski (1857–1932) and Pierre Marie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mesomelia
Mesomelia refers to conditions in which the middle parts of limbs are disproportionately short. When applied to skeletal dysplasias, mesomelic dwarfism describes generalised shortening of the forearms and lower legs. This is in contrast to rhizomelic dwarfism in which the upper portions of limbs are short such as in achondroplasia. Forms of mesomelic dwarfism currently described include: * Langer mesomelic dysplasia * Ellis–van Creveld syndrome * Robinow syndrome * Léri–Weill dyschondrosteosis Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs ( mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity). Causes It ... References Growth disorders {{congenital-malformation-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Disorders
Growth hormone therapy refers to the use of growth hormone (GH) as a prescription medication—it is one form of hormone therapy. Growth hormone is a peptide hormone secreted by the pituitary gland that stimulates growth and cell reproduction. In the past, growth hormone was extracted from human pituitary glands. Growth hormone is now produced by recombinant DNA technology and is prescribed for a variety of reasons. GH therapy has been a focus of social and ethical controversies for 50 years. This article describes the history of GH treatment and the current uses and risks arising from GH use. Other articles describe GH physiology, diseases of GH excess ( acromegaly and pituitary gigantism), deficiency, the recent phenomenon of HGH controversies, growth hormone in sports, and growth hormone for cows. Medical uses HGH deficiency in children Growth hormone deficiency is treated by replacing growth hormone. Lonapegsomatropin was approved for medical use in the United States in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jean A
Jean may refer to: People * Jean (female given name) * Jean (male given name) * Jean (surname) Fictional characters * Jean Grey, a Marvel Comics character * Jean Valjean, fictional character in novel ''Les Misérables'' and its adaptations * Jean Pierre Polnareff, a fictional character from ''JoJo's Bizarre Adventure'' Places * Jean, Nevada, USA; a town * Jean, Oregon, USA Entertainment * Jean (dog), a female collie in silent films * "Jean" (song) (1969), by Rod McKuen, also recorded by Oliver * ''Jean Seberg'' (musical), a 1983 musical by Marvin Hamlisch Other uses * JEAN (programming language) * USS ''Jean'' (ID-1308), American cargo ship c. 1918 * Sternwheeler Jean, a 1938 paddleboat of the Willamette River See also *Jehan * * Gene (other) * Jeanne (other) * Jehanne (other) * Jeans (other) * John (other) John is a common English name and surname: * John (given name) * John (surname) John may also refer to: New Testa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
André Léri
André Léri (1875 - 8 September 1930) was a French neurologist born in Paris. He studied medicine in Paris, where he was a student of Joseph Babinski (1857–1932) and Pierre Marie (1853–1940). In 1904 he obtained his doctorate with a dissertation on eye changes associated with tabes dorsalis. During World War I, Léri was in charge of diagnosing soldiers with battle-inflicted neuroses. He was the author of works in the fields of neurology, ophthalmology and psychiatry, but is largely remembered for contributions made in osteology, particularly in his research of bone disorders. He described a type of mesomelic dwarfism combined with deformed forearms, which was to become known as Léri-Weill dyschondrosteosis. With Pierre Marie, the "Marie-Léri syndrome" is named, which is a hand disorder caused by osteolysis of the articular surfaces of the fingers. Bibliography * ''Spondylose rhizomélique'', Handbuch der Neurologie. Volume 2. Berlin, 1911. * ''Die Pagetsche Knochenk ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibula
The fibula or calf bone is a leg bone on the lateral side of the tibia, to which it is connected above and below. It is the smaller of the two bones and, in proportion to its length, the most slender of all the long bones. Its upper extremity is small, placed toward the back of the head of the tibia, below the knee joint and excluded from the formation of this joint. Its lower extremity inclines a little forward, so as to be on a plane anterior to that of the upper end; it projects below the tibia and forms the lateral part of the ankle joint. Structure The bone has the following components: * Lateral malleolus * Interosseous membrane connecting the fibula to the tibia, forming a syndesmosis joint * The superior tibiofibular articulation is an arthrodial joint between the lateral condyle of the tibia and the head of the fibula. * The inferior tibiofibular articulation (tibiofibular syndesmosis) is formed by the rough, convex surface of the medial side of the lower end of the f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tibia
The tibia (; ), also known as the shinbone or shankbone, is the larger, stronger, and anterior (frontal) of the two bones in the leg below the knee in vertebrates (the other being the fibula, behind and to the outside of the tibia); it connects the knee with the ankle. The tibia is found on the medial side of the leg next to the fibula and closer to the median plane. The tibia is connected to the fibula by the interosseous membrane of leg, forming a type of fibrous joint called a syndesmosis with very little movement. The tibia is named for the flute ''tibia''. It is the second largest bone in the human body, after the femur. The leg bones are the strongest long bones as they support the rest of the body. Structure In human anatomy, the tibia is the second largest bone next to the femur. As in other vertebrates the tibia is one of two bones in the lower leg, the other being the fibula, and is a component of the knee and ankle joints. The ossification or formation of the bone ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ulna
The ulna (''pl''. ulnae or ulnas) is a long bone found in the forearm that stretches from the elbow to the smallest finger, and when in anatomical position, is found on the medial side of the forearm. That is, the ulna is on the same side of the forearm as the little finger. It runs parallel to the radius, the other long bone in the forearm. The ulna is usually slightly longer than the radius, but the radius is thicker. Therefore, the radius is considered to be the larger of the two. Structure The ulna is a long bone found in the forearm that stretches from the elbow to the smallest finger, and when in anatomical position, is found on the medial side of the forearm. It is broader close to the elbow, and narrows as it approaches the wrist. Close to the elbow, the ulna has a bony process, the olecranon process, a hook-like structure that fits into the olecranon fossa of the humerus. This prevents hyperextension and forms a hinge joint with the trochlea of the humerus. There is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Radius (bone)
The radius or radial bone is one of the two large bones of the forearm, the other being the ulna. It extends from the lateral side of the elbow to the thumb side of the wrist and runs parallel to the ulna. The ulna is usually slightly longer than the radius, but the radius is thicker. Therefore the radius is considered to be the larger of the two. It is a long bone, prism-shaped and slightly curved longitudinally. The radius is part of two joints: the elbow and the wrist. At the elbow, it joins with the capitulum of the humerus, and in a separate region, with the ulna at the radial notch. At the wrist, the radius forms a joint with the ulna bone. The corresponding bone in the lower leg is the fibula. Structure The long narrow medullary cavity is enclosed in a strong wall of compact bone. It is thickest along the interosseous border and thinnest at the extremities, same over the cup-shaped articular surface (fovea) of the head. The trabeculae of the spongy tissue are some ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Y Chromosome
The Y chromosome is one of two sex chromosomes (allosomes) in therian mammals, including humans, and many other animals. The other is the X chromosome. Y is normally the sex-determining chromosome in many species, since it is the presence or absence of Y that determines the male or female sex of offspring produced in sexual reproduction. In mammals, the Y chromosome contains the gene SRY, which triggers male development. The DNA in the human Y chromosome is composed of about 59 million base pairs, making it similar in size to chromosome 19. The Y chromosome is passed only from father to son. With a 30% difference between humans and chimpanzees, the Y chromosome is one of the fastest-evolving parts of the human genome. The human Y chromosome carries an estimated 100–200 genes, with between 45 and 73 of these being protein-coding. All single-copy Y-linked genes are hemizygous (present on only one chromosome) except in cases of aneuploidy such as XYY syndrome or XXYY syndrome. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be Heredity, inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y linkage, Y chromosome or Mitochondrial disease#Causes, mitochondrial DNA (due to t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X Chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. Discovery It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of ''Pyrrhocoris'' and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (''chroma'' in Greek means ''color''). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of object and consequently named it ''X element'', which later be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
