Madelung's deformity
Encyclopedia
Madelung's deformity is usually characterized by malformed wrist
s and wrist bones and short stature
and is often associated with Léri-Weill dyschondrosteosis
. It has only been recognized within the past hundred years.
Along with Léri-Weill dyschondrosteosis
, it is associated with a mutation on the pseudoautosomal region
.
or dislocation of the ulna
's lower end, due to malformation of the bones. Sometimes, minor abnormalities of other bone structures, often caused by disease or injury, such as a fracture of the lower end of the radius
with upward displacement of the lower fragment. The deformity varies in degree from a slight protrusion of the lower end of the ulna, to complete dislocation of the inferior radio-ulnar joint with marked radial deviation of the hand. Severe deformities are associated with congenital absence or hypoplasia
of the radius.
in order to gain correction. Madelung deformity can cause limited rotation of the wrist, chronic pain or pain after any activity involving the wrist, and limited strength.
Wrist
In human anatomy, the wrist is variously defined as 1) the carpus or carpal bones, the complex of eight bones forming the proximal skeletal segment of the hand;...
s and wrist bones and short stature
Short stature
Short stature refers to a height of a human being which is below expected. Shortness is a vague term without a precise definition and with significant relativity to context...
and is often associated with Léri-Weill dyschondrosteosis
Léri-Weill dyschondrosteosis
Léri-Weill dyschondrosteosis or LWD is a rare genetic disorder which results in dwarfism with short forearms and legs and a particular deformity of the forearms .-Causes:...
. It has only been recognized within the past hundred years.
Genetics
It occurs due to a genetically recessive gene called the SHOX gene.Along with Léri-Weill dyschondrosteosis
Léri-Weill dyschondrosteosis
Léri-Weill dyschondrosteosis or LWD is a rare genetic disorder which results in dwarfism with short forearms and legs and a particular deformity of the forearms .-Causes:...
, it is associated with a mutation on the pseudoautosomal region
Pseudoautosomal region
The pseudoautosomal regions, PAR1 and PAR2 are homologous sequences of nucleotides on the X and Y chromosomes.The pseudoautosomal regions get their name because any genes located within them are inherited just like any autosomal genes...
.
Pathogenesis
Madelung deformity of the wrist is produced by a growth disturbance in the inferior volar part of the epiphysial growth plate in the distal radius that results in the radius growing curved in the volar direction producing 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 etiology and is associated with mesomelic dwarfism and a mutation on the X chromosome. The deformity can be treated surgically by addressing the deforming bony and ligamentous lesions, correcting the abnormal position of the radial articular surface, and equalizing the longitudinal levels of the distal radius and ulnaPresentation
It is a congenital subluxationSubluxation
A subluxation may have different meanings, depending on the medical specialty involved. It implies the presence of an incomplete or partial dislocation of a joint or organ. The World Health Organization defines both the medical subluxation and the chiropractic subluxation...
or dislocation of the ulna
Ulna
The ulna is one of the two long bones in the forearm, the other being the radius. It is prismatic in form and runs parallel to the radius, which is shorter and smaller. In anatomical position The ulna is one of the two long bones in the forearm, the other being the radius. It is prismatic in form...
's lower end, due to malformation of the bones. Sometimes, minor abnormalities of other bone structures, often caused by disease or injury, such as a fracture of the lower end of the radius
Radius (bone)
The radius 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, which exceeds it in length and size. It is a long bone, prism-shaped and slightly curved longitudinally...
with upward displacement of the lower fragment. The deformity varies in degree from a slight protrusion of the lower end of the ulna, to complete dislocation of the inferior radio-ulnar joint with marked radial deviation of the hand. Severe deformities are associated with congenital absence or hypoplasia
Hypoplasia
Hypoplasia is underdevelopment or incomplete development of a tissue or organ. Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells. Hypoplasia is similar to aplasia, but less severe. It is technically not the opposite of hyperplasia...
of the radius.
Treatment
The operation consists of excision of the lower end of the ulna; in severe cases of marked radial deviation, it may also be necessary to fuse the radius to the carpusCarpus
In tetrapods, the carpus is the sole cluster of bones in the wrist between the radius and ulna and the metacarpus. The bones of the carpus do not belong to individual fingers , whereas those of the metacarpus do. The corresponding part of the foot is the tarsus...
in order to gain correction. Madelung deformity can cause limited rotation of the wrist, chronic pain or pain after any activity involving the wrist, and limited strength.