The complete or partial absence of the pectoralis muscle is the malformation that defines Poland Syndrome. It can be treated by inserting a custom implant designed by CAD (computer aided design). A 3D reconstruction of the patient's chest is performed from a medical scanner to design a virtual implant perfectly adapted to the anatomy of each one. The implant is made of medical silicone unbreakable rubber. This treatment is purely cosmetic and does not make up for the patient's imbalanced upper body strength.

The Poland syndrome malformations being morphological, correction by custom implant is a first-line treatment. This technique allows a wide variety of patients to be treated with good outcomes. Poland Syndrome can be associated with bones, subcutaneous and mammary atrophy: if the first, as for pectus excavatum, is successfully corrected by a custom implant, the others can require surgical intervention such as lipofilling or silicone breast implant, in a second operation.

Evaluations by certain specialists should be performed following the initial diagnosis of Duane-radial ray syndrome. These evaluations will be used to determine the extent of the disease as well as the needs of the individual.

- Eyes - Complete eye exam by an ophthalmologist especially focusing on the extraocular movements of the eye and the structural eye defects

- Heart - evaluation by a cardiologist along with an echocardiogram and ECG

- Kidneys - Laboratory tests to check kidney function and a renal ultrasound

- Hearing

- Endocrine - evaluation for growth hormone deficit if growth retardation present

- Blood - CBC to check for thrombocytopenia and leukocytosis

- Clinical genetics consultation

The surgery takes place under general anaesthesia and lasts less than 1 hour. The surgeon prepares the locus to the size of the implant after performing a 8-cm axillary incision and inserts the implant beneath the skin. The closure is made in 2 planes.

The implant will replace the pectoralis major muscle, thus enabling the thorax to be symmetrical and, in women, the breast as well. If necessary, especially in the case of women, a second operation will complement the result by the implantation of a breast implant and / or lipofilling.

Lipomodelling is progressively used in the correction of breast and chest wall deformities. In Poland syndrome, this technique appears to be a major advance that will probably revolutionize the treatment of severe cases. This is mainly due to its ability to achieve previously unachievable quality of reconstruction with minimal scaring.

MRI imaging can be used to detect whether the abducens nerve is present.

A cubitus varus deformity is more cosmetic than limiting of any function, however internal rotation of the radius over the ulna may be limited due to the overgrowth of the humerus. This may be noticeable during an activity such as using a computer mouse.

Oval, elliptical, or serpentine radiolucency usually greater than 1 cm surrounded by a heavily reactive sclerosis, granulation tissue, and a nidus often less than 1 cm. The margins often appear scalloped on radiograph. Brodie's abscess is best visualized using Computed tomography (CT) scan.

Associated atrophy of soft tissue near the site of infection and shortening of the affected bone. Osteoblastoma may be a classic sign for Brodie's abscess.

Diagnosis may be suspected on the basis of the clinical and radiologic findings, and can supported by molecular analysis of the SHOX, SHOXY and PAR1 genes.

May also be suspected by ultrasound during the second trimester of gestation.

Operations that attempt to restore a blood supply to the lunate may be performed.

Depending on the stage the disease is in when it is discovered, varying treatments are applied.

If X-rays show a mostly intact lunate (not having lost a great deal of size, and not having been compressed into a triangular shape), but an MRI shows a lack of blood flow to the bone, then revascularization is normally attempted. Revascularization techniques, usually involving a bone graft taken elsewhere from the body — often held in place by an external fixator for a period of weeks or months — have been successful at stages as late as 3B, although their use at later stages (like most treatments for Kienböck's) is controversial.

One conservative treatment option would be using an Ultrasound Bone Stimulator, which uses low-intensity pulsed ultrasound to increase vascular endothelial growth factor (VEG-F) and increase blood flow to the bone.

Some Kienböck's patients present with an abnormally large difference in length between the radius and the ulna, termed "ulnar variance", which is hypothesized to cause undue pressure on the lunate, contributing to its avascularity. In cases with such a difference, "radial shortening" is commonly performed. In this procedure, the radius (the lateral long bone) is shortened by a given length, usually between 2 and 5 mm, to relieve the pressure on the dying lunate. A titanium plate is inserted to hold the newly shortened bone together.

During Stage 3, the lunate has begun to break apart due to the pressure of the surrounding bones. This causes sharp fragments of bone to float between the joints, causing excruciating pain. At this point, the lunate is ready for removal. The most frequently performed surgery is the "Proximal Row Carpectomy", where the lunate, scaphoid and triquetrum are extracted. This greatly limits the range of motion of the wrist, but pain relief can be achieved for longer than after the other surgeries.

Another surgical option for this stage is a titanium, silicon or pyrocarbon implant that takes place of the lunate, though doctors shy from this due to a tendency of the implant to smooth the edges of the surrounding bones, thus causing painful pinched nerves when the bones slip out of place.

After the lunate is removed, another procedure, "ulnar shortening" can be performed. This relieves pressure on the newly formed wrist joint of the pisiform, hamate and capitate. Depending on the surgeon, the procedure may be performed the same way as the "radial shortening" where a small section is removed, or the entire top of the ulna may be excised.

At Stage 4, the lunate has completely disintegrated and the other bones in the wrist have radiated downward to fill in the void. The hand now has a deformed, crippled appearance. The only procedure that can be done is the "total wrist fusion", where a plate is inserted on the top of the wrist from the radius to the carpals, effectively freezing all flexion and movement in the wrist. Rotation is still possible as it is controlled by the radius and ulna.

This is currently the last and most complete surgical option for Kienböck's sufferers.

Most of the treatments described here are not mutually exclusive — meaning that a single patient may receive many of them in his quest to relieve pain. For instance, some patients have had casting, bone graft, radial shortening, proximal row carpectomy, and wrist fusion, all on the same hand.

Diagnosis is mostly clinical and radiological. Technetium skeletal scintigrams are occasionally used to determine number of exostoses.

As the symptoms become prominent, the child will visit their pediatrician or family doctor to confirm whether or not the child has Panner Disease. When the child visits the doctor, the doctor will seek information about the child’s age, sports participation, activity level, and what the child’s dominant arm is. The affected elbow will be compared to the healthy elbow and any differences between the two will be noted. The location of where the pain is in the elbow, and the child’s range of motion and extension will also be determined to make an accurate diagnosis. To check the child’s range of motion and extension limitation the child will be asked to move the arm of the affected elbow in various directions. The movement of the arm in various directions will allow the doctor to conclude how good the child is able to move the arm and the doctor will be able to determine if there is pain caused by the various directions of movement.

To confirm the diagnosis, an x-ray or MRI scan will be done. The radiograph will enable the doctor to visualize irregularities and see the shape of the capitellum and also visualize the growth plate. In Panner Disease, the capitellum may appear flat and the bone growth plate will look irregular and fragmented. The areas where bone breakdown has occurred can also be visualized on the radiograph. When the patient undergoes a MRI scan any irregularities of the capitellum will able to be visualized, and the bone will be able to be visualized in more detail to determine the extent of swelling, if any. In the MRI results for Panner disease, there will be a decreased signal intensity of the capitellum on a T1 series and increased signal intensity on a T2 series.

Clinical:

Patients often present with a history of fever of unknown origin, muscular weakness, poor development, abnormal dentition, normal serum calcium, phosphorus, and alkaline phosphatase levels. Associated clinical findings also include glaucoma, photosensitivity, heart block, foot deformities, and chronic psoriasiform skin lesions.

Radiological:

Classic radiologic findings were first described by Edward B. Singleton and David Merten in 1973.

Typical radiographic appearances include skeletal demineralization, expanded shafts of the metacarpals and phalanges with widenend medullary cavities, cardiomegaly, and intramural calcification of the proximal aorta with occasional extension into the aortic or mitral valves.

Other commonly seen radiographic findings include shallow acetabular fossa, subluxation of the femoral head, coxa valga, hypoplastic radial epiphysis, soft tissue calcifications between the radius and ulna, constriction of the proximal radial shaft, acro-osteolysis, and equinovarus foot deformities.

Osteoarthritis between the radius bone and the carpals is indicated by a "radiocarpal joint space" of less than 2mm.

X-rays can be very helpful in diagnosing and differentiating between SNAC and SLAC wrists. On the other hand, X-rays are not always sufficient to distinguish between different stages. It is important to note that both hands need to be compared. Therefore, two X-rays are needed: one from the left and one from the right hand. When the X-ray is inconclusive, wrist arthroscopy can be performed.

SLAC

Because the scapholunate ligament is ruptured, the scaphoid and lunate are not longer connected. This results in a larger space between the two bones, also known as the Terry Thomas sign. A space larger than 3 mm is suspicious and a space larger than 5 mm is a proven SLAC pathology. Scaphoid instability due to the ligament rupture can be stactic or dynamic. When the X-ray is diagnostic and there is a convincing Terry Thomas sign it is a static scaphoid instability. When the scaphoid is made unstable by either the patient or by manipulation by the examining physician it is a dynamic instability.

In order to diagnose a SLAC wrist you need a posterior anterior (PA) view X-ray, a lateral view X-ray and a fist view X-ray. The fist X-ray is often made if there is no convincing Terry Thomas sign. A fist X-ray of a scapholunate ligament rupture will show a descending capitate. Making a fist will give pressure at the capitate, which will descend if there is a rupture in the scapholunate ligament.

SNAC

In order to diagnose a SNAC wrist you need a PA view X-ray and a lateral view X-ray. As in SLAC, the lateral view X-ray is performed to see if there is a DISI.

Computed tomography (CT) or Magnetic Resonance Imaging (MRI) are rarely used to diagnose SNAC or SLAC wrist osteoarthritis because there is no additional value. Also, these techniques are much more expensive than a standard X-ray. CT or MRI may be used if there is a strong suspicion for another underlying pathology or disease.

Exner syndrome, also known as "serpentine fibula polycystic kidney syndrome", is a rare disorder, typified by the afflicted person having oddly formed, s-shaped fibulas as well as the development of numerous cysts in the kidneys.

In cases of a minor deviation of the wrist, treatment by splinting and stretching alone may be a sufficient approach in treating the radial deviation in RD. Besides that, the parent can support this treatment by performing passive exercises of the hand. This will help to stretch the wrist and also possibly correct any extension contracture of the elbow. Furthermore, splinting is used as a postoperative measure trying to avoid a relapse of the radial deviation.

Cubitus varus is not able to be diagnosed until after healing of the prior fracture, as the arm must be in full extension, not flexion, for the deformity to be noticed.

Generally, no treatment is required for idiopathic presentation as it is a normal anatomical variant in young children. Treatment is indicated when it persists beyond 3 and a half years old. In the case of unilateral presentation or progressive worsening of the curvature, when caused by rickets, the most important thing is to treat the constitutional disease, at the same time instructing the care-giver never to place the child on its feet. In many cases this is quite sufficient in itself to effect a cure, but matters can be hastened somewhat by applying splints. When the deformity arises in older patients, either from trauma or occupation, the only permanent treatment is surgery, but orthopaedic bracing can provide relief.

Osteofibrous dysplasia is treated with marginal resection with or without bone grafting, depending on the size of the lesion and the extent of bony involvement. However, due to the high rate of recurrence in skeletally immature individuals, this procedure is usually postponed until skeletal maturity.

Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities." It is the shortening of the fibula at birth, or the complete lack thereof. In humans, the disorder can be noted by ultrasound in utero to prepare for amputation after birth or complex bone lengthening surgery. The amputation usually takes place at six months with removal of portions of the legs to prepare them for prosthetic use. The other treatments which include repeated corrective osteotomies and leg-lengthening surgery (Ilizarov apparatus) are costly and associated with residual deformity.

Treatment for children with Blount's disease is typically braces but surgery may also be necessary, especially for teenagers. The operation consists of removing a piece of tibia, breaking the fibula and straightening out the bone; there is also a choice of elongating the legs. If not treated early enough, the condition worsens quickly.

Hemimelia comprises

- Fibular hemimelia, Congenital longitudinal deficiency of the fibula or Fibular longitudinal meromelia

- Tibial hemimelia, Congenital longitudenal deficiency of the tibia, Congenital aplasia and dysplasia of the tibia with intact fibula, Congenital longitudinal deficiency of the tibia or Tibial longitudinal meromelia

- Radial Hemimelia, Congenital longitudinal deficiency of the radius, Radial clubhand, Radial longitudinal meromelia or Radial ray agenesis

- Ulnar hemimelia, Congenital longitudinal deficiency of the ulna, Ulnar clubhand or Ulnar longitudinal meromelia

First described by David Lichtman et al. in 1977.

The purpose of this classification system is to guide treatment and to enable comparison of clinical outcomes.

1. Stage I Normal radiograph (possible lunate fracture).

2. Stage II Sclerosis of the lunate without collapse. (Portions of the lunate begin to deteriorate. This shows as a white blemish on x-rays.)

3. Stage IIIA Lunate collapse and fragmentation, in addition to proximal migration of the capitate.

4. Stage IIIB Lunate collapse and fragmentation, in addition to proximal migration of the capitate. In addition there is fixed flexion deformity of the scaphoid.

5. Stage IV Changes up to and including fragmentation, with radiocarpal and midcarpal arthritic changes.

The cause of fibular hemimelia is unclear. Purportedly, there have been some incidents of genetic distribution in a family; however, this does not account for all cases. Maternal viral infections, embryonic trauma, teratogenic environmental exposures or vascular dysgenesis (failure of the embryo to form a satisfactory blood supply) between four and seven weeks gestation are considered possible causes.

In an experimental mouse model, change in the expression of a homeobox gene led to similar, but bilateral, fibular defects.

Examination will often show tenderness at the radioscaphoid joint (when palpated or while moving the radioscaphoid joint), dorsal radial swelling and instability of the wrist joint. Notice that people may say they have trouble with rising from a chair when pressure is exerted on the hands by pushing against the handrail. Younger people may complain about not being able to do push-ups anymore because of a painful hand.

There are a number of tests and actions that can be performed when a patient is suspected of having osteoarthritis caused by SLAC or SNAC.

SLAC:

- Tenderness 1 cm above Lister’s Tubercle

Tests:

- Watson's test

- Finger extension test

SNAC:

- Tenderness at the anatomical snuff box

- Painful pronation and supination when performed against resistance

- Pain during axial pressure

Being an extremely rare disease, it is unknown as to what exactly causes Panner Disease. It is believed that the disease may be brought on by continuous overuse of the elbow and that puts pressure on the elbow and also strains the elbow in children during the period of rapid bone growth. The overuse of the elbow can be due to the involvement in sports such as baseball, handball, and gymnastics where these sports involve throwing or putting a lot of pressure on the joints. These repeated activities cause microtraumas and results in the affected elbow being swollen, irritated, and in pain. Panner Disease results when the blood supply to the capitellum is disrupted and therefore the cells within the growth plate of the capitellum die and it becomes flat due to the softening and collapsing of the surrounding bone. To prevent future instances of Panner Disease the child is instructed to cease all physical and sports activities that involve the use of the affected elbow until the symptoms are relieved.

Exner syndrome is sometimes misdiagnosed as interstitial cystitis in its very early stages, but once the fibula begins to malform, Exner is the only real diagnosis.