Bone dysplasia is a group of disorders characterized by abnormal bone and cartilage growth, shape, integrity and development. It is a rare condition and occurs in children. Children affected by this condition are very short in stature, have bowlegs or knock-knees, spine curvature (scoliosis), difficulty in breathing during sleep (sleep apnea) and may not have complete joint motion. Bone dysplasia is caused by mutation in a gene. The condition may be inherited or develop spontaneously during conception.
Your physician will diagnose the condition based on your child’s family history and a thorough physical examination. Your doctor may order imaging studies such as X-ray, CT scan, MRI scan and also a prenatal ultrasonography in suspected cases.
Treatment is based on the problems your child is facing with bone dysplasia. Your doctor may perform limb lengthening surgery, where your doctor cuts the shortened bone into two pieces and pulls them apart. Over a period of time, new bone forms in between them, thus lengthening the bone. Curvature of the spine can be corrected by surgery using metal rods or screws to help straighten the spine.
Congenital muscular dystrophy (CMD) is a group of diseases affecting the muscles that occur at birth or during infancy. CMD is characterized by progressive muscle weakness and degeneration, severe joint stiffness (contractures) and delays in achieving motor milestones such as unassisted sitting or standing. Some forms of CMD may be associated with structural brain defects and mental retardation.
Diagnosis of CMD is made based on clinical findings, imaging tests performed on the brain and muscles, molecular genetic testing (DNA is tested for abnormalities), and removal of the affected muscle (biopsy) for analysis in the laboratory.
No definitive treatment is available for congenital muscular dystrophy; however, the condition can be managed with supportive care to improve the patient’s quality of life and longevity. Treatment is designed with regard to the specific symptoms. Orthopedic complications may require surgical interventions. Physical therapy and assistive devices such as braces, wheelchairs and walkers can help promote mobility and treat contractures. Respiratory therapy and respiratory aids may be recommended for those with respiratory insufficiency. Speech therapy and close attention to oral hygiene may also be indicated.
The Femoral neck is a part of the thigh bone (femur) which connects the head of the femur to the shaft of the femur. An injury or crack caused in the femoral neck due to repetitive force, overuse of the bone or insufficiency in bone development is termed a femoral neck stress fracture. These fractures are usually caused in athletes and gymnasts because of their excessive training and changes in practice surfaces.
The most common symptom of a femoral neck fracture is deep thigh or groin pain which increases during your activity, spreads to other parts, and increases during the night or while sitting on the chair with your legs down.
Femoral neck stress fracture can be diagnosed with the help of a physical examination and tests such as the fulcrum test or one-legged hop test. Your doctor may also recommend imaging tests such as X-rays and MRI to confirm the diagnosis and find the specific location and cause of the fracture.
Femoral neck stress fracture is treated by taking complete rest from your sports activities. Your doctor may also recommend physical therapy to improve your mobilization and stretching abilities. For severe fractures, surgery would be necessary.
Growth plates are areas of soft, cartilaginous tissues present at the end of long bones in growing children. These cartilage tissues or soft bones later harden to become solid bones in adulthood once growing has completed. A fracture of these bones is termed a growth plate fracture. This type of fracture is most often caused from a fall or severe blow to the limb during sports activities such as football, basketball and gymnastics or from vehicular accidents.
Growth plate fracture may show symptoms such as:
- Difficulty in moving your limb in the affected area
- Pain and tenderness of the affected bone
- Difficulty in carrying heavy weight or putting pressure on the affected limb
- Swelling and warmth near the joint
Your doctor can diagnose growth plate fractures with the help of imaging tests such as X-rays, CT scan and MRI. They may order images of both the limbs for comparison between the normal and injured limb.
Treatment for growth plate fractures depends on the severity of the fracture. Mild fractures can be treated with the help of immobilization with a cast. If the fracture is severe and has affected the underlying bone, surgery may be required to realign the bone.