Acondroplazy

Acondroplazia is an inherited disease of bone growth that causes most types of piticism. Part of the group collectively condrodistrofii diseases. Acondroplazia is characterized by abnormal bone growth and determination of short stature with disproportionate short arms and legs, large head with front boselare, collapsed chest, increased weight and characteristic facial features.Intelligence and lifespan are usually normal, although the risk of infant death by compression of the brain or spinal meduvei is increased.
Skeletal dysplasia is a heterogeneous group of diseases characterized by abnormalities intrinsic cartilage and bone growth and remodeling. These dysplasia affecting the skull, spine and extremities in varying degrees. Determine often disproportionate short stature in normal percentile avirstei. Acondroplazia is the most common type of disproportionate piticism.Piticismul frequently refers narrow short limbs or trunk, depending on the damage. Acondroplazia, and chondroplaziile hipocondroplazia epiphyses are considered diseases with shorter limbs. Other terms to describe the affected limb are rizomelic-proximal, middle or mezomelic-acromelic-distal. The main damage is rizomelica acondroplazie arms and thighs more affected compared to his arms and legs and soles.
The mortality rate is high for all ages. In children under 4 years brain death occurs by compression of the base. Persons aged 5-24 years and respiratory problems, central nervous system. In people over 25 years are the most common cardiovascular problems. Morbidity associated with acondroplazia may include: recurrent otitis media with hearing loss, neurological complications cervicomedulara compression (hypotonia, respiratory insufficiency, apnea, cyanotic episodes, problems of nutrition, cvadripareza, sudden death). Other complications include pneumonia, apnea, spinal deformities, obesity, hidrocefalus, genu varum.
Somatropin has revolutionized the treatment of small stature.Growth hormone is now used to enlarge the height acondroplazie patients. The most significant acceleration of growth is observed in the first year of treatment. No studies have been conducted to determine the final height. Starting early at young ages is recommended therapy. The problems discovered in these orthopedic patients are associated with the column.Craniocervicala stenosis, thoracolombar kyphosis, spinal stenosis, angulation deformities of the lower extremities and limb lengthening are problems that can be improved through surgery.
Acondroplazie - pathogenesis, causesAcondroplazia is inherited by an autosomal dominant pattern. 80% of cases appear to be the result of spontaneous mutations. If a parent has a 50% chance acondroplazie no inheritance of the disease in children. If both parents have provided the risk increases to 70%.Primary defect is described in acondroplazie endocondrala abnormal ossification. Intramembranoasa periosteala ossification and normal. Tubular bones are short and thick periosteala reflecting normal development. Iliac crest apophyses are common.Endocondrale abnormal cartilage.The most important complication in people with neurological acondroplazie is associated with spinal canal stenosis. Spinal canal stenosis is secondary to synostosis anomalies endocondrale premature ossification centers of ossification of the vertebral body. Result lamina thickening, shortening the pedicles and vertebral body height reduction. Additional factors such as Bone spurs, kyphosis thoracolombar prolapse and disc space collapse contributes to the spinal canal. Patients with brain morfometriei acondroplazie changes of progressive compression of the frontal lobes. This is the result boselarii front.Hydrocephalus associated with acondroplazia is mediated by the reduction of blood flow in superior sagittal sinus and venous stasis.
Causes and Risk FactorsA single gene on the short arm of chromosome 4 is responsible for acondroplazie and is transmitted in an autosomal dominant pattern.