Geleofizicheskaya dysplasia - Causes, Symptoms, Diagnosis and Treatment
Geleofizicheskaya dysplasia - A hereditary disease caused by a violation of the cell growth and development, as well as the functioning of some of the connective tissue components. Symptoms of the disease are characteristic facial appearance ( "happy"), short stature, short limbs, muscle hypertrophy, difficulty of movement in the joints. Diagnosis geleofizicheskoy dysplasia is made on the basis of the present status of the patient, study his family history, genetic research. Specific treatment of pathology does not exist, sometimes surgery is performed to correct the defects of the heart valves.
Geleofizicheskaya dysplasia
Hepatomegaly available in almost every case of the disease and it can be caused by a primary lesion of the liver, and blood stagnation in the development of heart failure.
histological study. On examination revealed the characteristic appearance of the patient geleofizicheskoy dysplasia, "happy" face, short stature, muscle hypertrophy possible. Physical examination reveals an enlarged liver, heart auscultation when noises can be detected due to aortic stenosis, mitral or pulmonary valves. At older ages, you can detect and secondary changes in the heart caused by these violations.
Histological study of the tracheal tissue or liver produce in cases of dispute and failure to conduct genetic-molecular research. Thus at geleofizicheskoy dysplasia cells observed a large number of vacuoles lysosomal origin. Sometimes they can be found in macrophages, which allows not to make an invasive biopsy, but simply examine blood. Physician-geneticist may be performed direct sequencing of genes and ADAMTSL2 FBN1 to identify mutations. Thus, not only can be proved geleofizicheskoy diagnosis of dysplasia, but also to determine its type - this is important, because different types have different inheritance. Also, genetic methods can be found abnormal gene carrier (if geleofizicheskoy dysplasia type 1) or carried out prenatal diagnosis of this condition.
joint contractures. Forecast geleofizicheskoy dysplasia often unfavorable in many respects it depends on the severity of cardiovascular disorders, in some cases, can occur death at an early age of heart failure.