Elbow joints

Among all the hereditary diseases of the connective tissue of greatest interest to physicians and general practitioners is Marfan syndrome, as life expectancy in these patients is limited to 30-40 years [1] and one patient can have as many health problems, many specialists in the clinic. Because the disease is known to be a serious prognosis for life and disability of patients, diagnosis imposes a special responsibility on the doctor's first encounter with the patient.

In 1896, a French professor and pediatrician Antonio Marfan first introduced the clinical observation of 5-year-old girl with unusual Gabriel continuously progressive skeletal abnormalities [2]. The girl died at a young age, probably from tuberculosis [3]. External habit Gabrielle and these patients have since became known as Marfan's syndrome. As later became clear, in fact, Gabrielle congenital arachnodactyly kontrakturnoy [4]. After 20 years, were described first fenokopii marfanopodobnyh syndromes, in particular, the syndrome of ectopic lenses with autosomal dominant inheritance [5,6], even after 30 years - a syndrome dilatation [7], and aortic dissection [8], mitral valve prolapse [9, 10], dural ectasia [11].

Weve H. [6] first suggested that the cause of Marfan syndrome is a defect in the mesoderm, and the renowned American geneticist at McKusick in the schedule of inherited human diseases, «On-Line Mendelian Inheritance In Man» (OMIM) opened this syndrome, a new nosological Page hereditary connective tissue diseases [12]. Syndrome phenotype is characterized by a length, ranging from mild, soft soedinitelnotkanoy manifestations of dysplasia, are also found in the general population to the cases with life-threatening systemic disorders [13].

The main document on which the diagnosis of Marfan syndrome was based, was introduced in 1986 - the so-called Berlin Nosology [14]. Among the criteria of the Berlin nosology above all puts the advances in molecular genetics [15]. However, the installed location of the gene in Marfan syndrome autosomes 15q21 [16,17], encoding the microfibrillar protein fibrillin-1, is not unique and is specific to Marfan syndrome [18]. A mutation in the gene cognate protein - fibrillina-2 also leads to clinical manifestations marfanoidnogo habit [14,15]. Nosologic forms with phenotype "Marfan" such as kontrakturnaya arachnodactyly and family mitral valve prolapse - MASS-phenotype, had a mutation in the same genes [19]. Most of erroneous diagnoses in relatives of patients, as it turns out, are related to the revaluation of the significance of molecular genetic studies, as in the case of their positive family history of disease have led to bias in the diagnosis of other family members [20,21]. Only common molecular genetic [22,23,24] and clinical studies [25,26] have reasonable grounds to create a full diagnostic criteria.

Current criteria for diagnosis of Marfan syndrome developed in 1996 jointly by Compare Viagra and injections geneticists and clinicians, and are offered for wider use by physicians of all specialties [27].

"Big" is a criterion because of its greater specificity, since it is rare in other states and in the general population. In general, the diagnostic decision should be based on more criteria of the disease. It is important to distinguish between the "big test", is available in the system of organs and determines the disease, from the "system of organs involved in the process soedinitelnotkanoy dysplasia.

Diagnostic criteria for pathological skeletal

More criteria. "The great criterion" Pathology of the skeleton is the presence of at least 4 of the following symptoms:

- Pigeon chest deformity, or funnel chest big powers, subject to surgical treatment;

- Reduction of the upper segment of the body (body height) in relation to the bottom, or if the span exceeds growth at 5%;

- Test positive wrist and thumb (see below);

- Scoliosis over 20 ° or spondylolisthesis;

- The impossibility of full extension of elbow joints (angle <170 °);

- Medial displacement of inner ankles as a result of longitudinal flat;

- Protrusion of the acetabulum of any degree (with radiography).

Minor criteria:

- Funnel chest moderate degree;

- Hypermobility of the joints;

- High arched sky with a "crowded" teeth;

- Anomalies of skull and face (dolichocephaly, hypoplasia of the jaw, endophthalmitis - a deep-set eyes, retrognatiya, obliquely drooping folds of the eyelids).

Pathology of the skeleton to verify the diagnosis of Marfan's syndrome "should be represented by two more criteria (in the presence of symptoms) or brand name viagra one more criteria (4 features) and two small criteria [27].

Comments. Many skeletal abnormalities are common in the population, but the combination of certain defects of the above is highly specific for diagnosis. For example, hypermobility of joints - is one example of a high prevalence among the population, so the individual significance of this sign is very small and it is not incorporated into larger diagnostic criteria. On the contrary, such a sign as congenital joint contractures are rare in the general population, but not often and Marfan's syndrome (characterized by contractures of the elbow joints). In the case of severe joint contractures and reduce joint mobility in combination with other skeletal abnormalities is necessary to differentiate Marfan syndrome with congenital arachnodactyly kontrakturnoy [27].

For chest wall deformity in Marfan's syndrome is more common sternum, protruding and anteversion left costo-chondral compound that attaches to the chest asymmetry.

Value growth and reach, judged in the light of anthropometric factors derived Gordon SS et at anthropometry personnel of the American army in 1988 [28]. The ratio of upper / lower segments studied in individuals of all ages McKusick [29,30], and later by others [14,31,32].

Test your wrist is in circumference wrist with the thumb and little finger, and their terminal phalanges with the overlap [33]. Test of thumb is to fix it across the palm of your hand without further assistance: the positive is when the nail phalange of the thumb beyond the ulnar edge of the palm [34].

Scoliosis of various degrees, usually thoracic, convexity to the right, there are at least 60% of patients. Anomalies of the spine in the sagittal plane, such as straightening or kyphosis giperkifoz also deserve attention. Spondylolisthesis occurs in 6% of cases [35].

To confirm the diagnosis of Marfan syndrome should be identified protrusion of the acetabulum. To this end, recommend X-rays, or methods that reduce or eliminate radiation exposure - computed tomography or magnetic resonance imaging [36].

Diagnostic criteria of Pathology

More criteria:

- Ectopia of the lens.

Minor criteria:

- Abnormally flat cornea (identified by keratometry);

- Increasing the length of the eyeball (measured by ultrasound);

- Hypoplastic iris or hypoplastic ciliary muscle, leading to a deterioration of miosis and accommodation.

For the diagnosis of significant involvement of the ocular system, as evidenced by the presence of a large, or at least 2 minor criteria [27].

Comments. Adequate assessment of ectopic lenses is possible with full pupil dilation and study in a slit lamp. Dislocation is a one-or two-way and in any direction, although most are offset upward. Iridodonesis flutter (iris) is secondary to ectopic lens, and therefore can not be regarded as a hallmark of Marfan syndrome [27].

The radius of curvature of the cornea should be examined keratometricheski. The degree of corneal flattening is positively correlated with ectopias lens. Megalokornea rarely found in Marfan syndrome, but can not be even a small diagnostic criteria.

Other way
Leather Massage Chair