beak-like nose
Introduction
Introduction The beak-like nose is one of the characteristic body types and constitutions of Werner syndrome. All cases were normal at birth and normal in early childhood, with only sudden growth in school-age or adolescence. The limbs and the trunk are simultaneously stagnant, so they can maintain a uniform symmetry and a short stature. The bridge of the nose is towering, with a characteristic beak-like nose (eagle hook nose). This disease is an autosomal recessive hereditary disease, which is more common in the offspring of blood marriages, especially among the cousins of cousins. The disease gene is located at 8p12~p11.
Cause
Cause
This disease is an autosomal recessive hereditary disease, which is more common in the offspring of blood marriages, especially among the cousins of cousins. The disease gene located in 8p12~p11 is one of the characteristic body types and constitutions of Werner syndrome. There is also a short stature in 1 puberty; 2 short torso and slender limbs. Werner syndrome is a gender-related disease with a male to female ratio of 1:1. Although most cases are familial, there are also scattered cases.
Examine
an examination
Related inspection
Epidural examination of epidemic cerebrospinal meningitis before immunology
1. Biochemical examination: Blood lipid analysis in most patients showed elevated cholesterol, -lipoprotein and triglyceride. Urinary creatinine and amino acids are elevated.
2. Immunological examination: T cell reduction and T cell immune function are low. Anti-lymphocyte antibodies can be positive.
3. X-ray examination: osteoporosis of the spine and limbs, in the soft tissue of the limbs, especially around the bony prominence, linear and rounded calcification shadows. In the aorta, aortic valve, mitral valve and coronary artery, there is also extensive calcification with signs of heart enlargement and congestive heart failure.
4. Chemical analysis of lesion biopsy showed elevated hydroxyproline and glucosamine.
Diagnosis
Differential diagnosis
Diagnosis should pay attention to the difference between this syndrome and muscular dystrophy. The muscle atrophy is most obvious in the diaphragm. The patient has an "axchet-face". In severe cases, the mandibular and cervical muscles can be severely atrophied. Stressful reactions are the most important point of identification for both. It should also be noted that this syndrome is distinguished from scleroderma, fingertip sclerosis, and acromegaly with palm skin sclerosis. According to these diseases, there are no hair whitening, premature alopecia, and the presence or absence of the characteristic face and body shape of Werner syndrome, which is easier to identify.
Werner syndrome must be carefully identified with natural aging. In addition, it must be associated with Rothmund syndrome, cutaneous cataract with neuromyositis (Andogsky syndrome), dysplasia with dysplasia (Hutchinson syndrome), hair and nail malnutrition Ectodermal dysplasia (Ellis-van Greveld syndrome), myotonia dystrophy (Steinert syndrome), etc., are distinguished.
