Convex palate

Introduction Condyle is a clinical manifestation of skull disease in Ma Fang syndrome. The disease is autosomal dominant, and Dietz et al. (1991) mapped the disease gene to 15q15~q21.3 through linkage analysis of the family. In many tissues of the human body such as endocardium, heart valve, large blood vessels, bones, etc., there are accumulation of mucopolysaccharide such as chondroitin sulfate A or C, which affects the structure and function of elastic fibers and other connective tissue fibers, so that corresponding Organ dysplasia and dysfunction.

Cause

The cause of bulging: The disease is autosomal dominant, and Dietz et al. (1991) mapped the disease gene to 15q15~q21.3 through linkage analysis of the family. In many tissues of the human body such as endocardium, heart valve, large blood vessels, bones, etc., there are accumulation of mucopolysaccharide such as chondroitin sulfate A or C, which affects the structure and function of elastic fibers and other connective tissue fibers, so that corresponding Organ dysplasia and dysfunction. Abraham et al (1982) suggested that aortic elastin is abnormal, desmosome and isopsin protein are reduced, and lysyl residues are correspondingly increased, which is the main change of the disease. The urinary hydroxyproline excretion increased, and the blood mucin and mucopolysaccharide also increased.

an examination

Related inspection

Blood test head flat film

Diagnosis of the bulge: The disease is autosomal dominant, and Dietz et al. (1991) localize the disease gene to 15q15~q21.3 through linkage analysis of the family. In many tissues of the human body such as endocardium, heart valve, large blood vessels, bones, etc., there are accumulation of mucopolysaccharide such as chondroitin sulfate A or C, which affects the structure and function of elastic fibers and other connective tissue fibers, so that corresponding Organ dysplasia and dysfunction. Abraham et al (1982) suggested that aortic elastin is abnormal, desmosome and isopsin protein are reduced, and lysyl residues are correspondingly increased, which is the main change of the disease. The urinary hydroxyproline excretion increased, and the blood mucin and mucopolysaccharide also increased.

Differential diagnosis

Discriminant diagnosis: skeletal lesions are the main lesions, and are easy to prompt diagnosis, the incidence rate is 80% to 97.2%.

(1) The body is thin and tall, and the limbs are slender, especially the forearms and thighs: 1 height >180cm; 2 finger distance> height (both hands stretch, two middle finger distance - height >7.6cm, diagnostic value); 3 lower body ( From the pubic symphysis to the sole of the foot > upper body (from the top of the head to the pubic symphysis), the ratio is > 0.92 (normal person 0.92).

(2) Spider finger/toe-like changes: 1 finger (toe) is particularly long, with a typical spider-like change, hand to height ratio >11%, foot to height ratio >15%; 2 thumb sign: The thumb is adducted, the other 4 fingers are fists, the tip of the thumb is beyond the lower edge of the palm, and about half of the patients have this sign; 3 wrist sign: holding the hand under the styloid process of the other hand with one hand The thumb and the little finger can be contacted under no-pressure conditions, with 82% of the sign; 4 metacarpal index and phalanx index increase, and the normal metacarpal index is 8.4 (8.4-10.5). 5 Other finger (toe) anomalies: There may be a clubbing, a finger (toe), a thin palm, and a flat foot.

(3) Skull lesions: 1 long, narrow, convex; 2 skull index > 75.9; 3 eyes are too wide or too narrow, mandibular length; 4 teeth are not aligned, lack of wisdom teeth, etc.; 5 ears forward Or drooping, the ear wheel is meager, shaped like an old man.

(4) changes in thoracic and spinal deformities: 1 chicken breast, flat chest, funnel chest; 2 hunchback, spine or spine.

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