High palate arch

Introduction More common in Marfan syndrome, mainly with slender limbs, spider fingers (toes), arms extended beyond the length of the body, hands hanging over the knees, the upper body is longer than the lower body. Long head deformity, narrow face, high bow, large ears and low position. Less subcutaneous fat, muscles are underdeveloped, wrinkles on the chest, abdomen, and arms. Low muscle tone, showing a weak body. The ligaments, tendons, and joint capsules are elongated, relaxed, and the joints are overstretched. Sometimes see the funnel chest, chicken breast, kyphosis, scoliosis, spina bifida and so on.

Cause

The original defect of this disease is unknown. It has been suggested that the lateral association between elastin and collagen tissue peptide chains is impaired, that is, lysyl oxidase deficiency. In addition, it is associated with acid mucopolysaccharide deposition, increased sialic acid, hyaluronic acid accumulation, poor formation of chondroitin sulfate or excessive destruction.

an examination

Related inspection

General radiography, Doppler echocardiography, magnetic resonance imaging (MRI)

The main hazard of Marfan syndrome is cardiovascular disease, especially combined aortic aneurysm, which should be detected early and treated early. According to the clinical manifestations of bone, eye, cardiovascular changes, the three main signs and family history can be diagnosed. Clinically, it is divided into two types: those with three main characteristics are called complete types; those with only two items are called incomplete types. The simplest means of diagnosing this disease is echocardiography, which can be performed by anyone with suspicion. Further diagnosis requires MRI (magnetic resonance imaging).

Differential diagnosis

Identification: Marfan syndrome should be identified as complete or incomplete. The three main signs of bone, eye and cardiovascular changes are called complete types, and only two of them are called incomplete types.

Diagnosis: The main hazard of Marfan syndrome is cardiovascular disease, especially combined aortic aneurysm, which should be detected early and treated early. According to the clinical manifestations of bone, eye, cardiovascular changes, the three main signs and family history can be diagnosed. Clinically, it is divided into two types: those with three main characteristics are called complete types; those with only two items are called incomplete types. The simplest means of diagnosing this disease is echocardiography, which can be performed by anyone with suspicion. Further diagnosis requires MRI (magnetic resonance imaging). There is currently no specific treatment.

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