Chondroectodermal hypoplasia

Introduction to cartilage ectodermal dysplasia Chondrectodermal dysplasia was first reported by Ellis and VanCreveld in 1940, so it is often called Ellis-VanCreveld syndrome. It is more common in families with relatives who are married, and is autosomal recessive, mesoderm. Both the ectodermal tissue and the ectodermal tissue are often associated with congenital heart disease. basic knowledge The proportion of illness: 0.0002% Susceptible people: no special people Mode of infection: non-infectious Complications: congenital heart disease

Cartilage ectodermal dysplasia

(1) Causes of the disease

It is not yet clear that it is currently thought to be related to abnormal ectodermal formation during embryonic stage, probably due to dystrophic tolerance of ectodermal leaves.

(two) pathogenesis

No relevant information.

Cartilage ectodermal dysplasia prevention

1. In the early stage of pregnancy (before 3 months), try not to sit too long in the magnetic field such as the microwave oven in front of the computer. Because the fetus is still unstable, the organs are still forming, which may cause the child's deformity.

2. Should pay attention to the mother's pregnancy, especially in the early pregnancy, such as active prevention of rubella, influenza, mumps and other viral infections. Avoid contact with radiation and some harmful substances. Under the guidance of a doctor, avoid taking drugs that have an effect on fetal development, such as anticancer drugs, and carbosine. Active treatment of primary diseases such as diabetes. Pay attention to the diet and avoid nutrient deficiencies. Prevent local mechanical compression around the fetus. In short, to prevent congenital heart disease, all factors related to the disease should be avoided.

Cartilage ectodermal dysplasia Complications congenital heart disease

Congenital heart disease and dislocation of the humeral head, osteophytes in the metaphysis of the proximal humerus.

Symptoms of cartilage ectodermal dysplasia Common symptoms Chondroital dysplasia and... Index finger nail depression tooth eruption abnormal cleft lip and palate testicular hypoplasia

The appearance of the gnome at birth is characterized by poorly developed cartilage, multiple fingers, poor development of the ectodermal tissue, affecting the growth of hair, teeth, nails, and congenital heart disease.

1. The dysplasia of the cartilage is upper, the long bone of the lower limb is shortened, and the distal segment is more severe than the proximal segment. Therefore, the long bone below the knee and the elbow is shorter, and the influence on the trunk is not large, so the pygmy is formed, and the proximal end of the tibia is expanded. , sharpened, poor osteophyte development, and lateral medial slip, there is a prominent epiphysis in the medial aspect of the metaphysis of the proximal humerus, the humerus is short, and the cartilage is incomplete, the calf is knee valgus, the tibia is displaced outward, the humerus The head often dislocation, the phalanx is very short, this is because the phalanx has no ossification center, the carpal bone and the ruler, the humerus can be fused; the femur and tibia are arched, short and thick; the rib is short, so the thorax can be long and narrow, the head is normal, and the sac is normal. It is a typical feature, more common in the ulnar side, more common on the temporal side.

2. The ectodermal tissue dysplasia is characterized by nail dysplasia, small nails, spoon-shaped, concave on the dorsal side, teeth erupted late, irregular, pointed, occlusal, maxillary gingival pad fusion, upper lip palpebral sulcus Closed, and have bald hair and so on.

3. Mesoderm defects manifest as congenital heart disease, common atrial septal defect or ventricular septal defect, mitral stenosis, the heart may be 3 or 2 rooms.

Examination of cartilage ectodermal dysplasia

The X-ray examination of the limbs of the spine is feasible, and the knees are visible, and the long bones below the elbows are shortened.

Diagnosis and identification of cartilage ectodermal dysplasia

The patient's intelligence is normal, sometimes accompanied by other malformations, such as testicular abscess, cleft palate and so on.

The main shortness of the disease is characterized by sputum below the knee, radius of the tibia and elbow, and shortening of the humerus. Therefore, it is not difficult to identify according to the clinical appearance and X-ray examination.

The disease should be differentiated from dwarf diseases such as vitamin D deficiency, dysplasia, pituitary insufficiency, and achondroplasia.

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