chondroectodermal hypoplasia syndrome in children
Introduction
Introduction to pediatric cartilage ectodermal dysplasia syndrome Cartilage ectodermal dysplasia syndrome, also known as Ellis-vanCreveld congenital malformation syndrome, congenital cartilage calcification disorder heart disease syndrome, cartilage ectodermal dysplasia syndrome, etc., is an autosomal recessive hereditary disease, characterized by short limb type Gnomes, often have congenital heart disease and mental retardation. basic knowledge The proportion of illness: 0.0002%-0.0003% Susceptible people: children Mode of infection: non-infectious Complications: mental retardation congenital heart disease
Cause
Pediatric cartilage ectodermal dysplasia syndrome etiology
(1) Causes of the disease
The sign is autosomal recessive, and the cause is still unclear.
(two) pathogenesis
It is currently believed that this disease is associated with abnormal ectodermal formation during embryonic stage, and the formation of this abnormality is related to the dystrophic tolerance of ectoderm.
Prevention
Pediatric cartilage ectodermal dysplasia syndrome prevention
The cause is still unclear. With reference to the prevention of congenital diseases, preventive measures should be carried out from pre-pregnancy to prenatal:
Pre-marital medical examination plays an active role in preventing birth defects. The size of the effect depends on the examination items and contents, including serological examination (such as hepatitis B virus, treponema pallidum, HIV) and reproductive system examination (such as screening for cervical inflammation). General medical examinations (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.
Pregnant women should avoid harmful factors as far as possible, including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals, etc. In the process of antenatal care during pregnancy, systematic screening of birth defects is required, including Regular ultrasound examination, serological screening, etc., if necessary, a chromosome examination.
Once an abnormal result occurs, it is necessary to determine whether to terminate the pregnancy; the safety of the fetus in the uterus; whether there is sequelae after birth, whether it can be treated, how to prognose, etc., and take practical measures for diagnosis and treatment.
The prenatal diagnostic techniques used are:
1 amniocytes culture and related biochemical examination (amniotic puncturing time is 16 to 20 weeks of pregnancy is appropriate);
2 pregnant women blood and amniotic fluid alpha fetoprotein determination;
3 ultrasound imaging (applicable in about 4 months of pregnancy);
4X line examination (after 5 months of pregnancy) is beneficial for the diagnosis of fetal skeletal deformities;
5 Determination of sex chromatin in villus cells (40 to 70 days of conception), predicting fetal gender to help diagnose X-linked genetic diseases;
6 application gene linkage analysis;
7 fetal mirror examination.
Through the application of the above technology, the birth of a fetus with severe genetic diseases and congenital malformations is prevented.
Complication
Pediatric cartilage ectodermal dysplasia syndrome complications Complications, mental retardation, congenital heart disease
At the same time, it is accompanied by congenital heart disease and mental retardation.
Symptom
Pediatric cartilage ectodermal dysplasia syndrome common symptoms moderate mental retardation newborn babies appear... Long bone metatarsal calcification not full length bone coarse atrial septal defect calcification
The newborn baby is in a dwarf state. For example, the long bones of the limbs are short and thick, the distal fingers (toes) are particularly small, and multiple fingers (toes) can appear, hair and teeth develop poorly, and the long bones of the whole body are incompletely calcified. In addition, the symptoms are It is characterized by congenital heart disease, common atrial septal defect, residual foramen ovale, mitral stenosis, etc., mental retardation (30%).
Examine
Examination of pediatric cartilage ectodermal dysplasia syndrome
Blood, urine, and stool routine examinations are generally normal.
X-ray chest X-ray, B-ultrasound, electrocardiogram examination found congenital heart disease, long bone calcification insufficiency, short and thick, finger (toe) is particularly small, multi-finger (toe) and so on.
Diagnosis
Diagnosis and diagnosis of pediatric cartilage ectodermal dysplasia syndrome
According to the characteristics of clinical manifestations, endocrine examination, chromosome examination can be diagnosed normally.
This disease should be associated with dwarf disorders that cause short stature, such as rickets, cretinism, pituitary insufficiency, achondroplasia, etc., but the short stature of this disease is mainly due to the lower jaw, below the tibia and elbow. Due to the short ulna and radius, it is not difficult to identify the clinical appearance or X-ray examination.
