Pediatric Amsterdam Dwarf
Introduction
Introduction to the Amsterdam-type gnome Amsterdam-type dwarf is deLangeI syndrome, also known as Amsterdam syndrome, Brachmann-deLange syndrome, CorneliadeLangeI syndrome, etc., is a congenital abnormal disease, major developmental disorders, multiple malformations, abnormal brain development, gastrointestinal tract Abnormal, etc. basic knowledge Sickness ratio: 0.0001% Susceptible people: children Mode of infection: non-infectious Complications: epilepsy
Cause
Pediatric Amsterdam dwarf cause
Causes:
The etiology of this disease is unknown and may be related to heredity. It is a congenital anomaly with no genetic or known chromosomal aberrations.
Pathogenesis:
It has been reported that some cases have chromosomal abnormalities, and the main part of G chromosome is obviously shifted to chromosome A3 and other groups of chromosomes overlap, which can exclude environmental damage factors during pregnancy, pathological examination has brain development abnormalities, small head and Degeneration of the brain, abnormal gastrointestinal tract, occasional heart malformation.
Prevention
Pediatric Amsterdam dwarf 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 amniocentesis cell culture and related biochemical tests (amniotic puncture time is appropriate for 16 to 20 weeks of pregnancy); 2 maternal 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 malformation; 5 chromatin determination of villus cells (40 to 70 days of conception), predicting fetal sex to help diagnose X-linked genetic diseases; 6 application gene linkage analysis; 7 fetal microscopy.
Through the application of the above technology, the birth of a fetus with severe genetic diseases and congenital malformations is prevented.
Complication
Pediatric Amsterdam dwarf complications Complications
Development and weight are significantly affected, may have seizures, may have congenital heart defects.
Symptom
Children's Amsterdam-type pygmy symptoms Common symptoms Short-head deformity Moderate mental retardation Hairpins Short nails Pale pale Facial limbs Short-term deformity Strabismus Skin spot-like epilepsy and epileptic seizures
Skin
The face and forehead are hairy, the back is marbled, and the mouth is pale and bun.
2. Head
Short or small short, eyebrows are slender and thick, often connected in the midline, eyes often have double internal strabismus, low ear, small nose upturn, wide backlash, small upper lip, midline saclike, lower lip with corresponding notch, The angle is down.
3. Limbs
The elbow extension of the arm is restricted, the hand has a crease line, the thumb is short or absent, the finger is short, the inner curve is curved, some are underdeveloped or missing, the hands are not symmetrical, the part or all of the foot is short, and the limb is short. dwarf.
4. Other
Low birth weight, mental retardation, limited vocabulary or no language, need to be carried out or alone, development and weight are significantly affected, 20% may have seizures, 17% have congenital heart defects.
Examine
Pediatric Amsterdam-type gnome check
Blood, urine, and routine examinations are generally normal.
Echocardiography, X-ray examination can be seen in the development of hand and foot malformations and congenital heart disease, EEG can have epileptiform discharge.
Diagnosis
Diagnosis and identification of children's Amsterdam-type dwarf
According to the special face, skin texture changes, and other clinical manifestations, chromosomes, blood, urine, cerebrospinal fluid examination is usually normal, nitrogen balance check, basal metabolic rate test is usually normal, on the contrary there are serious growth disorders, endocrine tests may exist Some kind of defect and differential diagnosis may help.
Different from the dwarf caused by endocrine abnormalities, according to clinical characteristics and laboratory tests can help differential diagnosis.
