Pediatric Acupuncture Syndrome
Introduction
Introduction to Pediatric Point and Finger Toe Syndrome Acrocephalosyndactylysyndrome (Acrocephalosyndactylysyndrome), also known as Apert syndrome, pointed and pointed toe deformity, and fingertip syndrome (Syndactylicoxycephalysyndrome). It is a group of symptoms manifested in abnormalities in the skull and facial bones, accompanied by a deformed (toe) deformity. basic knowledge Sickness ratio: 0.0002%-0.0005% Susceptible people: children Mode of infection: non-infectious Complications: convulsions in children
Cause
Pediatric pointed and toe syndrome
(1) Causes of the disease
The etiology of this disease has not yet been clarified. Occasionally, it is genetic or familial. In the past, it was thought that osteoartitis, rickets, umbilical cord compression in the amniotic fluid, congenital syphilis, rubella and other causes of this disease are currently considered to be autosomal dominant inheritance. Recessive inheritance.
(two) pathogenesis
It is related to the defect of mesoderm development at 8 weeks of embryo, and the pathological changes include premature fusion of the skull, osseointegration, joint fusion and bone dysplasia.
At present, the occurrence of this disease is thought to be caused by a genetic mutation. Because the occurrence of this disease is mostly sporadic, the parents have a higher age (father is 36 years old, mother is 33 years old), and its occurrence increases with the parity. It is speculated that it may be caused by mutations in the germ cells of both parents, especially the father.
Prevention
Pediatric pointed and fingertip syndrome prevention
The etiology of this disease is not fully understood. It is thought to be caused by autosomal dominant inheritance or gene mutation. The parents have a higher age (father is 36 years old, mother is 33 years old), and its occurrence increases with the parity. It is speculated that the parents may have mutations in the germ cells of the father, and the preventive measures for this disease should be 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-ray examination (after 5 months of pregnancy) is beneficial for the diagnosis of fetal skeletal deformities.
The sex chromatin of 5 villous cells was measured (40 to 70 days after conception), and the sex of the fetus was predicted to help diagnose the X-linked genetic disease.
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 pointed and finger toe syndrome complications Complications
Convulsions, exposed keratitis, infantile glaucoma, secondary optic atrophy, may have vision loss. Spina bifida, osseous and shoulder fixation of the shoulder and elbow, low intelligence, convulsions, disturbance of consciousness, increased intracranial pressure, decreased vision, severe cases can cause blindness. In addition, combined infection can also cause encephalitis, meningitis may lead to subdural effusion, cerebral ependyeritis, hydrocephalus, sputum, mental retardation and epilepsy.
Symptom
Pediatric pointed and phalanx syndrome symptoms Common symptoms Cranial suture premature closure and finger (toe) deformity short neck tip and finger wide distance Giant foot mentally reduced ptosis squint tremor strabismus
1. Specific tower skull: The skull top is short and pointed. In almost all cases, craniosynostosis occurs, the forehead is high, and the maxilla is underdeveloped.
2. The nervous system: lack of specific changes in the brain, may have changes in brain edema, patients often have headaches and convulsions, varying degrees of mental retardation, olfactory, auditory disappearance, secondary optic atrophy is more common.
3. Eyes: The eyelids are shallow and flat, the eyeballs are prominent, the distance between the eyes is too far, the ptosis is drooping, and the exposed keratitis, exotropia and nystagmus may be present, and infantile glaucoma may be present. The visual acuity is normal before 6-7 years old. Some patients have lost vision.
4. Finger (toe) malformation: symmetry of the hand and foot and refers to the (toe), the degree of which varies, with the 2, 3, 4 fingers being the most common.
5. Spinal and limbs: hypoplasia, spina bifida, may be associated with short neck deformities, shoulder and elbow often have bony joints and joint fixation.
Examine
Examination of children's pointed and finger-toe syndrome
1. There is no abnormality in chromosome examination. Blood biochemical tests and routine examinations of blood, urine, and stool are generally normal.
2, skull X-ray examination: visible intracranial hypertension, finger indentation, bone fragments can be seen in the bone deformity, tower skull, cranial suture early closure, spina bifida, osseointegration and joint fixation and other diseases.
3, fundus examination: visible retinal edema.
4, EEG: see abnormal brain waves, mainly diffuse or localized slow wave and epileptiform discharge.
Diagnosis
Diagnosis and differentiation of children with pointed and finger-toe syndrome
diagnosis
According to the clinical manifestations, there are abnormalities of the skull and facial bone, accompanied by finger (toe) deformity, which can be diagnosed. Among them, the symmetry of the finger (toe) is a major feature of the symptom is an important condition for diagnosis.
Differential diagnosis
In the diagnosis process, Crouzon syndrome must be differentiated: also known as this syndrome, hereditary familial craniofacial dysplasia, characterized by poor maxillary formation and abnormal development of the skull. The syndrome is familial and is also a primary chromosomal dominant dysplasia, early healing of the calvarial and craniofacial bone. The performance is as follows: the eyeball is prominent, the eyes are separated too far, the upper face is wide, the mouth is arched, and the face is special. The head shape can be either a boat head or a short head shape, and the order of healing of the cranial suture and the speed of fusion are different. Vision is reduced, the eyelids are short and small, the eyeballs are prominent, and even the eyelids are highly prominent due to edema. Facial bone defects are mainly caused by the maxilla and nasal bones, and the frontal and mandibular protrusions are concave in the middle. Need to improve the CT, MRI, EEG over-phase identification.
