Pediatric Edwards Syndrome
Introduction
Introduction to Pediatric Edwards Syndrome Edwards syndrome, trisomy 18syndrome, was discovered by Edwards et al in 1960. It is also called Edwards syndrome. The survival rate of patients is extremely low. The cases of survival for 2 years are rare. The children have prominent occipital bones. Low deformity ear, small eye, congenital heart disease and other external and visceral malformations. basic knowledge The proportion of illness: this disease is rare, the incidence rate is about 0.0001%-0.0002% Susceptible people: children Mode of infection: non-infectious Complications: cleft lip, cleft palate, umbilical hernia
Cause
The cause of pediatric Edwards syndrome
(1) Causes of the disease
In most cases, the whole cell is a trisomy of chromosome 18, and a few are part of the trisomy of chromosome 18 caused by chimeric and chromosomal break translocations. The trisomy are mostly from older mothers, and the average age at birth is 32. The old, translocation type can be derived from the new mutation (new no devo), and can also be inherited by the parents of the balanced translocation carrier. The translocation type can only cause the short arm of chromosome 18, centromere and long arm. Part of the three bodies.
(two) pathogenesis
Edwards syndrome is a multiple malformation syndrome caused by chromosomal aberrations. The three-body type cells contain three chromosomes 18, which destroy the balance of genetic material in the body, leading to bones, genitourinary system, heart, skin wrinkles, hair, Abnormalities and abnormalities of multiple organs such as the lungs and kidneys. If only part of the three arms of the short arm are involved, there is no special clinical manifestation, and there is no or only mild mental retardation, including the short arm of the chromosome 18 and the long arm. Some of the trisomy showed signs of 18-trisomy and were milder.
Prevention
Pediatric Edwards Syndrome Prevention
In the genetic counseling of the parents' birth again, although the recurrence rate of the standard Edwards syndrome does not have sufficient data, according to the chromosome analysis of the study of spontaneous abortion, the recurrence rate is probably smaller than that of Down syndrome. For translocation children, their parents' chromosomes should be examined to determine if one of them is a carrier of a balanced translocation. This carrier has a greater chance of regenerating a child with this syndrome and requires a prenatal diagnosis.
Complication
Pediatric Edwards syndrome complications Complications, cleft lip, splitting, umbilical hernia
Growth and development disorders, accompanied by a variety of cardiac malformations, cardiovascular malformations are often the cause of death, occasionally meningocele, cleft lip, cleft palate, posterior nostril atresia and external auditory canal atresia, and esophageal fistula, right lung abnormalities Leaves or absent, umbilical hernia, inguinal hernia, pyloric stenosis, sputum is also more common, still visible digestive tract, urinary tract and other malformations, pelvic stenosis, hip dislocation, short limb deformity, boys may have cryptorchidism, girls may have Clitoris and labia minora dysplasia, perineal abnormalities and anal atresia, ovarian hypoplasia, bilateral uterus and scrotal division, may also be associated with thyroid, thymus and adrenal gland dysplasia.
Symptom
Symptoms of pediatric Edwards syndrome Common symptoms Cardiac malformation, valgus, hip dislocation, ventricular septal defect, short vascular malformation, muscular dysplasia, corneal opacity, esophageal fistula, pyloric stenosis
Growth and development disorder
Newborns are often out of date, the mother's average pregnancy is 42 weeks, the child's general birth weight is light, the placenta is often small, mostly unilateral umbilical artery, the patient's mental and motor development retardation, small size, difficulty breastfeeding, weak response to sound , bone and muscle dysplasia.
2. Multiple malformations
(1) Craniofacial: long anterior and posterior diameter, small head circumference, prominent occipital bone, widened eyes and eyebrows, suede on both sides, corneal opacity, eyelid valgus, small eye deformity, slender nose and bulge The nostrils often turn up, the mouth is small, the zygomatic arch is high and narrow, the lower jaw is small, the ear position is low, the ear is flat, and the upper part is sharp. In addition, occasional meningeal bulging, cleft lip, cleft palate, posterior nostril atresia and external auditory canal atresia .
(2) Chest: short neck, neck squat, short sternum, small nipple, dysplasia, long distance between the two nipples, more than 95% of cases have cardiac malformations, often ventricular septal defect and patent ductus arteriosus, atrial septal defect is rare, Also seen in the aorta or pulmonary artery two-valve, aortic coarctation, tetralogy of Fallot, aortic riding, right heart, right aortic arch, etc., these cardiovascular malformations are often the cause of death, but also esophageal fistula The right lung is abnormally lobulated or absent.
(3) Abdominal: Abdominal muscle defects are more common in umbilical hernia, inguinal hernia, pyloric stenosis, sputum is also more common, but pancreatic or spleen ectopic, poor intestinal dysfunction, gallbladder dysplasia, etc., renal deformities including polycystic kidney disease, etc. The kidney and horseshoe kidney, hydronephrosis, giant ureter and double ureter, etc., pelvic stenosis is more common.
(4) Limbs: The posture of the hand is a characteristic manifestation of Edwards syndrome: finger flexion, thumb, middle finger and finger tightening, indicating finger pressure on the middle finger, small finger pressing on the ring finger, fingers not easy to straighten, nail development The index finger, the middle finger often has and refers to, multi-finger, the fifth metacarpal is short, the big toe is short and dorsiflexion, due to increased muscle tension, limited thigh abduction, congenital dislocation of the hip, occasionally short limb deformity.
(5) genitals: 1/3 of boys have cryptorchidism, girls 1/10 have clitoris and labia majora dysplasia, often seen abnormal perineal and anal atresia, rare ovarian hypoplasia, bilateral uterus and scrotum division.
(6) Endocrine system: may have thyroid dysplasia, thymus and adrenal gland dysplasia.
(7) Skin: The skin has many hairs and wrinkles. The fingerprint features include more than 6 bow lines, the fifth finger has only one horizontal grain, and 30% has a through hand (or a twist line).
Examine
Pediatric Edwards syndrome check
1. Analysis of karyotype of peripheral blood lymphocytes
The chromosome 18 is deeply stained. The short arm is generally shallow, with only one zone. There is a distinct deep zone on the proximal and distal sides of the long arm. The arm is divided into two zones. The shallow zone between the two deep zones is In Zone 2, Zone 1, the normal human cell has a chromosome of 18, and the chromosome 18 of the disease is one more than the normal one, that is, the chromosome 18 is trisomy. The disease is 80% pure trisomy and the karyotype is 47. , XX(XY), 18; 10% is chimeric, karyotype is 46, XX (XY) / 47, XX (XY), 18; the remaining 10% of cases are complicated, including various translocations, mainly 18 Chromosome and D group chromosomal translocation.
2. Amniocentesis cell culture chromosome examination
Edwards syndrome is extensive, severe, and often early death. It is the key to prenatal and postnatal care to reduce the birth of such children. The use of amniotic fluid cells for chromosome examination is a commonly used prenatal diagnosis method. The karyotype analysis is similar to the peripheral blood lymphocyte chromosome. an examination.
Can be routinely done a variety of imaging examinations, X-ray films, ultrasound, electrocardiogram, EEG, etc., often can be found in various types of congenital heart disease, chest lungs, digestive tract, urinary tract and other multiple deformities.
Diagnosis
Diagnosis and identification of children's Edwards syndrome
The clinical manifestations of Edwards syndrome are highly variable, and none of the malformations are unique to the 18-trisomy syndrome. Therefore, it is not possible to make a diagnosis based solely on clinical abnormalities. Cell chromosome examination must be performed, and the diagnosis is based on the results of the karyotype analysis. .
Different from other chromosomal aberrations, such as 21-trisomy, 13-trisomy, 8-trisomy, 9-trisomy syndrome, cell chromosome examination can help identify.
