Pediatric eye-ear-spine syndrome
Introduction
Introduction to Pediatric Eye-Ear-Spine Syndrome Eye-ear-spine syndrome, also known as ear-spine syndrome, eye-ear-spine dysplasia syndrome, mandibular bone dysplasia-eyeball epithelioid cyst syndrome, eye-spine hypoplasia, face-listen-spine Abnormalities, Goldenhar syndrome, etc., are congenital syndromes with eye, ear and face, and spinal deformity. basic knowledge The proportion of illness: 0.0006% Susceptible people: children Mode of infection: non-infectious Complications: spinal deformity
Cause
Pediatric eye-ear-spine syndrome etiology
(1) Causes of the disease
The cause of this syndrome is unknown.
(two) pathogenesis
Two cases reported by Henkincl are cousins and congenital keratoderma-like tumors. Zhang Huan reported that 2 cases of congenital keratoderma-like tumors with epithelial growth, so it is speculated that the occurrence of this disease may be related to genetic factors, Gao Baoqing 1 case was reported, the signs were complete but the chromosome examination was normal. In 1987, 5 cases were reported in Zhou Dao, and there was no family history of congenital inheritance. It may be the first and second zygomatic arch and the vascular abnormalities caused by the vertebral and ocular diseases. deformity.
Prevention
Pediatric eye-ear-spine syndrome prevention
With reference to the prevention of congenital diseases, prevention should be carried out from pre-pregnancy to prenatal:
1. Premarital medical examination plays an active role in preventing birth defects: the size of the effect depends on the examination items and contents, mainly including serological examination (such as hepatitis B virus, treponema pallidum, HIV), reproductive system examination (such as screening for cervical inflammation) ), general physical examination (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.
2. 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.
Complication
Pediatric eye-ear-spine syndrome complications Complications spinal deformity
With a variety of deformities, such as the spine, face deformity, cardiovascular and lung, kidney deformity and so on.
Symptom
Pediatric Eye-Ear-Spine Syndrome Symptoms Common Symptoms Orbital Malformations Teeth Crowded Dislocations Misaligned Facial Malformation Corneal Capsules Ups and Downs Thoracic Vertebrae Curvature Giants Lips and Ears Eccentric Eyes
60% to 70% of cases of this syndrome occur in boys, and their clinical manifestations are more complicated. About 10% of cases are mentally retarded, while most cases show only partial signs. The main signs are as follows.
1. Eyes: corneal dermatomas, eyelid defects, ptosis, small cornea and small eyeballs, squinting, cataracts, etc.
2. Ears: There are deputy ears, fistulas in front of the ear, deafness and lack of external auditory canal.
3. Facial deformity: such as small deformity, rabbit lips, giant mouth (cheek transverse crack), humeral hypoplasia, uneven teeth and so on.
4. Spinal deformity: manifested as a variety of side bends and bone healing, but also rib abnormalities, skull deformities, limb and foot deformities.
5. Others: There may be cardiovascular malformations, lungs, kidneys, teeth and intelligence abnormalities.
Five cases reported by Zhou Dao were all born at birth, including 4 males and 1 female, aged 4 to 20 years old. All of them had congenital keratoderma-like tumors, which increased with age, and 3 cases. Upper eyelid defect, 2 cases of small eyeball, small cornea, 1 case of occult eye malformation and no normal structure in the eye, 2 cases of anterior ear auricular deformity, 1 case of congenital fistula in front of the ear and deafness, 1 case of central part of the nose Scars, scars about 18mm long, another case of nasal deformity, X-ray see thoracic scoliosis, bones wedge-shaped healing, in addition to mental retardation, forehead protrusion, rabbit lips, cleft palate, irregular teeth, etc., cornea Histopathological examination of surface neoplasms confirmed keratoconus.
Examine
Pediatric eye-ear-spine syndrome examination
Chromosomal examination should be performed for general routine examination and histopathological examination.
X-ray, echocardiography, electrocardiogram, EEG, etc. should be performed, and angiography, MRI, etc. can be selected as needed.
Diagnosis
Diagnosis and diagnosis of pediatric eye-ear-spine syndrome
According to the abnormal signs such as the eye-ear-spinal column, the diagnosis is performed, and the chromosome examination is normal.
Should be noted with Treacher-Collins syndrome and other identification.
