What Is Goldenhar Syndrome?

Pediatric eye-ear-spine syndrome (OAVS), also known as Goldenhar syndrome, mandibular dysplasia-ocular epithelioid cyst syndrome, eye-spine hypoplasia, ear-spine syndrome, eye-ear-spine development Adverse syndrome, facial-auditory-spine disorder, etc. It is a congenital syndrome with eye, ear, face, and spinal deformities as the main clinical symptoms. 60% to 70% of the cases of this syndrome occur in boys, the clinical manifestations of which are complicated, about 10% of the cases are mentally retarded, and most cases show only partial signs.

nickname: Goldenhar syndrome
English name: octllo- auriculo-vertebralspectrllm

Visiting department: Pediatrics
Common symptoms: Facial deformity, ear deformity, etc.

Causes of pediatric oto-spine syndrome

The cause is unknown, and most people think it is mainly congenital. It is also possible that the embryos are deformed due to abnormalities in the blood vessels of the first and second branchial arches and the spine and eyes.

Clinical manifestations of pediatric oto-spine syndrome

Affected population

60% to 70% of the cases of this syndrome occur in boys, and its clinical manifestations are more complicated.

2. Characteristic symptoms

(1) Facial malformations, such as malformations of the jaw, cleft lip, transverse facial fissure, hypoplasia of the sacrum, and uneven tooth arrangement.

(2) Deformity of the ear may include the absence of the accessory ear, anterior ear fistula, and external auditory canal. In severe cases, deafness is also seen.

(3) Corneal dermoma, eyelid defect, ptosis, small cornea and small eyeball, cracked eyes, cataract, etc. can be seen in children with abnormal eye. Congenital corneal dermoma can increase with age. .

(4) The clinical manifestations of spinal deformities are different. The lesions mainly affect the scoliosis of the spine and bone healing. There may also be rib abnormalities, skull deformities, limb and foot deformities. General spinal deformities have obvious clinical features. If the disease is mild or in the early stages of the disease, the characteristic deformity is often recessive and imaging studies are required. X-ray of the child showed thoracic scoliosis and wedge-shaped bone healing.

3. Other symptoms

About 10% of the cases are mentally retarded, but most children show only partial signs. Cardiovascular malformations, abnormalities in lungs, kidneys, teeth, and intelligence are still visible in some children.

Pediatric eye, ear and spine syndrome examination

Laboratory inspection

(1) Routine examination includes blood routine, urine routine, stool routine, etc., which can exclude similar cases caused by some factors. The symptoms are rare.

(2) Histopathological examination Take the pathological section of the deformed tissue to further clarify the pathological changes of the lesion and exclude the deformity caused by the tumor.

(3) Most of the children with chromosome examination are normal, but there are also few visible abnormalities.

2. Imaging examination

(1) Early detection of X-ray detection can detect bone abnormalities in time. X-ray showed that the child had thoracic scoliosis and the bone was healed in wedge shape.

(2) Other tests include echocardiography, electrocardiogram, and electroencephalogram, to rule out possible complications. Examinations such as angiography and MRI can be selected as required.

Diagnosis of pediatric oto-spine syndrome

Initial diagnosis can be made based on the coexisting eye-ear-spine abnormalities. Relevant laboratory tests exclude similar symptoms caused by other factors, such as chromosome tests are normal. The above two points can be combined with history and pathogenesis to make a diagnosis.

Pediatric Eye, Ear, and Spine Syndrome Treatment

There is no effective treatment method, and surgery and symptomatic treatment are the main ones.

Surgical treatment

It is mainly used to repair or correct some deformities that may affect the normal physiological activities and functions of the body, such as corneal dermoidectomy, eyelid defect reconstruction, and cleft lip repair. Although eye surgery does not significantly help improve vision, it still has positive significance for correcting deformities, improving beauty, and balancing psychology. Deaf children should be given hearing aids as early as possible.

2. Medical treatment

Mainly aimed at the complications of this disease, such as cardiovascular disease, kidney deformity, pulmonary edema, etc., it is beneficial to improve the quality of life of children and maintain normal metabolism balance of the body.

3. Psychotherapy

The treatment of children with this disease requires the joint efforts of physicians such as pediatrics, surgery, stomatology, especially psychological guidance treatment, which helps children to treat the disease correctly.

Prevention of pediatric eye, ear and spine syndrome

1. Popularize relevant medical education knowledge and improve people's awareness and prevention of congenital diseases.

2. Pre-marital medical examinations play an active role in preventing birth defects, mainly including serological examinations (such as hepatitis B virus, Treponema pallidum, HIV), reproductive system examinations (such as screening for cervical inflammation), general physical examinations (such as blood pressure, ECG ) And ask family history of the disease, personal past medical history, etc., to do a good job of genetic disease consultation.

3. Pregnant women avoid harmful factors as much as possible. Including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile and 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 examinations, serological screening, etc., and chromosomal examinations if necessary.

4. Once abnormal results occur before birth, you need to determine whether to terminate the pregnancy, the safety of the fetus in the uterus, whether there are sequelae after birth, whether they can be treated, and the prognosis.

5. Take practical measures for diagnosis and treatment.