Pediatric Hemifacial Hypertrophy Syndrome

Brief introduction of facial facial hypertrophy syndrome in children Facial hemi-hyperthyroid syndrome (facialhemihypertrophyyndrome) refers to a group of clinical syndromes characterized by one-sided hypertrophy. The condition is also known as Curtius I syndrome, Steiner syndrome, congenital partial hemifare hypertrophy offace, Friedreich syndrome, ectodermal dysplasia-ocular malformation syndrome (ectodermaldysplasia-ocularmalformationsyndrome). basic knowledge Sickness ratio: 0.001%-0.005% Susceptible people: children Mode of infection: non-infectious Complications: acromegaly epilepsy sciatica

The cause of facial facial hypertrophy syndrome in children

(1) Causes of the disease

The etiology of this disease is unknown and may be related to chromosomal aberrations or abnormalities in embryonic development.

(two) pathogenesis

The pathogenesis of this disease is not yet clear, and there are various theories in the academic world. Some people think that facial hypertrophy is a setback of common hypertrophy. Some people think that it is related to myopathy. Some scholars believe that the disease has similarities with tumors and belongs to a malignant monoclonal proliferation of somatic cells.

Prevention of facial hypertrophy syndrome in children

The cause of the disease is unknown, and reference can be made to the prevention of congenital diseases.

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

2, premarital medical examination. Play a positive role in preventing birth defects, including serological tests (such as hepatitis B virus, treponema pallidum, HIV), reproductive system tests (such as screening for cervical inflammation), general physical examination (such as blood pressure, electrocardiogram), and asking about diseases. Family history, personal medical history, etc., do a good job in genetic disease counseling.

3. Pregnant women should avoid harmful factors as much as possible. Including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals. Systemic birth defect screening is required during antenatal care during pregnancy, including regular ultrasound, serological screening, and, if necessary, chromosomal examination.

4, prenatal. 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, and how the prognosis is.

5. Take practical and feasible diagnosis and treatment measures.

Complications of facial facial hypertrophy syndrome in children Complications, acromegaly, epilepsy, sciatica

1. Abnormal growth and development. A small number of cases may be associated with organ malformation, acromegaly, scoliosis, and pelvic tilt.

2, some patients may be complicated by sciatica due to deformity of the spine.

3, intelligent development is incomplete.

4, the brain can appear abnormal discharge, see seizures.

Symptoms of facial hypertrophy syndrome in children Frequent symptoms One side facial hypertrophy forehead and humerus prominent occlusion relationship disordered long ears big chewing muscle hypertrophy hyperplasia

1. Commonly affected population. This disease is more common in boys, and it is morbid after birth. Some of them are chronic progressive aggravation, and they can naturally stop developing after development.

2, typical features. Patients with multiple facial hypertrophy, accompanied by ipsilateral humerus, skull, upper and lower jaw, ears, cheeks, lips, tongue muscles are hypertrophic hypertrophy, often seen on the right side.

3, oral deformity. It can be seen that there are alveolar enlargement, premature tooth development, giant teeth and misalignment.

4, abnormal skin. Pigmentation, hair hyperplasia and vascular abnormalities may occur on the affected side of the skin.

5, other symptoms. Such as mental development, height and weight, body size, blood pressure, etc. can also be seen abnormal.

Examination of facial facial hypertrophy syndrome in children

(1) Laboratory inspection

Such as blood routine, blood biochemistry, urine routines, etc., but general laboratory tests have no specific findings.

(2) Imaging examination

1, X line. Check for abnormalities such as excessive tines.

2. EEG and ECG examination. Some patients have abnormalities.

3. MRI examination. If necessary, MRI can be done to determine the extent of the lesion, which can provide imaging evidence for treatment.

Diagnosis and differentiation of facial facial hypertrophy syndrome in children

Diagnostic points

1, combined with the characteristic side of the face hypertrophy can be diagnosed, is the basis for early diagnosis.

2, the diagnosis needs to be combined with clinical symptoms, medical history and related laboratory tests.

The disease should be differentiated from asymmetrical body-dwarf-sexual dysplasia, syndrome differentiation and ectodermal dysplasia syndrome.

1. Asymmetry short statue variations in sexual development syndrome, also known as Silver syndrome, Russell-Silver syndrome, congenital side hypertrophy, congenital asymmetry-dwarf-gonad Hormone increase syndrome. This disease is a congenital disease. In addition to half-body hypertrophy and various congenital anomalies, 2/5 cases have low blood sugar at the same time, and 2/3 have renal dysfunction.

2, ectodermal dysplasia (chondroectodermaldysplasia) first reported by Ellis and VanCreveld in 1940, it is often called Ellis-VanCreveld syndrome, mostly in the family of relatives married, has a high incidence, is autosomal recessive, medium Both germ layer and ectodermal tissue are often associated with congenital heart disease.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.