Pediatric craniofacial deformity syndrome

Introduction to pediatric craniofacial deformity syndrome Hallermann-Streiffsyndrome (Hallermann-Streiffsyndrome) is also known as HS syndrome, mandibular, eye, face, skull hypoplasia syndrome, mandibular, eye, facial, skull hypoplasia, hair thinning syndrome (dyscephaliaoculomandibularis-hypotrichosissyndrome), head Mandibular and ocular malformation syndrome, congenital cataract bird face deformity syndrome, congenital cataract and azoract syndrome (cataractacongenitahyporichosis syndrome, Ulllieh-Fremety-Dohna syndrome, Frangois syndrome, Audry syndrome type I, Fremery-Donhna Syndrome, etc. The disease is characterized by a deformity of the head, congenital cataract, and sparse hair. basic knowledge The proportion of illness: 0.00035% Susceptible people: children Mode of infection: non-infectious Complications: Osteoporosis, mental retardation

The cause of craniofacial deformity syndrome in children

(1) Causes of the disease

The cause of this disease is unknown.

(two) pathogenesis

Craniofacial malformation syndrome may be autosomal recessive, associated with the use of certain teratogenic substances or viral infections during pregnancy, or for the development of the frontal lobe of the fetus at 5 to 7 weeks.

Prevention of craniofacial deformity syndrome in children

With reference to congenital disease prevention methods, prevention should be carried out from pre-pregnancy to prenatal:

1. The pre-marital medical examination plays a positive role in preventing birth defects. The size 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 ask 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 including 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. This includes regular ultrasound examinations, serological screening, etc., and if necessary, a chromosomal 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.

Complications of craniofacial deformity syndrome in children Complications Osteoporosis mental retardation

This disease is often accompanied by other malformations, such as spinal deformity, osteoporosis, symmetrical gnomes, and mental retardation.

Symptoms of craniofacial deformity syndrome in children Common symptoms Craniofacial deformity Hair scarce Small eyeball nystagmus Fetal alcohol affection Trigeminal head malformation Iris defect Skull base malformation Cranial suture premature closure

1. Head dysplasia at birth, there are scapular heads, triangular heads, short heads and other deformities, and some may have open sacral, sagittal and herringbone sulcus and brain hypoplasia, narrow face, olecranon, small The mandible, small cracks in the mouth, abnormal auricles, etc., it is also known as the bird face deformity syndrome.

2. Eye malformation Congenital cataract characteristics, mostly bilateral, spontaneous rupture and absorption, or no lens, followed by strabismus, nystagmus, small eyeball, small cornea, blue sclera, iris defect, Macular degeneration and so on.

3. Hair and skin abnormal eyebrows, eyelashes, mane, pubic hair and other sparse and absent, pillow, forehead baldness, can occur sclerosing atrophic skin changes, often skin atrophy, rough, white spot disease, vitiligo, etc. .

Examination of craniofacial deformity syndrome in children

Routine laboratory tests generally have no specific findings.

X-ray, B-ultrasound and brain CT examination should be performed. The X-ray film shows that the mandibular joint is displaced forward (obviously up to 2 cm), the mandibular bone is sparse, and the condyle completely disappears.

Diagnosis and diagnosis of craniofacial deformity syndrome in children

The symptoms are diagnosed according to three major characteristics: craniofacial deformity, congenital cataract, and hair thinness.

The disease must be differentiated from cretinism. The serum T3, T4, and TSH of the disease are in the normal range, and must be differentiated from the childhood premature aging syndrome.

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