craniofacial deformities
Introduction
Introduction Hallermann-Streiff syndrome is also known as HS syndrome. The symptoms are characterized by head deformity, congenital cataract, and hair thinness. This disease is often accompanied by other malformations, such as spinal deformity, osteoporosis, symmetrical gnome, mental retardation and so on.
Cause
Cause
(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.
Examine
an examination
Related inspection
Cranial CT examination X-ray cephalometric measurement of skull base slice head flat head skull positive lateral slice
1. Head dysplasia: at birth, there are scapular heads, triangular heads, short heads and other deformities, and some may have open cardia, sagittal and herringbone sulcus and brain hypoplasia, narrow face, olecranon, Small mandibular, small cracks in the mouth, abnormal auricles, etc., it is also known as the bird face deformity syndrome.
2. Eye deformity: characteristic lesions of congenital cataract, mostly bilateral, spontaneous rupture and absorption. It can also be free of lens. Secondly, strabismus, nystagmus, small eyeball, small cornea, blue sclera, iris defect, macular degeneration, etc. may also occur.
3. Hair and skin abnormalities: sparse and absent eyebrows, eyelashes, manes, pubic hair, etc., pillow, forehead baldness. It can cause sclerosing atrophic skin changes, often skin atrophy, rough, white spot disease, vitiligo and so on.
The symptoms are diagnosed according to three major characteristics: craniofacial deformity, congenital cataract, and hair thinness. Conventional laboratory tests generally have no specific findings. X-ray, B-ultrasound and brain CT examination should be done. X-ray films showed that the mandibular joint was displaced forward (obviously up to 2 cm), the mandibular bone was sparse, and the condyle completely disappeared.
Diagnosis
Differential diagnosis
The symptoms must be differentiated from cretinism, and the serum T3, T4, and TSH are in the normal range. It must also be differentiated from childhood premature aging syndrome.
Mental retardation is a common manifestation of sporadic cretinism and endemic cretinism, while endemic cretinism is more severe and can be idiotic. From childhood, the sick child showed low mental retardation, sluggish expression, and unresponsiveness. The growth and development are backward, the body is short, the upper body is longer and the lower body (legs) is shorter, and the body shape is not uniform. Exercise development is also slow. Hair is sparse, thick, brittle, and dull. Visible special face: low nose roots, widened eye distance, small eyelids, thin eyebrows, thick lips, thick tongue, wide, thick, often sticking out of the lips.
Pediatric premature aging: The general performance of the sick child is generally normal within a few months after birth. However, if you look back at the newborn, there are many cases of hard swelling, mild facial cyanosis, and a sharp nose. Growth and development are slightly worse in the first year, and are obviously slow from the second year, and gradually appear typical face, hair loss, subcutaneous fat disappearance, abnormal posture, joint stiffness, skin and bone changes, etc., but intellectual and motor function development normal.
The characteristic change is: body length and body weight are significantly lower than normal, about 10 years old is still the length of children aged 4 to 5 years old, the relative body weight is more obvious than the body length; the subcutaneous fat is gradually thinner, the whole body is thin, and the fat layer of the cheek disappears. Only the subcutaneous fat in the upper part of the pubic bone is left; because the facial bone and the mandible are particularly small, the skull and the forehead are relatively large. Eyes are small, so the eyes are prominent, the nose is prominent and pointed; the ear is often deformed, the ears are erected forward, lacking earlobe; the lips are thin, similar to the bird's face; the hair loss starts from the occiput, until 3 to 5 years old All the light is removed, the eyebrows and eyelashes can also fall off; the scalp veins are swelled; the milk teeth and the permanent teeth are delayed in development, and they fall off very early, and the teeth are deformed. The ratio of limbs to trunk is normal, the clavicle is incomplete, especially short, the joints are relatively thick and stiff, the fingers are flexed, the fingers and toenails are often atrophied, and the distal phalanx is very short. The skin is thin and dry, wrinkled, and brown age spots appear. The lower abdomen, the proximal thigh and the buttocks are hard and swollen. The superficial blood vessels of the extremities are thick and revealed, especially the radial artery and the dorsal vein of the hand. The voice is sharp and thin.
Blood pressure rises significantly after 5 years of age, and the heart gradually enlarges, sometimes with angina, myocardial infarction or cerebrovascular accident. Kidney stones can also occur and cause acute abdominal pain. The gait is like an old man. When walking, the foot is dragged to the ground and cannot be raised.
1. Head dysplasia: at birth, there are scapular heads, triangular heads, short heads and other deformities, and some may have open cardia, sagittal and herringbone sulcus and brain hypoplasia, narrow face, olecranon, Small mandibular, small cracks in the mouth, abnormal auricles, etc., it is also known as the bird face deformity syndrome.
2. Eye deformity: characteristic lesions of congenital cataract, mostly bilateral, spontaneous rupture and absorption. It can also be free of lens. Secondly, strabismus, nystagmus, small eyeball, small cornea, blue sclera, iris defect, macular degeneration, etc. may also occur.
3. Hair and skin abnormalities: sparse and absent eyebrows, eyelashes, manes, pubic hair, etc., pillow, forehead baldness. It can cause sclerosing atrophic skin changes, often skin atrophy, rough, white spot disease, vitiligo and so on. The symptoms are diagnosed according to three characteristics: craniofacial deformity, congenital cataract, and hair thinness.
Routine laboratory tests generally have no specific findings. X-ray, B-ultrasound and brain CT examination should be done. X-ray films showed that the mandibular joint was displaced forward (obviously up to 2 cm), the mandibular bone was sparse, and the condyle completely disappeared.
