Pediatric clavicle cranial hypoplasia syndrome
Introduction
Introduction to pediatric clavicular skull hypoplasia syndrome The ciliacralial dysostosis syndrome is Marie-Sainton syndrome, also known as Hulkerantt dysplasia, Schenthaurer syndrome. Cranial dysplasia is characterized by poor ossification of the internalized membrane, mainly in the clavicle, skull and pelvis. However, cartilage internalization bone will also have some effects. The sick child has a mild gnome performance. basic knowledge The proportion of illness: the incidence rate of infants and young children is about 0.01% Susceptible people: children Mode of infection: non-infectious Complications: fracture
Cause
Pediatric clavicle dysplasia syndrome etiology
Causes:
The disease is a primary ossified disease of the affected bone. Ossification occurs in childhood, is autosomal dominant, and there are spontaneous cases. The skull, hand, and pelvis may have a slow ossification trend. Have osteopetrosis.
Pathogenesis:
This malformation is autosomal dominant. The gene associated with hypoplasia is 6p21. This gene has been cloned, called CBFAl, and is a regulator of osteoblast-specific transcription factors and osteoblast differentiation.
Prevention
Pediatric clavicle dysplasia syndrome prevention
Pay more attention to living habits, or focus on treatment, early detection and early treatment. Avoid old age: the childbearing age is best not to exceed 35 years old, because the aged women's cells are aging, susceptible to external virus infection, individuals formed after fertilization are prone to chromosomal diseases.
Genetic counseling: older mothers, family history of genetic diseases, carriers of chromosomal aberrations, couples with a history of birth defects, history of multiple abortions, and history of exposure to radioactive elements should consult a doctor before deciding to become pregnant.
Complication
Pediatric clavicle dysplasia syndrome complications Complications
Accompanied by kyphosis, scoliosis or lordosis, spina bifida and other skeletal deformities. There are often pathological fractures. See also reported epilepsy, schizophrenia, mental retardation.
Symptom
Symptoms of clavicular skull hypoplasia syndrome in children Common symptoms Skull continuity interrupted cartilage dysplasia and... Tumor closed late sag shoulder high sacral arch face size is not a hip varus eye wide wide short head deformity shoulder joint activity restricted
There is a family history and there are also spontaneous people. The deformity under 2 years old is the most obvious and easy to diagnose. The typical signs are big heads, small faces, and strange expressions. The clavicle has varying degrees of hypoplasia, causing abnormal movements in the shoulders. Nervous system and cardiovascular system symptoms can be caused by clavicular disability.
The sternal or shoulder peaks of one or both clavicles are clearly visible. It is rare to see that the clavicle is completely absent. When there are lesions on both sides, the shoulders can be placed on the chest, and the shoulders and the ankles are in contact. The affected shoulder blade is small and wing-shaped. Sometimes there is a subluxation of the humeral head.
Shoulder drooping and narrow chest. Clavicular defects are often accompanied by muscle abnormalities, such as the absence of the anterior fibers of the deltoid muscle or the clavicle of the trapezius. Brachial plexus can cause pain and numbness due to damaging clavicle stimulation, occasionally complicated with syringomyelia, skin and soft tissue calcification.
Abnormal head development (short head deformity). In children and adults, there are still some left-skin sutures that are not completely closed and have small bones and poor development. Often pygmy, the mastoid air chamber is absent or small. There may be too far eye distances. The ossification of the skull is not complete, but the skull base is normal.
The suture is delayed or cannot be closed. The anterior cardia is enlarged, sometimes reaching the upper iliac crest. The sputum of some sick children until the adult is still not closed. "Tricks" also appear in the sphenoid and mastoid parts. Most of the severe cranial tops cannot be ossified. The frontal sinus and paranasal sinus are small or absent, and occasionally the frontal sinus is particularly enlarged.
The nasal bone, tear bone and tibia are partially or completely absent. Poor maxillary development. The mandible is normal, but does not fuse in the mandibular joint. The head is short and the distance between the two eyes is widened. The zygomatic arch is tall and narrow, and the lower jaw has a convex deformity. The deciduous teeth grow normally.
Permanent teeth grow delayed and have dysplasia. Such malformations are often accompanied by unilateral or bilateral hip varus and short femoral neck. The nerve arches of the thoracic and lumbar spine are not connected. The thorax is also deformed due to rib tilt and sternal stem defects. Sometimes complicated by scoliosis, increased cervical transverse process and spondylolisthesis.
It has been reported that 24% of the children with spondylolisthesis can reach the disease. The ossification of both sides of the pelvis is abnormal, the pubic symphysis is wide, and sometimes the ankle joint is also widened. Pelvic malformation does not affect the delivery of the fetus. The carpal bone and tibia are slow to ossify.
Examine
Examination of pediatric clavicular skull hypoplasia syndrome
General blood, urine, and stool routine examinations are normal.
1. X-ray examination: the sternum end or shoulder peak of one or both sides of the clavicle is missing. The sides of the clavicle are completely absent, and the shoulders can be placed on the chest and the ankle. The affected shoulder blade is small and wing-shaped. Sometimes there is a subluxation of the humeral head.
This disease is often accompanied by unilateral or bilateral hip varus and short femoral neck.
2. EEG examination: abnormal brain waves can occur in people with epilepsy.
Diagnosis
Diagnosis and differential diagnosis of clavicular dysplasia syndrome in children
The body is short, the cardia retreats, should be differentiated from the rickets, the laboratory results of this disease without rickets and the characteristic changes of X-ray metaphyseal rickets, supplementation with vitamin D and calcium therapy can help identify.
