congenital cranioclavicular hypoplasia
Introduction
Introduction to congenital skull clavicular dysplasia Congenital cranial clavicular dysplasia is a congenital systemic membranous ossification, characterized by cranial parietal and clavicular developmental disorders, which can be affected by multiple bones or single bones. Recent studies have supported the immunological mechanisms of onset, and there are many other immunological theories including poisoning, trace elements, and amino acid metabolic disorders. Some cases have genetic characteristics. The incidence rate in Guam is 50-100 times higher than in other parts of the world, but there is no evidence of environmental toxicants and abnormal diet. basic knowledge The proportion of illness: 0.001% Susceptible people: young children Mode of infection: non-infectious Complications: dwarfism spina bifida
Cause
Congenital cranial clavicle dysplasia etiology
The cause of this disease is unknown, it is autosomal dominant, its candidate gene has been mapped to 6P21, about 2 / 3 has a family history, 1 / 3 is sporadic, there is no significant difference between the sexes, the disease can occur at any age However, the incidence is most pronounced within 2 years after birth.
Prevention
Congenital cranial clavicle dysplasia prevention
The disease is a congenital disease, so there is no effective preventive measure. Early diagnosis and early treatment is the key to the prevention and treatment of this disease. It should also be distinguished from other diseases with similar symptoms in order to give the child correct treatment.
Complication
Congenital cranial clavicular dysplasia complications Complications, dwarfism, spina bifida
The disease will also be associated with dysplasia, severe cases of pygmy, pubic dysplasia, spina bifida and carpal dysplasia, and sometimes combined with muscle abnormalities, such as the front of the deltoid muscle and the trapezius of the trapezius Lack of.
Symptom
Congenital craniocerebral dysplasia symptoms Common symptoms Skull continuity interrupted developmental pelvic abnormalities
The lesions involve a wide range of lesions. In addition to the main involvement of the clavicle and the skull, there may be incomplete pelvic ossification, flattened spinal deformity, lack of attachment or recessive spina bifida, teeth and carpal bones, slow bone calcification, etc. Mainly for large head and small face, shoulder sinking, narrow chest, front passenger, top and lower jaw are relatively large, clavicle can be partially or completely absent, usually symmetrical, sometimes combined with muscle abnormalities, such as the front of the deltoid muscle The clavicle of the trapezius muscle is absent.
Examine
Examination of congenital skull clavicular hypoplasia
The disease is mainly performed by X-ray examination. Some scholars are divided into three categories according to the genetic relationship and the severity of symptoms:
(1) The first type is standard type: there is a family genetic relationship, skull, clavicle, pelvis, etc., and its X-ray performance is typical, such as unilateral or bilateral clavicle part or all absent, skull ossification, pre- The cardia is large, the skull is not closed, sometimes the sternum stem is absent, and the spine is extensive.
(2) The second category is family hereditary: there is a family genetic relationship, but the skull is not tired.
(3) The third category is sporadic: no family genetic relationship.
Diagnosis
Diagnosis and diagnosis of congenital skull clavicular dysplasia
The typical deformity of the head and face and the X-ray film are easy to make a diagnosis.
The X-ray examination method is the main means to diagnose the disease. Because the X-ray signs of the disease have the above specific characteristics, the diagnosis is not difficult. The key is to think of the disease and, if necessary, to distinguish it from the following diseases:
(1) Rickets: The square skull shown by rickets, the delayed closure of the cardia and the pelvic deformation are sometimes similar to the disease, but the former has no clavicular developmental disorder and is rapidly improved by anti-caries treatment.
(2) Cartilage hypoplasia: for the whole body symmetrical cartilage development disorder, the longitudinal growth of the bone is slow, and the lateral growth is normal, so the tubular bone is short and short, the patient is short and the limbs are short, but the membrane bone is not tired.
(3) cretinism: although it is also shown as delayed development of the skull, cranial suture widening, and see the interstitial bone, but no clavicle, ischial, pubic defects and ossification center delay, etc., the child is significantly mentally retarded.
(4) Osteogenesis insufficiency: due to the low internalization of the membrane, sometimes the posterior tibial and cranial suture closure delay, intersegmental bone, etc., but its main manifestations are bone brittle and easy to fold and osteophyte formation, sometimes accompanied by different Degree of blue sclera, hearing impairment, etc.
(5) The clavicular part related to trauma is lack of deformity, etc. This situation will not be difficult to find after asking about the medical history.
