Skeletal Dysplasia Treatment, Symptoms, Diagnosis, Prognosis: Skeletal dysplasia (SD) is a kind of hereditary disease that affects the composition and structure of bone and cartilage. The clinical manifestations are abnormal growth and development of various types of bone tissue, such as short stature, joint dislocation, head and limb deformities, and spinal curvature. Skeletal Dysplasia Treatment, Symptoms, Diagnosis, Prognosis. Degree abnormalities, changes in bone density, etc., sometimes combined with other system malformations. In 1986, Stoll et al. reported that the prevalence of SD was about 3/10000 through epidemiological statistical analysis and previous studies. It is suggested that ultrasound is a feasible method for Prenatal Diagnosis. Skeletal Dysplasia Treatment, Symptoms, Diagnosis, Prognosis
Tabel Of content:
Skeletal Dysplasia Symptoms
Skeletal Dysplasia Diagnosis
Skeletal Dysplasia Treatment
Prognosis of Skeletal dysplasia
1: Skeletal Dysplasia Symptoms
Patients often have skeletal malformations in different parts of the body, clinical phenotype is different, with dysplasia and osteogenesis imperfecta are the most common types. The general symptoms are short stature, joint dislocation, deformity of the skull and limbs, abnormal curvature of the spine, and changes in bone density. The condition is sometimes mild and can be severe enough to spontaneous abortion before birth. However, most of them develop rapidly during the developmental stage, and the condition is severe, and another organ dysfunction is combined. At present, SD is classified into 436 species and 42 categories according to its known molecular genetic basis, etiology and phenotype, among which collagen production is poor (Stickler syndrome, Weissenbacher. Zwey. muller syndrome), cognac Terminal dysplasia, osteogenesis imperfecta and decreased bone density, poor lysosomal storage (mucopolysaccharidosis), and fibrillation growth factor receptor 3 (FGFR3) gene-related dysplasia are common types.
2: Skeletal Dysplasia Diagnosis
In the examination and diagnosis, in addition to the evaluation of clinical symptoms, imaging examinations such as X-ray films (usually used for preliminary imaging of long bones, hands, feet, skull, thoracic cavity, sacral column, pelvis), magnetic resonance imaging, Computerized tomography and the like are all tools for assisting diagnosis. In addition, depending on the type of disease, related genetic tests, such as full exome sequencing (WES), can also be performed. ‘Skeletal Dysplasia Treatment, Symptoms, Diagnosis, Prognosis’
3: Skeletal Dysplasia Treatment:
There is no specific treatment for this disease, and for some non-fatal types, surgical intervention (such as artificial hip joint) has proven to be effective.
4: Prognosis Of Skeletal Dysplasia
Although certain types of skeletal dysplasia are fatal, these types of SD-caused causes of pulmonary dysfunction caused by thoracic developmental disorders can also be seen in hearing and visual impairment. “Skeletal Dysplasia Treatment, Symptoms, Diagnosis, Prognosis” However, patients with general skeletal dysplasia usually have a normal lifespan.