How to treat children's congenital dwarfism dementia syndrome?
summary
Congenital dwarfism dementia syndrome is also known as Noonan syndrome, Noonan Ehmke syndrome, pseudo Turner syndrome, winged neck syndrome, Turner male phenotype, male Turner syndrome. At present, it is considered to be autosomal dominant inheritance, which has the clinical characteristics of Turner syndrome, accompanied by congenital heart diseases such as pulmonary artery stenosis, atrial septal defect, patent ductus arteriosus and hypertrophic cardiomyopathy, but the chromosome examination is normal. Let's share my experience with you.
How to treat children's congenital dwarfism dementia syndrome?
If it is hormone deficiency, it can be supplemented by continuous therapy or circulatory therapy. The treatment should be started as soon as possible and should be used for a long time according to the need. Patients with cardiovascular malformations should be operated, and patients with complications should be treated symptomatically. So far, there is no effective method.
Premarital physical examination plays a positive role in the prevention of birth defects. The role 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 Cervicitis), general physical examination (such as blood pressure, electrocardiogram), family history of disease and personal history, Do a good job of genetic disease consultation.
Once there are abnormal results, we need to know whether to terminate the pregnancy; The safety of fetus in uterus; Whether there are sequelae after birth, whether it can be treated, and how the prognosis is, etc. To take practical measures for diagnosis and treatment.
matters needing attention
The prognosis of this disease is poor, most of them die in childhood, only a few of them can live to adulthood. The main causes of death were infection, intestinal obstruction and cardiovascular disease. In recent years, the prognosis of hypertrophic cardiomyopathy is poor.
