Health encyclopaedia - Alphabetical Topic List健康百科全书-按字母顺序排列的主题清单

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Diagnosis of Restricted growth诊断限制增长

A diagnosis is made on the basis of information gathered from examination of the patient, in addition to family history and results of tests.  However, Proportionate Short Stature may not be noticeable until childhood or adolescence, when growth patterns start to show delay.  The conditions responsible for Disproportionate Short Stature are sometimes diagnosed at birth, but in some people may only be evident later in life.  For example, the genetic condition pseudoachondroplasia, which is frequently detected in children of around three years old; and Morquio disease, which results in severely short stature but usually does not become apparent until the age of 18 months.诊断是根据所收集的资料,从考试的病人中,除了家庭的历史和测试结果,不过,短期相称的地位可能不显着,直到童年或青春期时,增长模式开始显示延误。条件负责不成比例的身材矮小,有时诊断在出生时,但在有些人可能只是明显的在生命后期。举例来说,遗传条件pseudoachondroplasia ,这是经常发现,在儿童约3岁; morquio的疾病,结果在严重身材矮小,但通常不会显现,直到18岁以下的个月。

Prenatal diagnosis may be offered to parents with a genetic history of some syndromes.  This is likely to involve chorionic villus sampling at around 10 weeks of pregnancy, and/or amniocentesis between 16 and 20 weeks.产前诊断可提供给家长,与遗传的历史,一些综合征,这是可能涉及绒毛取样约10个星期怀孕,和/或羊膜穿刺术介乎16至20周。

Chromosomal analysis through blood tests is also available in some cases.  Urine tests can determine enzyme deficiency disorders.  Biopsies and X-rays can help to diagnose abnormalities in bone growth and/or body tissues, such as skin or bone marrow.染色体分析,通过血液测试,也可在某些情况下。尿液测试才能确定酶失调症。活检和X光检查,可以帮助诊断异常的骨生长和/或身体组织,如皮肤或骨髓。