唐氏综合征与全科医生
Down's syndrome and the general practitioner.
作者信息
Howells G
出版信息
J R Coll Gen Pract. 1989 Nov;39(328):470-5.
Abstract
People with Down's syndrome form a heterogeneous group sharing a single constant feature--an extra chromosome. This paper reviews the many clinical problems associated with Down's syndrome and emphasizes the prevention of secondary handicapping conditions. Current policies on antenatal screening for Down's syndrome are discussed. The review draws attention to the need for general practitioners to see themselves as part of a network of community services providing support to people with Down's syndrome and their families.
摘要
唐氏综合征患者构成了一个具有单一恒定特征——一条额外染色体的异质群体。本文回顾了与唐氏综合征相关的诸多临床问题，并强调了对继发性残疾状况的预防。文中讨论了目前关于唐氏综合征产前筛查的政策。该综述提请注意，全科医生需要将自己视为为唐氏综合征患者及其家庭提供支持的社区服务网络的一部分。
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本文引用的文献
1
The eyes in mongolism.唐氏综合征患者的眼睛。
Br J Ophthalmol. 1949 Mar;33(3):131-74. doi: 10.1136/bjo.33.3.131.
2
MONGOLISM (DOWN'S SYNDROME) AND KERATOCONUS.先天愚型（唐氏综合征）与圆锥角膜
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The lacrimal proteins in Down's syndrome (Mongolism).
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The mortality from leukaemia and other cancers among patients with Down's syndrome (mongols) and among their parents.唐氏综合征（先天愚型）患者及其父母中白血病和其他癌症的死亡率。
Br J Cancer. 1962 Jun;16(2):177-86. doi: 10.1038/bjc.1962.20.
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6
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy.妊娠早期绒毛膜绒毛样本的高效直接染色体分析和酶测定。
Hum Genet. 1983;63(4):349-57. doi: 10.1007/BF00274761.
7
Paternal age and Down's syndrome: data from prenatal diagnoses (DFG).父亲年龄与唐氏综合征：来自产前诊断的数据（德国研究基金会）
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8
Chronic upper airway obstruction and pulmonary hypertension in Down's syndrome.唐氏综合征中的慢性上气道阻塞与肺动脉高压
Am J Dis Child. 1981 Nov;135(11):1050-2. doi: 10.1001/archpedi.1981.02130350050016.
9
Down's syndrome: a modern otorhinolaryngological perspective.唐氏综合征：现代耳鼻咽喉科视角
Laryngoscope. 1981 Oct;91(10):1581-94. doi: 10.1288/00005537-198110000-00001.
10
Facial plastic surgery in children with Down's syndrome.唐氏综合征患儿的面部整形手术
Plast Reconstr Surg. 1980 Sep;66(3):337-45.
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