Laurence-Moon-Biedl Syndrome: Report of Two Unrelated Children Less Than 3 Years of Age
Laurence-Moon-Biedl Syndrome: Report of Two Unrelated Children Less Than 3 Years of Age
复制标题
劳伦斯-穆恩-比德尔综合症：两个不相关的 3 岁以下儿童的报告
DOI：
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发表时间：
1973
期刊：
影响因子：
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通讯作者：
G. Hogan
中科院分区：
文献类型：
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作者：
M. Bauman;G. Hogan
两个无关的儿童，不到3岁的Laurence-Moon-Biedl综合征的报告。一些主要和次要的表现，综合征的审查。重点放在诊断的可能性，在婴儿期和儿童期，当一些特征的综合征可能缺乏的时候。早期诊断的意义和遗传咨询的价值，以及更好地记录疾病的自然过程进行了讨论。
Two unrelated children, less than 3 years of age with the Laurence-Moon-Biedl syndrome are reported. Some of the major and minor manifestations of the syndrome are reviewed. Emphasis is placed on the possibility of diagnosis in infancy and childhood, a time when some of the characteristic features of the syndrome may be lacking. The significance of early diagnosis and its value to genetic counseling as well as for better documentation of the natural course of the disease are discussed.