软骨发育不全
医学
儿科
临床试验
重症监护医学
内科学
作者
Tashunka Taylor‐Miller,Ravi Savarirayan
标识
DOI:10.1080/17446651.2024.2390416
摘要
The advent of the first approved precision therapy for achondroplasia in vosoritide has been a paradigm shifting advance for children affected by this condition. In addition to changing their natural growth history, it is hoped that it will decrease their medical complications and enhance functionality. These new treatment options highlight the importance of prompt prenatal identification and subsequent testing of a suspected fetus with achondroplasia and counseling of families. It is hoped that, in the near future, families will have the option to consider a range of effective targeted therapies that best suit their child with achondroplasia, starting from birth should they choose.
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