Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata
Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata
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DOI：
10.1001/archotol.130.12.1423
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发表时间：
2004-12-01
影响因子：
--
通讯作者：
Lin, SY
中科院分区：
文献类型：
--
作者：
Wolpoe, ME;Braverman, N;Lin, SY
X连锁隐性形式的点状软骨发育不良，以软骨发育不良和软骨点状钙化为特征，是由维生素K依赖性酶芳基硫酸酯酶E缺陷引起的。我们在此描述一个男婴，患有点状软骨发育不良，整个气管和主支气管狭窄和钙化。据我们所知，这是第一例点状软骨发育不良报告在英语文献中，这种广泛的气道表现。
The X-linked recessive form of chondrodysplasia punctata, characterized by chondrodysplasia and punctate calcification of cartilage, is caused by a defect in the vitamin K-dependent enzyme arylsulfatase E. We herein describe a male infant with chondrodysplasia punctata and stenosis and calcification of the entire trachea and main bronchi. To our knowledge, this is the first case of chondrodysplasia punctata reported in the English literature with such extensive airway manifestations.