THE NANCE-HORAN SYNDROME

THE NANCE-HORAN SYNDROME
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DOI:
10.1136/jmg.27.10.632
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发表时间:
1990-10-01
影响因子:
4
通讯作者:
NICOLL, A
NICOLL, A
中科院分区:
医学1区
文献类型:
--
作者:
WALPOLE, IR;HOCKEY, A;NICOLL, A

文献摘要

被引文献

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1974年,Nance等人和Horan和Billson描述了一种罕见的X染色体连锁先天性白内障,其独特之处在于显著的相关牙齿特征。早期关于所谓的“Nance-Horan综合征”的报道可能是不完整和模糊的,在过去的二十年里,只有另外三个家族被描述过。货车Dorp和Delleman 3能够证实和扩大眼科和面部表现的临床描述,Bixler等人表明,女性携带者的牙齿和眼科特征可能比以前认识到的更严重。我们报告一个家庭(图1,表)谁进一步说明南斯-
In 1974 Nance et all and Horan and Billson2 described a type of uncommon X linked congenital cataract, distinctive because of the striking associated dental features. Possible earlier reports of the so-called'Nance-Horan syndrome'are incomplete and vague, and only a further three families have been described in the past two decades. Van Dorp and Delleman3 were able to confirm and broaden the clinical description of the ophthalmological and facial manifestations and Bixler et aP showed that the dental and ophthalmological features in female carriers could be more severe than previously recognised. We report a family (fig 1, table) who further illustrate the Nance-