Pulmonary stenosis, café-au-lait spots, and dull intelligence.
Pulmonary stenosis, café-au-lait spots, and dull intelligence.
复制标题
肺动脉狭窄、牛奶咖啡斑和智力迟钝。
DOI：
10.1136/adc.42.223.303
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发表时间：
1967
影响因子：
5.2
通讯作者：
G. H. Watson
中科院分区：
文献类型：
--
作者：
G. H. Watson
在已报道的与多个咖啡斑相关的许多异常中，先天性心脏异常是极其罕见的。本文报告三个家系，这些儿童患有肺瓣膜狭窄，智力迟钝，并有常染色体显性遗传的咖啡斑，如von Reckinghausen病(VRD)。家系A：一名男童(A2)因呼吸困难而出现严重的肺狭窄和咖啡斑；不久后，他的兄弟(A5)因呼吸困难而转诊，发现有严重的肺狭窄和少量的咖啡斑。随后，一位姐姐被发现有三个大咖啡馆，而她们的父亲则有无数个咖啡馆。在B家族的病例中，一名患有肺动脉狭窄和多个咖啡馆斑点的男孩(B2)在发现杂音后被转介；他的母亲和兄弟也有许多咖啡馆斑点。Cl合并严重的肺动脉狭窄和许多Cae-Au-lait斑点是由于呼吸困难的增加，随后发现4个半同胞有少数Cae-Au-lait斑点和肺狭窄；Cafe-Au-lait斑点单独存在于全同胞、半同胞和所有同胞的母亲中。到目前为止，没有其他亲属有咖啡馆斑点或肺狭窄，也没有已知的近亲婚姻。这三个家庭来自不同的城镇，在对方的家乡没有认识的亲戚。这6名父母和他们的14名幸存子女以及其他几名亲属已经接受了身体检查；死亡病例CL和A5几年前就曾出现过，他们的咖啡馆地点和情报的全部细节尚不清楚。那些表现出常见的肺动脉狭窄征兆的人
Of the many abnormalities that have been reported in association with multiple caf&-au-lait spots, congenital cardiac anomalies are extremely rare. The purpose of this paper is to report three families in which there were children with pulmonary valvular stenosis, who were mentally dull and also had cafe-au-lait spots inherited as an autosomal dominant, as in von Recklinghausen's disease (VRD). Family A was encountered when a boy (A2) with severe pulmonary stenosis and many caf&-au-lait spots was seen because of effort dyspnoea; soon afterwards his brother (A5) was referred because of dyspnoea, and was found to have severe pulmonary stenosis and a few cafe-au-lait spots. Subsequently one sister was found to have three large, and their father numerous, cafe-au-lait spots. In the case of family B, a boy (B2) with pulmonary stenosis and multiple cafe-au-lait spots was referred following the discovery of a murmur; his mother and brother also had many cafe-au-lait spots. The referral of Cl, with severe pulmonary stenosis and many cafe-au-lait spots, was due to increasing effort dyspnoea, and subsequently four half-sibs were found to have a few cafe-au-lait spots and pulmonary stenosis; cafe-au-lait spots alone were present in a full sib and a half sib and in the mother of all the sibs. So far as could be determined no other relatives had caf&-au-lait spots or pulmonary stenosis and there were no known consanguineous marriages. The three families came from different towns and had no known relatives in each other's home towns. The 6 parents, and their 14 surviving children, and a few other relatives have been examined physically; the fatal cases Cl and A5 had been seen several years ago and full details of their cafe-au-lait spots and intelligence are not available. Those showing the usual signs of pulmonary stenosis have