Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?
Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?
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桡骨发育不全、皮肤异色症和自身免疫性小肠结肠炎——新综合征还是罗斯蒙德-汤姆森综合征的严重形式？
DOI：
10.1097/00019605-200009020-00001
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发表时间：
2000
影响因子：
0.7
通讯作者：
R. Winter
中科院分区：
文献类型：
--
作者：
Y. Hilhorst;Neil Shah;D. Atherton;J. Harper;P. Milla;R. Winter
在三个孤立的患者中描述了一种综合征，其主要特征是双侧放射状发育不全、身材矮小、基于炎症的“弹性”幽门狭窄、似乎是由于自身免疫过程引起的全肠道炎症性肠道疾病和异位症。个别病例的其他特征包括腭裂、小颌畸形、肛门闭锁、髌骨发育不全/发育不全和感音神经性耳聋。这种组合可能代表了严重的Rothmund-Thomson综合征或可能是以前未被认识到的疾病。
A syndrome is described in three isolated patients in whom the main features are bilateral radial aplasia, short stature, an inflammatory based 'elastic' pyloric stenosis, a pan-enteric inflammatory gut disorder that appears to be due to an autoimmune process, and poikiloderma. Other features in individual cases include cleft palate, micrognathia, anal atresia, patellar aplasia/hypoplasia and sensorineural deafness. This combination may represent a severe form of Rothmund-Thomson syndrome or possibly a previously unrecognized condition.