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首页> 外文期刊>Clinical dysmorphology >Mild case of Curry-Jones syndrome.
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Mild case of Curry-Jones syndrome.

机译:库里-琼斯综合征轻症。

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摘要

The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel. Developmental delay occurs in half of the reported patients. The patient reported here has a mild form of the condition with polysyndactyly and skin changes but no craniosynostosis, bowel problems or developmental delay.
机译:Curry-Jones综合征的主要特征是:综合征,前轴多指,颅前突,缺乏体,皮肤异常(特征性的珍珠白色区域变得疤痕和萎缩,并随着头发的生长而增加),大肠瘤或小眼症和由于肠梗阻大肠多发性良性肌原纤维。发育迟缓发生在一半的报告患者中。此处报道的患者患有轻度症状,伴有多发性综合征和皮肤变化,但没有颅突肿大,肠道问题或发育迟缓。

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