Microtia Combined With Split Sole of Feet, Deformed Middle Fingers and Cafe-au-lait Spots on the Trunk: A New Association

Microtia Combined With Split Sole of Feet, Deformed Middle Fingers and Cafe-au-lait Spots on the Trunk: A New Association
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小耳症与脚底裂开、中指变形和躯干上的牛奶咖啡斑相结合:一个新的关联

DOI:
10.1097/scs.0000000000002148
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发表时间:
2015
影响因子:
0.9
通讯作者:
Zhang Qingguo
Zhang Qingguo
中科院分区:
医学4区
文献类型:
--
作者:
Yu Yan;Hu Jintian;Liu Tun;Cao Yilin;Zhang Qingguo

文献摘要

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侏儒症是一系列先天性畸形。大约一半的患者伴有面瘫。小婴儿的出生率从万分之二到万分之17.4不等。如文献所述,小体畸形和肢体畸形有时同时发生。在本报告中,患者被发现单侧小耳症合并双侧脚掌裂,双手中指畸形,躯干有驼背斑疹。尽管进行了彻底的文献检索,但作者无法对当前病例的异常类型做出令人满意的诊断。
Microtia is a spectrum of congenital deformities. Approximately, half of the patients are associated with hemifacial microtia. The birth rate of microtia ranges from 2 per 10,000 to 17.4 per 10,000. 1 Microtia and limb deformities sometimes occurred simultaneously as described in the literature. In this report, the patient was found to be with unilateral microtia combined with bilateral split sole of feet, deformed middle fingers on both hands, and café-au-lait spots on the trunk. Despite a thorough literature search, the authors could not achieve a satisfactory diagnosis for the current case with respect to the type of anomalies seen in the case.