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小耳畸形合并足裂、中指畸形及躯干咖啡斑:一种新的综合征

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

作者信息

Yu Yan, Hu Jintian, Liu Tun, Cao Yilin, Zhang Qingguo

机构信息

*Department of Burn and Plastic Surgery, Navy General Hospital †Department of Ear Reconstruction, Plastic Surgery Hospital ‡Research Center of Plastic Surgery Hospital, Peking Union Medical College Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing, China.

出版信息

J Craniofac Surg. 2015 Nov;26(8):2385-6. doi: 10.1097/SCS.0000000000002148.

DOI:10.1097/SCS.0000000000002148
PMID:26517464
Abstract

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. 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.

摘要

小耳畸形是一系列先天性畸形。大约一半的患者伴有半侧颜面小耳畸形。小耳畸形的出生率为每10000人中有2至17.4例。如文献所述,小耳畸形有时与肢体畸形同时出现。在本报告中,该患者被发现患有单侧小耳畸形,同时伴有双侧足底裂、双手中指畸形以及躯干咖啡斑。尽管进行了全面的文献检索,但就该病例中所见异常的类型而言,作者仍未能对当前病例做出令人满意的诊断。

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