A case of Coffin-Siris syndrome [Coffin-Siris-syndrom. Fallbericht]

被引：0
作者：
Krebs P. [1 ,2 ]
Wieacker P. [1 ]
机构：
[1] Institut für Humangenetik, Otto-von-Guericke-Universität
来源：
Monatsschrift Kinderheilkunde | 1998年 / 146卷 / 6期
关键词：
Coffin-Siris syndrome; Fifth digit syndrome; Mental retardation;
D O I：
10.1007/s001120050298
中图分类号：
学科分类号：
摘要：
Background: Main features of the Coffin-Siris syndrome are mental retardation and absent or hypoplastic nails of the fifth fingers and toes. Further symptoms are wide mouth with prominent lips, sparse scalp hair, and hypertrichosis. Case: We report on a 6-year-old girl with mental retardation and clinical features compatible with Coffin-Siris syndrome.
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页码：594 / 596
页数：2
相关论文
共 6 条
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