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弗里曼-谢尔顿综合征:一例报告。

Freeman-Sheldon syndrome: a case report.

作者信息

Aren Gamze, Yurdabakan Zuhal, Ozcan Ilknur

机构信息

Department of Pedodontics, Faculty of Dentistry, University of Istanbul, Istanbul, Turkey.

出版信息

Quintessence Int. 2003 Apr;34(4):307-10.

Abstract

Freeman-Sheldon syndrome, also called "whistling-face syndrome," is a very rare genetic condition, occurring both sporadically and by transmission through autosomal dominant or recessive mode, which affects primarily the face and skeleton. Characteristics include microstomia of the mouth, which gives the person a whistling appearance, a flat face, club feet, contracted joint muscles of the fingers and hands, and underdeveloped nose cartilage. This article describes a case of Freeman-Sheldon syndrome in a 10-year-old male. The most apparent deformities are associated with orofacial and skeletal development.

摘要

弗里曼-谢尔登综合征,也称为“吹口哨脸综合征”,是一种非常罕见的遗传性疾病,可散发出现,也可通过常染色体显性或隐性模式遗传,主要影响面部和骨骼。其特征包括嘴巴呈小口畸形,使人看起来像在吹口哨,面部扁平,足内翻,手指和手部关节肌肉挛缩,以及鼻软骨发育不全。本文描述了一名10岁男性患弗里曼-谢尔登综合征的病例。最明显的畸形与口面部和骨骼发育有关。

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