(弗里曼-谢尔顿综合症)。

V Guzzanti, R M Toniolo, A Lembo
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引用次数: 0

摘要

作者报告了两例弗里曼-谢尔登综合征,以隐性常染色体遗传为特征,影响了一对由非血缘关系的父母所生的兄弟姐妹。文献中描述了50例这种综合症,它的名字来自于1938年第一个描述它的作者。典型的图像是基于涉及颅骨、面部和运动器官的先天性畸形,受影响的对象的特定方面与他或她的表情有关,类似于吹口哨的人(“吹口哨的脸”,Burian, 1963)。除了对该综合征的描述及其传播方式外,作者还报道了与运动器官和手术类型相关的矫形学方面的问题。
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[The Freeman-Sheldon syndrome].

The authors report two cases of Freeman-Sheldon syndrome, characterised by recessive autosomic transmission, affecting a brother and a sister born of parents who were not blood relations. The syndrome, for which 50 cases are described in the literature, takes its name from the authors who were the first to describe it in 1938. The typical picture is based on congenital deformity involving the cranium, the face and the locomotor apparatus, with a particular aspect of the subject affected related to his or her expression, resembling that of someone whistling ("whistling face", Burian, 1963). In addition to the descriptive aspect of the syndrome and to the means of its transmission, the authors report orthopaedic aspects concerning the locomotor apparatus and problems related to the type of surgery performed.

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