The feet in Pfeiffer's syndrome
The feet in Pfeiffer's syndrome
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DOI：
10.1097/00001665-199801000-00018
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发表时间：
1998-01-01
影响因子：
0.9
通讯作者：
Hayward, RD
中科院分区：
文献类型：
--
作者：
Anderson, PJ;Hall, CM;Hayward, RD
广泛的脚趾是典型的临床发现发生在脚的普发综合征患者，但很少有案件进行正式的放射评估。然而，由成纤维细胞生长因子受体2基因突变引起的其他颅缝早闭综合征的足部存在异常;在足部的许多其他部位，这增加了除了足部宽大的大脚趾之外还可能存在更广泛异常的可能性菲佛综合征患者。本研究的目的是前瞻性地评估确诊为普发弗综合征患者足部临床和影像学异常的发生率和模式。22例Pfeiffer综合征患者进行了临床和放射学检查的异常的脚。临床表现为宽大趾12例，并指2例。足部的X光片由对骨骼发育不良感兴趣的放射科医生以及颅面团队的成员进行评价。与临床异常相比，影像学异常的范围更广，涉及趾骨、跖骨和跗骨。观察到的异常的严重程度范围从正常到类似于Apert综合征患者的脚。只有4例患者的足部影像学正常。这些影像学结果表明，有一系列的足部异常比广泛的大脚趾，这是典型的与法伊弗综合征。
Broad toes are the classic clinical finding occurring in the feet in Pfeiffer's syndrome patients, but few cases undergo formal radiological assessment. However, the feet in other craniosynostosis syndromes resulting from mutations of the fibroblast growth factor receptor 2 gene have anomalies; at many other sites within the feet, which raised the possibility that there may also be a wider range of anomalies other than broad big toes in the feet of those with Pfeiffer's syndrome. The object of this study was to assess prospectively the incidence and pattern of clinical and radiographic anomalies of the feet of patients with a confirmed diagnosis of Pfeiffer's syndrome. Twenty-two Pfeiffer's syndrome patients were examined both clinically and radiologically for anomalies of the feet. Clinical examination revealed broad big toes in 12 patients and syndactyly in 2. Radiographs of the feet were evaluated by a radiologist with an interest in skeletal dysplasia as well as by members of the Craniofacial team. A wider range of radiological than clinical anomalies involving the phalanges, metatarsals, and tarsals was seen. The severity of the anomalies observed ranged from normal to those resembling the feet of Apert's syndrome patients. Only 4 patients had radiologically normal feet. These radiographic findings suggest that there is a range of foot anomalies more extensive than the broad big toes, which are classically associated with Pfeiffer's syndrome.