Boston, Mass. From the Department of Plastic and Oral Surgery, Boston Children's Hospital and Harvard Medical School.
Plast Reconstr Surg. 2014 May;133(5):654e-661e. doi: 10.1097/PRS.0000000000000107.
Pfeiffer syndrome is characterized by craniosynostosis and a variety of associated upper and lower extremity anomalies. The authors reviewed presentation and treatment of upper extremity anomalies in a series of genotyped patients with Pfeiffer syndrome.
Medical records of patients with Pfeiffer syndrome seen at the authors' institution over a 16-year period were reviewed. Data on clinical presentation, genetic testing, and treatment were collected. The upper extremity anomalies were documented using plain radiographs and physical examinations by a multidisciplinary craniofacial team.
Of 15 patients identified as having FGFR1- or FGFR2-confirmed Pfeiffer syndrome, 12 (80 percent) presented with upper extremity anomalies, most commonly broad thumbs [n = 10 (83 percent)], radial clinodactyly (thumbs) [n = 7 (58 percent)], and symphalangism [n = 7 each (58 percent)]. All patients with upper extremity anomalies had lower extremity anomalies. Six of the 12 patients (50 percent) with upper extremity findings underwent surgical correction. FGFR1 or FGFR2 genotype did not correlate with upper extremity phenotype.
Although broad thumbs are common, patients with Pfeiffer syndrome often present with other upper extremity anomalies that may not require surgical intervention. Genetic and allelic heterogeneity may explain phenotypic variability in these upper extremity anomalies. Characterization of these limb differences should be made by pediatric hand surgeons as part of a craniofacial team. Treatment decisions should be individualized and dictated by the type and severity of clinical presentation.
CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, IV.
Pfeiffer 综合征的特征是颅缝早闭和多种相关的上下肢异常。作者回顾了一系列 Pfeiffer 综合征基因分型患者上肢异常的表现和治疗。
回顾了作者所在机构在 16 年期间就诊的 Pfeiffer 综合征患者的病历。收集了临床表现、基因检测和治疗的数据。上肢异常通过多学科颅面团队的普通 X 光片和体格检查进行记录。
在 15 名被确认为 FGFR1 或 FGFR2 确认的 Pfeiffer 综合征患者中，有 12 名（80%）出现上肢异常，最常见的是宽拇指[n=10（83%）]、桡侧指（拇指）侧偏[ n=7（58%）]和并指畸形[n=7（58%）]。所有上肢异常患者均有下肢异常。12 名上肢发现异常的患者中有 6 名（50%）接受了手术矫正。FGFR1 或 FGFR2 基因型与上肢表型没有相关性。
尽管宽拇指很常见，但 Pfeiffer 综合征患者通常还会出现其他上肢异常，这些异常可能不需要手术干预。遗传和等位基因异质性可能解释了这些上肢异常的表型变异性。这些肢体差异应由儿科手外科医生作为颅面团队的一部分进行描述。治疗决策应个体化，并根据临床表现的类型和严重程度来决定。
临床问题/证据水平： 风险，IV。
