Cleft Palate in Pfeiffer Syndrome
Cleft Palate in Pfeiffer Syndrome
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DOI：
10.1097/scs.0b013e3181ae42e4
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发表时间：
2009-09-01
影响因子：
0.9
通讯作者：
Rogers, Gary F.
中科院分区：
文献类型：
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作者：
Stoler, Joan M.;Rosen, Heather;Rogers, Gary F.
已知在某些成纤维细胞生长因子受体 2 (FGFR2) 介导的颅缝早闭综合征（例如阿佩尔综合征）中，相关腭裂的发生率较高。然而，关于 FGFR2 介导的疾病（即 Pfeiffer 综合征）中腭裂发生频率的信息很少。本研究的目的是确定 Pfeiffer 综合征患者腭裂的发生率。我们对颅面科治疗的菲佛综合征患者的记录进行了审查。仅纳入确诊为 Pfeiffer 综合征的患者。诊断标准如下：FGFR1 或 FGFR2 的特征性突变，或者在没有基因检测的情况下，由临床遗传学家或我们最有经验的外科医生 (J.B.M.) 确定的与 Pfeiffer 综合征一致的临床结果。 25 名患者 (8%) 中仅发现 2 处唇裂，其中 1 名患有粘膜下唇裂，1 名患有明显的腭裂。许多患者 (87%) 被描述为具有高拱形且狭窄的腭，并且 1 名患者具有低且宽的腭。九名患者被发现患有后鼻孔闭锁或狭窄。普法伊弗综合征确实会发生腭裂
The frequency of associated cleft palate is known to be high in some fibroblast growth factor receptor 2 (FGFR2)-mediated craniosynostosis syndromes, such as Apert syndrome. However, there is little information on the frequency of palatal clefts in the FGFR2-mediated disorder, that is, Pfeiffer syndrome. The purpose of this study was to determine the frequency of palatal clefts in patients with Pfeiffer syndrome. The records of patients with Pfeiffer syndrome managed in our craniofacial unit were reviewed. Only patients with a confirmed diagnosis of Pfeiffer syndrome were included. Diagnostic criteria were as follows: characteristic mutations in FGFR1 or FGFR2 or, in the absence of genetic testing, clinical findings consistent with Pfeiffer syndrome as determined by a clinical geneticist or our most experienced surgeon (J.B.M.). Only 2 clefts were noted in 25 patients (8%), including 1 with a submucous cleft and I with an overt palatal cleft. Many patients (87%) were described as having a high-arched and narrow palate, and 1 had a low, broad palate. Nine patients were noted to have choanal atresia or stenosis. Clefting of the palate does occur in Pfeiffer syndrome