Craniofacial morphology in Muenke syndrome
Craniofacial morphology in Muenke syndrome
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DOI：
10.1097/scs.0b013e31803ffa63
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发表时间：
2007-03-01
影响因子：
0.9
通讯作者：
Kreiborg, Sven
中科院分区：
文献类型：
--
作者：
Keller, Mette K.;Hermann, Nuno V.;Kreiborg, Sven
本研究的目的是测试 Muenke 综合征单冠状骨连接婴儿的颅骨表型严重程度是否大于非综合征性单冠状骨连接婴儿。该研究共有 23 名婴儿。研究中的所有婴儿均进行了计算机断层扫描 (CT) 验证的冠状缝骨融合。根据 FGFR3 基因 P250R 突变测试，将患者分为“Muenke”组（n = 11）或“非 Muenke”对照组（n = 12）。在CT扫描的基础上，为每个人创建了与骨骼相对应的三维表面模型。检查缝合线的骨连接，并评估骨连接的程度。两组的数字标记都增加了。使用骨标志和记录颅骨、颅底和上颌复合体的中矢状表面来定量评估颅面形态。 Muenke 患者后部数字标记的增加比非 Muenke 患者更严重。与非 Muenke 患者相比，单侧冠状骨联结的 Muenke 患者颅骨前部不对称程度更严重。该研究表明，患有 Muenke 综合征的婴儿和患有非综合征性单侧冠状缝早闭的婴儿之间，数字标记增加和颅面不对称的严重程度存在差异。
The purpose of this study was to test whether the severity of the cranial phenotype in Muenke syndrome infants with unicoronal synostosis is greater than in infants with nonsyndromic unicoronal synostosis. A total of 23 infants were included in the study. All infants included in the study had a computed tomography (CT)-verified synostosis of the coronal suture. The patients were either placed into the "Muenke" group (n = 11) or the "non-Muenke" control group (n = 12) on the basis of a test for the P250R mutation in the FGFR3 gene. On the basis of CT scans, a three-dimensional surface model corresponding to bone was created for each individual. The sutures were inspected for synostosis, and the degree of synostosis was assessed. Increased digital markings were recorded for both groups. Craniofacial morphology was assessed quantitatively using bony landmarks and recording of the midsagittal surface of the calvaria, cranial base, and maxillary complex. Increased digital markings were more severe posteriorly in Muenke patients than in non-Muenke patients. The Muenke patients with unilateral coronal synostosis showed a somewhat more severe asymmetry in the anterior part of the skull than the non-Muenke patients. The study indicates differences with regard to severity of increased digital markings and craniofacial asymmetry between the infants with Muenke syndrome and the infants with nonsyndromic unilateral coronal synostosis.