PDF(Pubmed)
Abstract：
Achondroplasia is the most frequent FGFR3-related chondrodysplasia, leading to rhizomelic dwarfism, craniofacial anomalies, stenosis of the foramen magnum, and sleep apnea. Craniofacial growth and its correlation with obstructive sleep apnea syndrome has not been assessed in achondroplasia. In this study, we provide a multimodal analysis of craniofacial growth and anatomo-functional correlations between craniofacial features and the severity of obstructive sleep apnea syndrome.
A multimodal study was performed based on a paediatric cohort of 15 achondroplasia patients (mean age, 7.8 ± 3.3 years), including clinical and sleep study data, 2D cephalometrics, and 3D geometric morphometry analyses, based on CT-scans (mean age at CT-scan: patients, 4.9 ± 4.9 years; controls, 3.7 ± 4.2 years).
Craniofacial phenotype was characterized by maxillo-zygomatic retrusion, deep nasal root, and prominent forehead. 2D cephalometric studies showed constant maxillo-mandibular retrusion, with excessive vertical dimensions of the lower third of the face, and modifications of cranial base angles. All patients with available CT-scan had premature fusion of skull base synchondroses. 3D morphometric analyses showed more severe craniofacial phenotypes associated with increasing patient age, predominantly regarding the midface-with increased maxillary retrusion in older patients-and the skull base-with closure of the spheno-occipital angle. At the mandibular level, both the corpus and ramus showed shape modifications with age, with shortened anteroposterior mandibular length, as well as ramus and condylar region lengths. We report a significant correlation between the severity of maxillo-mandibular retrusion and obstructive sleep apnea syndrome (p < 0.01).
Our study shows more severe craniofacial phenotypes at older ages, with increased maxillomandibular retrusion, and demonstrates a significant anatomo-functional correlation between the severity of midface and mandible craniofacial features and obstructive sleep apnea syndrome.
A multimodal study was performed based on a paediatric cohort of 15 achondroplasia patients (mean age, 7.8 ± 3.3 years), including clinical and sleep study data, 2D cephalometrics, and 3D geometric morphometry analyses, based on CT-scans (mean age at CT-scan: patients, 4.9 ± 4.9 years; controls, 3.7 ± 4.2 years).
Craniofacial phenotype was characterized by maxillo-zygomatic retrusion, deep nasal root, and prominent forehead. 2D cephalometric studies showed constant maxillo-mandibular retrusion, with excessive vertical dimensions of the lower third of the face, and modifications of cranial base angles. All patients with available CT-scan had premature fusion of skull base synchondroses. 3D morphometric analyses showed more severe craniofacial phenotypes associated with increasing patient age, predominantly regarding the midface-with increased maxillary retrusion in older patients-and the skull base-with closure of the spheno-occipital angle. At the mandibular level, both the corpus and ramus showed shape modifications with age, with shortened anteroposterior mandibular length, as well as ramus and condylar region lengths. We report a significant correlation between the severity of maxillo-mandibular retrusion and obstructive sleep apnea syndrome (p < 0.01).
Our study shows more severe craniofacial phenotypes at older ages, with increased maxillomandibular retrusion, and demonstrates a significant anatomo-functional correlation between the severity of midface and mandible craniofacial features and obstructive sleep apnea syndrome.
摘要：
背景：软骨发育不良是最常见的FGFR3相关软骨发育不良，导致根茎侏儒症，颅面异常,大孔狭窄,和睡眠呼吸暂停。尚未在软骨发育不全中评估颅面生长及其与阻塞性睡眠呼吸暂停综合征的相关性。在这项研究中,我们对颅面发育和颅面特征与阻塞性睡眠呼吸暂停综合征严重程度之间的解剖功能相关性进行了多模态分析.
方法：一项多模式研究是基于15例软骨发育不全患者的儿科队列进行的（平均年龄，7.8±3.3年)，包括临床和睡眠研究数据，二维头影测量，和三维几何形态分析，基于CT扫描(CT扫描时的平均年龄：患者，4.9±4.9年；对照，3.7±4.2年)。
结果：颅面表型的特征是上颌骨-zy骨退缩，深鼻根，和突出的前额。2D头颅测量研究显示持续的上颌下颌后缩，面部下部三分之一的垂直尺寸过大，和颅底角的修改。所有获得CT扫描的患者均过早融合颅底软骨。3D形态学分析显示，与患者年龄增加相关的颅面表型更严重，主要涉及中面-老年患者的上颌前缩增加-和颅底-关闭蝶枕角。在下颌水平，随着年龄的增长，语料库和ramus都表现出形状的变化，下颌前后长度缩短，以及ramus和con突区域的长度。我们报告上颌下颌后缩的严重程度与阻塞性睡眠呼吸暂停综合征之间存在显着相关性（p<0.01）。
结论：我们的研究表明，老年人的颅面表型更严重，随着上颌下颌后缩增加，并证明了中面和下颌骨颅面特征的严重程度与阻塞性睡眠呼吸暂停综合征之间的显着解剖功能相关性。
方法：一项多模式研究是基于15例软骨发育不全患者的儿科队列进行的（平均年龄，7.8±3.3年)，包括临床和睡眠研究数据，二维头影测量，和三维几何形态分析，基于CT扫描(CT扫描时的平均年龄：患者，4.9±4.9年；对照，3.7±4.2年)。
结果：颅面表型的特征是上颌骨-zy骨退缩，深鼻根，和突出的前额。2D头颅测量研究显示持续的上颌下颌后缩，面部下部三分之一的垂直尺寸过大，和颅底角的修改。所有获得CT扫描的患者均过早融合颅底软骨。3D形态学分析显示，与患者年龄增加相关的颅面表型更严重，主要涉及中面-老年患者的上颌前缩增加-和颅底-关闭蝶枕角。在下颌水平，随着年龄的增长，语料库和ramus都表现出形状的变化，下颌前后长度缩短，以及ramus和con突区域的长度。我们报告上颌下颌后缩的严重程度与阻塞性睡眠呼吸暂停综合征之间存在显着相关性（p<0.01）。
结论：我们的研究表明，老年人的颅面表型更严重，随着上颌下颌后缩增加，并证明了中面和下颌骨颅面特征的严重程度与阻塞性睡眠呼吸暂停综合征之间的显着解剖功能相关性。
