SKELETAL ABNORMALITIES IN THE APERT SYNDROME
SKELETAL ABNORMALITIES IN THE APERT SYNDROME
复制标题
DOI：
10.1002/ajmg.1320470509
复制
发表时间：
1993-10-01
期刊：
影响因子：
--
通讯作者：
KREIBORG, S
中科院分区：
文献类型：
--
作者：
COHEN, MM;KREIBORG, S
本文报告38例Apert综合征的骨骼异常。分析包括肩部、肱骨、肘、髋、膝、肋骨和脊柱（颈椎除外）的改变。一些患者在婴儿期就有肩峰下凹陷和肘凹陷。盂肱关节活动受限。外展、前屈和外旋随着生长而逐渐受限，几乎是一个恒定的发现。临床上肩锁关节突出，有时呈角状、尖状。这通常与肩胛骨的肌肉萎缩和翼状有关。肘关节活动受限是常见的，通常程度轻微。最常见的是肘关节伸展度降低，屈曲、旋前和旋后减少的发生率较低。与肩关节中观察到的严重程度增加相反，肘关节活动受限并没有随生长而显著变化。短肱骨是一个恒定的发现超过婴儿期和膝外翻的轻度程度在许多情况下存在。X线检查强烈提示Apert综合征的特点是多发性骨骺发育不良。我们发现出生后骨化中心出现延迟，特别是在肱骨头、大结节、肱骨小头和桡骨头。随后，这些骨头变得形状异常。一致观察到关节盂发育不良。肩胛骨颈非常短或缺失，关节盂下缘与关节盂下结节界限不清。肱骨头变成椭圆形，大结节相对突出，影响了外展。手肘中，肱骨小头通常较小，桡骨头在许多情况下是平坦的。在某些病例中观察到桡骨头半脱位或脱位或桡骨颈成角。部分成人髋关节股骨颈短而宽，大转子突出。不太常见的影像学表现也进行了讨论。(C)1993 Wiley-Liss，Inc.
This paper reports on skeletal abnormalities in 38 patients with Apert syndrome. Analysis includes alterations in the shoulders, humeri, elbows, hips, knees, rib cage, and spine (except the cervical spine).Some patients had subacromial dimples and elbow dimples during infancy. Mobility at the glenohumeral joint was limited. Progressive limitation in abduction, forward flexion, and external rotation with growth was virtually a constant finding. The acromioclavicular joint was prominent and sometimes had an angular, pointed appearance clinically. This was often associated with atrophic musculature and winging of the scapulae. Limited elbow mobility was common and usually mild in degree. Decreased elbow extension was most often found with decreased flexion, pronation, and supination occurring less frequently. Limited elbow mobility did not change significantly with growth in contrast to the increasing severity observed in the shoulder joint. Short humeri were a constant finding beyond infancy and genua valga of mild degree were present in many cases.Radiographic examination strongly suggests that the Apert syndrome is characterized by a multiple epiphyseal dysplasia. We found delay in appearance of postnatal ossification centers, particularly in the humeral head, greater tuberosity, capitulum, and radial head. Subsequently, these bones became abnormal in shape. Glenoid dysplasia was observed consistently. The neck of the scapula was very short or absent and the inferior margin of the glenoid cavity was poorly demarcated from the infraglenoid tubercle. The humeral head became oblong in shape with relative prominence of the greater tuberosity which compromised abduction. In the elbow, the capitulum was often small and the radial head was flat in many instances. Subluxation or dislocation of the radial head or angulation of the radial neck was observed in some cases. In the hip joint of some adults, the femoral necks were short and broad with prominence of the greater trochanters. Less common radiographic findings are also discussed. (C) 1993 Wiley-Liss, Inc.