Schaffer Alyssa A, Kaplan Frederick S, Tracy Michael R, O'Brien Megan L, Dormans John P, Shore Eileen M, Harland Richard M, Kusumi Kenro
Division of Orthopaedic Surgery, Children's Hospital of Philadelphia, Institution B, Philadelphia, PA, USA.
Spine (Phila Pa 1976). 2005 Jun 15;30(12):1379-85. doi: 10.1097/01.brs.0000166619.22832.2c.
A radiographic analysis of the cervical spine of 70 patients diagnosed with fibrodysplasia ossificans progressiva (FOP) and 33 diagnosed with Klippel-Feil (KF) syndrome was conducted.
The objectives of this study were to describe cervical spine abnormalities in patients with FOP, to compare and contrast those findings with the malformations in patients with KF syndrome, and to examine the possible etiology of these abnormalities.
Congenital features of diseases often provide seminal clues to underlying etiology and developmental pathways. While progressive metamorphosis of connective tissue to heterotopic bone is the most dramatic and disabling feature of FOP, less severe congenital anomalies of the skeleton are also present. Vertebral fusions observed in KF are consistent with defects in embryonic segmentation.
The cervical spine plain films of 70 FOP patients and 33 KF patients with documented congenital abnormalities were reviewed.
Generalized neck stiffness and decreased range of motion were noted in most children with FOP. In the FOP patient group, characteristic anomalies, including large posterior elements, tall narrow vertebral bodies,and fusion of the facet joints between C2 and C7, were observed. Most notably, these characteristic anomalies of the cervical spine in patients with FOP were distinctly different from those of 33 patients with KF that were examined but were strikingly similar to those seen in mice with homozygous deletions of the gene-encoding noggin, a bone morphogenetic protein (BMP) antagonist.
FOP patients exhibit a characteristic set of congenital spine malformations. While the noggin gene (NOG) is not mutated in patients who have FOP, these findings extend a growing body of evidence implicating overactivity of the BMP signaling pathway in the molecular pathogenesis of FOP.
对70例诊断为进行性骨化性纤维发育不良（FOP）的患者和33例诊断为克利珀尔-费尔（KF）综合征的患者的颈椎进行了影像学分析。
本研究的目的是描述FOP患者的颈椎异常情况，将这些发现与KF综合征患者的畸形进行比较和对比，并研究这些异常的可能病因。
疾病的先天性特征往往为潜在病因和发育途径提供重要线索。虽然结缔组织向异位骨的进行性变形是FOP最显著和致残的特征，但骨骼较轻的先天性异常也存在。在KF中观察到的椎体融合与胚胎节段化缺陷一致。
回顾了70例FOP患者和33例有记录的先天性异常的KF患者的颈椎平片。
大多数FOP儿童存在颈部普遍僵硬和活动范围减小的情况。在FOP患者组中，观察到特征性异常，包括大的后部结构、高而窄的椎体以及C2至C7之间小关节的融合。最值得注意的是，FOP患者颈椎的这些特征性异常与33例接受检查的KF患者的异常明显不同，但与编码骨形态发生蛋白（BMP）拮抗剂头蛋白的基因纯合缺失的小鼠中观察到的异常惊人地相似。
FOP患者表现出一组特征性的先天性脊柱畸形。虽然FOP患者的头蛋白基因（NOG）没有发生突变，但这些发现扩展了越来越多的证据，表明BMP信号通路的过度激活参与了FOP的分子发病机制。
