Gα_s signaling controls intramembranous ossification during cranial bone development by regulating both Hedgehog and Wnt/β-catenin signaling

How osteoblast cells are induced is a central question for understanding skeletal formation. Abnormal osteoblast differentiation leads to a broad range of devastating craniofacial diseases. Here we have investigated intramembranous ossification during cranial bone development in mouse models of skeletal genetic diseases that exhibit craniofacial bone defects. The GNAS gene encodes Gαs that transduces GPCR signaling. GNAS activation or loss-of-function mutations in humans cause fibrous dysplasia(FD) or progressive osseous heteroplasia(POH) that shows craniofacial hyperostosis or craniosynostosis, respectively. We find here that, while Hh ligand-dependent Hh signaling is essential for endochondral ossification, it is dispensable for intramembranous ossification, where Gαsregulates Hh signaling in a ligand-independent manner. We further show that Gαscontrols intramembranous ossification by regulating both Hh and Wnt/β-catenin signaling. In addition, Gαsactivation in the developing cranial bone leads to reduced ossification but increased cartilage presence due to reduced cartilage dissolution, not cell fate switch. Small molecule inhibitors of Hh and Wnt signaling can effectively ameliorate cranial bone phenotypes in mice caused by loss or gain of Gnas function mutations, respectively. Our work shows that studies of genetic diseases provide invaluable insights in both pathological bone defects and normal bone development, understanding both leads to better diagnosis and therapeutic treatment of bone diseases.

Effect of dietary calcium or phosphorus deficiency on bone development and related calcium or phosphorus metabolic utilization parameters of broilers from 22 to 42 days of age

This experiment was conducted to investigate the effect of dietary calcium(Ca)or phosphorus(P)deficiency on bone development and related Ca or P metabolic utilization parameters of broilers from 22 to 42 days of age based on our previous study,which indicated that dietary Ca or P deficiency impaired the bone development by regulating related Ca or P metabolic utilization parameters of broilers from 1 to 21 days of age.A total of 504 one-day-old Arbor Acres male broilers were randomly assigned to 1 of 4 treatments with 7 replicates in a completely randomized design,and fed the normal control and Ca-or P-deficient diets from 1 to 21 days of age.At 22 days of age,the broilers were further fed the normal control diet(0.90%Ca+0.35%non-phytate P(NPP)),the P-deficient diet(0.90%Ca+0.18%NPP),the Ca-deficient diet(0.30%Ca+0.35%NPP)or the Ca and P-deficient diet(0.30%Ca+0.18%NPP),respectively.The results showed that dietary Ca or P deficiency decreased(P<0.05)tibia bone mineral density(BMD),bone breaking strength(BBS),ash content,tibia ash Ca content and serum P content on days 28 and 42,but increased(P<0.05)tibia alkaline phosphatase(ALP)activity of broilers on day 42 compared with the control group.Furthermore,the broilers fed the P-deficient diet had the lowest(P<0.05)tibia BMD,BBS,ash content,serum P content and the highest(P<0.05)serum Ca content on day 28 compared with those fed the Ca-deficient or Ca and P-deficient diets.The results from the present study indicated that the bone development and related Ca or P metabolic utilization parameters of broilers were the most sensitive to dietary P deficiency,followed by dietary Ca deficiency or Ca and P-deficiency;dietary Ca or P deficiency impaired the bone development possibly by regulating serum Ca and P contents as well as tibia Ca content and ALP activity of broilers from 22 to 42 days of age.

Regulation of bone phosphorus retention and bone development possibly by BMP and MAPK signaling pathways in broilers

The bone morphogenetic protein(BMP)and mitogen-activated protein kinase(MAPK)signaling pathways play an important role in regulation of bone formation and development,however,it remains unclear that the effect of dietary different levels of non-phytate phosphorus(NPP)on these signaling pathways and their correlations with bone phosphorus(P)retention and bone development in broilers.Therefore,this experiment was conducted to investigate the effect of dietary P supplementation on BMP and MAPK signaling pathways and their correlations with bone P retention and bone development in broilers.A total of 800 one-day-old Arbor Acres male broilers were randomly allotted to 1 of 5 treatments with 8 replicates in a completely randomized design.The 5 treatments of dietary NPP levels were 0.15,0.25,0.35,0.45 and 0.55%or 0.15,0.22,0.29,0.36 and 0.43%for broilers from 1 to 21 days of age or 22 to 42 days of age,respectively.The results showed that extracellular signal-regulated kinase 1(ERK1)mRNA expression in the tibia of broilers on days 14 and 28,phosphorylated-ERK1(p-ERK1)on day 14,and BMP2 protein expression on days 28 and42 decreased linearly(P<0.04),while c-Jun N-terminal kinase 1(JNK1)mRNA expression on day 42 increased linearly(P<0.02)with the increase of dietary NPP level.At 14 days of age,total P accumulation in tibia ash(TP),bone mineral concentration(BMC),bone mineral density(BMD),bone breaking strength(BBS)and tibia ash were negatively correlated(r=-0.726 to-0.359,P<0.05)with ERK1 and JNK1 mRNA as well as p-ERK1;tibia alkaline phosphatase(ALP)and bone gal protein(BGP)were positively correlated(r=0.405 to 0.665,P<0.01)with ERK1 mRNA and p-ERK1.At 28 days of age,TP,BMC,BMD,BBS and tibia ash were negatively correlated(r=-0.518 to-0.370,P<0.05)with ERK1 mRNA and BMP2 protein,while tibia ALP was positively correlated(r=0.382 to 0.648,P<0.05)with them.The results indicated that TP,BMC,BMD,BBS or tibia ash had negative correlations,while tibia ALP and BGP had positive correlations with ERK1 and JNK1 mRNAs,BMP2 protein and p-ERK1,suggesting that bone P retention and bone development might be regulated by BMP and MAPK signaling pathways in broiler chickens.

Role of fibroblast growth factor receptor 1 in the bone development and skeletal diseases

Accumulating data suggest that FGFs/FGFR1 plays essential roles in the bone development and human skeletal diseases. Conditional inactivation of fgfrl caused different phenotypes displaying in different cells or specific organs and revealed some novel functions of FGFR1 in bone development. Fgfrl mutation mainly induced 2 types of human skeletal diseases, craniosynostosis syndrome and dysplasias. Similar mutation of fgfrl in mouse model just mimicked the phenotype that happened in human. These fa- cilitate the investigation on the underlying mechanism of the diseases. Here we mainly focused on the ad- vance of FGFR1 function in the bone development and its mutation caused skeletal diseases.

Genetic and Environmental Effects on the Bone Development of the Hand and Wrist in Chinese Young Twins

We assessed genetic and environmental effectson bone development of the hand and wrist, andon key anthropometric measures in Chinese youngtwins. In total, 139 monozygotic and 95 dizygotictwin pairs aged from 5 to 18 years were recruited.The twin correlations of total hand and wrist scoresfor monozygotic （MZ） and dizygotic （DZ） twins were0.71 and 0.36, respectively. Bivariate modelanalysis showed moderate genetic correlations onlyfor total skeletal maturity vs. weight and totalskeletal maturity vs. waist circumference （r, 0.51and 0.46, respectively）. Our findings demonstratedthat genetic factors played important roles in bonedevelopment of the hand and wrist in Chineseyoung twins, and that these genetic effects mightbe distinct from those influencing anthropometricmeasures.

Skeletal stem cells in bone development,homeostasis,and disease

Tissue-resident stem cells are essential for development and repair,and in the skeleton,this function is fulfilled by recently identified skeletal stem cells(SSCs).However,recent work has identified that SSCs are not monolithic,with long bones,craniofacial sites,and the spine being formed by distinct stem cells.Recent studies have utilized techniques such as fluorescence-activated cell sorting,lineage tracing,and single-cell sequencing to investigate the involvement of ssCs in bone development,homeostasis,and disease.These investigations have allowed researchers to map the lineage commitment trajectory of ssCs in different parts of the body and at different time points.Furthermore,recent studies have shed light on the characteristics of ssCs in both physiological and pathological conditions.This review focuses on discussing the spatiotemporal distribution of ssCs and enhancing our understanding of the diversity and plasticity of ssCs by summarizing recent discoveries.

TGF-β and BMP signaling in osteoblast,skeletal development,and bone formation,homeostasis and disease

INTRODUCTIONThe transforming growth factor-β （TGF-β） superfamily com- prises TGF-βs, Activin, bone morphogenetic proteins （BMPs） and other related proteins. TGF-β superfamily members act through a heteromeric receptor complex,, comprised of type I and type II receptors at the cell surface that transduce intracellular signals via Smad complex or mitogen-activated protein kinase （MAPK） cascade.

Ⅳa型黏多糖贮积症枕颈部畸形的诊断和外科治疗现状

J黏多糖贮积症(MPS)是一种溶酶体贮积性疾病,是由于编码糖胺聚糖(GAGs)降解酶的基因突变引起的,导致包括骨骼、关节、心脏、呼吸系统和中枢神经系统等多器官和系统受累。根据所缺乏或缺陷的酶的性质不同,MPS可细分为Ⅰ,Ⅱ,Ⅲ,Ⅳ,Ⅵ,Ⅶ,Ⅸ型7种类型,其中Ⅲ型又分为Ⅲa、Ⅲb、Ⅲc和Ⅲd亚型,Ⅳ型分为Ⅳa和Ⅳb亚型^([1])。

自体股骨头结构植骨重建髋臼辅助THA在改良CROWE Type ⅣB型DDH中的临床疗效分析

目的:分析和总结自体股骨头结构植骨重建髋臼辅助全髋关节置换术(total hip arthroplasty,THA)治疗改良Crowe TypeⅣB型成人髋关节发育不良性脱位(developmental dysplasia of the hip,DDH)患者的临床疗效。方法:按照改良Crowe分型,选取山东大学齐鲁医院德州医院关节外科2015年8月至2023年3月收治的TypeⅣB型DDH患者26例,其中男25例,女1例,采用自体股骨头结构植骨重建髋臼辅助THA,记录患者手术时间、术中失血量、术中术后输血量、术后血红蛋白、手术相关并发症和骨愈合时间等,并行骨盆正位X线片了解假体位置、假体骨长入、假体松动以及骨愈合情况等,采用视觉模拟评分表(visual analogue scale,VAS)评价髋关节的疼痛不适,采用髋关节Harris评分和Western Ontario and McMaster Universities Osteoarthritis Index(WOMAC)来评价髋关节功能及临床疗效。结果:所有患者的平均随访时间(9.73±8.35)个月,术中出血平均为(715.38±143.37) mL,术中平均输血(415.38±282.41) mL,手术时间平均为(118.62±18.27) min,术后平均输血为(192.31±236.51) mL。所有患者转子下骨端、自体股骨头和假臼之间均骨愈合良好。髋关节VAS评分从术前6.73±0.45,至术后末次随访时VAS评分1.73±0.53,差异有统计学意义(P=0.000),髋关节活动度均较术前明显改善,髋关节Harris评分从术前24.27±1.66,至术后末次随访时Harris评分74.77±2.89,差异有统计学意义(P=0.000),WOMAC术前术后评分分别为130.08±5.72和67.85±3.23,差异均有统计学意义(P=0.000)。结论:自体股骨头结构植骨重建髋臼辅助THA治疗改良Crowe TypeⅣB型DDH,具有操作相对简单、固定牢固、手术相对安全和疗效确切的优点。

Alendronate disturbs femoral growth due to changes during immunolocalization of transforming growth factor-β1 and bone morphogenetic protein-2 in epiphyseal plate

BACKGROUND The epiphyseal growth plate is an important anatomical segment localized on the ends of a long bone.Despite the abovementioned atractive reasons for alendronate’s use,few data on the effect of alendronate during epiphyseal growth exist.AIM Verify the effect of alendronate on the growth epiphyseal plate,and compare its effect with the size of the femur during the double-staining of the immunolocalization of transforming growth factor-β1(TGF-β1)and bone morphogenetic protein-2(BMP2)in endochondral ossifing in specimens that have received alendronate.METHODS Forty newborn rats were randomly divided into two groups:a control group(were given applications of 1 mg/kg physiologic saline)and a group that received Alendronate(a dose of 2.5 mg/kg).These groups were then divided into two subgroups for euthanasia in two and 12 d of life.After euthanasia,the femurs were removed,and the femoral bones were measured linearly between the apex of the greater trochanter until the lower intercondylar midlle face to verify the probable bone growth between 3 and 12 d in control and alednroanto treated rats.Posteriorly,the surgical pieces were also sent to the histopathology laboratory to produce histological slides.The obtained slides were stained with hematoxylin and eosin to measure each of the cartilage zones in endochondral development.and other slides were immunohistochemically tested for anti-TGF-β1 and BMP-2 antibodies to investigate the immunolocalization of these proteins in the epiphyseal plaque area.RESULTS On the third day,some diferences between the control group and specimens treated with alendronate were verified.Macroscopiccaly,we found similarities in size between the femoral bones when we compared the control group with the specimens that received alendronate.On the 12^th day,the bone size of the mice receiving the drug was significantly smaller than those of the control group.These results coincide with changes in the TGF-β1 and BMP-2 expression.In the specimens that received alendronate,the TGF-β1 was expressed in some sites of trabecular bone that was neoformed,peripherally to the bone marrow area.The BMP-2 was also positive in proliferative chondrocytes and hypertrofic chondrocytes.On the 12^th day,all layers of chondrocytes exhibited positivity for BMP-2 in the specimens that received alendronate.In the interface between the trabecular bone and cartilage,an area of disorganized bone deposition was evident.Neoformed bone also appeared to be different at 12 d.In the control group,BMP-2 was positive in an intense area of bone trabeculae,whereas the alendronate-treated group showed TGF-β1 positive trabeculae and a greater bone area.CONCLUSION Alendronate alters the immunolocalization of TGF-β1 and BMP-2 simultaneously,a condition that changes the usual histological aspects of the cartilage zone and impairs epiphysis growth and femur growth.

NFIX基因变异导致一对同卵双胞胎Marshall-Smith综合征并文献复习

该文报道了一对NFIX基因变异导致Marshall-Smith综合征(Marshall-Smith syndrome,MRSHSS)的同卵双胞胎临床及遗传学特点并对相关文献进行复习。2例患儿均表现为全面发育落后、高额头、浅眼眶、漏斗胸。基因检测提示2例患儿均存在NFIX杂合剪接位点变异c.697+1G>A,父母该位点为野生型,根据美国医学遗传学与基因组学学会指南判定为可能致病性变异,该位点突变既往未见文献报道。复习文献共发现32例MRSHSS患者,突变类型为剪切/移码突变。骨骼成熟加速、中至重度全面发育迟缓/智力障碍是MRSHSS患者最主要的临床表现。基因检测结果是该病重要的诊断依据。

Cloning, expression profiling and promoter functional analysis of bone morphogenetic protein 2 in the tongue sole(Cynoglossus semilaevis)

BMP2 plays crucial roles in vertebrate developmental process and acts as a bone inducer during osteogenesis. We present here the molecular cloning of bmp2 cDNA from the marine flatfish Cynoglossus semilaevis, and the analysis of bmp2 expression profiling and promoter function. The full length of bmp2 cDNA sequence is 2 048 bp,which encodes a protein of 422 amino acids. Tissue expression distribution of bmp2 was examined in 14 tissues of mature individuals by quantitative real time PCR（qRT-PCR）. The results revealed that bmp2 was expressed ubiquitously, and the highest expression level was detected in the spinal cord. Moreover, bmp2 expression levels were detected at 15 sampling time points of early developmental stages（egg, larva, juvenile and fingerling stages）.The highest expression level of bmp2 was observed at the gastrula stage, which was about ten times higher than those at the other three embryo stages. Whole-mount in situ hybridization showed that the bmp2 signal was strongly detected at the location of the crown-like larval fin, heart and liver, and slightly expressed in the notochord at one day post hatch（dph）; then the expression of bmp2 started to be concentrated in notochord at three dph. Subsequently, we characterized the 5′-flanking region of bmp2 by testing the promoter activity by Luciferase reporter assays. Positive regulatory region was detected at the location of –179 to ＋109. The predicted transcription factor binding sites（E-box binding factors, zinc finger transcription factor, etc.） in this region might participate in the transcriptional regulation of the bmp2 gene.

Cartilage and bone tissue engineering using adipose stromal/stem cells spheroids as building blocks

Scaffold-free techniques in the developmental tissue engineering area are designed to mimic in vivo embryonic processes with the aim of biofabricating,in vitro,tissues with more authentic properties.Cell clusters called spheroids are the basis for scaffold-free tissue engineering.In this review,we explore the use of spheroids from adult mesenchymal stem/stromal cells as a model in the developmental engineering area in order to mimic the developmental stages of cartilage and bone tissues.Spheroids from adult mesenchymal stromal/stem cells lineages recapitulate crucial events in bone and cartilage formation during embryogenesis,and are capable of spontaneously fusing to other spheroids,making them ideal building blocks for bone and cartilage tissue engineering.Here,we discuss data from ours and other labs on the use of adipose stromal/stem cell spheroids in chondrogenesis and osteogenesis in vitro.Overall,recent studies support the notion that spheroids are ideal"building blocks"for tissue engineering by“bottom-up”approaches,which are based on tissue assembly by advanced techniques such as three-dimensional bioprinting.Further studies on the cellular and molecular mechanisms that orchestrate spheroid fusion are now crucial to support continued development of bottom-up tissue engineering approaches such as three-dimensional bioprinting.

髋关节超声筛查及筛查体系在婴幼儿发育性髋关节发育不良早期诊断中的应用进展

发育性髋关节发育不良(developmental dysplasia of the hip,DDH)是婴幼儿时期常见的骨骼系统疾病之一。DDH在婴幼儿期容易被忽视,如不能及早诊断,错失最佳治疗时机,会影响髋关节功能,难以纠正关节畸形,进而导致终身残疾。目前髋关节超声检查已成为公认的早期DDH影像学诊断金标准,包括选择性超声筛查模式和普遍性超声筛查模式。近年来,DDH筛查网络体系(即转诊、筛查、确诊、治疗一体化的网络体系)已在中国部分地区实施,可将DDH的初诊时间提前,并保证诊治流程的系统化。人工智能影像技术也逐步应用于婴幼儿DDH的辅助诊断。本文概述了DDH患儿早期接受超声筛查的必要性,并对不同超声筛查技术和国内外筛查模式及体系进行综述,为今后DDH患儿实施有效的髋关节超声筛查和综合干预提供参考。

枕颈部畸形的诊治进展

枕颈部畸形是指寰枢椎、枕骨及其附属结构等由于先天因素造成的解剖异常[1],多见于儿童。枕颈部畸形类型及稳定情况是决定发病与否的基本因素,在相对稳定的条件下可长期不发病,所以也存在成人体检偶然发现的情况。创伤、退行性变或病理因素都可导致枕颈部不稳。枕颈部畸形的临床表现复杂,加之枕颈部发育过程特殊[2],且存在多种畸形并发的情况,容易导致漏诊、误诊。枕颈部畸形除导致患者枕颈活动及稳定功能障碍外,在严重情况下可致脊髓受压甚至影响生命[3]。因此,枕颈部畸形的诊治倍受脊柱外科医师重视。枕颈部畸形的诊断以神经系统检查及影像学检查为主,其治疗方式一般根据病情选择,对于偶发且无症状者一般无须治疗,症状轻或病情稳定者可随访监测,病情进行性加重者则须手术治疗。手术指征为脊髓受压或存在神经症状等,手术目的是减压和稳定。本文通过查阅近年枕颈部畸形诊断和治疗相关文献,并进行分析和总结,以期为枕颈部畸形的诊治提供思路。

不同剂量醋酸曲普瑞林对特发性中枢性性早熟患儿性激素及骨代谢的影响

目的分析不同剂量醋酸曲普瑞林对特发性中枢性性早熟患儿性激素及骨代谢的影响。方法收集2020年5月至2022年1月儿科收治的特发性中枢性性早熟患儿72例,根据电脑随机数字表法分组,每组36例。对照组予以80μg/kg醋酸曲普瑞林治疗,观察组予以60μg/kg醋酸曲普瑞林治疗,12个月后比较2组患儿的临床疗效、发育指标、性激素、骨代谢指标及安全性。结果观察组患儿的总有效率为97.22%,对照组为94.44%,差异无统计学意义(P>0.05);2组患儿的预测成年身高、身高标准差分值(HtSDSBA)与骨龄均高于治疗前,而生长速率低于治疗前(P<0.05),但2组间比较,差异无统计学意义(P>0.05);2组患儿的雌二醇(E2)、促黄体生成素(LH)与促卵泡生成素(FSH)均低于治疗前(P<0.05),但2组间比较,差异无统计学意义(P>0.05);2组患儿的骨钙素N端中分子片段(N-MID)与Ⅰ型原胶原氨基端肽(PINP)水平均低于治疗前(P<0.05),但2组间比较,差异无统计学意义(P>0.05);观察组中不良反应发生率为5.56%低于对照组的25.00%(P<0.05)。结论不同剂量醋酸曲普瑞林在特发性中枢性性早熟患儿中的应用均可取得显著效果,可有效改善其发育指标、性激素及骨代谢指标,但低剂量醋酸曲普瑞林在安全性方面更具优势。

人工智能软件在儿童发育相关疾病骨龄评估中的临床应用

目的探讨与分析人工智能软件在儿童发育相关疾病骨龄评估中的临床应用价值。方法选取2020年5月—2022年12月在江苏省盐城市射阳县人民医院诊治的84例发育相关疾病儿童作为研究对象,患儿都给予左手数字化X线检查,采用杭州深睿博联科技有限公司人工智能影像分析软件对数字化X线摄片进行骨龄评估,同时也由影像科住院医师与影像科主任医师进行阅片,以影像科主任医师的判断结果作为金标准,判定评估价值。结果人工智能阅片时间显著少于住院医师阅片与金标准阅片,差异有统计学意义(P<0.05)。住院医师阅片与金标准阅片时间比较,差异无统计学意义(P>0.05)。人工智能阅片误差与金标准阅片比较,差异无统计学意义(P>0.05),住院医师阅片误差与金标准阅片比较,差异无统计学意义(P<0.05)。住院医师阅片、人工智能阅片、金标准阅片准确率分别为88.10%、97.62%、98.81%,人工智能阅片、金标准阅片的准确率显著高于住院医师阅片,差异有统计学意义(P<0.05)。人工智能阅片、金标准阅片的准确率比较,差异无统计学意义(P>0.05)。结论人工智能软件在儿童发育相关疾病骨龄评估中的临床应用能缩短阅片时间,提高对于骨龄判定的准确性,缩小阅片的误差。

团头鲂肌间骨发育的形态学观察

研究利用整体骨骼染色、形态学解剖和X光透射的方法,对团头鲂(Megalobrama amblycephala)仔稚鱼肌间骨的出现时期、形态以及成鱼肌间骨数目、形态、分布和长度变化进行了观察与分析。结果表明:团头鲂的肌间骨在孵出后20d(体长为1.33 cm)骨化出现,首先出现在尾部,然后向头部方向依次出现,到第40天(体长为2.36 cm)基本全部出现;肌间骨出现与分化的时间受生长发育的影响大于日龄的影响。团头鲂肌间骨数目在108—129,平均为119根,其中躯干部轴上肌中的肌间骨数目最多(40—45根),尾部轴上肌与轴下肌中的肌间骨数目相近(32—39根)。肌间骨形态包括"1"形、"卜"形、"y"形、一端多叉形、两端多叉形和"("形6种类型,各种形态的肌间骨均是从"1"形发展而来;肌间骨越靠鱼体前端形态越复杂。团头鲂躯干轴上肌中的肌间骨显著长于尾部肌肉中的肌间骨(P<0.05),躯干轴下肌中的肌间骨最短,并且肌间骨长度与个体体重与体长呈正相关。研究结果为今后揭示团头鲂肌间骨发生与发育的分子机制,抑制团头鲂肌间骨骨化,培育无肌间骨的团头鲂提供了形态学基础。

髋臼旋转截骨术治疗髋臼发育不良

目的 :报告 1组成年人髋臼发育不良 (DDD)患者行髋臼旋转截骨术 (RAO)的疗效。方法 :采用王金成改良Ollier髋外侧入路 ,行大粗隆截骨 ,截骨块连同臀中肌一起向近端反转 ,在关节囊外距髋臼骨性边缘约 1.5cm处做穹隆状截骨 ,将整个髋臼以球形方式截断并向前、外、下方旋转 ,覆盖股骨头。结果 :12例患者经平均 2 .5年的随访 ,疗效满意。结论 :RAO手术是治疗成年人DDD行之有效的方法 ,可有效改善临床症状 ,恢复髋关节的生物力学及生理特点 ,明显降低患髋的病残率。

进行性假性类风湿发育不良症的临床分析

目的提高对进行性假性类风湿发育不良症的认识。方法对2例进行性假性类风湿发育不良症进行分析，并通过文献复习对本病的临床表现及影像学改变进行分析总结。结果2例患者均为幼年起病，以双手近端指间关节肿胀为突出表现，逐渐出现外周大小关节进行性受累，并伴有脊柱的异常。结合文献报道的51例分析发现，本病男女患病率相仿，发病年龄多为1～10岁，其中77％为3～5岁。外周大小关节均可受累，依次累及双手小关节、髋、膝、踝、腕、肩等，早发骨关节炎改变是致残的主要原因，38％的患者脊柱受累可出现短躯干畸形。影像学特点均表现为普遍性扁平椎并椎体终板不规则、骨骺增大、继发性退行性变和关节周围骨质疏松。本病临床症状与类风湿关节炎相似，但不同的是无滑膜炎和其他炎性改变、X线无破坏性改变。目前无特异的治疗方法。结论进行性假性类风湿发育不良症是一种少见的常染色体隐性遗传性疾病，临床特点及典型的影像学表现有助于诊断。