Differences in risk factors between early and late diagnosed developmental dysplasia of the hip

BACKGROUND: Developmental dysplasia of the hip (DDH) is common, affecting 7.3 per 1000 births in South Australia. Clinical screening programmes exist to identify the condition early to gain the maximum benefit from early treatment. Although these screening programmes are effective, there are still cases that are missed. Previous research has highlighted key risk factors in the development of DDH. OBJECTIVE: To compare the risk factors of cases of DDH identified late with those that were diagnosed early. METHODS: A total of 1281 children with DDH born in 1988-1996 were identified from the South Australian Birth Defects Register. Hospital records of those who had surgery for DDH within 5 years of life were examined for diagnosis details. Twenty seven (2.1%) had been diagnosed at or after 3 months of age and were considered the late DDH cases (a prevalence of 0.15 per 1000 live births). Various factors were compared with early diagnosed DDH cases. RESULTS: Female sex, vertex presentation, normal delivery, rural birth, and discharge from hospital less than 4 days after birth all significantly increased the risk of late diagnosis of DDH. CONCLUSIONS: The results show differences in the risk factors for early and late diagnosed DDH. Some known risk factors for DDH are in fact protective for late diagnosis. These results highlight the need for broad newborn population screening and continued vigilance and training in screening programmes.     

发育性髋关节发育不良儿童髋臼形态学病理分型的探讨

目的通过三维CT分析髋臼形态学的病理改变,为临床选择合适的骨盆截骨方式提供参考。方法选择101例发育性髋关节发育不良儿童,共129个髋关节。术前行髋关节螺旋CT扫描并通过Mimics 10.01软件进行三维重建,根据以往参考文献分型,结合病例观察,提出髋臼形态学病理分型。结果分为六型:Ⅰ型为轻度发育不良,占31.8%。Ⅱ型为髋臼前上缺损,占17.1%。Ⅲ型为中上缺损,占32.6%。Ⅳ型为全缺损,占10.8%。Ⅴ型为假臼,占5.4%。Ⅵ型为三角型髋臼,占2.3%。结论髋臼形态学新的病理分型有助于对发育性髋关节发育不良儿童病理改变的认识。通过三维CT了解髋臼的不同形态学改变,能为临床选择合适的骨盆截骨方式提供参考。     

Screening for developmental dysplasia of the hip: Results of a 7-year follow-up study

BACKGROUND: Screening for developmental dysplasia of the hip (DDH) is widely recommended for all infants to prevent disability from late diagnosis of dislocation of the hip. The present study evaluates the results of screening for developmental dislocation of hip in a clinic in Turkey over the course of 7 years. METHODS: Hospital records of 5798 infants who were examined regularly until walking age at Gazi University well child clinics between January 1995 and December 2001 were reviewed. Infants with known risk factors for DDH such as breech presentation, family history of DDH or swaddling, and of infants with physical examination findings suggestive of DDH, were referred to orthopedic surgeons for diagnosis. Based on this final diagnosis, sensitivity, specificity, positive and negative predictive values of risk factors and physical examination findings were calculated. RESULTS: Of the 5798 infants, risk factors were detected in the medical history of 111 infants, and in 14 infants a musculoskeletal deformity was detected. In 606 infants the physical examination findings were suggestive of DDH. Ten patients were subsequently diagnosed with DDH. The sensitivity, specificity, positive predictive value and negative predictive values of having a risk factor for DDH in history were 10.0%, 98.1%, 0.9%, 99.8%, and having abnormal hip examination findings were 100.0%, 88.9%, 1.6% and 100.0%, respectively. CONCLUSIONS: A careful history and physical examination is the cornerstone of DDH screening. Serial hip examinations performed during health examination visits provide an opportunity to identify DDH cases. The sensitivity of risk factors in history and physical examination findings together is high enough to be accepted as a screening tool.     

Description of the ‘pronation manoeuvre’ for the diagnosis of developmental hip dysplasia

IntroductionWithout a prompt diagnosis, developmental dysplasia of the hip (DDH) in infants can lead to severe sequelae. Current screening strategies emphasize the use of Ortolani and Barlow physical examination manoeuvres, yet they exhibit low sensitivity. The purpose of this study is to evaluate the performance of a new physical examination tool (the pronation manoeuvre) as a screening tool for DDH.MethodsTo evaluate the new manoeuvre, a cross-sectional and analytic study was performed with a nonprobabilistic sampling method. Patients with either a positive Ortolani or Barlow manoeuver were evaluated with the new manoeuvre and hip ultrasound. Controls were infants with negative Ortolani, Barlow and pronation manoeuvres and also had ultrasound performed.ResultsDDH was confirmed in 83 of 130 cases (64%) and 2 of 130 controls (2%). The new pronation manoeuvre had a sensitivity of 76% and a specificity of 94% as compared to the Ortolani and Barlow manoeuvres (sensitivity 31 to 32%, specificity 93 to 100%) (P<0.05).ConclusionThis new physical examination manoeuvre could serve as another clinical tool for the initial screening of DDH in newborns. Its promising results against traditional screening procedures might potentially impact diagnosis and prognosis for patients with DDH.     

Developmental dysplasia of the hip. A population-based comparison of ultrasound and clinical findings

Clinical and ultrasound findings were compared in 3613 newborns examined for developmental dysplasia of the hip (DDH) within 48 hours of delivery. Clinical and sonographic hip stability was described as stable, borderline unstable, dislocatable or dislocated, and the morphology on ultrasound as normal, immature or dysplastic. Persistent clinical or sonographic dislocatability or dislocation. major dysplasia or minor dysplasia combined with an unstable femoral head were indications for early treatment. A total of 123 (3.4%) infants were subjected to early treatment. of which 55 (45%) fulfilled the criteria for treatment on both clinical and ultrasound examinations, 52 (42%) were treated on the basis of ultrasound findings alone, and 16 (13%) on the basis of clinical findings alone. Thirty percent of the infants with clinically dislocated or dislocatable hips were judged to have stable or just borderline unstable hips on the first clinical examination. Of 486 (13.5%) infants with sonographically immature or minor dysplastic but stable hips, 472 (97%) normalized spontaneously, while treatment was initiated in 14 (3%) of them at 1-3 months of age because of lack of sonographic improvement. Only one infant presented with late DDH during an observation period of 3 years. Accepting sonographic dysplasia as a criterion for early splinting may result in a treatment rate which is almost twice the rate based on clinical criteria, but late dislocation may be virtually eliminated.     

Developmental dysplasia of the hip in South Australia in 1991: Prevalence and risk factors

To determine the prevalence of developmental dysplasia of the hip (DDH) in South Australia (SA) in 1991, the proportion of cases detected in the neonatal period and the perinatal risk factors for DDH.

Methodology:

Cases of DDH born in SA in 1991 were identified from multiple sources and their clinical data linked to perinatal data provided by midwives; five controls per case were obtained randomly from SA livebirths without congenital abnormalities and adjusted odds ratios (OR) for potential risk factors obtained by logistic regression analysis. South Australia perinatal data were also used to estimate numbers of births with perinatal risk factors for targeted screening.

Results:

Two hundred and six cases of isolated DDH were identified, giving a prevalence of 10.5 per 1000 births. Of these, 173 (84%) had been detected in the neonatal period. The perinatal risk factors for DDH were identified as breech presentation (OR 9.65), female babies (OR 4.04), first births (OR 1.91) and maternal age of 25 years or more (OR 1.53). Screening breech and firstborn female babies (23% of births) would yield approximately 51% of cases of DDH.

Conclusions:

Isolated DDH had a prevalence of 10.5 per 1000 births and 84% of cases had been detected in the neonatal period in SA. Repeated screening during infancy of 'at risk' groups of babies is recommended.     

Developmental dysplasia of the hip: Risk markers, clinical screening and outcome

Background: Early detection, diagnosis and treatment of developmental dysplasia/dislocation of hip (DDH) are essential in preventing further disability and quality of life impairment in children. DDH risk markers and association between the age of clinical screening and outcome, were evaluated.
Methods: Clinical screening at ages birth, 6 and 13 weeks was performed in 8145 infants by pediatricians. Infants suspected for DDH were referred to the community hospital clinic for clinical evaluation by a pediatric orthopedic surgeon, imaging procedures and follow up. Demographic and perinatal characteristics of the children with suspected ( n = 77) and diagnosed DDH ( n = 51) were compared to matched controls ( n = 154).
Results: The rate of suspected DDH was 0.95% and that of diagnosed DDH was 0.63%. Female gender, firstborn child and breech presentation were significantly more frequent among cases versus controls (odds ratio [OR]: 4.3, 2.7, and 6 respectively; P < 0.05). The highest positive predictive value (95.5%) in physical evaluation was any evidence of a dislocatable hip. The proportion of DDH among infants referred from the newborn department was significantly higher (OR, 4.4). DDH diagnosis after 6 weeks of age was associated with a higher likelihood of subsequent surgery and motor disability. Untoward outcome was significantly associated with increasing age of referral both at ages of 6 and 13 weeks ( P < 0.05).
Conclusions: Children with DDH have certain specific demographic and perinatal risk markers. Clinical screening targeted towards early diagnosis may lessen the need for surgical intervention and the risk of disability or motor handicap.     

Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2

Developmental dysplasia of the hip (DDH) is one of the most prevalent developmental orthopedic diseases worldwide. DDH is a spectrum of anatomical abnormalities of the hip joint and is characterized by premature arthritis in later life. Sporadic cases have been reported more frequently; however, some studies have reported families segregating DDH. Studies have suggested that the genetic factors play a significant role in the development of DDH. In order to detect genetic defect underlying DDH, we performed Sanger sequencing of all DDH associated genes, whole genome SNP genotyping and exome sequencing in a Saudi family with four individuals having DDH. Sanger sequencing of all known genes did not identify any pathogenic variant. Genotype data analysis using HomozygosityMapper identified shared homozygous regions on chromosome 15q13.3 and chromosome 19p13.2 flanked by rs17228178‐rs1534200 and rs466123‐rs2112461, respectively. These data were also analyzed by cnvpartition software for identification of DDH associated copy number variations (CNV). A shared copy number gain of approximately 15 kb on chr6p21.32 (chr6:33 053 906–33 069 893) was discovered in all affected individuals. Partial gain of this region has also been found in unaffected sibling of this family. Exome data did not reveal any candidate sequence variant. Whole genome sequencing is required to identify deep intronic variants in the shared homozygous regions. Identification of genetic variants involved in pathogenesis of DDH may open up interesting perspectives into the function of the gene(s) in hip joint development.     

Management of neonatal hip instability and dysplasia

The diagnosis and treatment of neonatal hip instability and dysplasia is controversial. Different countries have different algorithms and guidelines on which hips should be screened or treated. German speaking countries have introduced universal ultra sound hip screening programmes resulting in relatively high splintage rates in certain centres. Some Scandinavian centres have organised selective screening programmes with serial ultrasound observation of hip instabilities, leading to comparatively low splintage rates. Though most experts would treat clinical hip instability (confirmed by ultrasound evaluation), the natural history and epidemiology of dysplasia is less well understood. The treatment regimes for neonatal dysplasia are varied with wide differences in the rates of splintage. 'Late' dislocation may be secondary to prenatal dislocation (teratogenic), neonatal hip instability or to persistent major dysplasia of the hip. The term 'missed' dislocation should not be used as this suggests negligence on the part of the examiner, when this may not be the case. Which splint to use (rigid or dynamic), at what age, and for how long, are questions currently unresolved as no proper controlled trials have been undertaken. However, a sensible treatment algorithm can be advocated. Complications secondary to splintage are rare, though nerve damage, avascular necrosis of the hip, redislocation and skin problems have been described.     

牵引在闭合复位治疗儿童发育性髋关节脱位中的作用的多中心回顾性研究

目的 探讨双下肢牵引在儿童发育性髋关节脱位(DDH)闭合复位中的作用.方法 回顾性分析我国南方7家医院2004年1月至2014年6月采用闭合复位治疗的DDH患儿的临床资料.共有302例(333髋)符合纳入标准,其中,男40例,女262例;单侧271例,双侧31例.平均年龄(16.5±5.1)个月,平均随访时间(38.0±18.0)个月.牵引组227例,非牵引组75例.比较两组患儿Tonnis分度、再脱位发生率、股骨头坏死(AVN)、末次随访髋臼指数(AI)、中心边缘角(CE角)和Severin影像学分级.结果 非牵引组平均住院时间(5.1±2.6)d,显著短于牵引组(16.2±7.5)d(P＜0.001).术前牵引组的平均Tonnis分度显著高于非牵引组(P=0.021).333髋中有23髋(6.9％)出现再脱位,牵引组的再脱位发生率为8.7％,非牵引组的再脱位发生率为1.3％,两者差异有统计学意义(P=0.022).在Tonnis Ⅱ度的患儿中,牵引组和非牵引组的再脱位发生率差异无统计学意义.在Tonnis Ⅲ～Ⅳ度的患儿中,牵引组的再脱位发生率显著高于非牵引组(P=0.027).牵引组AVN发生率为17.4％,非牵引组AVN发生率为26.3％,两者差异无统计学意义(P =0.083).同样,根据Tonnis分型分别比较牵引和非牵引组之间的AVN发生率,结果差异也无统计学意义.牵引和非牵引组之间AVN的分型差异也无统计学意义(P=0.076).牵引组和非牵引组之间的AI值和CE角差异均无统计学意义(P＞0.05).两组之间Severin影像学分级差异无统计学意义(P =0.559).结论 牵引不能降低DDH闭合复位术后再脱位的发生率,不能减少AVN的发生率,也不能改善DDH闭合复位的最终治疗效果.     

正常儿及发育性髋脱位患儿保守治疗后股骨Alsberg角的演变规律研究

目的 探讨正常儿童及发育性髋关节发育不良(developmental dysplasia of the hip,DDH)患儿保守治疗后,Alsberg角随年龄的变化规律,及其是否可以早期预测Kalamchi-MacEwen Ⅱ型股骨头坏死.方法 在标准的骨盆正位片上,测量1～10岁正常儿的股骨近端Alsberg角,每个年龄段测量100例,共1000例;同时,测量112例行保守治疗(Pavlik支具或闭合复位)DDH患儿术前的Alsberg角,并与年龄匹配的正常儿比较.对随访至骨成熟期,获得成功复位(同心复位,无股骨头坏死发生)的42例(64髋)患儿,及24例(28髋)发生Kalamchi-MacEwenⅡ型股骨头坏死的患儿,回顾性分析复位后Alsberg角随年龄的演变规律.结果 正常儿Alsberg角随年龄呈下降趋势,1岁时左侧平均为76.5°±3.4°,右侧为76.7°±4.6°;10岁时降至左侧65.2°±4.1°,右侧64.7°±4.3°.左右侧间差异无统计学意义(P=0.087);不同性别间差异也无统计学意义(左侧P=0.072,右侧P=0.342).DDH患儿组,治疗前Alsberg角平均为81.5°±3.9°,年龄匹配的正常儿为74.9°±4.5°(P＜0.001).获得成功复位的患儿,复位后Alsberg角逐年下降,最后随访时平均为68.4°±6.0°(56°～88°),接近同龄正常儿.在Ⅱ型股骨头缺血性坏死组,治疗前Alsberg角平均为80.4°±4.6°(74°～86°),最后随访时为86.2°±5.5°(70°～97°).结论 正常儿童股骨近端的Alsberg角随生长发育逐年减小,DDH患儿的Alsberg角较同龄正常儿明显增大,但获得成功复位后,Alsberg角逐渐恢复正常发育.但在发生Ⅱ型股骨头缺血性坏死患儿,治疗后Alsberg角不随年龄减小,反而增大.因此,Alsberg角可能是DDH保守治疗后发生Kalamchi-MacEwenⅡ型股骨头坏死的早期预测指标.     

3D打印导航模板在大龄DDH患儿股骨近端内翻旋转短缩截骨术中的应用

目的 利用逆向工程(reverse engineering,RE)和快速成型(Rapid prototyping,RP)技术设计制备一种适用于大龄发育性髋关节脱位(developmental dysplasia of the hip,DDH)患儿股骨近端内翻旋转短缩截骨术的导航模板.方法 对2014年6月至2014年12月收治的6例(6髋)大龄DDH患儿进行CT连续扫描,根据CT数据使用Mimics和Geomagic Design Direct软件,利用正逆向结合建模设计囊括股骨近端内翻、旋转、短缩截骨术全部手术参数及步骤在内的导航模板.通过熔积成型(fused deposition modeling,FDM)法RP技术生产实物模板,手术时首先将导航模板与股骨近端相吻合,置入导针后,沿导航模板进行截骨,撤离导板后利用导针为操纵杆进行内翻、旋转及短缩并插入对应钢板钉孔内,于导针针道依次旋人皮质螺钉完成手术.结果 术前规划、模拟手术及术中操作一致,平均手术时长18 min,最长21 min,最短14 min,手术时间及射线暴露次数大幅降低,术后随访12～18个月,根据Mckay临床疗效评定标准:优4(66.7％)、良1(16.7％)、可1(16.7％),优良率达83.3％;SeverinX线评定标准:Ⅰ级5髋(83.3％)、Ⅱ级1髋(16.7％),优良率达100％,无1例出现再脱位和股骨头缺血坏死等并发症.结论 利用RE和RP技术制作的导航模板应用于大龄DDH患儿股骨近端内翻旋转短缩截骨术,可以简化手术步骤、节约手术时间、提高手术精确性、确保手术疗效,为大龄DDH患儿精准医疗提供新方法.     

Treatment and prevention of hip dysplasia in infants and young children

The diagnosis and treatment of developmental dysplasia of the hip in the infant are uniform, with consensus that diagnostic ultrasound and Pavlik harness management are standard procedures. Sequential procedures for failed early treatment, residual dysplasia and late diagnosis are dependent on the age and the severity of the dysplasia.     

Perinatal risk factors for developmental dysplasia of the hip

AIMS—To identify perinatal risk factors for developmental dysplasia of the hip (DDH) and define the risk for each factor.METHODS—In this case control study, using logistic regression analysis, all 1127 cases of isolated DDH live born in South Australia in 1986-93 and notified to the South Australian Birth Defects Register were included; controls comprised 150 130 live births in South Australia during the same period without any notified congenital abnormalities.RESULTS—Breech presentation, oligohydramnios, female sex and primiparity were confirmed as risk factors for DDH. Significant findings were an increased risk for vaginal delivery over caesarean section for breech presentation (as well as an increased risk for emergency section over elective section), high birthweight (?4000 g), postmaturity and older maternal age; multiple births and preterm births had a reduced risk. There was no increased risk for caesarean section in the absence of breech presentation. For breech presentation, the risk of DDH was estimated to be at least 2.7% for girls and 0.8% for boys; a combination of factors increased the risk.CONCLUSIONS—It is suggested that the risk factors identified be used as indications for repeat screening at 6 weeks of age and whenever possible in infancy. Other indications are family history and associated abnormalities.     

大龄儿童发育性髋关节脱位的手术治疗

目的 探讨大龄儿童发育性髋关节脱位的手术治疗方法.方法 手术治疗6岁及以上大龄儿童发育性髋关节脱位39例(48髋),平均手术年龄8.5岁,有8例(11髋)为手术后再脱位的患儿.手术方式有Salter骨盆截骨术4例(6髋),Pemberton髋周截骨术19例(22髋),Dega截骨术12例(16髋);Westin截骨术4例(4髋).其中髋臼软骨有明显缺损,软骨下松质骨部分裸露23例(28髋),取自体股骨近端游离骨膜移植修复.全部病例均行股骨粗隆下去旋转短缩截骨,短缩2～4.5 cm(平均2.8 cm);去旋转25°～45°(平均32°),保留股骨颈前倾角10°～15°,股骨截骨处以鹅头钉或四孔钢板固定.结果 术后获得随访36例(45髋).随访时间5～10年(平均7.2年).随访结果按Mckay临床疗效标准,优17髋(37.8%)、良18髋(40.0%)、可6髋(13.3%)、差4髋(8.9%),优良率达77.8%;按Severin X线评定标准,优19髋(42.2%)、良17髋(37.8%)、可7髋(15.6%)、差2髋(4.4%),优良率达80.0%.术后髋臼指数平均降至18°;CE角平均30°;髋臼覆盖率达平均95%.术后半脱位2例(4.4%),股骨头缺血坏死4例(8.9%),髋关节功能障碍(屈曲＜60°)6例(13.3%).结论 大龄儿童DDH病理改变复杂,术前应根据X线片、CT等检查予以全面评估,制定个性化手术方案;术中松解内收肌和髂腰肌,联合股骨短缩去旋转截骨术,力争达到头臼中心性复位,并在此基础上重建髋臼;对关节软骨面缺损明显者,可移植自体游离骨膜予以修复;术后早期不负重功能锻炼、持续被动活动等,可以显著降低术后再脱位、关节僵硬、股骨头坏死等并发症,获得较满意的疗效.