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.     

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.     

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.     

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。     

Value of limited hip abduction in developmental dysplasia of the hip

BACKGROUND: Developmental dysplasia of the hip (DDH) continues to be missed by routine physical examination in up to 50% of cases. Ultrasound (US) supplementation is the best method of screening for DDH, but the resources required should not be underestimated. Limited abduction of the hip (LHA) in an infant triggers suspicion, and often an urge to treat, in most orthopaedic surgeons and pediatricians alike. This study aimed to document the value of unilateral LHA in the diagnosis and decision making of DDH, and the correlation between LHA and US. METHODS: In total, 464 infants referred from the pediatrics clinic with LHA, aged between 30 and 120 days, were included in the study. RESULTS: Physical examination revealed LHA in 186 (41%) infants, 26 of which were unilateral and 160 were bilateral. US examination showed that 13 (8.1%) patients in the bilateral LHA group and 18 (69.2) patients in the unilateral LHA group, had DDH (total number 31, 7%). CONCLUSION: Unilateral limitation of hip abduction was found to be a sensitive sign for developmental hip dysplasia, but US could be defined once again as the best golden standard before initiating treatment.     

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.     

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.     

Congenital dislocation of the hip: a prospective study comparing ultrasound and clinical examination

Screening for congenital dislocation of the hip by standard clinical methods and ultrasound was compared prospectively in 1503 newborns (1291 girls and 212 boys). A total of 82.8% of the hips (78.8% of the infants) had well developed acetabulae, 14.5% (17.2% of the infants) were shallow (immature) and 2.7% (4.1% of the infants) were dysplastic. Within 1-3 months 96.7% of the infants with clinically stable, but immature hips normalized, while 3.3% did not improve or worsened, and therapy was therefore initiated. Indications for treatment included dysplastic and/or clinically unstable hips, and a higher number of newborns were treated during the study period than in 1982-85 (31.2 vs 19.7 per 1000, p = 0.0002). Thirty-seven percent of the patients had both clinical and ultrasound findings compatible with congenital dislocation of the hip, while the decision to treat was based on clinical findings alone in 25.0% and on ultrasound findings in 38.0%. Infants born during the study period of nine months had a low incidence of late congenital dislocation of the hip compared with our earlier reported results from 1982-85 (0.9 vs 3.5 per 1000, p = 0.012). The study demonstrated major discrepancies between clinical and ultrasound evaluation of hips in the newborn, and the role of ultrasound in the screening for congenital dislocation of the hip requires further evaluation.     

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.     

新生儿发育性髋关节异常筛查结果分析

目的 探讨新生儿发育性髋关节异常(DDH)的发病情况.方法 选取2008年6月-2009年7月在本院住院和门诊就诊的762例足月新生儿(男382例,女380例).患儿均采用Graf法和Morin法相结合的超声检查手段进行髋关节测量.参照Graf分类方法将髋关节发育不良、髋关节半脱位和髋关节全脱位者定为DDH.对髋关节发育不良患儿采取随访观察,而对髋关节半脱位和髋关节全脱位的DDH患儿行早期Pavlik吊带治疗,同时采用超声跟踪随访6个月,以进一步决定治疗方案.结果 1.143例DDH新生儿中髋关节脱位的发病率为0.52%,髋关节发育不良的发病率为18.25%;2.健康新生儿619例髋关节超声测量指标α角、β角、股骨头覆盖率的正常值分别为(60.19±6.92)度、(45.25±7.29)度、(62.85±6.38)%,DDH患儿分别为(44.52±7.53)度、(58.45±10.36)度、(37.65±7.74)%,二组超声测量指标比较差异均有统计学意义(Pa<0.05);3.性别、胎位、分娩产式、左侧等均为髋关节脱位的高危因素.结论 1.超声检查是新生儿DDH筛查的首选方法.2.明确新生儿髋关节发育的指标、DDH的发病率及相关高危因素,有利于减少DDH发生,同时早期发现DDH、尽早治疗,可改善患儿预后.     

Neonatal hip instability: results and experiences from ten years of screening with the anterior-dynamic ultrasound method

AIM: To record the results and experiences from a 10-y screening period with the anterior-dynamic ultrasound method for detecting neonatal hip instability. METHODS: An ultrasonographic improvement of the Palmén/Barlow test was used. The screening programme included 22,047 newborns. Decisions about treatment were made solely on the ultrasound result. RESULTS: It was found that 175 infants (7.9/1000) had at least one unstable hip--dislocated or dislocatable. Dislocated hips were found in 1.1/1000. Dislocatable hips were found in 6.8/1000 but only 1.1/1000 needed treatment. The total frequency of treatment was 2.2/1000. All cases but one were diagnosed before discharge from the maternity ward. The rate of surgery was 0.1/1000 newborns. Girls were more affected than boys, by a ratio of 3:1. Among the affected hips 64.4% were a left hip. CONCLUSION: Neonatal hip instability is always present at birth and can be diagnosed immediately after birth. We have no indications that instability can appear at a later stage. The anterior-dynamic ultrasound screening programme is an efficient tool to diagnose neonatal hip instability and to decide when to begin treatment.     

新生儿髋关节筛查资料分析

目的 探讨超声及临床髋关节检查在新生儿发育性髋关节发育不良（DDH）早期筛查中的意义.方法 采用前瞻性的方法,分两阶段对我院2011年8月1日至2013年3月29日出生的新生儿分别进行髋关节临床检查和超声检查,并对筛查结果进行分析.第一阶段为2011年8月1日至2013年1月29日,筛查出生3 ～ 10天的新生儿,了解我院新生儿DDH的患病率、DDH发生的高危因素,以及髋关节超声筛查和临床物理检查两者之间的吻合度等.第二阶段为2013年1月30日至2013年3月29日,对初诊与复诊的一致性及灵敏度和特异度进行调查.结果 第一阶段共筛查5193例新生儿,临床髋关节检查阳性616例（11.86％）,超声检查阳性556例（10.71％）.男、女超声阳性率分别为6.41％和15.78％.臀位及羊水量少的新生儿超声检查阳性率分别为10.55％和13.00％.男、女左、右髋超声分度比较和男、女左髋、右髋、双髋超声检查比较显示,女婴、臀位、羊水量少、右髋发生DDH的风险高,差异有统计学意义（P＜0.05）.第二阶段共筛选出符合超声初查和复查双条件的新生儿108例,初诊与复诊结果差异无统计学意义（P＞0.05）.ROC曲线下面积为0.675（95％ CI：0.183～1.000）.阳性预测值5.88％,阴性预测值98.90％.灵敏度及特异度的95％可信区间分别为50.00％ （95％ CI：1.26％ ～ 98.70％）,84.90％（95％ CI：76.60％ ～91.10％）.结论 超声进行新生儿髋关节DDH检查排除性诊断的意义大.运用髋关节临床及超声检查筛查新生儿DDH简便、安全,可早期发现可疑及异常病例,有利于门诊随访和早期干预.     

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.     

股骨颈前倾角数字解剖在发育性髋关节脱位手术中的应用

目的探讨发育性髋关节脱位(DDH)股骨颈前倾角(FNA)的病理改变,并利用髋关节的三维(3D)CT影像指导手术。方法DDH患儿90例。术前双侧髋关节薄层平扫加3D重建,并指导术中截骨,前倾角>45度作旋转截骨;术后双侧髋关节再行薄层平扫加3D重建,分别计算其FNA,正常侧髋分别与患侧术前及术后比较,90例90髋获得3个月~2a随访(平均13个月)。结果18个月~6岁组正常侧FNA:(19.40±3.512)度,脱位侧FNA:(68.45±12.272)度,术后FNA:(20.45±2.940)度;>6岁组正常侧FNA:(19.44±3.561)度,脱位侧FNA:(73.49±12.678)度,术后FNA:(18.28±1.931)度。疗效评定采用Mckay髋关节功能评定标准,术后优良率达95.6%。结论螺旋CT的3D重建方法简单、精确、可重复性强,可作动画、可视化重建,是测量FNA理想的方法,对DDH的治疗具有指导意义。     

Ultrasonographic evaluation of breech presentation as a risk factor for hip dysplasia

In order to gain more information of breech position as a risk factor for congenital hip dysplasia or dislocation, the hips of 408 newborns delivered in the breech position were examined by ultrasound. Clinical examination was performed by both experienced paediatricians and orthopaedic surgeons. The infants were re-examined by ultrasound at 2–3 months of age. Twenty-five newborns (6.1%) had neonatal hip instability. Breech presentation as a risk factor was confirmed, with first borns, breech position with extended knees, and high birthweight as special high-risk groups. Ultrasound showed subluxation in most of the unstable hips. The main benefit of using ultrasound was that direct visualization permitted more reliable evaluation, especially when the clinical findings were uncertain. Normal ultrasound findings in false positive and uncertain Ortolani tests reduced the frequency of unnecessary treatment. Because ultrasound was used in follow-up, the need of radiography was reduced. There were no late-detected cases of hip dysplasia or dislocation, indicating that routine follow-up is not necessary in breech infants with normal hips at birth, provided that the neonatal screening is optimal.