scholarly journals Developmental Dysplasia of Hip: Perspectives in Genetic Screening

2019 ◽  
Vol 7 (4) ◽  
pp. 59 ◽  
Author(s):  
Zamborsky ◽  
Kokavec ◽  
Harsanyi ◽  
Attia ◽  
Danisovic
Keyword(s):  
Psychological Health ◽  
Screening Program ◽  
Wide Spectrum ◽  
Association Studies ◽  
Modern Medicine ◽  
Developmental Dysplasia ◽  
Developmental Dysplasia Of Hip ◽  
Lack Of Information ◽  
Genome Wide ◽  
Dysplasia Of The Hip

Development dysplasia of the hip (DDH) is a complex developmental disorder despite being a relatively common condition mainly caused by incompatibility of the femoral head and the abnormal joint socket. Development dysplasia of the hip describes a wide spectrum of disorders ranging from minor acetabular dysplasia to irreducible dislocation of the hip. Modern medicine still suffers from lack of information about screening and precise genetic examination. Genome wide linkage and association studies have brought significant progress to DDH diagnosis. Association studies managed to identify many candidate (susceptible) genes, such as PAPPA2, COL2A1, HOXD9, GDF-5, and TGFB1, which play a considerable role in the pathogenesis of DDH. Early detection of DDH has a big chance to help in preventing further disability and improve the psychological health and quality of life in those children. This emphasizes the importance to establish a universal screening program along with the genetic counseling.

scholarly journals Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects

Medicina ◽  
2020 ◽  
Vol 56 (4) ◽  
pp. 153 ◽  
Author(s):  
Stefan Harsanyi ◽  
Radoslav Zamborsky ◽  
Lubica Krajciova ◽  
Milan Kokavec ◽  
Lubos Danisovic
Keyword(s):  
Risk Factors ◽  
Candidate Genes ◽  
Association Studies ◽  
Developmental Dysplasia ◽  
Genome Wide Association Studies ◽  
Factors Affecting ◽  
Candidate Gene Association ◽  
Genome Wide ◽  
Proliferation And Differentiation ◽  
Dysplasia Of The Hip

As one of the most frequent skeletal anomalies, developmental dysplasia of the hip (DDH) is characterized by a considerable range of pathology, from minor laxity of ligaments in the hip joint to complete luxation. Multifactorial etiology, of which the candidate genes have been studied the most, poses a challenge in understanding this disorder. Candidate gene association studies (CGASs) along with genome-wide association studies (GWASs) and genome-wide linkage analyses (GWLAs) have found numerous genes and loci with susceptible DDH association. Studies put major importance on candidate genes associated with the formation of connective tissue (COL1A1), osteogenesis (PAPPA2, GDF5), chondrogenesis (UQCC1, ASPN) and cell growth, proliferation and differentiation (TGFB1). Recent studies show that epigenetic factors, such as DNA methylation affect gene expression and therefore could play an important role in DDH pathogenesis. This paper reviews all existing risk factors affecting DDH incidence, along with candidate genes associated with genetic or epigenetic etiology of DDH in various studies.

A genome‐wide association study identifies new genes associated with developmental dysplasia of the hip

2019 ◽  
Vol 95 (3) ◽  
pp. 345-355 ◽  
Author(s):  
Wenjin Yan ◽  
Zheng Hao ◽  
Shuyan Tang ◽  
Jin Dai ◽  
Liming Zheng ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Developmental Dysplasia ◽  
Genome Wide Association ◽  
New Genes ◽  
Genome Wide ◽  
A Genome ◽  
Dysplasia Of The Hip

scholarly journals Developmental dysplasia of the hip: update of management

2019 ◽  
Vol 4 (9) ◽  
pp. 548-556 ◽  
Author(s):  
Alfonso Vaquero-Picado ◽  
Gaspar González-Morán ◽  
Enrique Gil Garay ◽  
Luis Moraleda
Keyword(s):  
Physical Examination ◽  
Open Reduction ◽  
Acetabular Dysplasia ◽  
Wide Spectrum ◽  
Positive Family History ◽  
Developmental Dysplasia ◽  
Ultrasound Screening ◽  
Spontaneous Correction ◽  
Hip Reduction ◽  
Dysplasia Of The Hip

The term ‘developmental dysplasia of the hip’ (DDH) includes a wide spectrum of hip alterations: neonatal instability; acetabular dysplasia; hip subluxation; and true dislocation of the hip. DDH alters hip biomechanics, overloading the articular cartilage and leading to early osteoarthritis. DDH is the main cause of total hip replacement in young people (about 21% to 29%). Development of the acetabular cavity is determined by the presence of a concentrically reduced femoral head. Hip subluxation or dislocation in a child will cause an inadequate development of the acetabulum during the remaining growth. Clinical screening (instability manoeuvres) should be done universally as a part of the physical examination of the newborn. After two or three months of life, limited hip abduction is the most important clinical sign. Selective ultrasound screening should be performed in any child with abnormal physical examination or in those with high-risk factors (breech presentation and positive family history). Universal ultrasound screening has not demonstrated its utility in diminishing the incidence of late dysplasia. Almost 90% of patients with mild hip instability at birth are resolved spontaneously within the first eight weeks and 96% of pathologic changes observed in echography are resolved spontaneously within the first six weeks of life. However, an Ortolani-positive hip requires immediate treatment. When the hip is dislocated or subluxated, a concentric and stable reduction without forceful abduction needs to be obtained by closed or open means. Pavlik harness is usually the first line of treatment under the age of six months. Hip arthrogram is useful for guiding the decision of performing a closed or open reduction when needed. Acetabular dysplasia improves in the majority due to the stimulus provoked by hip reduction. The best parameter to predict persistent acetabular dysplasia at maturity is the evolution of the acetabular index. Pelvic or femoral osteotomies should be performed when residual acetabular dysplasia is present or in older children when a spontaneous correction after hip reduction is not expected. Avascular necrosis is the most serious complication and is related to: an excessive abduction of the hip; a force closed reduction when obstacles for reduction are present; a maintained dislocated hip within the harness or spica cast; and a surgical open reduction.Cite this article: EFORT Open Rev 2019;4:548-556. DOI: 10.1302/2058-5241.4.180019

scholarly journals The Genetic Epidemiology of Developmental Dysplasia of the Hip: A Genome-Wide Association Study Harnessing National Clinical Audit Data

2017 ◽  
Author(s):  
Konstantinos Hatzikotoulas ◽  
Andreas Roposch ◽  
Karan Shah ◽  
Matthew Clark ◽  
Selina Bratherton ◽  
...  
Keyword(s):  
Association Study ◽  
Genetic Architecture ◽  
Genome Wide Association Study ◽  
Clinical Audit ◽  
Developmental Dysplasia ◽  
Small Sample ◽  
Recruitment Strategy ◽  
Genome Wide Association ◽  
Genome Wide ◽  
Dysplasia Of The Hip

Background: Developmental dysplasia of the hip (DDH) is a common, heritable condition characterised by abnormal formation of the hip joint, but has a poorly understood genetic architecture due to small sample sizes. We apply a novel case-ascertainment approach using national clinical audit (NCA) data to conduct the largest DDH genome-wide association study (GWAS) to date, and replicate our findings in independent cohorts. Methods: We used the English National Joint Registry (NJR) dataset to collect DNA and conducted a GWAS in 770 DDH cases and 3364 controls. We tested the variant most strongly associated with DDH in independent replication cohorts comprising 1129 patients and 4652 controls. Results: The heritable component of DDH attributable to common variants was 55% and distributed similarly across autosomal and the X-chromosomes. Variation within the GDF5 gene promoter was strongly and reproducibly associated with DDH (rs143384, OR 1.44 [95% CI 1.34-1.56], p=3.55x1022). Two further replicating loci showed suggestive association with DDH near NFIB (rs4740554, OR 1.30 [95% CI 1.16-1.45], p=4.44x10-6) and LOXL4 (rs4919218, 1.19 [1.10-1.28] p=4.38x10-6). Through gene-based enrichment we identify GDF5, UQCC1, MMP24, RETSAT and PDRG1 association with DDH (p<1.2x10-7). Using the UK Biobank and arcOGEN cohorts to generate polygenic risk scores we find that risk alleles for hip osteoarthritis explain <0.5% of the variance in DDH susceptibility. Conclusion: Using the NJR as a proof-of-principle, we describe the genetic architecture of DDH and identify several candidate intervention loci and demonstrate a scalable recruitment strategy for genetic studies that is transferrable to other complex diseases.

scholarly journals Self-reported knowledge of national guidelines for clinical screening for hip dysplasia: a web-based survey of midwives and general practitioners in Denmark

BJGP Open ◽  
2021 ◽  
pp. BJGPO.2021.0068
Author(s):  
Hans-Christen Husum ◽  
Rikke Damkjær Maimburg ◽  
Søren Kold ◽  
Janus Laust Thomsen ◽  
Ole Rahbek
Keyword(s):  
General Practitioners ◽  
Correct Answer ◽  
Screening Program ◽  
Developmental Dysplasia ◽  
Further Education ◽  
Survey Study ◽  
National Guidelines ◽  
Web Based ◽  
Hip Abduction ◽  
Dysplasia Of The Hip

BackgroundThe positive predictive value of clinical hip examinations performed by generalist health professionals in screening for developmental dysplasia of the hip (DDH) is low.AimTo assess the self-reported recognition of nationally recommended clinical hip examinations in the screening programme for DDH in Denmark among midwives, general practitioners (GPs), and GPs in training.Design & settingA web based open survey study among Danish midwives, GPs and GPs in trainingMethodRespondents were asked to identify which of six written statements of clinical hip examinations were featured in the national Danish guidelines on DDH screening. Three statements were the official statements of the Ortolani, Galeazzi, and hip abduction examinations from the national guidelines and three statements were false and constructed by the author group. Participants were asked to select up to six statements.ResultsA total of 178 (58 GPs, 97 midwives and 23 GPs in training) responses were included.Eighty-nine per cent of responders correctly identified the Ortolani manoeuvre and 92% correctly identified one of the constructed descriptions as being false. The remaining four descriptions had significantly lower correct answer percentages ranging from 41% to 58% with significantly lower correct answer percentages of midwives for three out of all six descriptions when compared to GPs.ConclusionWe conclude that the recognition of two out of three recommended clinical hip examinations in the Danish screening program for DDH is overall low among current screeners. Efforts should be made to heighten the knowledge level by further education of screeners.

Developmental Dysplasia of the Hip

PEDIATRICS ◽  
1994 ◽  
Vol 94 (2) ◽  
pp. 201-208
Author(s):  
David D. Aronsson ◽  
Michael J. Goldberg ◽  
Thomas F. Kling ◽  
Dennis R. Roy
Keyword(s):  
Early Detection ◽  
Physical Examination ◽  
Wide Spectrum ◽  
Developmental Dysplasia ◽  
Health Examination ◽  
Screening Examination ◽  
Neonatal Hip ◽  
Associated Risk Factors ◽  
Dysplasia Of The Hip ◽  
Pelvis Radiograph

Objective. The definition and early treatment of congenital dysplasia of the hip are controversial. The purpose of this study was to discuss the reasons for changing the acronym to developmental dysplasia of the hip (DDH) and to address its early detection and treatment. Design. This multicenter study was designed to provide an updated assessment of the definition, pathologic anatomy, prevalence, etiology, natural history, early detection, and treatment of DDH. Results. DDH more accurately describes the condition previously termed congenital dysplasia of the hip. The disorder is not always present at birth (congenital) and an infant may have a normal neonatal hip screening examination and subsequently develop a dysplastic or dislocated hip. Developmental dysplasia encompasses the wide spectrum of hip problems seen in infants and children. Physicians should understand that a normal neonatal screening examination does not assure normal hip development. The diagnosis of developmental dysplasia is made by physical examination. The Ortolani and Barlow maneuvers were designed to detect a subluxatable, dislocatable, or dislocated hip in the neonatal period. In the older child, limited abduction becomes a more reliable sign. The examination is variable depending on the type of dysplasia and changes with growth. The ultrasound is proving to be a sensitive tool in confirming the diagnosis in newborns and infants from birth to 4 months of age. The ultrasound is also valuable in older infants in terms of documenting that the dysplasia is responding to treatment. However, the ultrasound depends on an experienced sonographer and, in some cases, may be too sensitive, resulting in overtreatment. After 3 to 4 months of age, an anteroposterior pelvis radiograph can confirm the diagnosis. Conclusions. All newborns should have a neonatal hip screening physical examination. After screening, the hips should be re-examined during health examination visits at 2 weeks, 2 months, 4 months, 6 months, 9 months, and 1 year of age. If any question arises during these visits or if there are associated risk factors, we recommend an ultrasound if the infant is &lt;4 months of age or an anteroposterior pelvis radiograph if &gt;4 months of age.

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