Materiały źródłowe

• #1 Developmental dysplasia of the hip: Epidemiology and pathogenesis – UpToDate

  https://www.uptodate.com/contents/developmental-dysplasia-of-the-hip-epidemiology-and-pathogenesis

  Developmental dysplasia of the hip (DDH) describes a spectrum of conditions related to the development of the hip in infants and young children. It encompasses abnormal development of the acetabulum and proximal femur and mechanical instability of the hip joint. […] The epidemiology and pathogenesis of DDH in otherwise healthy children will be reviewed here.

• #2 Developmental dysplasia of the hip: Epidemiology and pathogenesis – UpToDate

  https://www.uptodate.com/contents/developmental-dysplasia-of-the-hip-epidemiology-and-pathogenesis/print

  Developmental dysplasia of the hip (DDH) describes a spectrum of conditions related to the development of the hip in infants and young children. It encompasses abnormal development of the acetabulum and proximal femur and mechanical instability of the hip joint. […] The epidemiology and pathogenesis of DDH in otherwise healthy children will be reviewed here. […] Estimates of the incidence of DDH are quite variable and depend upon the means of detection, the age of the child, and the diagnostic criteria.

• #3 Hip Dysplasia | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/hip-dysplasia

  The hip is a ball-and-socket joint. Normally, the ball at the top of the thigh bone fits into the hip socket. Hip dysplasia occurs when the hip joint has not developed properly and the socket (acetabulum) is too shallow. This allows the ball (femoral head) to slip partially or completely out of the joint. Hip dysplasia ranges from a mild abnormality to a complete dislocation of the hip. […] Hip dysplasia is a treatable condition. However, if left untreated, it can cause irreversible damage that will cause pain and loss of function later in life. It is the leading cause of early arthritis of the hip before the age of 60. The severity of the condition and catching it late increase the risk of arthritis. Therefore, monitoring and early intervention are both important to reduce a child’s risk of pain and disability in adulthood.

• #4 Developmental Dysplasia of the Hip – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK563157/

  Hip joint formation highly depends on the dynamic relationship between the femur and the acetabulum. Any interference with proper contact between these 2 in utero or infancy (eg, improper swaddling) leads to developmental dysplasia of the hip. […] However, in utero, femoral head growth is faster than acetabulum growth, resulting in under-coverage of the femoral head; therefore, any disturbance in the contact will lead to abnormal development. The acetabulum continues to grow up to age 5 years. […] Consequently, misaligned contact between the acetabulum and femur may result in instability, dysplasia (eg, underdevelopment of the acetabulum), subluxation with some contact between the acetabulum and femur, or dislocation. Furthermore, chronic changes like hypertrophy of the capsule, ligament teres, and the formation of thickened acetabular edge (ie, neolimbus) further impede contact and prevent the relocation of the femoral head.

• #5 The Pathogenesis of Hip Dysplasia | IVIS

  https://www.ivis.org/library/mechanisms-of-disease-small-animal-surgery-3rd-ed/pathogenesis-of-hip-dysplasia

  The joint capsules of dysplastic hips contain a higher ratio of type III to type I collagen in comparison with those of normal greyhounds. Whether this is because of tissue immaturity, injury, endocrine imbalance or a genetic abnormality is unknown. […] The second broad etiologic category of CHD is an abnormality in endochondral ossification. The developing hip is composed of two articulating surfaces: the proximal femoral capital chondroepiphysis and the acetabulum. […] In the developing acetabulum are four anlagen that give rise to the ilium, ischium, pubis, and acetabular bone, all contributing to the mature acetabulum. Each anlage has a primary center of ossification and a growth plate that results in growth of each anlage away from the center of the acetabulum. […] For normal hip joint formation and conformation to occur, proper contact, load, and congruence between the femoral head and the acetabulum are required. This is demonstrated by the success of pelvic harnesses for the treatment of dysplastic human hips. In CHD, this contact is interrupted.

• #6 Developmental Dysplasia of the Hip – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK563157/

  Hip joint formation highly depends on the dynamic relationship between the femur and the acetabulum. Any interference with proper contact between these 2 in utero or infancy (eg, improper swaddling) leads to developmental dysplasia of the hip. […] However, in utero, femoral head growth is faster than acetabulum growth, resulting in under-coverage of the femoral head; therefore, any disturbance in the contact will lead to abnormal development. The acetabulum continues to grow up to age 5 years. […] Consequently, misaligned contact between the acetabulum and femur may result in instability, dysplasia (eg, underdevelopment of the acetabulum), subluxation with some contact between the acetabulum and femur, or dislocation. Furthermore, chronic changes like hypertrophy of the capsule, ligament teres, and the formation of thickened acetabular edge (ie, neolimbus) further impede contact and prevent the relocation of the femoral head.

• #7 Detecting Developmental Dysplasia of the Hip – Page 3

  https://www.medscape.com/viewarticle/452673_3

  An understanding of the embryology and postnatal growth and development of the hip is essential to a more complete understanding of this unique disorder. Four critical developmental periods for hip dislocation have been identified and include the following: 12 weeks gestation, 18 weeks gestation, 36 to 40 weeks gestation, and the postnatal period. […] If the head of the femur is not positioned properly in the acetabulum, or if movement of the femoral head is reduced, normal bone modeling and a shallow hip socket may develop. […] The first critical period for hip dislocation occurs at 12 weeks gestation when the fetal lower limbs rotate nearly 90 medially, so that the knees point anteriorly and the hips assume their normal position in the pelvis. Dislocations that occur at this stage are labeled teratologic because they will have further impact on all of the ongoing elements of hip development.

• #8 Detecting Developmental Dysplasia of the Hip – Page 3

  https://www.medscape.com/viewarticle/452673_3

  Eighteen weeks gestation is the second critical period in hip development because this is the time that the surrounding muscles develop. Normal fetal movements stretch the developing ligaments and ensure proper position of the femur in the acetabulum. […] The last 4 weeks of pregnancy is the third critical period for DDH. During this stage, mechanical forces related to the infant’s position (ie, breech) or uterine forces (ie, oligohydramnios) limit movement and can disrupt normal development. […] The fourth critical period occurs postnatally when the infant moves from the fetal position of hip flexion to the postnatal position of extension. It is during this time that many cases of DDH develop. […] If dislocation is persistent, the femoral head will flatten and the acetabulum will become shallow and exhibit disrupted ossification. The femur is then further displaced superiorly, and eventually an hourglass deformity of the joint results from constriction of the joint capsule. The fascia and adductor muscles around the hip further shorten in response to this aberrant developmental sequence, making closed reduction difficult or impossible.

• #9 Hip Dysplasia | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/hip-dysplasia

  The hip is a ball-and-socket joint. Normally, the ball at the top of the thigh bone fits into the hip socket. Hip dysplasia occurs when the hip joint has not developed properly and the socket (acetabulum) is too shallow. This allows the ball (femoral head) to slip partially or completely out of the joint. Hip dysplasia ranges from a mild abnormality to a complete dislocation of the hip. […] Hip dysplasia is a treatable condition. However, if left untreated, it can cause irreversible damage that will cause pain and loss of function later in life. It is the leading cause of early arthritis of the hip before the age of 60. The severity of the condition and catching it late increase the risk of arthritis. Therefore, monitoring and early intervention are both important to reduce a child’s risk of pain and disability in adulthood.

• #10

  https://www.vin.com/apputil/content/defaultadv1.aspx?pId=11181&meta=generic&catId=30093&id=3852279

  Hip dysplasia is a complex developmental disease that primarily affects larger breeds of dog. The crucial event in the pathogenesis of hip dysplasia is the development of coxofemoral instability. […] Affected animals have a normal hip at birth but the development of the supporting soft tissues fails to keep pace with skeletal growth and leads to loss of congruity between the femoral head and the acetabulum. Possible reasons for abnormal development of the hip include: Delayed ossification of the femoral head, Reduced hyaluronic acid concentration leading to joint laxity, Increased ratio of collagen type III in supportive tissue may be responsible for coxofemoral joint laxity. […] The main factors predisposing to subluxation that are considered from radiographs particularly in assessing future treatment are: Insufficient dorsal acetabular rim („shallow acetabulum”), Increased angles of inclination (coxa valga) and anteversion of the femoral neck.

• #11 The Pathogenesis of Hip Dysplasia | IVIS

  https://www.ivis.org/library/mechanisms-of-disease-small-animal-surgery-3rd-ed/pathogenesis-of-hip-dysplasia

  Canine hip dysplasia (CHD) is one of the most common orthopedic complaints in dogs. The severity of clinical signs can vary from occasional lameness to severe dysfunction. It is a complex, polygenic or multifactorial disease which results in osteoarthritis (OA) of the hip joint. This developmental trait is inherited quantitatively and is expressed clinically and morphologically in response to heritable and environmental influences. […] Dogs affected with hip dysplasia seem to have normal hip joints at birth, but joint laxity accompanied by incongruity develops as early as the first few weeks of life. It is postulated that initial joint laxity leads to subsequent subluxation of the hip joint during weight-bearing, causing tension on the joint capsule. This trauma is followed by joint capsule thickening, osteophytosis, and enthesophyte formation. The underlying etiology of joint laxity is unknown.

• #12 The pathogenesis of canine hip dysplasia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/1604767/

  Dogs with CHD are born with normal hips that subsequently undergo varying degrees of subluxation of the coxofemoral joint. Although the etiology of CHD is multifactorial, the pathogenesis or stages of change within the affected coxofemoral joint(s) are similar regardless of cause. With the onset of the disease, there are progressive structural changes including joint laxity and femoral head subluxation; swelling, stretching, fraying, and eventual rupture of the teres ligament; a shallow, flattened acetabulum, deformity of the head; erosion of articular cartilage, eburnation of subchondral bone, DJD; and periarticular osteophyte formation.

• #13 Hip Dysplasia in Dogs – Musculoskeletal System – Merck Veterinary Manual

  https://www.merckvetmanual.com/musculoskeletal-system/arthropathies-and-related-disorders-in-small-animals/hip-dysplasia-in-dogs

  Hip dysplasia is a multifactorial abnormal development of the coxofemoral joint in dogs that is characterized by joint laxity and subsequent degenerative joint disease. […] The pathophysiologic basis for hip dysplasia is a disparity between hip joint muscle mass and rapid bone development. As a result, coxofemoral joint laxity or instability develops and subsequently leads to degenerative joint changes, eg, acetabular bone sclerosis, osteophytosis, thickened femoral neck, joint capsule fibrosis, and subluxation or luxation of the femoral head.

• #14

  https://www.vin.com/apputil/content/defaultadv1.aspx?pId=11181&meta=generic&catId=30093&id=3852279

  Hip dysplasia is a complex developmental disease that primarily affects larger breeds of dog. The crucial event in the pathogenesis of hip dysplasia is the development of coxofemoral instability. […] Affected animals have a normal hip at birth but the development of the supporting soft tissues fails to keep pace with skeletal growth and leads to loss of congruity between the femoral head and the acetabulum. Possible reasons for abnormal development of the hip include: Delayed ossification of the femoral head, Reduced hyaluronic acid concentration leading to joint laxity, Increased ratio of collagen type III in supportive tissue may be responsible for coxofemoral joint laxity. […] The main factors predisposing to subluxation that are considered from radiographs particularly in assessing future treatment are: Insufficient dorsal acetabular rim („shallow acetabulum”), Increased angles of inclination (coxa valga) and anteversion of the femoral neck.

• #15

  https://www.vin.com/proceedings/Proceedings.plx?CID=WSAVA2004&Category=1267&PID=8730&O=Generic

  Hip dysplasia is a complex developmental disease that primarily affects larger breeds of dog. The crucial event in the pathogenesis of hip dysplasia is the development of coxofemoral instability. […] Affected animals have a normal hip at birth but the development of the supporting soft tissues fails to keep pace with skeletal growth and leads to loss of congruity between the femoral head and the acetabulum. Possible reasons for abnormal development of the hip include: Delayed ossification of the femoral head, Reduced hyaluronic acid concentration leading to joint laxity, Increased ratio of collagen type III in supportive tissue may be responsible for coxofemoral joint laxity, Development of the dysplastic hip and radiographic changes. […] The main factors predisposing to subluxation that are considered from radiographs particularly in assessing future treatment are: Insufficient dorsal acetabular rim („shallow acetabulum”), Increased angles of inclination (coxa valga) and anteversion of the femoral neck.

• #16 The pathogenesis of canine hip dysplasia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/1604767/

  Dogs with CHD are born with normal hips that subsequently undergo varying degrees of subluxation of the coxofemoral joint. Although the etiology of CHD is multifactorial, the pathogenesis or stages of change within the affected coxofemoral joint(s) are similar regardless of cause. With the onset of the disease, there are progressive structural changes including joint laxity and femoral head subluxation; swelling, stretching, fraying, and eventual rupture of the teres ligament; a shallow, flattened acetabulum, deformity of the head; erosion of articular cartilage, eburnation of subchondral bone, DJD; and periarticular osteophyte formation.

• #17 HJCAM – Ιατρική Ζώων Συντροφιάς – Hellenic Journal of Companion Animal Medicine – Volume 5 – Issue 1 – 2016 – Canine hip dysplasia. Part I: Aetiopathogenesis & diagnostic approach

  https://hjcam.hcavs.gr/en/v5-i1-canine-hip-dysplasia

  The head of a dysplastic hip due to subluxation is tangent only to a small part of the dorsal acetabular rim, which receives much greater forces than it can withstand. The latter results in microfructures and progressive destruction of the articular cartilage of the dorsal acetabular rim, inflammation of the coxofemoral joint and reactive periarticular fibration, progressive deformation of the articular surfaces, remodelling of the dorsal acetabular rim, and osteophyte production. The consequence of all the above is hip osteoarthritis.

• #18 HJCAM – Ιατρική Ζώων Συντροφιάς – Hellenic Journal of Companion Animal Medicine – Volume 5 – Issue 1 – 2016 – Canine hip dysplasia. Part I: Aetiopathogenesis & diagnostic approach

  https://hjcam.hcavs.gr/en/v5-i1-canine-hip-dysplasia

  During development of the hip, the earliest dysplastic joint changes are observed at 30 days of age and are related to the round ligament of the femoral head, which at this stage is primarily responsible for maintaining hip joint stability. […] Increased volume of the ligament of the femoral head and increased synovial fluid volume have been considered the earliest findings of canine hip dysplasia. […] It has been suggested that in dysplastic dogs, it is this excessive lengthening that permits lateral subluxation of the adult hip joint. […] From a bio-mechanical point of view, HD could be attributed to the asynchronous growth between the muscle mass and the skeleton which evolves faster. […] The first radiographic signs of canine HD that can be seen as early as at 7 weeks of age are subluxation of the femoral head and underdevelopment of the craniodorsal acetabular rim.

• #19 HJCAM – Ιατρική Ζώων Συντροφιάς – Hellenic Journal of Companion Animal Medicine – Volume 5 – Issue 1 – 2016 – Canine hip dysplasia. Part I: Aetiopathogenesis & diagnostic approach

  https://hjcam.hcavs.gr/en/v5-i1-canine-hip-dysplasia

  During development of the hip, the earliest dysplastic joint changes are observed at 30 days of age and are related to the round ligament of the femoral head, which at this stage is primarily responsible for maintaining hip joint stability. […] Increased volume of the ligament of the femoral head and increased synovial fluid volume have been considered the earliest findings of canine hip dysplasia. […] It has been suggested that in dysplastic dogs, it is this excessive lengthening that permits lateral subluxation of the adult hip joint. […] From a bio-mechanical point of view, HD could be attributed to the asynchronous growth between the muscle mass and the skeleton which evolves faster. […] The first radiographic signs of canine HD that can be seen as early as at 7 weeks of age are subluxation of the femoral head and underdevelopment of the craniodorsal acetabular rim.

• #20 Pathogenesis, Diagnosis, and Control of Canine Hip Dysplasia | Veterian Key

  https://veteriankey.com/pathogenesis-diagnosis-and-control-of-canine-hip-dysplasia/

  The first radiographic signs of canine hip dysplasia, seen as early as 7 weeks of age, are subluxation of the femoral head and underdevelopment of the craniodorsal acetabular rim. […] In a healthy, congruent hip joint, forces during weight bearing are distributed across the entire cartilaginous surface of the acetabulum. […] For dogs with functional subluxation, it is not known whether the hip is seated properly during the swing phase and then subluxates under the combined load of weight bearing and locomotion or, more likely, whether the hip is subluxated during the swing phase when the limb is not weight bearing. […] At the origin of the cascade leading to hip osteoarthritis is functional hip joint laxity; accordingly, all diagnostic tests aim to assess hip joint laxity in a variety of positions.

• #21 HJCAM – Ιατρική Ζώων Συντροφιάς – Hellenic Journal of Companion Animal Medicine – Volume 5 – Issue 1 – 2016 – Canine hip dysplasia. Part I: Aetiopathogenesis & diagnostic approach

  https://hjcam.hcavs.gr/en/v5-i1-canine-hip-dysplasia

  During development of the hip, the earliest dysplastic joint changes are observed at 30 days of age and are related to the round ligament of the femoral head, which at this stage is primarily responsible for maintaining hip joint stability. […] Increased volume of the ligament of the femoral head and increased synovial fluid volume have been considered the earliest findings of canine hip dysplasia. […] It has been suggested that in dysplastic dogs, it is this excessive lengthening that permits lateral subluxation of the adult hip joint. […] From a bio-mechanical point of view, HD could be attributed to the asynchronous growth between the muscle mass and the skeleton which evolves faster. […] The first radiographic signs of canine HD that can be seen as early as at 7 weeks of age are subluxation of the femoral head and underdevelopment of the craniodorsal acetabular rim.

• #22 Pathogenesis, Diagnosis, and Control of Canine Hip Dysplasia | Veterian Key

  https://veteriankey.com/pathogenesis-diagnosis-and-control-of-canine-hip-dysplasia/

  The first radiographic signs of canine hip dysplasia, seen as early as 7 weeks of age, are subluxation of the femoral head and underdevelopment of the craniodorsal acetabular rim. […] In a healthy, congruent hip joint, forces during weight bearing are distributed across the entire cartilaginous surface of the acetabulum. […] For dogs with functional subluxation, it is not known whether the hip is seated properly during the swing phase and then subluxates under the combined load of weight bearing and locomotion or, more likely, whether the hip is subluxated during the swing phase when the limb is not weight bearing. […] At the origin of the cascade leading to hip osteoarthritis is functional hip joint laxity; accordingly, all diagnostic tests aim to assess hip joint laxity in a variety of positions.

• #23 HJCAM – Ιατρική Ζώων Συντροφιάς – Hellenic Journal of Companion Animal Medicine – Volume 5 – Issue 1 – 2016 – Canine hip dysplasia. Part I: Aetiopathogenesis & diagnostic approach

  https://hjcam.hcavs.gr/en/v5-i1-canine-hip-dysplasia

  The head of a dysplastic hip due to subluxation is tangent only to a small part of the dorsal acetabular rim, which receives much greater forces than it can withstand. The latter results in microfructures and progressive destruction of the articular cartilage of the dorsal acetabular rim, inflammation of the coxofemoral joint and reactive periarticular fibration, progressive deformation of the articular surfaces, remodelling of the dorsal acetabular rim, and osteophyte production. The consequence of all the above is hip osteoarthritis.

• #24 HJCAM – Ιατρική Ζώων Συντροφιάς – Hellenic Journal of Companion Animal Medicine – Volume 5 – Issue 1 – 2016 – Canine hip dysplasia. Part I: Aetiopathogenesis & diagnostic approach

  https://hjcam.hcavs.gr/en/v5-i1-canine-hip-dysplasia

  The head of a dysplastic hip due to subluxation is tangent only to a small part of the dorsal acetabular rim, which receives much greater forces than it can withstand. The latter results in microfructures and progressive destruction of the articular cartilage of the dorsal acetabular rim, inflammation of the coxofemoral joint and reactive periarticular fibration, progressive deformation of the articular surfaces, remodelling of the dorsal acetabular rim, and osteophyte production. The consequence of all the above is hip osteoarthritis.

• #25 Pathogenesis, Diagnosis, and Control of Canine Hip Dysplasia | Veterian Key

  https://veteriankey.com/pathogenesis-diagnosis-and-control-of-canine-hip-dysplasia/

  Joint laxity as measured by distraction index has been shown to be the primary risk factor for the development of coxofemoral osteoarthritis in all breeds studied. […] Passive hip laxity, an estimation of functional hip laxity, permits subluxation of the femoral head during the gait cycle, resulting in abnormal force distribution across the joint, leading to premature wear of the articular cartilage and microfractures in the subchondral bone and ultimately progressing to osteophyte formation and osteoarthritis. […] The holy grail for diagnosing hip dysplasia would be the identification of all gene mutations that collectively underlie the expression of canine hip dysplasia and osteoarthritis. […] A positive correlation between pelvic muscle mass and the prevalence of hip dysplasia has been reported.

• #26 Hip dysplasia – Wikipedia

  https://en.wikipedia.org/wiki/Hip_dysplasia

  Hip dysplasia is considered to be a multifactorial condition. That means that several factors are involved in causing the condition to manifest. […] The cause of the condition is unknown; however, some factors of congenital hip dislocation are through heredity and racial background. It is also thought that the higher rates in some ethnic groups (such as some Native American groups) is due to the practice of swaddling of infants, which is known to be a potential risk factor for developing dysplasia. […] Some studies suggest a hormonal link. Specifically, the hormone relaxin has been indicated. […] A genetic factor is indicated since the trait runs in families and there is an increased occurrence in some ethnic populations (e.g., Native Americans, Sami people). A locus has been described on chromosome 13.

• #27 Hip dysplasia – Wikipedia

  https://en.wikipedia.org/wiki/Hip_dysplasia

  Hip dysplasia is considered to be a multifactorial condition. That means that several factors are involved in causing the condition to manifest. […] The cause of the condition is unknown; however, some factors of congenital hip dislocation are through heredity and racial background. It is also thought that the higher rates in some ethnic groups (such as some Native American groups) is due to the practice of swaddling of infants, which is known to be a potential risk factor for developing dysplasia. […] Some studies suggest a hormonal link. Specifically, the hormone relaxin has been indicated. […] A genetic factor is indicated since the trait runs in families and there is an increased occurrence in some ethnic populations (e.g., Native Americans, Sami people). A locus has been described on chromosome 13.

• #28 Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5 | Communications Biology

  https://www.nature.com/articles/s42003-018-0052-4

  Developmental dysplasia of the hip (DDH) is the most common skeletal developmental disease. However, its genetic architecture is poorly understood. We find the heritable component of DDH attributable to common genetic variants to be 55% and distributed equally across the autosomal and X-chromosomes. We identify replicating evidence for association between GDF5 promoter variation and DDH (rs143384, effect allele A, odds ratio 1.44, 95% confidence interval 1.34-1.56, P=3.55×10^-22). Gene-based analysis implicates GDF5 (P=9.24×10^-12), UQCC1 (P=1.86×10^-10), MMP24 (P=3.18×10^-9), RETSAT (P=3.70×10^-8) and PDRG1 (P=1.06×10^-7) in DDH susceptibility. We find shared genetic architecture between DDH and hip osteoarthritis, but no predictive power of osteoarthritis polygenic risk score on DDH status, underscoring the complex nature of the two traits.

• #29 Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5 | Communications Biology

  https://www.nature.com/articles/s42003-018-0052-4

  While DDH is heritable, its genetic architecture remains poorly characterised. Several linkage scans and candidate gene studies have implicated possible associated genetic variants, including in GDF5, but to date no replicated loci of genome-wide significance have been identified. […] We report a scalable, time-efficient recruitment strategy and establish for the first time to our knowledge a robust DDH genetic association locus at GDF5. […] The gene GDF5 encodes growth differentiation factor 5 (GDF5), belonging to the transforming growth factor beta superfamily. GDF5 is required for normal bone and joint development by promoting cartilage condensation and increasing the size of the skeletal elements through proliferation within epiphyseal cartilage. […] Our data implicate rs143384 as the lead variant, with the rs143383 association with DDH being two orders of magnitude weaker. Conditional analyses substantiate this observation. […] We identify an extended region of 16 DDH-associated variants at genome-wide significance and in high LD extending across GDF5 and UQCC, with rs143384 as the lead signal.

• #30 Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5 | Communications Biology

  https://www.nature.com/articles/s42003-018-0052-4

  Developmental dysplasia of the hip (DDH) is the most common skeletal developmental disease. However, its genetic architecture is poorly understood. We find the heritable component of DDH attributable to common genetic variants to be 55% and distributed equally across the autosomal and X-chromosomes. We identify replicating evidence for association between GDF5 promoter variation and DDH (rs143384, effect allele A, odds ratio 1.44, 95% confidence interval 1.34-1.56, P=3.55×10^-22). Gene-based analysis implicates GDF5 (P=9.24×10^-12), UQCC1 (P=1.86×10^-10), MMP24 (P=3.18×10^-9), RETSAT (P=3.70×10^-8) and PDRG1 (P=1.06×10^-7) in DDH susceptibility. We find shared genetic architecture between DDH and hip osteoarthritis, but no predictive power of osteoarthritis polygenic risk score on DDH status, underscoring the complex nature of the two traits.

• #31 Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5 | Communications Biology

  https://www.nature.com/articles/s42003-018-0052-4

  Developmental dysplasia of the hip (DDH) is the most common skeletal developmental disease. However, its genetic architecture is poorly understood. We find the heritable component of DDH attributable to common genetic variants to be 55% and distributed equally across the autosomal and X-chromosomes. We identify replicating evidence for association between GDF5 promoter variation and DDH (rs143384, effect allele A, odds ratio 1.44, 95% confidence interval 1.34-1.56, P=3.55×10^-22). Gene-based analysis implicates GDF5 (P=9.24×10^-12), UQCC1 (P=1.86×10^-10), MMP24 (P=3.18×10^-9), RETSAT (P=3.70×10^-8) and PDRG1 (P=1.06×10^-7) in DDH susceptibility. We find shared genetic architecture between DDH and hip osteoarthritis, but no predictive power of osteoarthritis polygenic risk score on DDH status, underscoring the complex nature of the two traits.

• #32 Developmental Dysplasia of the Hip | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/1015/p1310.html

  Factors contributing to DDH include breech presentation, female sex, positive family history, firstborn status, and oligohydramnios. […] The postnatal extrauterine environment also plays a role in DDH. The incidence of DDH is high in Native American cultures that use swaddling, which forces the hips into adduction and extension. […] The goal of treatment in DDH is to achieve and maintain reduction of the femoral head in the true acetabulum by closed or open means. The earlier treatment is initiated, the greater the success and the lower the incidence of residual dysplasia and long-term complications. […] The goal of operative treatment of DDH is to normalize the hip joint to delay or prevent the premature onset of osteoarthritis. Intervention in early childhood, when remodeling potential is greater, provides the best opportunity for the development of a normal joint. […] Children with untreated hip dysplasia have been shown to develop premature degenerative changes by the time they reach skeletal maturity, and develop painful arthritis in their thirties.

• #33 Hip dysplasia – Wikipedia

  https://en.wikipedia.org/wiki/Hip_dysplasia

  In the breech position the femoral head tends to get pushed out of the socket and the breech position is probably the most important single risk factor, whether an infant is delivered vaginally or by cesarean section. […] As an acquired condition it has been linked to traditions of swaddling infants, use of overly restrictive baby seats, carriers and other methods of transporting babies, or use of a cradle board which locks the hip joint in an „adducted” position (pulling the knees together tends to pull the heads of the femur bone out of the sockets or acetabulae) for extended periods.

• #34 Hip dysplasia – Wikipedia

  https://en.wikipedia.org/wiki/Hip_dysplasia

  In the breech position the femoral head tends to get pushed out of the socket and the breech position is probably the most important single risk factor, whether an infant is delivered vaginally or by cesarean section. […] As an acquired condition it has been linked to traditions of swaddling infants, use of overly restrictive baby seats, carriers and other methods of transporting babies, or use of a cradle board which locks the hip joint in an „adducted” position (pulling the knees together tends to pull the heads of the femur bone out of the sockets or acetabulae) for extended periods.

• #35 Hip dysplasia – Wikipedia

  https://en.wikipedia.org/wiki/Hip_dysplasia

  In the breech position the femoral head tends to get pushed out of the socket and the breech position is probably the most important single risk factor, whether an infant is delivered vaginally or by cesarean section. […] As an acquired condition it has been linked to traditions of swaddling infants, use of overly restrictive baby seats, carriers and other methods of transporting babies, or use of a cradle board which locks the hip joint in an „adducted” position (pulling the knees together tends to pull the heads of the femur bone out of the sockets or acetabulae) for extended periods.

• #36 Hip dysplasia – Wikipedia

  https://en.wikipedia.org/wiki/Hip_dysplasia

  Hip dysplasia is considered to be a multifactorial condition. That means that several factors are involved in causing the condition to manifest. […] The cause of the condition is unknown; however, some factors of congenital hip dislocation are through heredity and racial background. It is also thought that the higher rates in some ethnic groups (such as some Native American groups) is due to the practice of swaddling of infants, which is known to be a potential risk factor for developing dysplasia. […] Some studies suggest a hormonal link. Specifically, the hormone relaxin has been indicated. […] A genetic factor is indicated since the trait runs in families and there is an increased occurrence in some ethnic populations (e.g., Native Americans, Sami people). A locus has been described on chromosome 13.

• #37 Detecting Developmental Dysplasia of the Hip – Page 3

  https://www.medscape.com/viewarticle/452673_3

  Eighteen weeks gestation is the second critical period in hip development because this is the time that the surrounding muscles develop. Normal fetal movements stretch the developing ligaments and ensure proper position of the femur in the acetabulum. […] The last 4 weeks of pregnancy is the third critical period for DDH. During this stage, mechanical forces related to the infant’s position (ie, breech) or uterine forces (ie, oligohydramnios) limit movement and can disrupt normal development. […] The fourth critical period occurs postnatally when the infant moves from the fetal position of hip flexion to the postnatal position of extension. It is during this time that many cases of DDH develop. […] If dislocation is persistent, the femoral head will flatten and the acetabulum will become shallow and exhibit disrupted ossification. The femur is then further displaced superiorly, and eventually an hourglass deformity of the joint results from constriction of the joint capsule. The fascia and adductor muscles around the hip further shorten in response to this aberrant developmental sequence, making closed reduction difficult or impossible.

• #38 Detecting Developmental Dysplasia of the Hip – Page 3

  https://www.medscape.com/viewarticle/452673_3

  Eighteen weeks gestation is the second critical period in hip development because this is the time that the surrounding muscles develop. Normal fetal movements stretch the developing ligaments and ensure proper position of the femur in the acetabulum. […] The last 4 weeks of pregnancy is the third critical period for DDH. During this stage, mechanical forces related to the infant’s position (ie, breech) or uterine forces (ie, oligohydramnios) limit movement and can disrupt normal development. […] The fourth critical period occurs postnatally when the infant moves from the fetal position of hip flexion to the postnatal position of extension. It is during this time that many cases of DDH develop. […] If dislocation is persistent, the femoral head will flatten and the acetabulum will become shallow and exhibit disrupted ossification. The femur is then further displaced superiorly, and eventually an hourglass deformity of the joint results from constriction of the joint capsule. The fascia and adductor muscles around the hip further shorten in response to this aberrant developmental sequence, making closed reduction difficult or impossible.

• #39 Hip: dysplasia in Dogs (Canis) | Vetlexicon

  https://www.vetlexicon.com/canis/musculoskeletal/articles/hip-dysplasia/

  Femoral head and neck become deformed by stress-induced remodelling: flattened femoral head, new bone production around femoral neck. […] Once skeletal maturity is reached, joint has become stable and no longer luxates, but range of movement restricted. […] Changes after maturity progress slowly dependent upon weight of dog, type and duration of activity. […] May be gradual joint deterioration: erosion of articular cartilage, narrowing of joint space, progressive increase in new bone formation. […] Dogs with advanced secondary remodelling at 1 year of age may not go on to develop clinical signs of lameness during adult life.

• #40 Hip: dysplasia in Dogs (Canis) | Vetlexicon

  https://www.vetlexicon.com/canis/musculoskeletal/articles/hip-dysplasia/

  Femoral head and neck become deformed by stress-induced remodelling: flattened femoral head, new bone production around femoral neck. […] Once skeletal maturity is reached, joint has become stable and no longer luxates, but range of movement restricted. […] Changes after maturity progress slowly dependent upon weight of dog, type and duration of activity. […] May be gradual joint deterioration: erosion of articular cartilage, narrowing of joint space, progressive increase in new bone formation. […] Dogs with advanced secondary remodelling at 1 year of age may not go on to develop clinical signs of lameness during adult life.

• #41 Early-Onset Osteoarthritis originates at the chondrocyte level in Hip Dysplasia | Scientific Reports

  https://www.nature.com/articles/s41598-020-57431-x

  Subjects with developmental dysplasia of the hip (DDH) often show early-onset osteoarthritis (OA); however, the molecular mechanisms underlying this pathology are not known. […] We propose that significant cellular changes precede histological manifestations of OA in DDH cartilage pointing toward alterations at the chondrocyte microenvironment level as an early mechanism underlying the aetiopathogenesis of OA in hip dysplasia. […] Our results revealed that in cartilage from histologically undamaged regions in hips taken from patients with DDH, the chondrocyte phenotype had marked similarities to the pathological characteristics found in damaged OA hip cartilage from patients without DDH (OA-only), which reflect the usual population of patients. […] These findings suggest that early events in DDH cartilage originate at the chondrocyte level and that DDH cartilage may provide a novel opportunity to study these early changes for the development of therapeutic targets for OA.

• #42 Early-Onset Osteoarthritis originates at the chondrocyte level in Hip Dysplasia | Scientific Reports

  https://www.nature.com/articles/s41598-020-57431-x

  Subjects with developmental dysplasia of the hip (DDH) often show early-onset osteoarthritis (OA); however, the molecular mechanisms underlying this pathology are not known. […] We propose that significant cellular changes precede histological manifestations of OA in DDH cartilage pointing toward alterations at the chondrocyte microenvironment level as an early mechanism underlying the aetiopathogenesis of OA in hip dysplasia. […] Our results revealed that in cartilage from histologically undamaged regions in hips taken from patients with DDH, the chondrocyte phenotype had marked similarities to the pathological characteristics found in damaged OA hip cartilage from patients without DDH (OA-only), which reflect the usual population of patients. […] These findings suggest that early events in DDH cartilage originate at the chondrocyte level and that DDH cartilage may provide a novel opportunity to study these early changes for the development of therapeutic targets for OA.

• #43 Early-Onset Osteoarthritis originates at the chondrocyte level in Hip Dysplasia | Scientific Reports

  https://www.nature.com/articles/s41598-020-57431-x

  Subjects with developmental dysplasia of the hip (DDH) often show early-onset osteoarthritis (OA); however, the molecular mechanisms underlying this pathology are not known. […] We propose that significant cellular changes precede histological manifestations of OA in DDH cartilage pointing toward alterations at the chondrocyte microenvironment level as an early mechanism underlying the aetiopathogenesis of OA in hip dysplasia. […] Our results revealed that in cartilage from histologically undamaged regions in hips taken from patients with DDH, the chondrocyte phenotype had marked similarities to the pathological characteristics found in damaged OA hip cartilage from patients without DDH (OA-only), which reflect the usual population of patients. […] These findings suggest that early events in DDH cartilage originate at the chondrocyte level and that DDH cartilage may provide a novel opportunity to study these early changes for the development of therapeutic targets for OA.

• #44 Hip Dysplasia | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/hip-dysplasia

  The hip is a ball-and-socket joint. Normally, the ball at the top of the thigh bone fits into the hip socket. Hip dysplasia occurs when the hip joint has not developed properly and the socket (acetabulum) is too shallow. This allows the ball (femoral head) to slip partially or completely out of the joint. Hip dysplasia ranges from a mild abnormality to a complete dislocation of the hip. […] Hip dysplasia is a treatable condition. However, if left untreated, it can cause irreversible damage that will cause pain and loss of function later in life. It is the leading cause of early arthritis of the hip before the age of 60. The severity of the condition and catching it late increase the risk of arthritis. Therefore, monitoring and early intervention are both important to reduce a child’s risk of pain and disability in adulthood.

• #45 Hip Dysplasia | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/hip-dysplasia

  The hip is a ball-and-socket joint. Normally, the ball at the top of the thigh bone fits into the hip socket. Hip dysplasia occurs when the hip joint has not developed properly and the socket (acetabulum) is too shallow. This allows the ball (femoral head) to slip partially or completely out of the joint. Hip dysplasia ranges from a mild abnormality to a complete dislocation of the hip. […] Hip dysplasia is a treatable condition. However, if left untreated, it can cause irreversible damage that will cause pain and loss of function later in life. It is the leading cause of early arthritis of the hip before the age of 60. The severity of the condition and catching it late increase the risk of arthritis. Therefore, monitoring and early intervention are both important to reduce a child’s risk of pain and disability in adulthood.

• #46 Developmental Dysplasia of the Hip | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/1015/p1310.html

  Factors contributing to DDH include breech presentation, female sex, positive family history, firstborn status, and oligohydramnios. […] The postnatal extrauterine environment also plays a role in DDH. The incidence of DDH is high in Native American cultures that use swaddling, which forces the hips into adduction and extension. […] The goal of treatment in DDH is to achieve and maintain reduction of the femoral head in the true acetabulum by closed or open means. The earlier treatment is initiated, the greater the success and the lower the incidence of residual dysplasia and long-term complications. […] The goal of operative treatment of DDH is to normalize the hip joint to delay or prevent the premature onset of osteoarthritis. Intervention in early childhood, when remodeling potential is greater, provides the best opportunity for the development of a normal joint. […] Children with untreated hip dysplasia have been shown to develop premature degenerative changes by the time they reach skeletal maturity, and develop painful arthritis in their thirties.

• #47 Developmental Dysplasia of the Hip | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/1015/p1310.html

  Factors contributing to DDH include breech presentation, female sex, positive family history, firstborn status, and oligohydramnios. […] The postnatal extrauterine environment also plays a role in DDH. The incidence of DDH is high in Native American cultures that use swaddling, which forces the hips into adduction and extension. […] The goal of treatment in DDH is to achieve and maintain reduction of the femoral head in the true acetabulum by closed or open means. The earlier treatment is initiated, the greater the success and the lower the incidence of residual dysplasia and long-term complications. […] The goal of operative treatment of DDH is to normalize the hip joint to delay or prevent the premature onset of osteoarthritis. Intervention in early childhood, when remodeling potential is greater, provides the best opportunity for the development of a normal joint. […] Children with untreated hip dysplasia have been shown to develop premature degenerative changes by the time they reach skeletal maturity, and develop painful arthritis in their thirties.

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