Exclusion of COL2A1 and VDR as developmental dysplasia of the hip genes.
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ABSTRACT:
SUBMITTER: Rubini M
PROVIDER: S-EPMC2504671 | biostudies-other | 2008 Apr
REPOSITORIES: biostudies-other
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Project description:We reviewed 38 hip replacements in 33 female patients (mean age 55.3 years) with developmental hip dysplasia. One patient had died and the remaining 32 patients (36 hips) had a mean follow-up of 12.2 years (range 8-19 years). All hips were replaced using the Müller cemented implant, and in 32 hips bulk femoral head autograft was used. In 33 hips the socket was reconstructed at the level of the true acetabulum. Complications included one intra-operative femoral fracture and two early dislocations. Correction of leg length discrepancy was possible in 30 patients. The post-operative mean modified Merle d'Aubigne and Postel scores for pain, movement and walking were 5.9, 5, and 5.3 respectively. One cup was revised due to aseptic loosening at ten years. All grafts united, but minor graft resorption was noticed in 24 hips, moderate in 2 hips and major in 1 hip.
| S-EPMC2254666 | biostudies-other
Project description:The National Joint Registry for England and Wales (NJR) has become established as one of the largest repositories of clinical information about patients undergoing hip and knee replacement. The primary aim of this proposal is to examine the feasibility of adding value to that clinical information by partnering it with a DNA dataset to allow its use to be extended to the study of the underlying pathogenesis of diseases of the hip and knee, and the complications of their treatment. We will do this 1) by establishing a mechanism for accessing and linking pseudo-anonymised demographic and phenotype data between the NJR database and the proposed DNA Biobank; 2) by validating the collection of postal DNA samples from consenting NJR patients; and 3) by genotyping genome-wide 900 patients with the condition developmental dysplasia of the hip (DDH) to find variants that play a role in this heritable condition. The successful demonstration that the NJR can be used to establish a DNA Biobank will provide a powerful platform to examine the genetic basis for a wide range of joint diseases, and the complications of their treatment. This proposal is to carry out the genotyping portion of this project on the current CoreExome array
| EGAS00001000916 | EGA
Project description: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.
| S-EPMC6524033 | biostudies-literature
Project description:Developmental dysplasia of the hip (DDH) is one of the most common congenital disorders in childhood. Its diverse pathological changes require different treatments and result in different outcomes. Although many studies have been conducted on DDH, some special pathology is still unrecognized. We here presented a rare case of a one-year and eleven-month old girl with DDH; a half-free intra-articular osteocartilaginous tissue was found in her right hip joint. X-ray, computer assisted tomography (CT) and magnetic resonance imaging (MRI) were performed to evaluate the pathological changes. MRI revealed some positive findings. The patient experienced open reduction and histopathological examination of the small tissue. Through gross anatomy it is a half-free intra-articular osteocartilaginous tissue, which can fully match a fossa observed at the femoral head. Histopathological examination found that the tissue was composed of collagenous fiber and cartilage-like tissue. Interestingly, we found the expression of type I collagen according to immunohistochemical analysis, which indicated that the cartilage-like tissue was formed due to laceration of the articular cartilage. This kind of disorder should be included as one of the pathologies of DDH. The most possible origin of this tissue is the femoral head which we speculate may have been fractured before.
| S-EPMC6085197 | biostudies-literature
Project description:Achondroplasia (ACH) is the most common form of hereditary dwarfism and presents with multiple musculoskeletal anomalies but is not normally associated with premature hip arthritis. Developmental dysplasia of the hip (DDH) is a spectrum of disease resulting in shallow acetabular depth and a propensity for chronic femoral subluxation or dislocation; it is among the most common causes of premature arthritis. This case report describes the diagnosis of symptomatic DDH in a patient with ACH and highlights difficulties of primary total hip arthroplasty (THA) as a treatment option. Intraoperative radiographic imaging is advised to ensure proper prosthesis placement. Femoral osteotomy may aid visualization, reduction, and avoidance of soft tissue injury. Concomitant ACH and DDH is a challenging problem that can be successfully treated with modified THA.
| S-EPMC4958111 | biostudies-other
Project description:Developmental dysplasia of the hip (DDH) is one of the most prevalent congenital malformations. It has a wide spectrum of anatomical abnormalities of the hip joint and is characterized by mild or incomplete formation of the acetabulum leading to laxity of the joint capsule, secondary deformity of the proximal femur and irreducible hip dislocation. It is the leading cause of early hip osteoarthritis in young individuals.Both genetic and environmental factors have been proposed to play an important role in the pathogenesis of DDH. A high prevalence is present in Asian, Caucasian, Mediterranean and American populations, with females being more frequently affected. We evaluated a variety of genetic studies indexed in the PubMed database.Several susceptive genes, including WISP3, PAPPA2, HOXB9, HOXD9, GDF5, TGF Beta 1, CX3CR1, UQCC, COL1A1, TbX4 and ASPN have been identified as being associated with the development of DDH. Moreover, genetic association has also been reported between hip dysplasia and other comorbidities. Even though genetic components are a crucial part in the aetiology of DDH, several DDH susceptibility genes need further investigation.The purpose of this review is to present current literature evidence regarding genes responsible for DDH development. Cite this article: EFORT Open Rev 2019;4:595-601. DOI: 10.1302/2058-5241.4.190006.
| S-EPMC6836073 | biostudies-literature
Project description:BackgroundDevelopmental dysplasia of the hip (DDH) is a complex hip joint deformity with effects ranging from acetabulum malformation to irreversible hip dislocation. Previous studies suggest a significant association of four variations, teneurin transmembrane protein 3 (TENM3, OMIM * 610083) (chr4:183721398), heparan sulfate proteoglycan 2 (HSPG2, OMIM * 142461) (chr1:22201470), ATPase plasma membrane Ca2+ transporting 4 (ATP2B4, OMIM * 108732) (chr1:203682345), and prostaglandin F receptor (PTGFR, OMIM * 600563) (chr1:79002214), with DDH susceptibility in families with segregating DDH. However, the association was not validated in sporadic cases and remains controversial. To confirm the association of the reported variations in these four genes with DDH, we conducted replicative verification in 250 sporadic samples with DDH from a Chinese Han population.MethodsWe conducted Sanger sequencing after amplifying the variation sites. The results were compared with the reference sequence from the GRCh37 assembly in UCSC ( http://genome.ucsc.edu ).ResultsReplication analysis of 250 sporadic samples by Sanger sequencing indicated that the four variations, TENM3 (OMIM * 610083, chr4:183721398), HSPG2 (OMIM * 142461, chr1:22201470), ATP2B4 (OMIM * 108732, chr1:203682345), and PTGFR (OMIM * 600563, chr1:79002214), were not associated with the susceptibility to DDH in the Chinese Han population.ConclusionsFurther studies should be performed to identify other variations of these four genes that are potentially associated with DDH by whole-exome sequencing and the results should be verified in different populations.
| S-EPMC8234666 | biostudies-literature
Project description:UNLABELLED: Developmental dysplasia of the hip (DDH) is a neonatal condition with various causes. Neuromuscular dysplasia of the hip (NDH) is a sequel of neuromuscular disease, and generally presents later in childhood than DDH. Some evidence, however, supports a concept of a neuromuscular etiology of DDH: (1) a high prevalence of spinal dysraphism in DDH; and (2) abnormal sensory evoked potentials in 31% of DDH patients. To explore this suggestion we ascertained the presence of neuromuscular disease within a cohort of DDH patients, and asked whether the neuromuscular condition is the initial etiology of the dysplasia or a coincidental finding. We retrospectively reviewed patients presenting with DDH. Only those with an initial diagnosis of DDH and a subsequent diagnosis of a neuromuscular condition were assessed. Fifteen of 560 patients fulfilled the criteria, however the presence of true DDH within this group was minimal, as several cases emerged as early presenting NDH. We therefore believe it unlikely DDH has a substantial neurological etiology. LEVEL OF EVIDENCE: Level III, prognostic study. See the Guidelines for Authors for a complete description of levels of evidence.
| S-EPMC2504646 | biostudies-other
Project description:UNLABELLED: We questioned whether our modified soft tissue surgical procedure can provide acceptable results with lower complication rates in developmental dysplasia of the hip (DDH). We retrospectively reviewed 143 patients (185 hips) with a mean age of 11.6 months at operation and a minimum followup of 5 years (mean, 7.5 years; range, 5-13 years). We used a posteromedial approach and sectioned the adductor longus and iliopsoas tendons. If we achieved an arthrographically documented anatomic reduction we closed the incisions; if not, we made an arthrotomy to obtain an anatomic reduction through the same incision at the same session. A hip score indicating an acceptable outcome was obtained in 168 hips (90.8%). We identified osteonecrosis of the femoral head (ON) in 36 (19.5%) hips and redislocation in four (2.2%). Both the ossific nucleus and physis were affected in 10 of the 36 hips with ON. We performed secondary operations in 12 hips (6.5%). Hips of the infants after walking age and hips with higher preoperative dislocation grades, acetabular indices, and ON were more prone to having lower hip scores. Based on the data, we believe routine arthrotomy is not needed during posteromedial surgery in DDH and this modified procedure was safe and effective. LEVEL OF EVIDENCE: Level II, prognostic study. See the Guidelines for Authors for a complete description of levels of evidence.
| S-EPMC2504676 | biostudies-other
Project description:In adults, developmental dysplasia of the hip (DDH) represents a spectrum of disorders. It is commonly found in women in routine orthopedic practice. Hip dysplasia is a leading precursor of joint laxity; when untreated, it can contribute to chronic modifications, such as thickening of the pulvinar and ligamentum teres (which can also elongate), hypertrophy of the transverse acetabular ligament, and osteoarthritis. DDH is presumed to be associated with alterations in pelvic morphology that may affect vaginal birth by the reduction in the transverse diameter of the pelvic inlet or outlet. Here, we provide an overview of the current knowledge of pregnancy-associated DDH. We primarily focused on how a surgical DDH treatment might influence the pelvic shape and size and the effects on the mechanism of birth. We presented the female pelvis from the standpoint of bone and ligament morphology relative to a pelvic osteotomy. Then, we described whether the pregnancy was impacted by previous surgical DDH treatments, performed from infancy to adulthood. In conclusion, hip dysplasia is not associated with high-risk complications during pregnancy or with increased difficulty in vaginal delivery.
| S-EPMC8305660 | biostudies-literature