Abstract
Background
Skeletal dysplasias are a heterogeneous group of genetic disorders characterized by atypical cartilage and bone development. Affected individuals often experience joint pain and asymmetric alignment, leading to early-onset degenerative joint disease requiring early surgical intervention. This study provides an updated analysis of patients with skeletal dysplasias undergoing arthroplasty at a single institution following implementation of a multidisciplinary preoperative screening protocol, including implant survival and complications by type of procedure.
Methods
This institutional review board–approved, retrospective study included 55 skeletal dysplasia patients who underwent total hip and/or knee arthroplasty at Hospital for Special Surgery in New York, NY, between April 1985 and June 2024. Chart review included demographics, history, imaging studies, surgical indications, and complications.
Results
Fifty-five individuals had 103 arthroplasties, including 75 hips and 28 knees. Almost half of hips (49%) and knees (54%) required custom components. Fifteen of 75 hip surgeries and 6/28 knee surgeries were revisions. Five-year implant survival was 86.6% for hips and 88.7% for knees. Implant survival at 10 years was 86.6% for hips and 59.1% for knees; hip survival at 20 years was 57.7%. Postoperative complications occurred in 29/75 hip arthroplasties (38.7%) and 15/28 knee arthroplasties (53.6%), although orthopaedic/surgical complications were less frequent, affecting 8/75 hip arthroplasties (10.7%) and 3/28 knee arthroplasties (10.7%).
Conclusions
Presurgical advance planning remains essential in this patient population, including custom component design. Surgeries performed after 2018, when preoperative consultation with a dedicated multidisciplinary skeletal dysplasia team was initiated, showed a reduction in complication severity, highlighting improvements in care associated with specialized perioperative management.
Keywords: Skeletal dysplasia, Arthroplasty, Custom implants, Implant survival, Complications
Introduction
Skeletal dysplasias are a heterogeneous group of over 700 genetic disorders characterized by abnormal growth and remodeling of cartilage and bone leading to differences in the size and shape of the skull, trunk, and extremities, frequently resulting in disproportionate short stature [1,2]. Collectively, they occur in approximately 1 out of every 4000-5000 births [3]. Joints can be maligned and bone quality diminished [[4], [5], [6]]. Dysfunctional endochondral ossification and abnormal epiphyseal development may lead to cartilaginous surfaces that cannot support physiological loads, leading to joint degeneration in early adulthood [7,8]. Individuals may present with valgus/varus deformities, bowing of the long bones, bone fragility, ligamentous laxity, and flexion contractures. Asymmetric joints can lead to high-stress areas with early cartilage deterioration. Consequently, individuals with skeletal dysplasias are more likely to develop premature degenerative joint disease, often requiring surgical intervention at a younger age than those in the general population [[9], [10], [11]].
Total joint arthroplasties are typically indicated in skeletal dysplasia patients with premature osteoarthritis whose symptoms persist despite early joint-preserving procedures [11]. In the general population, about three-fourths of hip implants last longer than 25 years [12], with an average hip implant survival rate in the United States of 97% at 5 years and 95% at 10 years [13]. The reported hip implant survival probability at 20 years is 77.7% for patients ≤55 years [14]. Total knee implant survival in the United States is similarly high, reported as 97.1% at 5.5 years and 96.8% at 10 years [15,16]. However, implant survivorship in skeletal dysplasia patients varies between reports based on sample size, type of implant, and the genetic diagnoses included. A review of lower-extremity arthroplasty outcomes in this patient population noted that they may face higher rates of complications such as intraoperative fractures, aseptic loosening, or polyethylene wear and osteolysis, often requiring earlier revision surgery [17]. Current literature on arthroplasties in skeletal dysplasias is often limited to small cohorts or single-procedure studies. Previously, we examined the outcomes of 29 individuals with skeletal dysplasias who underwent multiple different arthroplasties between 1985 and 2019, reporting lower combined implant survival (90.9% at 5 and 10 years; 45.4% at 20 years) [18]. However, one limitation of this study was that all types of arthroplasty procedures (hip, knee, and shoulder) were combined and analyzed together.
Since 2018, our institution has established a multidisciplinary presurgical screening protocol to standardize preoperative screening measures and reduce complications in this patient population. The overarching goal is to provide a personalized approach to preoperative optimization, with attention to both diagnosis-specific risk factors and evaluation of patient-specific medical and/or orthopaedic comorbidities. As part of this protocol, all skeletal dysplasia patients are required to be evaluated by a multidisciplinary team at a dedicated clinic prior to undergoing surgery, comprised of an orthopaedic surgeon, physical therapist, genetic counselor, clinical nutritionist, and social worker [19]. Patients are also seen for a high-risk preoperative anesthesia consultation and in-house presurgical clearance with an internist, allowing for identification of any referrals to specialists that are needed. This policy was developed at our institution with input from multiple surgical and medical providers experienced in management of skeletal dysplasia patients.
The purpose of this retrospective study is to present updated outcomes in a larger cohort undergoing total hip or total knee arthroplasty, as well as to better understand the potential impact of the multidisciplinary preoperative screening protocol on patient outcomes by comparing the surgical complications before and after 2018, when this policy began.
Material and methods
This is an institutional review board–approved retrospective review of 55 individuals with a skeletal dysplasia who underwent total arthroplasty or revision surgery at Hospital for Special Surgery in New York, NY, between 1985 and 2024. The methods presented here closely follow those reported in Raggio et al. [18]. A total of 43 individuals underwent total hip arthroplasty (THA) and 19 individuals underwent total knee arthroplasty (TKA). This included 36 patients who underwent THA only, 12 patients who underwent TKA only, and 7 patients who had both THA and TKA (Table 1). Skeletal dysplasia diagnoses were made on clinical and radiographic grounds with genetic confirmation when possible (Table 2).
Table 1.
Total numbers of patients presenting for total hip and/or knee arthroplasty.
| Patient category | Number of individuals |
|---|---|
| Total number of individuals with THA | 43 |
| Total number of individuals with TKA | 19 |
| Patients with THA only | 36 |
| Patients with TKA only | 12 |
| Patients who had both THA and TKA | 7 |
| Total number of patients reviewed | 55 |
Table 2.
Skeletal dysplasia diagnosis of patients presenting for total hip and/or knee arthroplasty, based on total numbers.
| Skeletal dysplasia diagnosis | Number of patients undergoing THA | Number of patients undergoing TKA |
|---|---|---|
| Spondyloepiphysealdysplasia (SED) | 11 | 1 |
| Pseudoachondroplasia | 6 | 1 |
| Diastrophic dysplasia | 4 | 4 |
| Osteogenesis imperfecta | 4 | 2 |
| Spondyloepimetaphyseal dysplasia (SEMD) | 3 | 1 |
| Kniest dysplasia | 3 | 2 |
| Achondroplasia | 3 | 2 |
| Multiple epiphyseal dysplasia (MED) | 3 | 1 |
| Metaphyseal dysplasia | 2 | - |
| Morquio syndrome | 2 | 2 |
| Steel syndrome | 1 | 2 |
| ACAN-related disorder | 1 | - |
| Unknown | - | 1 |
Medical history, surgical history, indications for surgery, preoperative planning, physical examination, and intraoperative and postoperative complications were collected. Body mass index (BMI) was classified using the World Health Organization’s obesity definitions [20]. Custom components were used when proper fit could not be obtained using standard implants, including significant deformity, improper sizing, or metaphyseal-diaphyseal mismatch of the hip. This was determined using computed tomography (CT) data and 3-dimensional (3D) reconstructions. We recorded whether patients had a preoperative biomechanics team review and planning details including CT reconstruction, templating, and patient-specific devices. Follow-up time for implant survival was determined using the last patient visit, first revision surgery, or death date [18].
Postoperative complications were classified using the Clavien-Dindo method [21]. Overall postoperative complication rates were calculated as the proportion of surgical encounters with at least one complication. Procedures with multiple complications were counted once when calculating the overall complication rate; however, each complication event was assessed separately when reporting complication type (orthopaedic/surgical, neurological, and medical) and severity. Utilization of custom implants in THA among the 4 most common skeletal dysplasia subtypes was compared via the Fisher-Freeman-Halton exact test, with significance set at P < 0.05. Statistical analysis was conducted using SPSS 31 for Windows (IBM SPSS Statistics, NY).
Results
Hip arthroplasty outcomes
Forty-three individuals (30 women, 13 men) with skeletal dysplasia underwent 75 hip arthroplasties, including 60 primary arthroplasties and 15 revision surgeries (10 primary revisions, 3 secondary revisions, 1 tertiary revision, and 1 reimplantation following aborted THA). The average age at the time of primary THA was 38.4 ± 12.9 years, average height was 128.7 ± 18.9 cm, average weight was 53.4 ± 16.0 kg, and average BMI was 32.48 ± 9.34 kg/m2. Many different skeletal dysplasia diagnoses were included, most commonly spondyloepiphyseal dysplasia (SED) (11 individuals) and pseudoachondroplasia (6 individuals). All were diagnosed with degenerative joint disease or osteoarthritis, and 14/43 (32.6%) with osteopenia (on X-ray). Eighteen individuals (18/43; 41.9%) had at least one pre-existing cardiopulmonary comorbidity, most commonly hypertension (7/43; 16.3%), asthma (6/43; 14.0%), or restrictive lung disease (3/43; 7.0%).
Nearly half of the hips (37/75; 49%) were replaced using custom components, and 45/75 (60%) of the implants had advance planning by the biomechanics team, most commonly involving CT reconstruction, patient-specific device design, and size templating, as well as an osteotomy plan for the surgeon and range of motion analysis. There was no significant difference in the use of custom implants among the 44 most common skeletal dysplasia subtypes presenting for THA (P = .644). Fixation data were available for 74 out of 75 of the implants in this study. Fifty-nine hip implants (59/74; 79.7%) were cementless, while the remaining 15/74 (20.3%) were cemented. A decrease in the use of cement was observed over the years, with cement used in 11 surgeries prior to 2018, and 4 surgeries following 2018.
The average time to first revision was 8.31 ± 9.98 years, ranging from 38 days to 22.1 years. Implant longevity was modeled using a Kaplan-Meier survival curve. Primary hip implant survival was 86.6% at both 5 and 10 years (95% confidence interval (CI): 69.78%-94.36%; no patients had revision surgery at a time point between 5 and 10 years). At 20 years, primary hip implant survival was 57.7% (95% CI: 9.05%-88.17%) (Fig. 1a). The most common reasons for revision included loosening of the femoral component (4 surgeries), osteolysis due to polyethylene wear (4 surgeries), and loosening of the acetabular cup (2 surgeries). Most revisions were done in patients with pseudoachondroplasia (5 surgeries), followed by Kniest dysplasia (3 surgeries) and spondyloepimetaphyseal dysplasia (SEMD) (3 surgeries).
Figure 1.
Hip (a) and knee (b) implant longevity in individuals with skeletal dysplasias (with 95% CI shown in gray).
Overall, 29/75 hip arthroplasties (38.7%) were associated with at least one intraoperative and/or postoperative complication. Complications following THA were assessed before and after the implementation of a presurgical screening protocol in 2018, when all skeletal dysplasia patients had to be seen at a multidisciplinary center prior to surgery (Fig. 2). Forty surgeries were performed before 2018; the remaining 35 were conducted after 2018. Before 2018, there were a total of 5 orthopaedic/surgical complications: an intraoperative subtrochanteric fracture (osteogenesis imperfecta [OI]), recurrent dislocation requiring revision surgery (Morquio syndrome), difficult intubation resulting in delay of the procedure (Kniest dysplasia), postoperative right ankle pain (achondroplasia), and a hematoma requiring incision and drainage (Steel syndrome). There was also one serious neurological complication (acute onset paraplegia; achondroplasia). Finally, 7 medical complications were noted: postoperative pulmonary embolism (2), infection with aspiration, Staphylococcus epidermidis hip infection, non-ST elevated myocardial infarction, and 2 other minor complications.
Figure 2.
Total hip replacement complication events before and after presurgical screening protocol was implemented in 2018 at our institution.
Following 2018, there were 3 orthopaedic complications: a small intraoperative perforation requiring a cable (pseudoachondroplasia), an intraoperative acetabular fracture resulting in discontinuation of the procedure (Kniest dysplasia), and an active hip drainage requiring incision and drainage (SEMD). One patient had a moderate postoperative neurological complication (femoral neuropraxia resulting in numbness). Lastly, 14 medical complications were reported, including right upper lobe pulmonary embolism, deep vein thrombosis, cellulitis requiring antibiotics, pneumonitis, left hip infection managed with antibiotics, ulcer in pannus crease, shingles rash, and other minor complications. Of the 29 hip arthroplasty procedures with at least one complication, 12/29 (41.4%) were done on individuals with known cardiopulmonary comorbidities.
Knee arthroplasty outcomes
Nineteen individuals (13 women, 6 men) underwent a total of 28 knee arthroplasties, including 5 primary revisions and 1 secondary revision surgery. At primary TKA, the average age was 46.3 ± 14.9 years, average height was 131.11 ± 16.96 cm, average weight was 54.0 ± 14.1 kg, and average BMI was 31.52 ± 6.49 kg/m2. The most common diagnosis in this cohort was diastrophic dysplasia (4 individuals). All 19 individuals undergoing TKA were diagnosed with osteoarthritis, 5/19 (26.3%) with osteopenia, and 10/19 (52.6%) with at least one cardiopulmonary comorbidity, most commonly asthma (4/19; 21.1%) or sleep apnea (3/19; 15.8%).
Fifteen of the 28 knees (53.6%) were replaced with custom components, while 75% (21/28) of the implants had advance planning by the biomechanics team. The average time to first revision was 2.81 ± 3.09 years, ranging from 73 days to 6.22 years. The knee implant survival at 5 years was 88.67% (95% CI: 61.4%-97.1%). At 10 years, knee implant survival was 59.1% (95% CI: 8.3%-89.5%) (Fig. 1b). Reasons for revision varied, including loosening and metallosis, severe polyethylene wear, migration and lucency of the bone cement interface, flexion contracture with inability to straighten the leg, and unknown (2). Patients with pseudoachondroplasia (2 surgeries) and Kniest dysplasia (2 surgeries) most commonly required revision TKA.
Altogether, 15/28 knee arthroplasties (53.6%) were associated with at least one intraoperative and/or postoperative complication. Of the 14 surgeries performed prior to 2018, there were 3 orthopaedic complications: pain and decreased motion requiring range of motion manipulation (Kniest dysplasia), active incisional drainage (OI), incisional drainage requiring Prevena vac and knee immobilizer (OI), and 1 neurological complication (right foot drop; SED). Additionally, 8 medical complications occurred, including fever requiring intravenous (IV) antibiotics, pneumonia, thrush, rash from steri-strips, ileus, urinary retention requiring catheterization (2), and productive cough. Fourteen surgeries were done after 2018. No surgical or neurological complications were noted. There were 6 medical complications: pleural effusion, urinary retention requiring catheterization (2), tachycardia (2), and hypotension requiring transfusion. Figure 3 shows postoperative complications by severity. Of the 15 knee arthroplasty procedures with at least one complication, 9/15 (60%) involved individuals with known cardiopulmonary comorbidities.
Figure 3.
Total knee replacement complication events before and after presurgical screening protocol was implemented in 2018 at our institution.
Discussion
Arthroplasties in individuals with skeletal dysplasias often constitute complex cases, as anatomic asymmetries caused by bone malformations and deformities may result in the need for custom components or alterations in surgical technique. Most hip and knee arthroplasties, 60% and 75%, respectively, required advance planning, reflecting the anatomic complexity of the affected joint. Patient-specific implant designs were also frequent (49% of hips and 54% of knees), suggesting standard implant designs may be inadequate for this population. Figure 4 shows representative cases where custom implants were designed for 2 THAs and 1 TKA. Nonetheless, revision surgeries remained relatively common (20% of hip arthroplasties and 21% of knees were revisions). Therefore, even with custom components and careful planning, implant failure remains a significant risk.
Figure 4.
Preoperative (a) and postoperative (b, c) X-rays of staged bilateral custom hip implants designed for a patient with spondyloepiphyseal dysplasia. Preoperative (d) and postoperative (e, f) X-rays of a custom hip prosthesis designed for a patient with osteogenesis imperfecta who had pre-existing intramedullary rods. Preoperative (g) and postoperative (h) X-rays of a custom knee prosthesis designed for a patient with diastrophic dysplasia.
Our updated implant survival analysis further supports these findings. Five-year survival rates for hip (86.6%) and knee (88.7%) implants were comparable, although both remained lower than U.S. averages (97.0% and 97.1%, respectively) [13,15]. At 10 years, hip implant survival remained at 86.6% compared to 95% in the general population, while knee implant survival declined to 59.1%, notably lower than the national average of 96.8% [13,16]. At 20 years, hip implant survival was 57.7%, slightly lower than 60.4%-77.7% reported in U.S. patients under 55 years [14]. These results were consistent with our previous work demonstrating lower combined survival rates of implants in individuals with skeletal dysplasias, even with a larger cohort [18]. Furthermore, failure mechanisms in this cohort were generally consistent with those in the broader population [22]. For hip arthroplasties, the most common causes were loosening of the femoral component, osteolysis, and polyethylene wear. Knee failures occurred due to loosening, severe polyethylene wear, and flexion contracture, with aseptic loosening remaining the leading reason for TKA revision in the general population [23]. Given that the surgeries reviewed in this study span several decades, surgical techniques and implant fixation strategies have also evolved. We noted a decrease in the use of cement for implant fixation over the study period, which may reflect changes in surgical practice at our institution. Highly cross-linked polyethylene was introduced around 2005, and cementless femoral stems designed for metaphyseal fixation have been increasingly utilized at our institution over time. These trends in implant design may have played a role in implant survivorship and should be considered when interpreting our findings.
Revision surgeries were most common for patients with pseudoachondroplasia and dysplasias with epiphyseal involvement (ie, diastrophic dysplasia, multiple epiphyseal dysplasia, SED, SEMD, Kniest dysplasia, Morquio syndrome, and Steel syndrome). Postoperative surgical complications after THA also occurred most often in dysplasias with epiphyseal involvement (6/8; 75%), with the remaining occurring in patients with OI (1/8; 12.5%) and achondroplasia (1/8; 12.5%). Surgical TKA complications occurred most often in OI patients (2 cases) and SED (1 case). Together, these findings support the particular importance of careful preoperative planning and perioperative management for patients with these diagnoses.
Overall postoperative complication rates were notably high (38.7% for hips and 53.6% for knees), yet surgical and/or orthopaedic complications occurred less frequently, affecting 8/75 hip arthroplasties (10.7%) and 3/28 knee arthroplasties (10.7%). The surgeries themselves thus remained relatively safe, and arthroplasty remained feasible in this complex population. However, compared to the general population, where orthopaedic complication rates are lower (eg, 1.4% after hip arthroplasty using enabling technology and a posterior approach [24]), this patient population remains at an elevated risk.
Among arthroplasty procedures with at least one complication, almost half of hip surgeries (41.4%) and two-thirds of knee surgeries (60%) involved patients with pre-existing cardiopulmonary comorbidities, suggesting these factors may increase postoperative complication risk in these patients. Although THA complications increased after 2018, severe Grade III and IV complications declined. Similarly, we observed fewer and less severe TKA complications after 2018, which may reflect improvements in preoperative planning and screening. The high rate of non-orthopaedic complications underscores the need for robust perioperative medical management and early involvement of multidisciplinary teams.
Our institution attracts a number of referrals from patients with skeletal dysplasias, a group of genetic disorders that predispose patients to medical and orthopaedic risk factors located away from the part of the body which is indicated for surgical intervention. Given that this patient population presents as higher risk for surgical management, our institution requires all adult surgical patients with skeletal dysplasias to be evaluated by a multidisciplinary team at a dedicated skeletal dysplasia clinic [19], high-risk preoperative anesthesia consultation, and in-house presurgical clearance with an internist, with referral for additional consultations if indicated. A “Best Practice Advisory” was implemented in the electronic medical record (Epic Systems) that flags all patients ≤4’10” tall who are indicated for surgery to help surgical offices know who should be referred for consultation by the multidisciplinary skeletal dysplasia clinic. This team, consisting of an orthopaedic surgeon who examines the whole patient, genetic counselor, social worker, physical therapist, and nutritionist, works together to provide a comprehensive approach for each patient with diagnosis-specific and personalized management recommendations, including referral to other specialty providers as indicated.
Anesthetic consultation prior to surgery is essential for this population to anticipate possible intubation complications secondary to patients’ predisposition to atlantoaxial instability, shorter necks, and narrower airways. The input of otorhinolaryngology may be indicated for management of complicated airways. Positioning on the anesthesia table also must be addressed, with special attention for those patients with short limbs, limited range of motion, or increased risk of fracture due to diminished bone quality from disuse and/or genetic predisposition. Patients with radiographic signs of spinal pathology commonly require workup with a musculoskeletal neurologist and/or consultation with spine surgeons. All patients with progressive neurologic symptoms and other signs of spinal cord compression need to undergo surgical treatment to relieve the symptoms and stabilize the spine prior to undergoing arthroplasty. Intraoperative spinal cord monitoring is recommended for all surgeries lasting more than 1 hour 15 minutes in length [25]. Additionally, a process was established at the hospital to ensure that short-statured patients are placed in a hi-low hospital bed postoperatively, which can be lowered close to the floor to improve safety for both the patients and the staff caring for them during their inpatient stay. We recognize that some institutions might not have the same resources as ours (eg, a biomechanics team for custom implant design). However, implementation of these other important considerations, such as preoperative anesthesia consultations, may still help improve arthroplasty outcomes for these patients.
This study is not without its limitations. Further studies with increased numbers of participants are needed to investigate factors such as skeletal dysplasia diagnosis, sex, and primary vs revision surgery on arthroplasty outcomes in a multivariate regression model or stratified analysis by decade. Implant survival analysis was limited by the number of patients with both primary and revision surgeries performed at our institution, and future research on survival rates by sex or type of dysplasia is needed to better understand these factors. Individuals with various skeletal dysplasia diagnoses were grouped despite heterogeneity in clinical presentation, and larger future studies should investigate specific subgroups, such as postoperative complications and fracture risk in OI patients undergoing arthroplasty. We also cannot say with certainty whether a multidisciplinary protocol is solely responsible for a reduction in grade III and IV arthroplasty complications. There are other reasons why complications may have declined over the years given general improvements in arthroplasty, including improved implant options, improved anesthetic techniques, and rapid rehabilitation protocols.
Nevertheless, advances in arthroplasty are separate from the medical aspect of screening and optimizing the skeletal dysplasia patient who is often medically complex. One can operate on the X-ray of an individual and do well compared to a surgery on the same X-ray in 2013. However, the patient is more than the X-ray and must be optimized as an individual, which may extend beyond advances in technique and careful prosthesis design. Long-term prospective studies are needed to identify risk factors and develop guidelines to improve arthroplasty outcomes in this high-risk population.
CRediT authorship contribution statement
Chloe E. Derocher: Writing – review & editing, Writing – original draft, Formal analysis, Data curation. Jack E. Mulcrone: Writing – review & editing, Writing – original draft. Grace Fitzgerald: Data curation. Erin M. Carter: Writing – review & editing, Writing – original draft, Methodology, Conceptualization. Mathias P.G. Bostrom: Writing – review & editing, Supervision, Methodology. Mark P. Figgie: Writing – review & editing, Supervision, Methodology. Cathleen L. Raggio: Writing – review & editing, Supervision, Methodology, Conceptualization.
Conflicts of interest
M.P.G. Bostrom has received royalties from Smith & Nephew for a Hip Stem Patent; is a paid consultant for Smith & Nephew; has received funding as the principal investigator from the NIH, Smith & Nephew, and Ines Mandl Research Foundation; is on the editorial board for the HSS Journal; and has board/committee appointments for the Hip Society Board and American Austrian Foundation Board, outside of the submitted work. E.M. Carter has a board/committee appointment for the Little People of America Medical Advisory Board, outside of the submitted work. M.P. Figgie has received royalties from Enovis and has stock in Wishbone, JEASO, Native, Sylke, Theradaptive, Endeavor, Icarus, Pathkeeper, and HS2, outside of the submitted work. C.L. Raggio is on the speakers bureau or received payment for presentations from Alexion Pharmaceuticals, Ascendis, and Biomarin; is a paid consultant for Biomarin; has received funding as the principal investigator from the Jamie Kendall Fund of the Osteogenesis Imperfecta Foundation, NextCure, Biomarin, and the New York Community Trust; and has board/committee appointments for the OI Foundation Medical Advisory Board and Ehlers-Danlos Society Board, outside the submitted work; all other authors declare no potential conflicts of interest.
For full disclosure statements refer to https://doi.org/10.1016/j.artd.2026.102149.
Acknowledgments
The authors would like to acknowledge the surgeons involved in the care of these individuals during and after their arthroplasty and revision surgeries at Hospital for Special Surgery: Michael Alexiades, Jason Blevins, Friedrich Boettner, Robert Buly, Brian Chalmers, Michael Cross, Lawrence Gulotta, David Helfet, Gabriella Ode, Anil Ranawat, Taylor Reif, José Rodriguez, S. Robert Rozbruch, Thomas Sculco, Peter Sculco, David Wellman, Philip Wilson, Jr, and Russell Windsor. The authors would also like to thank Kathryn O. and Alan C. Greenberg for their ongoing support of the Center for Skeletal Dysplasias at Hospital for Special Surgery.
Appendix A. Supplementary data
References
- 1.Unger S., Ferreira C.R., Mortier G.R., Ali H., Bertola D.R., Calder A., et al. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023;191:1164–1209. doi: 10.1002/ajmg.a.63132. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 2.Krakow D. Skeletal dysplasias. Clin Perinatol. 2015;42:301–viii. doi: 10.1016/j.clp.2015.03.003. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 3.Krakow D., Rimoin D.L. The skeletal dysplasias. Genet Med. 2010;12:327–341. doi: 10.1097/GIM.0b013e3181daae9b. [DOI] [PubMed] [Google Scholar]
- 4.Ain M.C., Andres B.M., Somel D.S., Fishkin Z., Frassica F.J. Total hip arthroplasty in skeletal dysplasias: patient selection, preoperative planning, and operative techniques. J Arthroplasty. 2004;19:1–7. doi: 10.1016/s0883-5403(03)00455-8. [DOI] [PubMed] [Google Scholar]
- 5.Vaara P., Peltonen J., Poussa M., Merikanto J., Nurminen M., Kaitila I., et al. Development of the hip in diastrophic dysplasia. J Bone Joint Surg Br. 1998;80:315–320. doi: 10.1302/0301-620x.80b2.8329. [DOI] [PubMed] [Google Scholar]
- 6.Wirtz D.C., Birnbaum K., Siebert C.H., Heller K.D. Bilateral total hip replacement in Pseudoachondroplasia. Acta Orthop Belg. 2000;66:405–408. [PubMed] [Google Scholar]
- 7.Guenther D., Kendoff D., Omar M., Cui L.R., Gehrke T., Haasper C. Total hip arthroplasty in patients with skeletal dysplasia. J Arthroplasty. 2015;30:1574–1576. doi: 10.1016/j.arth.2015.03.024. [DOI] [PubMed] [Google Scholar]
- 8.Guenther D., Kendoff D., Omar M., Cui L.R., Schmidl S., Jakobs O., et al. Total knee arthroplasty in patients with skeletal dysplasia. Arch Orthop Trauma Surg. 2015;135:1163–1167. doi: 10.1007/s00402-015-2234-6. [DOI] [PubMed] [Google Scholar]
- 9.Sekundiak T.D. Total hip arthroplasty in patients with dwarfism. Orthopedics. 2005;28(9 Suppl):s1075–s1078. [PubMed] [Google Scholar]
- 10.Sewell M.D., Hanna S.A., Al-Khateeb H., Miles J., Pollock R.C., Carrington R.W., et al. Custom rotating-hinge primary total knee arthroplasty in patients with skeletal dysplasia. J Bone Joint Surg Br. 2012;94:339–343. doi: 10.1302/0301-620X.94B3.27892. [DOI] [PubMed] [Google Scholar]
- 11.Sewell M.D., Al-Hadithy N., Higgs D., Bayley I., Falworth M., Lambert S. Complex shoulder arthroplasty in patients with skeletal dysplasia can decrease pain and improve function. J Shoulder Elbow Surg. 2014;23:1499–1507. doi: 10.1016/j.jse.2014.01.003. [DOI] [PubMed] [Google Scholar]
- 12.Evans J.T., Evans J.P., Walker R.W., Blom A.W., Whitehouse M.R., Sayers A. How long does a hip replacement last? A systematic review and meta-analysis of case series and national registry reports with more than 15 years of follow-up. Lancet (London, England) 2019;393:647–654. doi: 10.1016/S0140-6736(18)31665-9. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 13.Paxton E.W., Cafri G., Nemes S., Lorimer M., Karrholm J., Malchau H., et al. An international comparison of THA patients, implants, techniques, and survivorship in Sweden, Australia, and the United States. Acta Orthop. 2019;90:148–152. doi: 10.1080/17453674.2019.1574395. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 14.Negm A.M., Beaupre L.A., Goplen C.M., Weeks C., Jones C.A. A scoping review of total hip arthroplasty survival and reoperation rates in patients of 55 years or younger: health services implications for revision surgeries. Arthroplast Today. 2022;16:247–258.e6. doi: 10.1016/j.artd.2022.05.012. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 15.Paxton E.W., Namba R.S., Maletis G.B., Khatod M., Yue E.J., Davies M., et al. A prospective study of 80,000 total joint and 5000 anterior cruciate ligament reconstruction procedures in a community-based registry in the United States. J Bone Joint Surg Am. 2010;92(Suppl 2):117–132. doi: 10.2106/JBJS.J.00807. [DOI] [PubMed] [Google Scholar]
- 16.Worland R.L., Johnson G.V., Alemparte J., Jessup D.E., Keenan J., Norambuena N. Ten to fourteen year survival and functional analysis of the AGC total knee replacement system. Knee. 2002;9:133–137. doi: 10.1016/s0968-0160(01)00146-6. [DOI] [PubMed] [Google Scholar]
- 17.Guirguis P., Fowler L., Ricciardi B.F. Outcomes of lower extremity total joint arthroplasty in patients with skeletal dysplasia: a systematic review. Arthroplast Today. 2024;29 doi: 10.1016/j.artd.2024.101405. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 18.Raggio C.L., Yonko E.A., Khan S.I., Carter E.M., Citron K.P., Bostrom M.P.G., et al. Joint replacements in individuals with skeletal dysplasias: one institution's experience and response to operative complications. J Arthroplasty. 2020;35:1993–2001. doi: 10.1016/j.arth.2020.04.007. [DOI] [PubMed] [Google Scholar]
- 19.Carter E.M., Montuori L., Davis J.G., Raggio C.L. The Kathryn O. and Alan C. Greenberg center for skeletal dysplasias: an interdisciplinary approach. HSS J. 2008;4:112–116. doi: 10.1007/s11420-008-9076-5. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 20.World Health Organization . WHO Technical Report Series; Geneva: 2000. Obesity: preventing and managing the global epidemic. report of a WHO consultation; p. 894. [PubMed] [Google Scholar]
- 21.Clavien P.A., Barkun J., de Oliveira M.L., Vauthey J.N., Dindo D., Schulick R.D., et al. The Clavien-Dindo classification of surgical complications: five-year experience. Ann Surg. 2009;250:187–196. doi: 10.1097/SLA.0b013e3181b13ca2. [DOI] [PubMed] [Google Scholar]
- 22.Inacio M.C., Ake C.F., Paxton E.W., Khatod M., Wang C., Gross T.P., et al. Sex and risk of hip implant failure: assessing total hip arthroplasty outcomes in the United States. JAMA Intern Med. 2013;173:435–441. doi: 10.1001/jamainternmed.2013.3271. [DOI] [PubMed] [Google Scholar]
- 23.Moreland J.R. Mechanisms of failure in total knee arthroplasty. Clin Orthop Relat Res. 1988:49–64. [PubMed] [Google Scholar]
- 24.Anderson C.G., Jang S.J., Brilliant Z.R., Mayman D.J., Vigdorchik J.M., Jerabek S.A., et al. Complication rate after primary total hip arthroplasty using the posterior approach and enabling technology: a consecutive series of 2,888 hips. J Arthroplasty. 2023;38:S119–S123.e3. doi: 10.1016/j.arth.2023.04.029. [DOI] [PubMed] [Google Scholar]
- 25.White K.K., Bompadre V., Goldberg M.J., Bober M.B., Cho T.J., Hoover-Fong J.E., et al. Best practices in peri-operative management of patients with skeletal dysplasias. Am J Med Genet A. 2017;173:2584–2595. doi: 10.1002/ajmg.a.38357. [DOI] [PubMed] [Google Scholar]
Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.