Total Knee Arthroplasty in Patients Who Have Skeletal Dysplasia: A Center's Experience With a Mean 9-Year Follow-Up.

BACKGROUND: Total knee arthroplasty (TKA) in patients who have skeletal dysplasia (SD) is a technically challenging surgery due to deformity, joint contracture, and associated comorbidities. Patients presenting with this condition have traditionally been treated with conservative measures, leading to poor outcomes. The aim of this study was to follow-up on patients who had SD following TKA, specifically with regards to clinical outcomes. METHODS: A total of 31 knees (22 patients) with SD that had undergone TKA in our institution were included in our study. The mean follow-up from index surgery was 110.3 months (range: 20 to 291). The type of dysplasia, implant used, and clinical outcomes with patient-reported outcome measures are presented. RESULTS: There were 8 patients (36.3%) who had a diagnosis of achondroplasia, followed by multiple epiphyseal dysplasia (31.8%) and spondyloepiphyseal dysplasia (22.7%). There were 14 men and 8 women who had a mean age of 51 years (range: 28 to 73). Custom implants were required in 12 cases (38.7%), custom jigs were used in 6 cases (19.4%), and robotic-assisted surgery was used in 2 (6.5%) TKAs. Hinged prostheses were used in 17 cases (54.8%), posterior-stabilized in 9 (29.0%), and cruciate-retaining implants in 5 (16.1%). There was 1 patient who sustained an intraoperative medial tibial plateau fracture treated with concomitant open reduction and internal fixation. There was 1 revision that occurred during the follow-up period with a patella resurfacing for continued anterior knee pain. Postoperatively, Oxford Knee Scores improved on average by 12.2 points. The 10-year and 20-year all-cause revision-free survival was 96.8, respectively. CONCLUSIONS: Despite the technical challenges and complexity associated with this unique patient cohort, we demonstrated excellent implant survivorship and clinical outcomes post-TKA with mid-term to long-term follow-up of more than 20 years. We recommend preoperative cross-sectional imaging for precise planning and implant templating with multidisciplinary team decision-making. Despite our results, functional outcomes remain inferior to primary arthroplasty within the general population, although we still recommend this treatment modality to appropriately counseled patients. LEVEL OF EVIDENCE: III.

Long-term Outcomes of Surgically Treated Congenital Dislocation of the Knee.

BACKGROUND: Congenital dislocation of the knee (CDK) may be idiopathic or associated with another condition, such as Larsen syndrome or arthrogryposis. Surgical reduction of type-3 dislocation may require quadricepsplasty (QP) or femoral diaphyseal shortening (FS). Because it is unknown which treatment is more effective, we evaluated long-term outcomes using patient-reported questionnaires and gait analysis, comparing results by surgery type and underlying diagnosis. METHODS: Twelve patients (mean age, 19 mo) were treated surgically for CDK from 1985 to 2015 and studied 9 to 30 years postoperatively. Three participants had idiopathic CDK, 5 had Larsen syndrome, and 4 had arthrogryposis. Eleven knees underwent QP and 7 underwent FS. Participants were evaluated in our movement science laboratory and completed patient-reported outcome questionnaires. Data were compared with healthy, age-matched control values at the same visit. RESULTS: Surgically treated knees had less flexion during swing ( P <0.01), less overall motion ( P <0.01), greater coronal instability ( P <0.04), and slower gait ( P <0.01) compared with controls. QP knees had more instability in midstance ( P =0.03) and less flexion during gait compared with FS knees, less sagittal power generation than controls ( P <0.01), and trended toward lower scores on Knee Injury and Osteoarthritis Outcome and Lysholm Knee Questionnaires than FS patients did. The idiopathic group had the gait most similar to that of controls, followed by the Larsen syndrome group and then the arthrogryposis group. The idiopathic group also had a better UCLA Activity Score ( P =0.03) than the arthrogryposis group did. CONCLUSIONS: Surgical treatment of type-3 CDK will not likely restore normal knee function, suggesting teratologic joint abnormality. In this small series, FS produced better gait mechanics and patient-reported outcomes compared with QP. Not surprisingly, patients with idiopathic CDK had better outcomes than those with a syndromic diagnosis, likely related to having only a single joint affected. LEVEL OF EVIDENCE: Level III.

An adolescent case of sellar osteochondromyxoma in the setting of spondyloepiphyseal dysplasia.

PURPOSE: Osteochondromyxomas (OMX) are rare congenital bone tumors that have only been described in the context of Carney complex syndrome (CNC). Data on OMX as a separate entity and in association with other disorders remain limited, making both diagnosis and treatment difficult. METHODS: A case report of a 17-year-old female diagnosed with sellar OMX is presented in the setting of spondyloepiphyseal dysplasia (SED). We discuss the radiographic and histopathological interpretations in addition to reviewing the current literature on OMX. RESULTS: A successful gross total resection of the tumor was achieved via an endonasal endoscopic transsphenoidal approach. A diagnosis was established radiographically and pathologically. CONCLUSION: The diagnosis and treatment of OMX are best achieved via tissue biopsy. Following confirmed osteochondromyxoma cases long term for recurrence and outcomes will be essential in understanding its natural tumor history and in establishing standard treatments.

Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature.

BACKGROUND: Spondyloepiphyseal dysplasia tarda (SEDT) is a rare, hereditary, X-linked skeletal disorder. To our knowledge, there are few reports about orthopedic surgery in these patients. This is the first report on patients with SEDT undergoing spinal and fracture reduction surgery. CASE PRESENTATION: A 31-year-old male patient who had been misdiagnosed with juvenile idiopathic arthritis (JIA) for 20 years and who had been treated with femoral shaft internal fixation for lower extremity fracture caused by minor trauma presented at hospital with stiffness and weakness in the lower extremities for the past two years. Radiographs showed bony dysplastic features of flattened vertebral bodies, Scheuermann-like changes in the spine, and osteoarthritis-like changes in the joints. Laboratory examination, including routine blood tests and rheumatism-related indicators showed negative results. Considering the history, radiology, and genetic findings, a diagnosis of spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) was considered. Further neurological examination indicated that severe spinal cord compression was an important reason for the patient's inability to walk. Laminectomy, spinal canal decompression, internal fixation and fusion were performed. Clinical outcome was satisfactory at one-year follow-up. The lower-limb fatigue was relieved, the patient could walk independently, and his examination showed osseous fusion. The English database was searched and the literature was reviewed for the relevant keywords of "SEDT-PA". CONCLUSIONS: Progress has been made in genetic research on SEDT; early diagnosis is particularly important, but the clinical diagnosis and treatment plans are still evaluated on a case-by-case basis. The best treatment for SEDT is to identify patients with progressive neurological and joint-mobility impairments and perform appropriate surgical intervention. Surgical intervention can improve neurological function and quality of life. However, surgery, as palliative care, does not alter the progression of the disease.

A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.

BACKGROUND: Spondyloepiphyseal dysplasia congenita is an autosomal dominant cartilaginous dysplasia characterized by short trunk, abnormal epiphysis, and flattened vertebral body. Skeletal features of SEDC are present at birth and evolve over time. Other features of SEDC include myopia and/or retinal degeneration with retinal detachment and cleft palate. A mutation in the COL2A1 gene located in 12q13.11 is considered as one of the important causes of SEDC. In 2016, Barat-Houari et al. reported a large number of COL2A1 mutations. Among them, a non-synonymous mutation in COL2A1 exon 37, c.2437G>A (p. Gly813Arg), has been reported to cause SEDC in only one patient from France so far. METHODS: We followed up a patient with SEDC phenotype and his family members. The clinical manifestations, physical examination and imaging examination, including X-ray, CT and MRI, were recorded. The whole-exome sequencing was used to detect the patients' genes, and the pathogenic genes were screened out by comparing with many databases. RESULTS: We report a Chinese patient with SEDC phenotype characterized by short trunk, abnormal epiphysis, flattened vertebral body, narrow intervertebral space, dysplasia of the odontoid process, chicken chest, scoliosis, hip and knee dysplasia, and joint hypertrophy. Gene sequencing analysis showed that the patient had a heterozygous mutation (c.2437G>A; p. Gly813Arg) in the COL2A1 gene. No COL2A1 mutation or SEDC phenotype was observed in his family members. This is the first report of SEDC caused by this mutation in an East Asian family. CONCLUSION: This report provides typical clinical, imaging, and genetic evidence for SEDC, confirming that a de novo mutation in the COL2A1 gene, c.2437G>A (p. Gly813Arg), causes SEDC in Chinese population.

Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?

BACKGROUND: Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH) are congenital skeletal disorders characterized by irregular epiphyses, mild or severe short stature and early-onset osteoarthritis which frequently affect the hips. The current study evaluates the long-term results of the Chiari osteotomy in MED and PSACH patients. METHODS: Twenty patients (14 MED and 6 PSACH) were retrospectively included. Clinical assessment used the Postel Merle d'Aubigné (PMA) score and the Hip disability and Osteoarthritis Outcome Score (HOOS). Risser index, Sharp angle, acetabular depth index, center-edge angle, Tönnis angle, and femoral head coverage were measured on the preoperative radiographs and at last follow-up. The Treble index, which identifies the hip at risk in MED patients, was also determined. Stulberg classification (grades I to V) was used to evaluate the risk of osteoarthritis in the mature hips.Statistical analyses determined differences between preoperative and postoperative data. The Kaplan Meier method was used to calculate the survival rate of the operated hips using total hip arthroplasty as the endpoint. RESULTS: Thirty-three hips which underwent a Chiari osteotomy were reviewed. The average follow-up was 20.1 years. The PMA scores were significantly better at last follow-up than preoperatively. All radiographic parameters significantly improved. Moreover, the Sharp angle, center-edge angle, and femoral head coverage improved to a normal value at hip maturity. All of the operated hips had a Treble index of type I. At hip maturity, a majority of hip were aspherical congruent (Stulberg grades of III and IV). The survival rate of the operated hips was 80.7% at 24 years postoperative. CONCLUSIONS: The Chiari osteotomy is a satisfying solution for severe symptomatic hip lesions in MED and PSACH patients. At long-term follow-up, this procedure lessens pain and improves hip function, which delays total hip arthroplasty indication. LEVEL OF EVIDENCE: Level IV.

Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders.

ABSTRACT: Otopalatodigital syndrome spectrum disorders are caused by Filamin A (FLNA) gene mutations. Otopalatodigital syndrome spectrum disorders are a group of rare congenital skeletal dysplasia, with specific craniomaxillofacial features including otopalatodigital syndrome type 1 and type 2, Melnick-Needles syndrome, frontometaphyseal dysplasia, terminal osseous dysplasia with pigmentary defects. The authors describe cases of a young girl with Melnick-Needles syndrome and a young boy with frontometaphyseal dysplasia treated in the Oral and Maxillofacial Surgery Department. Both patients had FLNA gene mutation confirmed with molecular genetic analysis. The authors proposed a 4 step treatment of the malformations with good outcomes both aesthetically and functionally, without complication.

Joint Replacements in Individuals With Skeletal Dysplasias: One Institution's Experience and Response to Operative Complications.

BACKGROUND: Skeletal dysplasias are a heterogeneous group of >400 genetic disorders characterized by abnormal bone growth. Many individuals experience joint pain and limitation, coming to require joint replacement much earlier than the average-statured population. In addition, prosthesis survival rate is less in the dysplastic population. The purpose of this study is to identify risk factors for surgery and provide recommendations to improve surgical outcomes. METHODS: This a retrospective review of 29 individuals with a skeletal dysplasia who had 64 joint replacements between April 1985 and January 2019 at a single institution. We collected demographics, physical examination, medical history, imaging studies, surgical indication, and complications. RESULTS: Spondyloepiphyseal dysplasia was the most common skeletal dysplasia (7), followed by pseudoachondroplasia (4) and multiple epiphyseal dysplasia (4). Average age of the cohort was 40.6 years (range 14-64). Hip arthroplasty (34) was the most commonly performed surgery. The majority of arthroplasties (75%) required custom components. Complication rate was 37.3%, most commonly pulmonary embolism (3) and pneumonia (3). Most complications (81.8%) occurred in individuals with either a pre-existing cardiopulmonary comorbidity or lumbar/sacral deformity. Body mass index did not correlate with complication severity (R = -0.042, P = .752) or rate (R = 0.006, P = .963). CONCLUSION: Surgical complications are highest in patients with pre-existing cardiopulmonary conditions. Body mass index does not predict complications in this cohort. Preoperative evaluations for individuals with skeletal dysplasias should include comprehensive work-up of spine issues and extraskeletal systems that present an operative risk. Intraoperative protocol should include special consideration for placement on the table, airway maintenance, and spinal cord monitoring in select cases.

Long-term Outcomes Following Vickers Ligament Release and Growth Modulation for the Treatment of Madelung Deformity.

BACKGROUND: Madelung deformity arises from a partial distal radial growth disturbance in combination with an abnormal hypertrophic ligament spanning the volar radius and carpus, termed, the Vickers ligament. The purpose of this study is to report long-term clinical and radiographic outcomes following Vickers ligament release and distal radial physiolysis in a population of skeletally immature patients with symptomatic Madelung deformity. METHODS: Medical records were retrospectively reviewed of patients with Madelung deformity surgically treated between 1994 and 2005. All eligible patients who underwent a Vickers ligament release and distal radial physiolysis were contacted and invited to return to the clinic for follow-up. RESULTS: Six patients (8 wrists) with Madelung deformity underwent Vickers ligament release and distal radial physiolysis. All were white females with a mean age at initial presentation of 11.4 years (10 to 12.8 y). Mean age at the time of initial surgery was 12.0 years (10.0 to 14.5 y). The median follow-up time was 10.6 years (5.8 to 21.9 y) and the average age at last follow-up was 23.1 years (17.5 to 32.2 y). Pain alone or in combination with concerns for deformity was the chief complaint in 6 of 8 of the wrists. At 1 year of clinical follow-up, 7 of 8 wrists were reported to be pain-free, and 6 of the 8 were noted to be completely pain-free at last follow-up. Motion in flexion, extension, pronation, supination, radial, or ulnar deviation was similar between the preoperative status and long-term follow-up. The average preoperative ulnar tilt was 35.1 degrees (SD: 8.5 degrees), average preoperative lunate subsidence was 1.9 degrees (SD: 1.8 degrees), and average preoperative palmar carpal displacement was 21.9 degrees (SD: 2.9 degrees). At the final follow-up, there was a large progression in lunate subsidence, but minimal change in ulnar tilt and palmar carpal displacement. At last clinical follow-up, 2 of the 6 patients had undergone a subsequent procedure including 1 radial dome osteotomy and 1 ulnar shortening osteotomy. CONCLUSION: In the skeletally immature patient population with Madelung deformity with growth potential remaining, distal radial physiolysis and Vickers ligament release is associated with relief of pain, preservation of motion, and, a reasonable rate of reoperation. TYPE OF STUDY: This was a therapeutic study. LEVEL OF EVIDENCE: Level II.

Treatment of Madelung Deformity With Vicker Ligament Release and Radial Physiolyses: A Case Series.

PURPOSE: To evaluate the surgical outcomes in a series of Madelung wrists treated with a Vicker ligament release at a young age. We hypothesize that early treatment of Madelung deformity with Vicker ligament release is safe and may minimize progression of deformity. METHODS: A retrospective review was performed at a single large pediatric institution from 2013 to 2016 of patients with a diagnosis of Madelung deformity treated with Vicker ligament release and radial physiolysis. Exclusion criteria included patients who were skeletally mature, who underwent osteotomy procedures, or who had incomplete follow-up. Patient demographics were collected, concomitant surgeries were recorded, and outcomes including range of motion and pain were documented. Measurements of standard anteroposterior and lateral radiographs were calculated before and after surgery to monitor radiographic deformity and progression. RESULTS: Six girls with bilateral Madelung deformity who underwent bilateral Vicker ligament resection and radial physiolysis (12 total wrists) were included. The average age at presentation was 7.5 years (range, 7-9 years), with an average follow-up of 30 months. Reasons for presentation included sports injuries (2), ulnar-sided wrist pain (2), and mild deformity (2). Additional radial and ulnar epiphysiodeses were performed in 2 wrists each. There were no intraoperative complications. Although pain resolved within the first month after surgery for all patients, 2 patients had intermittent unilateral ulnar-sided wrist pain at final follow-up. All patients returned to their presurgery activities. There was no loss of range of motion, and 4 wrists with preoperative supination deficits improved by an average of 17°. Radiographic measurements demonstrated improvement in the radial physeal angle in 10 out of 12 wrists (83%). No patients displayed worsening deformity after surgery. Two patients underwent subsequent procedures. CONCLUSIONS: In patients with early Madelung deformity, Vicker ligament release with radial physiolysis is a safe treatment option that theoretically has the potential to minimize the progression of radiographic deformity. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic V.

Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.

BACKGROUND: Coxa vara has been frequently reported in spondyloepiphyseal dysplasia congenita (SEDC), and proximal femoral osteotomy has been described as a useful treatment. The aim of this study was to discuss the clinical, radiographic, and gait outcomes after valgus extension osteotomy of the proximal femur. Changes of lumbar lordosis, associated with coxa vara correction, are reported as well as the outcome differences between different ages. METHODS: Records of children with SEDC, who were followed at our institution between 2004 and 2014, were reviewed; and children had hip surgery were identified. Hip pain and passive range of motion, radiographic neck shaft angle (NSA), and Hilgenreiner trochanteric (H-T) angle, sagittal spinopelvic parameters, and gait data were recorded. Preoperative and last follow-up data were compared. Outcomes were also compared between 3 age groups. RESULTS: Of the 79 children with SEDC, 26 children (12 boys and 14 girls) had hip osteotomy in 48 hips. Mean age at surgery was 9.6 years and the mean follow-up was 5 years. Preoperative hip pain was noted in 30 hips. At the last follow-up, 3 hips were painful at the extreme range of motion. Passive range of motion, NSA, and H-T improved postoperatively. Although NSA was maintained over the follow-up, H-T deterioration was noted. Spinopelvic measurements changed significantly and gait data remained stable except pelvic tilt that reduced significantly after surgery. The changes of radiographic measurements in each age group were similar to the total group of patients. CONCLUSIONS: In children with SEDC, surgical correction of coxa vara, by proximal femoral valgus osteotomy, is an effective treatment that improves hip pain and range of motion in addition to the radiographic alignment of the proximal femur and the sagittal spinopelvic alignment. Children are expected to maintain their level of function after surgery and to have good results over the midterm regardless of their age at surgery. LEVEL OF EVIDENCE: Level IV-therapeutic study.

Total Hip Arthroplasty Reduces Pain and Improves Function in Patients With Spondyloepiphyseal Dysplasia: A Long-Term Outcome Study of 50 Cases.

BACKGROUND: Spondyloepiphyseal dysplasia (SED) is rare genetic condition which leads to skeletal and joint deformities that can predispose patients to degenerative joint disease. There are limited reports on the results of total hip arthroplasty (THA) in this patient population. The purpose of this study is to review clinical and radiographic outcomes of THA performed in patients with SED at one institution. METHODS: Among 43,917 patients undergoing primary THA from 1970 to 2015, we identified 50 THAs performed in 29 patients with SED; 21 patients underwent bilateral THA (none simultaneous). There were 16 females and 13 males; mean age, body mass index, and height were 39 years, 28.7 kg/m2, and 145 cm, respectively. All patients were able to ambulate prior to the THA. Mean follow-up was 11 years (range 2-38). RESULTS: Mean implant survival for primary THA in SED patients at the 5, 10, and 20-year time points was 96%, 85%, and 55%, respectively. Thirteen patients required revision THA, most commonly for polyethylene wear (n = 6) and aseptic loosening (n = 5), and 4 additional patients underwent nonrevision reoperations. Prior to surgery, 90% of patients had severe or moderate pain, which was reduced to 8% of patients postoperatively (P < .001). Mean Harris Hip Score improved from 47 to 87 (P < .001). Prior to surgery, 64% of patients required gait aids, which reduced to 34% postoperatively (P < .001). CONCLUSION: THA provided significant pain reduction and improvement in function, with a majority of patients ambulating independently following the procedure. There was a high incidence of complications following THA in patients with SED, most commonly secondary to polyethylene wear and osteolysis from conventional polyethylene and historical implants. LEVEL OF EVIDENCE: Level IV, Therapy.

Evaluation of the Prevalence of Os Trigonum and Talus Osteochondral Lesions in Ankle Magnetic Resonance Imaging of Patients With Ankle Impingement Syndrome.

The prevalence of os trigonum and osteochondral lesions of talus (OCLT) have been presented in different prevalences among different groups in the literature for the patients with ankle impingement syndrome. Our main objective in the study was to determine the possible relationship between the impingement syndrome and the prevalence of os trigonum and OCLT in specific groups. The presence of anterior ankle impingement syndrome (AAIS), posterior ankle impingement syndrome (PAIS), os trigonum, OCLT, and the location of OCLT were evaluated in a blinded manner on magnetic resonance imaging from patients clinically considered to be diagnosed with ankle impingement syndrome from January 2014 to July 2017. The patients were separated into specific groups according to the confirmation of their clinical diagnosis of ankle impingement syndrome on magnetic resonance imaging . A total of 333 patients were included. The prevalence of os trigonum was found to be 1.3% in patients with PAIS(-) AAIS(+), 7.7% in patients with PAIS(-) AAIS(-), 63.3% in patients with PAIS(+) AAIS(-), and 81.1% in patients with PAIS(+) AAIS(+) (p < .001). The prevalence of OCLT was found to be 41.3% in patients with PAIS(-) AAIS(+), 23.1% in patients with PAIS(-) AAIS(-), 18.3% in patients with PAIS(+) AAIS(-), and 27% in patients with PAIS(+) AAIS(+) (p= .005). Our study showed that, for patients with isolated PAIS and AAIS combined with PAIS, the prevalence of os trigonum was 63.3% and 81.1%, respectively, which is more common than previously reported. For patients with isolated AAIS and PAIS, the prevalence of OCLT was 41.3% and 18.3%, respectively. Of the OCLTs combined with ankle impingement syndromes, 87.1% were medially located.

World's smallest combined en bloc liver-pancreas transplantation.

We present a case of a 2-year-old child who underwent a combined en bloc liver and pancreas transplant following complications of WRS. WRS is characterized clinically through infantile insulin-dependent diabetes mellitus, neutropenia, recurrent infections, propensity for liver failure following viral infections, bone dysplasia, and developmental delay. Usually, death occurs from fulminant liver and concomitant kidney failure. Few cases with WRS are reported in the literature, mostly from consanguineous parents. To the best of our knowledge, combined en bloc liver and pancreas transplant has not been performed in small children.

Successful transcarotid transcatheter aortic valve replacement in a 34-kg patient with Schimke immuno-osseous dysplasia and severe biscuspid aortic stenosis.

We present the case of transcatheter aortic valve replacement in a 20-year-old woman with severe bicuspid aortic stenosis and Schmike immuno-osseous dysplasia who was unfit for surgical aortic valve replacement. Meticulous pre-procedural planning and a multidisciplinary team approach can enable successful transcatheter aortic valve replacement in complex patients with genetic syndromes.

Lunate Grafting Into the Radius for Lunate Fossa Reconstruction in Madelung Deformity.

A 40-year-old woman presented with Madelung deformity and severe arthritic changes at both the radiocarpal and the distal radioulnar joints. She was treated by using her lunate as an osteochondral graft into the radius allowing reconstruction of the lunate fossa. The scaphoid and triquetrum were removed concomitantly and a Sauve-Kapandji procedure was performed. Complete bone healing was achieved. Ten years later, an excellent functional result was maintained, with a pain-free wrist, an acceptable wrist joint range of motion, as well as a favorable aesthetic appearance. This procedure may be indicated for patients with severe Madelung deformity with painful radiocarpal and distal radioulnar joints associated with severe arthritis changes.