Total Knee Arthroplasty Using Computer-Assisted Navigation in a Patient with Nail-Patella Syndrome: A Case Report.

CASE: Nail-patella syndrome (NPS) is a genetic disorder causing anatomical abnormalities about the knee, including significant patellar hypoplasia. We present a case of a patient with NPS and severe knee osteoarthritis undergoing computer-assisted total knee arthroplasty (TKA). Several intraoperative anatomical challenges were appreciated. Postoperatively, the patient developed arthrofibrosis requiring manipulation; however, his final outcome was favorable. CONCLUSION: Computer assistance may improve precision in patients with NPS undergoing TKA, but surgeons must be aware of the associated anatomic abnormalities and potentially increased risk of arthrofibrosis. Patellar resurfacing is often not feasible because of lack of bone stock.

Simultaneous kidney and pancreas transplantation in a patient with nail-patella syndrome and insulin-dependent diabetes.

BACKGROUND: Nail-patella syndrome (NPS) is a rare autosomal dominant disorder caused by a mutation in LIM-homeodomain transcription factor 1-beta (LMX1B) and characterized by nail dystrophy, skeletal changes, glaucoma, and kidney disease with up to 30% of patients progressing to kidney failure. Autoimmune diseases, including thyroid disease, have been reported previously in patients with NPS. CASE-DIAGNOSIS/TREATMENT: We report the case of a pediatric patient with NPS with kidney failure, hypothyroidism, and type 1 diabetes mellitus. The patient's pedigree and identification of a kidney specific mutation in LMX1B was a result of whole exome sequencing. Clinical data was obtained from retrospective chart review and included the 1-year post-transplant follow-up period. At 15 years of age, our patient received a simultaneous kidney-pancreas transplantation, from a 3 HLA antigen mismatched deceased donor. The donor was CMV + , EBV - and our patient was CMV - , EBV - at time of transplant. Our patient maintained normal kidney function and euglycemia without insulin therapy at 1 year post-transplant. CONCLUSIONS: The patient's hypothyroidism, diabetes mellitus, and kidney failure may all be related to LMX1B mutation. Further study is needed to clarify the genetic link between these processes. Simultaneous kidney-pancreas transplantation can be used to successfully treat diabetes mellitus and kidney failure in a pediatric patient.

Total Shoulder Arthroplasty in a Patient with Nail-Patella Syndrome: A Case Report.

CASE: A 62-year-old woman with a medical history of nail-patella syndrome (NPS) presented with chronic right shoulder pain. Physical examination revealed that her right shoulder had a restricted range of motion. Radiograph of the shoulder revealed arthritic changes with glenohumeral joint space narrowing, inferior humeral head osteophytes, and posterior glenoid wear. The patient was successfully treated with total shoulder arthroplasty (TSA). The patient had an uneventful postoperative course and was satisfied with her quality of life at the 30-month follow-up. CONCLUSION: TSA may be successfully performed with careful reaming of the hypoplastic glenoid fossa in patients with NPS.

Unicompartmental Knee Arthroplasty in a Patient with Nail-Patella Syndrome: A Case Report.

CASE: A 46-year-old woman with a medical history of nail-patella syndrome (NPS) presented with chronic right knee pain. Radiographic and physical examination revealed isolated medial tibiofemoral osteoarthritis and a hypoplastic laterally subluxed patella. The patient was successfully treated with a medial unicompartmental knee arthroplasty (UKA). CONCLUSION: In patients with NPS and osteoarthritis limited to one tibiofemoral compartment, a UKA may be successfully performed.

Total knee arthroplasty in a patient with nail-patella syndrome (NPS).

Nail-patella syndrome (NPS) or hereditary onycho-osteodyaplasia is a rare genetic condition involving a mutation in the LMX1B gene affecting nails, elbows, knees, and pelvis. Due to the regulatory functions of the gene in many developmental processes through the body, patients with NPS experience wide-ranging musculoskeletal problems including patellar instability, fingernail anomalies, iliac exostoses/horns, and elbow abnormalities. The patellar changes often involve aplasia, hypoplasia, and chronic dislocation. Due to these musculoskeletal involvement, arthritis of joints can occur in patients with NPS causing severe pain and disability. This is a case report of a patient with NPS who underwent a total knee arthroplasty for symptomatic knee arthritis.

Nail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey.

BACKGROUND: Patellofemoral instability and dysfunction are frequent symptoms in Nail patella syndrome (NPS). In this article, the first large series of NPS patients is presented in which these knee symptoms were assessed using validated outcome scores. Additionally, the need for surgical interventions, percentage of patients who received surgical treatment and patient reported outcomes are reported. METHODS: A questionnaire based survey was conducted in 139 Dutch NPS patients. Symptoms of the knees were assessed by the Knee injury and Osteoarthritis Outcome Score (KOOS) and Kujala knee score. The questionnaire addressed whether surgical intervention was currently considered, history of past surgeries, type of surgical procedures performed and results of these procedures. RESULTS: Response rate was 74%. Mean KOOS (73.04) and Kujala (74.01) scores showed a wide range and variability between patients. Patellofemoral instability was present in 48.5% of patients. Surgical intervention was currently considered by 12% of patients. Their KOOS and Kujala scores were significantly lower compared to those not considering surgery and they experienced more patellar instability. Surgery was performed on 31 knees in 23 patients. KOOS and Kujala scores were lower in surgically treated versus nonoperated patients but no difference in patellar instability was present. An improvement in pain in 87% and in function in 30% of knees was reported after surgery. Patient satisfaction with the surgical results was 61% and 10% was dissatisfied. Patellar realignment procedures showed similar results, although persistent patellar instability was reported in 40% of patients, not different from nonoperated patients. CONCLUSIONS: Knee symptoms in NPS patients vary widely, with patellar instability present in nearly half of the patients. Although surgical treatment appears unfavourable as surgically treated patients have lower KOOS and Kujala scores, the patient reported surgical results are generally good with a high patient satisfaction. LEVEL OF EVIDENCE: Level IV.

Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature.

Nail-patella syndrome (NPS) or hereditary onycho-osteodysplasia is a relatively rare autosomal dominant disorder with the classic tetrad of fingernail abnormalities, hypoplastic patellae, radial head dislocation and iliac horns. The anatomic abnormalities in NPS often lead to subluxation or dislocation of the patellaeca causing knee instability and pain. Although most existing literature regarding the knee manifestation of this syndrome has focused on the clinically and radiological changes, only a few articles discussed the surgical treatment. This study reports the clinical, radiological and arthroscopical findings and a 24-month follow-up after operative stabilisation considering the underlying pathomorphology of malformative patellar instability in an 11-year-old girl. The findings of this study confirm the unique pathology of NPS with a synovial band preventing the engagement of the patella into the trochlear groove. NPS is a rare disorder and has to be considered in cases with untypical patella dislocation. The underlying pathology differs completely from patients with patellofemoral instability. The aim of orthopaedic surgery should be correction of the underlying pathology with resection of the synovial band and an additional realignment of the patella by recentering of the quadriceps muscle. Considering the underlying pathology good clinical results can be expected.

[Clinical, radiological and arthroscopical aspects in nail patella syndrome. Literature review based on an affected family]. / Klinische, radiologische und arthroskopische Aspekte des Nagel-Patella-Syndroms (NPS). Literaturübersicht am Beispiel einer betroffenen Familie.

Nail patella syndrome (NPS) is an autosomal dominant hereditary disorder affecting the nails, skeletal system, kidneys, and eyes. Skeletal features include absent or hypoplastic patellae, patella dislocations, elbow abnormalities, talipes and iliac horns on plain films. The existing literature focuses on clinical and radiographic findings in patients with NPS. We also report the case of a 40-year-old male patient and his family affected by NPS and includes clinical, radiographic as well as arthroscopic findings. Arthroscopic findings in this case are characterized by multiple synovial plicae in the knee joint leading to cartilage defects on the corresponding cartilage surfaces. A review of the recent literature suggests that the occurrence of synovial plicae might be related to NPS and might account for at least part of the characteristic symptoms of these patients. Therefore, in cases of unspecific knee pain associated with NPS arthroscopy of the knee joints and plicae resection seems to be recommendable.

Nail-patella syndrome in Saudi Arabia with new features and surgical procedures: the first described study.

The purpose of this study was to reveal the occurrence of nail-patella syndrome (NPS) in Saudi Arabia together with the detection of abnormal attachment of lateral meniscus in the left knee and new surgical procedures applied to the right and left knee, reported for the first time in this study. This was a case study of a 23-year-old young man presenting with bilateral knee pain, giving way and locking since the age of 15 years. Clinically, most of the NPS features were noted, including ocular problems. The complex features affected both knees, especially the previous attempted surgeries for recurrent dislocation of patellae. Deficient ligaments were reconstructed using the Leeds-Keio ligament, starting with the right knee and continuing with the left knee 6 months later. Early and late follow-up showed favorable outcome of surgery revealed as independent ambulation and stable right and left knees. In conclusion, NPS, although rare, presents a complex problem and unexpected surgical outcome, and we recommend this procedure with close follow-up.

Nail-patella syndrome: long term evolution.

Nail-patella syndrome is a rare dysplasia characterized by a typical tetrad: hypoplasic nails, hypoplasic or absent patella, radial head dislocation and iliac horns. We review eight patients, four men and four women, aged from 20 to 70 years. The main complaint at consultation was with their knees due to patellar instability and pain. Five of them required surgical treatment due to patellar dislocation and three patients were not treated. The Krogius-Lecène procedure was performed in four patients with a good result following the Insall classification of pain and instability and with an average follow-up of 24 years (range, 18-28 years). Patellectomy was performed in the eldest patient due to femoropatellar arthritis present at first consultation. No patients presented with elbow or nail disorders or with iliac horns.

Surgical management of congenital permanent dislocation of the patella in nail patella syndrome by Stanisavljevic procedure.

We report a patient with nail patella syndrome associated with congenital permanent dislocation of the patella successfully operated on using a modified Stanisavljevic method. The patient, a 26-year-old woman, complained of inability to completely extend her right knee joint. She had occasionally experienced the "giving way" phenomenon since childhood, but she had not received any treatment since birth. Physical examination showed that all fingernails were deformed, with longitudinal striations, while the lunules were of an abnormal triangular shape or were missing. Both patellae were palpably hypoplastic, with the right patella dislocated laterally, and the knee had an extension lag of 90 degrees. Thigh and leg muscle were slightly underdeveloped, but quadriceps muscle contraction was good. Several radiographs were taken and they showed bilateral iliac horns and hypoplasia of the bilateral humero-radial joints and of both patellae, and complete dislocation of the right patella. We employed the Stanisavljevic procedure for the reduction of the patella, with Z-lengthening of the rectus femoris and medial translocation of the tibial tuberosity. Four years after the operation, a 30-degree extension lag still exists in the right knee, but the treatment resulted in stable alignment of the quadriceps mechanism, and notably improved gait appearance.

Total knee arthroplasty for osteoarthritis in hereditary onycho-osteodysplasia (nail-patella syndrome): a case report.

Onycho-osteodysplasia is an unusual disorder that affects bone, fingernails, and the kidneys. The knees may be involved with a hypoplastic, dislocated patella, and premature osteoarthritis with deformity may develop. The following is a case report of a patient with this disorder in which a total knee arthroplasty was performed.

[Congenital insufficiency of the distal support function of the first ray of the foot]. / Angeborene Insuffizienz der distalen Stützfunktion des ersten Fussstrahls.

Five patients with congenital deficiency of antero-medial support have been examined and treated at the Hôpital cantonal, Geneva. The main symptoms of these patients were global metatarsalgia and a dorsal bunion. All lesions were bilateral. Four of the patients had a localised dyslatia of the first ray, whereas one of them suffered from a nail patella syndrome. In two patients there was a hypoplastic first metatarsal, whereas in three others the first metatarsal was normal but too elevated under weight bearing. One patient responded well to conservative treatment. In three cases a lowering osteotomy of the first metatarsal bone with autologous bone graft was performed. The last patient was treated by arthrodesis between the first cuneiform and the first metatarsal for plantar-flexion the first ray. In one case it was necessary to transfer the long flexor of the great toe onto the first metatarsal according to Lapidus in combination with an arthrodesis of the great toe. One patient underwent an arthrodesis between the first cuneiform and the first metatarsal combined with an arthrodesis of the great toe. A Helal-type osteotomy on the second metatarsal was necessary in one case. The objective and subjective results were good or excellent. All treatments eliminated the painful symptoms, allowing all patients to resume a normal professional activity.

Nail patella syndrome: a review of 44 orthopaedic patients.

Nail patella syndrome is a rare dysplasia with characteristic findings of finger nail abnormalities, hypoplastic patellas, radial head dislocations, and iliac horns. We reviewed the problems and treatment of 44 patients with this syndrome from 13 Shriners Hospital units. The inheritance pattern is autosomal dominant, with foot abnormalities as the chief presenting complaint. All patients were ambulatory. Twenty of the patients underwent knee operations, and 24 underwent operations to correct foot and ankle deformities. Knee extensor realignments and foot posteromedial releases had overall good results. Knee flexion contractures required full posterior capsular releases. Elbow reconstructive procedures were rarely indicated.