Search Results (10)

Congenital genu recurvatum (CGR) is a rare congenital knee deformity that can be diagnosed pre- or postnatally. Most CGR cases are treated during infancy by manipulation and serial casting or splinting. Only a few neglected cases of CGR in adults with the necessity of surgical treatment have been reported. This study presents the first case of neglected bilateral severe CGR combined with bilateral talipes equinocavovarus (BTE) in a 25-year-old woman. This case is unique, because BTE is secondary to CGR with persistent progression into adulthood. The patient underwent two-stage surgeries with 1.5-month intervals to correct the knee and foot/ankle deformities. For CGR, a novel technique that combines posterior closing and anterior open wedge osteotomy was carried out to separately address the issues of 80° and 60° deformity, achieving a total correction of 140° for both knee hyperextension deformities. For BTE, the modified Lambrinudi triple arthrodesis and almost complete plantar fascia release were performed for the treatment of foot/ankle deformities. The patient had no neurovascular problems, and the wounds healed well. After 1 year of hospital-based rehabilitation training, the patient could stand and walk without the help of any walking-assist devices. The outcomes of the three- and nine-year follow-ups were highly satisfactory. Our patient represents a technically challenging case for orthopaedic surgeons because of the complexity of the surgical plan and techniques for the treatment of a patient concurrently having CGR and BTE. Full article

Background/Objectives: Types I, V, and XI collagen gene variants have been reported to associate with measurements of knee joint laxity and/or absolute knee ligament length changes. Type XII collagen and tenascin C are also ligament structural proteins whose expression is regulated by mechanical loading. This study investigated whether COL12A1 and TNC variants are associated with knee laxity and/or ligament length changes. Methods: Genu recurvatum, anterior–posterior tibial translation, external–internal tibial rotation, and ligament length changes were measured in 128 healthy participants. They were genotyped for COL12A1 (rs970547) and TNC (rs1061494, rs2104772, rs1138545). Results: Both the COL12A1 AA and TNC rs1061494 TT genotypes were associated with decreased external (p = 0.007, p = 0.010) and internal (p = 0.025, p = 0.002) rotation, as well as slack (p = 0.033, p = 0.014), in the dominant leg. Both genotypes, together with sex, weight, and/or COL1A1 genotypes, explained 26% and 32% of the variance in external and internal rotation, respectively. The TNC genotype, sex, and BMI explained 23% of the variance in slack. The COL12A1 AA and the TNC rs1061494 TT genotypes were associated with smaller changes in the MCL (aMCL: COL12A1 p = 0.009, TNC p = 0.045; iMCL: COL12A1 p = 0.004, TNC p = 0.043; pMCL: COL12A1 p = 0.003, TNC p = 0.067; aDMCL: COL12A1 p = 0.007, TNC p = 0.020; pDMCL: COL12A1 p = 0.007, TNC p = 0.023) and/or LCL (COL12A1 p = 0.652, TNC p = 0.049) lengths within the dominant knee. The TNC rs1061494 CC genotype was associated with larger changes in the non-dominant anterior (p = 0.021) and posterior (p < 0.001) ACL bundle lengths. Conclusions: These findings suggest that COL12A1 and TNC variants are associated with internal–external tibial rotation and knee ligament length changes in healthy individuals. Full article

Knee and foot deformities refer to structural abnormalities in the knee and foot bones, joints, ligaments, or muscles. Various factors, including genetics, injury, disease, or excessive use, can cause these deformities. These musculoskeletal conditions can significantly impact individuals’ quality of life. This study examined foot and knee deformities in 231 young healthy adults (165 men, 66 women) aged 22.6 ± 4.9 years and their association with physical activity and body composition. The postural assessment was performed by two Physiotherapists, with the subject standing in three views: side, anterior, and posterior. Physical activity (Baecke’s Habitual Physical Activity Questionnaire) and body composition (InBody 770) were assessed. Results showed that the most common foot deformity was pes planus, while the genu recurvatum was the most common knee deformity among the individuals. Physical activity level was negatively associated with knee and foot deformities. Conversely, body composition differed with the presence of genu recurvatum. These findings present a starting point to understand the occurrence of knee and foot postural alterations according to the individuals’ body composition and physical activity profiles, which could support the deployment of tailored interventions among healthy adults. In addition, early detection of postural changes is crucial in mitigating their negative long-term impact on physical well-being. Full article

The aim of this study was to compare anterior knee laxity (AKL), genu recurvatum (GR), and muscle stiffness between reconstructed and contralateral sides in females who underwent anterior cruciate ligament (ACL) reconstruction during early follicular and ovulatory phases. AKL was measured as an anterior displacement of the tibia using a KS measure. GR was measured as the range of motion of knee hyperextension using a hyperextension apparatus. Muscle stiffness was measured for semitendinosus (ST) and biceps femoris long head (BF) using a MyotonPRO. The study investigated eighteen knees in nine females (Age, 20.4 ± 1.5 years; BMI, 21.5 ± 1.5) with normal menstrual cycles at least 1 year after reconstruction using hamstring autograft. E2 (Estradiol) concentration did not differ between the two phases, but AKL on the reconstructed side was lower during the ovulatory phase (8.3 [5.9–9.3] mm) than during the early follicular phase (9.4 [7.3–9.7] mm) (p = 0.044, r = 0.756), whereas there was no significant difference between the two phases on the contralateral side. AKL side-to-side difference, GR, and muscle stiffness (ST and BF) on both sides did not differ in either phase. These results indicate that AKL may behave differently on the reconstructed and contralateral sides during the menstrual cycle. Full article

Genu recurvatum (knee hyperextension) is a common problem after stroke. It is important to promote the coordination between knee and ankle movements during gait; however, no study has investigated how multi-joint assistance affects genu recurvatum. We are developing a gait training technique that uses robotized knee-ankle-foot orthosis (KAFO) to assists the knee and ankle joints simultaneously. This report aimed to investigate the safety of robotized KAFO-assisted gait training (Experiment 1) and a clinical trial to treat genu recurvatum in a patient with stroke (Experiment 2). Six healthy participants and eight patients with chronic stroke participated in Experiment 1. They received robotized KAFO-assisted gait training for one or 10 sessions. One patient with chronic stroke participated in Experiment 2 to investigate the effect of robotized KAFO-assisted gait training on genu recurvatum. The patient received the training for 30 min/day for nine days. The robot consisted of KAFO and an attached actuator of four pneumatic artificial muscles. The assistance parameters were adjusted by therapists to prevent genu recurvatum during gait. In Experiment 2, we evaluated the knee joint angle during overground gait, Fugl-Meyer Assessment of lower extremity (FMA-LE), modified Ashworth scale (MAS), Gait Assessment and Intervention Tool (G.A.I.T.), 10-m gait speed test, and 6-min walk test (6MWT) before and after the intervention without the robot. All participants completed the training in both experiments safely. In Experiment 2, genu recurvatum, FMA-LE, MAS, G.A.I.T., and 6MWT improved after robotized KAFO-assisted gait training. The results indicated that the multi-joint assistance robot may be effective for genu recurvatum after stroke. Full article

Congenital knee dislocation (CKD) is a rare disease with an estimated incidence of 1 per 100,000 live births, characterized by a rare musculoskeletal malformation in genu recurvatum deformity present at birth, affecting one or both lower limbs. The diagnosis may be suspected during ultrasound when observing that the situation of the extremities is not correct, and is confirmed by physical examination at birth, with plain radiography being helpful to establish the degree of severity. At present there are controversies regarding treatment and there is no definitive protocol. We present a new case of CKD, observed in the city of Manizales, diagnosed immediately after birth. Full article

Joint laxity is a multifactorial phenotype with a heritable component. Mutations or common polymorphisms within the α1(V) (COL5A1), α1(XI) (COL11A1) and α2(XI) (COL11A2) collagen genes have been reported or proposed to associate with joint hypermobility, range of motion and/or genu recurvatum. The aim of this study was to investigate whether polymorphisms within these collagen-encoding genes are associated with measurements of knee joint laxity and computed ligament length changes within the non-dominant leg. One hundred and six healthy participants were assessed for genu recurvatum (knee hyperextension), anterior-posterior tibial translation, external-internal tibial rotation and ligament length changes during knee rotation of their non-dominant leg. Participants were genotyped for COL5A1 rs12722 (T/C), COL11A1 rs3753841 (C/T), COL11A1 rs1676486 (T/C) and COL11A2 rs1799907 (A/T). The genotype-genotype combination of any two or more of the four COL5A1 rs12722 CC, COL11A1 rs3753841 CC, COL11A1 rs1676486 TT and COL11A2 rs1799907 AA genotypes was associated with decreased active and passive knee hyperextension. These genotype-genotype combinations, including sex (male), increased age and decreased body mass collectively, also contributed to decreased passive knee hyperextension. These findings suggest that COL5A1, COL11A1 and COL11A2 gene-gene interactions are associated with knee hyperextension measurements of the non-dominant leg of healthy individuals. Full article

A case report of an 11-year-old boy with a de novo variant in NOTCH2 and clinical features characteristic of Hajdu-Cheney syndrome is reported, with acroosteolysis of the distal phalanges of the feet and hands, generalized osteoporosis, musculoskeletal and craniofacial alterations, short stature, bowing of long bones, vertebral anomalies, genu recurvatum, hypertrichosis, joint and skin hyperlaxity, atopic dermatitis, megalocorneas, micrognathia and frequent respiratory infections, among others. Treatment is with bisphosphonates in the framework of bone density improvement and with focal vibration therapy for rehabilitation of the musculoskeletal system and gait improvement. The three generalities of this pathology—phenotypic variability, degenerative character and the presence of generalized osteoporosis and acroosteolysis of the distal phalanges—are seen in this case, whose diagnostic confirmation was made by genetic study. Full article

The purpose of this study was to investigate the changes in anterior knee laxity (AKL), stiffness, general joint laxity (GJL), and genu recurvatum (GR) during the menstrual cycle in female non-athletes and female athletes with normal and irregular menstrual cycles. Participants were 19 female non-athletes (eumenorrhea, n = 11; oligomenorrhea, n = 8) and 15 female athletes (eumenorrhea, n = 8; oligomenorrhea, n = 7). AKL was measured as the amount of anterior tibial displacement at 67 N–133 N. Stiffness was calculated as change in (Δ)force/Δ anterior displacement. The Beighton method was used to evaluate the GJL. The GR was measured as the maximum angle of passive knee joint extension. AKL, stiffness, GJL, and GR were measured twice in four phases during the menstrual cycle. Stiffness was significantly higher in oligomenorrhea groups than in eumenorrhea groups, although no significant differences between menstrual cycle phases were evident in female non-athletes. GR was significantly higher in the late follicular, ovulation, and luteal phases than in the early follicular phase, although no significant differences between groups were seen in female athletes. Estradiol may affect the stiffness of the periarticular muscles in the knee, suggesting that GR in female athletes may change during the menstrual cycle. Full article

We describe the successful application of hinged ankle−foot orthoses (AFOs) in a cerebral palsied (CP) patient with gait instability due to a disrupted medial lemniscus (ML). The patient was a 27-month-old male CP child with gait instability who presented with reduced knee flexion and ankle dorsiflexion, with severe genu recurvatum on his right lower extremity during gait. The patient had no motor weakness or spasticity. Conventional magnetic resonance imaging (MRI) revealed no definite abnormal lesion. However, diffusion tensor tractography (DTT) showed disruption of the left ML, consistent with right hemiplegic symptoms. The integrity of the major motor-related neural tracts, including the corticospinal and corticoreticulospinal tracts, was preserved. We considered that the patient’s abnormal gait pattern was related to the disrupted ML state. We applied hinged AFOs, which immediately resulted in a significantly stabilized gait. The angles of knee flexion and ankle dorsiflexion increased. Our findings indicate that the application of hinged AFOs could be a useful therapeutic option for CP patients with gait instability related to ML disruption. In addition, we showed that DTT is a useful tool for identifying the causative brain pathology in CP patients, especially when conventional brain MRIs show no specific lesion. Full article