Genu Varum Research Articles

O18 When joints vanish

O18 When joints vanish

Using Combinations of Both Clinical and Radiographic Parameters to Develop a Diagnostic Prediction Model Demonstrated an Excellent Performance in Early Detection of Patients with Blount's Disease.

Early identification of pathological causes for pediatric genu varum (bowlegs) is crucial for preventing a progressive, irreversible knee deformity of the child. This study aims to develop and validate a diagnostic clinical prediction algorithm for assisting physicians in distinguishing an early stage of Blount’s disease from the physiologic bowlegs to provide an early treatment that could prevent the progressive, irreversible deformity. The diagnostic prediction model for differentiating an early stage of Blount’s disease from the physiologic bowlegs was developed under a retrospective case-control study from 2000 to 2017. Stepwise backward elimination of multivariable logistic regression modeling was used to derive a diagnostic model. A total of 158 limbs from 79 patients were included. Of those, 84 limbs (53.2%) were diagnosed as Blount’s disease. The final model that included age, BMI, MDA, and MMB showed excellent performance (area under the receiver operating characteristic (AuROC) curve: 0.85, 95% confidence interval 0.79 to 0.91) with good calibration. The proposed diagnostic prediction model for discriminating an early stage of Blount’s disease from physiologic bowlegs showed high discriminative ability with minimal optimism.

Outcome of Dome-Shaped Proximal Tibial Osteotomy in Infantile Genu Varum

Background: The goals of the proximal tibial osteotomy are correcting the deformity, Hip-knee-ankle angle, and preventing the progress of the destruction of the medial compartment of the knee joint. Objectives: The aim of the work was to evaluate the outcome of children with genu varum after proximal tibial dome shaped osteotomy. Patients and Methods: These randomized clinical trials study included a total of 10 patients with 12 affected knees confirmed with persistent physiologic genu varum, attending at Orthopedic Department, Zagazig University Hospitals, Zagazig, Egypt. All cases were evaluated pre and post-operatively according to Modified Hospital for Special Surgery Knee Scoring System (HSSKS) as shown in appendix I. cases were assessed for functional improvement after surgery at 2, 4 months and detection of malunion or delayed union after 3 months. Results: The mean (±SD) pre-operative tibio-femoral angle was 21.7 (±5.6) versus 3.18 (±1.97) post-operatively, pre-operative femoral condyle-tibial shaft angle (FTA) was 16.3 (± 2.8) versus 3.2 (±1.1) post-operatively and pre-operative metaphyseal diaphyseal angle was 15.8 (±2.6) versus 3.6 (±1.2) post-operatively with a statistically significant difference in between (p < 0.05). The mean pre-operative HSSKS scores were 70.16±11.3 while the mean post-operative HSSKS scores were 91.4±2.1. Conclusion: It could be concluded thatproximal tibial osteotomy using dome-shaped procedure to correct Infantile Genu varum deformity, has favorable treatment outcomes, does not involve any dangerous complications, and can be used as a safe and effective treatment method for the correction of infantile genu varum deformity. In the current study, angles significantly improved, most of legs got full correction and little complications occurred.

Orthopedic and neurosurgical care of X-linked hypophosphatemia

X-linked hypophosphatemia (XLH) is due to mutations in the PHEX gene leading to unregulated production of FGF23 and uncontrollable hypophosphatemia. XLH is characterized in children by rickets, short stature, waddling gait, and leg bowing of variable morphology and severity. Phosphate supplements and oral vitamin D analogs partially or, in some cases, fully restore the limb straightness. XLH patients may also be affected by premature, complete, or partial ossification of sutures between cranial bone, which could eventually result in cranial dysmorphia, decreased intracranial volume, and secondary abnormally high intracranial pressure with a cerebral compression.Our goal is to address the criteria and the management of the skeletal complications associated with XLH, mainly orthopedic and neurosurgical care, and reflect on decision-making and follow-up complexities.

Effect of Screw Configuration on the Rate of Correction for Guided Growth Using the Tension-band Plate.

This study investigated the effect of screw configuration on the rate of correction of coronal angular deformity of the knee joint in children who underwent guided growth using the tension-band plate. Consecutive patients (76 patients with 154 physes; mean age: 11.8±2.2 y) who underwent guided growth using the tension-band plate for coronal angular deformity (genu varum or genu valgum) were included. The mechanical lateral distal femoral angle, mechanical medial proximal tibial angle, and screw angle were measured from the teleroentgenograms of preoperative and postoperative periodic follow-up visits. The mean initial screw angle and the mean rate of correction were 16.7±10.5 degrees and 6.5±5.3 degrees per year, respectively. The rate of correction was significantly affected by age at surgery, sex, physis treated, severity of deformity, and rate of change in screw angle (all P<0.001). However, the initial screw angle and type of deformity did not affect the rate of correction. The rate of correction per year was 3.6 degrees higher in boys than in girls and 2.8 degrees higher in the distal femur than in the proximal tibia. A 1 degree increase in the rate of change in screw angle was associated with a 0.5 degree increase in the correction rate. Screw angle significantly increased with follow-up duration (P<0.001) and the change in screw angle was significantly affected by age, sex, and physis treated (all P<0.001). This study demonstrated that screw configuration did not affect the correction rate of coronal angular deformity for guided growth using the tension-band plate. Therefore, surgeons only need to insert the screws according to anatomic restriction, not considering the screw configuration when using the tension-band plate for guided growth in children. Prognostic level III.

PHYSIOTHERAPY REHABILITATION IN PATIENT WITH BOW LEG DEFORMITY

The knee is one of the largest and most complex joints in the body. The knee joins the thigh bone (femur) to the shin bone (tibia). The smaller bone that run alongside the tibia and the knee cap are the other bones that makes the knee joint. Osteoarthritis is the most common form of arthritis and often affects the knee, due to ageing. It can be common in children also. Prompt physical therapy leads to achieve functional goals. Bow leg deformity also called as genu varum. In this the legs are curved outwards at the knees. It is rarely serious and usually goes away with treatment. A 58-year-oldlady presented with genu varum which was diagnosed since last six years. The patient complains of chronic pain and was unable to walk and sit on the floor. The patient started physiotherapy treatment which comprise of exercises, electrotherapy, gait training for a period of six weeks which resulted in improvements in pain, range of motion, functional activities. The present case report suggests that classic and prompt structure physical rehabilitation led to improving the functional goals progressively and significantly which majorly leads to a successful recovery

Tibial condylar valgus osteotomy (TCVO): Surgical technique and clinical results for knee osteoarthritis with varus deformity

Tibial condylar valgus osteotomy (TCVO) is an intra-articular proximal tibial osteotomy developed in 1989 and has since been used for the treatment of knee osteoarthritis (OA) associated with genu varum. This article describes the surgical technique and clinical results of TCVO. TCVO can be used for all grades of varus knee OA in patients of any age. he preoperative range of movement should be at least 90°. Preoperative screening showed varus-valgus instability due to an intra-articular deformity of the proximal tibia. Using intraoperative image intensification, a sagittally oriented “L”-shaped osteotomy is made from the medial to the tibial tuberosity to the center of the tibial plateau between the medial and lateral tibial spines. The separation of the osteotomy using the lamina spreader is gradually increased using an image intensifier guidance until the articular surface of the lateral tibial plateau comes in contact with the articular surface of the lateral femoral condyle. Adequate correction is indicated by parallelism of the lateral tibial plateau and a line tangential to the distal convexity of the lateral femoral condyle on an anteroposterior (AP) image and the elimination of the valgus instability with the knee in extended position. A “T”-plate (locking or non-locking plate or circular external fixator) is used to fix the osteotomy in the corrected position. Synthetic or autologous bone grafts can be used. We used the Japanese Orthopaedic Association score to evaluate the patient's function and also measured the %MAD, medial plateau opening angle, medial plateau angle, and lateral plateau opening angle on an AP view of the long length roentgenogram of the lower limb (standing position). The JOA score, radiologically measured values, and instability of the knee joint remarkably improved.

Long-term effects of shoe mileage on knee and ankle joints muscle co-contraction during walking in females with genu varus.

Shoe mileage may influence the risk of sustaining injuries during walking. What are the effects of shoe mileage on knee and ankle muscle co-contraction during walking in females with genu varus? Fifteen healthy and 15 women diagnosed with genu varus received a new pair of running shoes. They were asked to wear these shoes over 6 months. Pre and post intervention, muscle activities of the dominant limb were recorded during a walking test at preferred gait speed. Two dependent variables were assessed to examine muscle co-contraction: (1) directed co-contraction ratios of agonists and antagonists, and (2) general joint muscle co-contraction. Results demonstrated significant main effects of the "shoe" factor for general ankle co-contraction during the push-off phase (p = 0.013, d = 1.503). Irrespective of experimental group, paired comparisons revealed significantly lower general ankle co-contraction during the push-off phase after the intervention. A significant main effects of "shoe" for general knee co-contraction during loading phase (p = 0.025, d = 0.895) was also observed. In both groups, paired comparison revealed significantly lower general knee co-contraction during the push-off phase in the post condition. We did not find any significant main effect of group nor group-by-shoe interaction for general ankle co-contraction during the stance phase. Likewise, we did not observe any significant main effect of "shoe", "group" and "group-by-shoe" interaction for mediolateral directed knee co-contraction during stance phase of walking (p > 0.05). Our findings showed that the shoe mileage but not the genu varus condition affects the general and directed co-contraction of the muscles stabilizing the knee and ankle joints. Together with the observed findings on ankle and knee muscle co-contraction, it is essential to change running shoes after a long wearing time in both healthy and genu varus females.

Infantile Blount’s Disease: A case report of 3 years old female of Zhob, Pakistan

Background; Blount’s disease is a rare developmental disorder of children which causes progressive bowing of lower limbs. The term “Blount” was named after American orthopedic surgeon “Walter Putnam Blount” who first described this condition. The etiology of Blount’s disease is unknown but believed to be multifactorial. Various predisposing factors have been attributed including obesity, early walking, race, pre-existing varus, increased pressure on growth plate and nutrition. Blount’s disease has been suggested to be more frequent in African, Afro-american populations. Blount’s disease has to be differentiated from physiological bowing (physiologic genu varum) and rickets. Early diagnosis and treatment of Blount’s disease is essential as the disease process is reversible in early stage. Case; A three years old female child was brought by her mother with complaint of progressive bowing of both lower limbs for last one year. She achieved her milestones at appropriate age and started walking at 11 months of age without support. On examination, her height was 90 cms (at 10th centile) and weight was 17 kgs (at 90th centile). BMI (body mass index) was 20.9 (obese). There were no clinical signs or symptoms of rickets i.e frontal bossing, wide wrist, rachitic rosary, carpopedal spasm, fits or muscle weakness etc. Roentgenogram showed tibia in varus with a peculiar beak at metaphysic and raised metaphyseal-diaphyseal angle (&gt;16 degrees). Serum calcium and serum vitamin D (25-hydroxy vitamin D) were normal. Serum alkaline phosphatase level was raised. Keeping in view typical history, examination findings and radiological epiphyseal beaking along with raised metaphyseal-diaphyseal angle, diagnosis of Infantile Blount’s disease was made. Conclusion; The clinicians should have a high suspicion of infantile blount’s disease when a child, more than 3 year’s age presents with severe varus deformity at proximal tibia with typical radiological findings. Characteristic radiologic findings along with history and examination help to distinguish it from physiologic bowing (physiologic genu varum) and rickets. Keywords; Blount’s disease, Physiologic genu varum, Rickets, Tibia vara, Osteochondrosis deformans tibiae

Knee measurements among children with normal alignment, physiologic and pathologic bowing aged 0-3 years old: a systematic review.

Distinguishing physiologic and pathologic genu varus is challenging among children below age 3. They can be assessed by measuring intercondylar distance (ICD), clinical tibiofemoral angle (cTFA) or radiologic TFA (rTFA). We aim to determine the knee measurement values among three groups of children. Medline (1946-) and EMBase (1947-) were searched until 31 July 2020 using a search strategy. Studies with original data which reported knee measurements among children with normal alignment, physiologic and pathologic bowing between the ages of 0-3 years were included. In total 1897 studies were identified, and 16 studies included after title and abstract screening. These studies involved 1335 patients with normal alignment, 286 with physiologic and 184 with pathologic bowing. Five studies provided data on ICD, seven on cTFA and eight on rTFA which were pooled for meta-analyses. Normal children had neither measurable ICD nor demonstrable varus on cTFA after 19 months old. The mean (95% confidence interval) ICD for children with pathologic genu varus at 18 months was 4.41 (4.19-4.63). The rTFA for children with pathologic compared to the physiologic bowing by age groups was; 11-20 months: 24.74°(23.22°-26.26°) vs. 19.44°(17.05°-21.84°), 21-30 months: 20.35°(18.13°-22.56°) vs. 14.72°(12.32°-17.12°) and 12-36 months: 32.60°(26.40°-38.80°) vs. 19.14°(17.78°-20.50°). Children above the age of 18 months with genu varus should be closely monitored clinically using ICD or cTFA. An ICD of more than 4 cm may warrant further investigation for pathologic cause. rTFA has limited use in the detection of pathologic varus.

Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2

Metaphyseal anadysplasia is a very rare hereditary skeletal dysplasia with onset occurring normally during the second and third years of life, but unlike many other dysplasias, symptoms appear to resolve by adolescence. Two types exist, the more severe form, type 1, with both autosomal dominant and recessive inheritance due to pathogenic variants in MMP13, whilst type 2, an even rarer form is due to biallelic MMP9 variants. To date, only two metaphyseal anadysplasia type 2 families have been reported. We describe a third family, a young boy, born to consanguineous parents, referred at 19 months old for abnormal gait due to bowed legs. Clinical and radiological examination revealed scoliosis, genu varum and metaphyseal abnormalities. A homozygous MMP9 nonsense variant, NM_004994.2:c.1764G>A; p.(Trp588*) was identified. By the age of 39 months, lower limb alignment and metaphyseal features had already significantly improved and scoliosis had disappeared. This case confirms that biallelic MMP9 variants cause this very rare skeletal dysplasia, metaphyseal anadysplasia type 2 but also shows that the skeletal manifestations can improve within a short period time and at an early age.

Diaphyseal and Metaphyseal Modeling Defects-Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia.

Background: Diaphyseal and metaphyseal modeling defects lead to severe changes in bone mass and shape, which are common features in osteoporosis that linked to non-vertebral fractures. Original mechanism of diaphyseal and metaphyseal modeling defects has proved elusive. Studying rare syndromes can elucidate mechanisms of common disorders and identify potential therapeutic targets.Methods: We evaluated a family pedigree with craniometadiaphyseal dysplasia (CRMDD, OMIM 269300), a genetic disorder that is characterized by cortical-bone thinning, limb deformity, and absent of normal metaphyseal flaring and diaphyseal constriction. Systemic radiographic examination and serum hormone test were made for this rare disease. One patient and her two normal parents were examined by means of whole-exome sequencing (WES) to identify the candidate pathogenic gene and rule out mucopolysaccharidosis and Prader–Willi Syndrome by means of Sanger sequencing.Results: There are several conspicuous radiographic characteristics: (1) bullet-shaped phalanges, (2) long and narrow pelvic inlet, absent of supra-acetabular constriction, (3) round rod-shaped long tubular bones, (4) prominent aiploic mastoid, (5) bending-shaped limb, genua varus and genu varum, and (6) congenital dislocation of elbow. Here, we did not find any wormian bones, and there are several typical clinical characteristics: (1) macrocephaly and wide jaw, (2) Avatar elf-shaped ears, pointed and protruding ears, (3) hypertrophy of limbs, (4) flat feet and giant hand phenomenon, (5) nail dystrophy, (6) limb deformity, (7) high-arched palate, (8) superficial hemangiomas, (9) tall stature, and intellectual disability. In this patient, we found biallelic frameshift deletion mutations in WRAP53, and those two mutations were transmitted from her parents respectively.Conclusions: We describe her clinical and radiological findings and presented a new subtype without wormian bones and with a tall stature. Our study showed that craniometadiaphyseal dysplasia was caused by a deficiency of WRAP53 with autosomal recessive inheritance.

Changes in the patellar height following open wedge high tibial osteotomy

Genu varum of the knee is a predisposing factor for osteoarthritis of the medial femoro-tibial compartment. High tibial osteotomy is the surgery of choice for such patients. Patello-femoral abnormalities have a negative effect on the prognosis of high tibial osteotomy. The aim of this study is to assess the changes in patellar height after medial open wedge high tibial osteotomy.Our study was performed in kafr el sheikh university hospital, orthopedic department during the period 2018-2019 on 30 patients.All patients were subjected to thorough clinical and radiological examination and follow up of all patients with Modified Hospital for Special Surgery knee scoring scale (modified HSS), was utilized and compared with its pre-operative valuesThere was significant decrease of patellar height from preoperatively postoperatively; this difference was statistically highly significant.The conclusion was that the High tibial osteotomy using the medial opening wedge technique causes reduction in patellar height due to relative joint line elevation and obliquity and it may be almost inevitable after this type of osteotomy.

A Biomechanical Analysis of the Effect of Pilates Exercise on Female College Students with Knee Joint Deformity

BACKGROUND Current research on genu varum shows the favorable influence of exercise on the biomechanics of the knee joint by reducing the static malalignment and mechanical imbalances, however the transference to a more optimum gait has not been investigated.OBJECTIVES To investigate the effects of Pilates exercise on the changes of gait and lower limb malalignment in female students with genu varum.METHODS A total of 23 female college students with verified genu varum participated in this study. The participants were randomly assigned to two groups a Pilates exercise group (n=15) and a control group (n=8). The Pilates exercise group participated in 1 hour Pilates exercise 3 times per week for a total of 10 weeks. Each of the participants had an X-ray and performed gait 5 times before and after the exercise treatment. The participants kinetic and kinematic data were gathered using an eight Vicon Motion camera system and two force platforms.RESULTS For the Pilates group gait their maximum extension and internal rotation knee moment, and maximum adduction and internal rotation hip moment significantly increased, while the maximum knee moment flexion decreased. For the control group gait their maximum hip extension and hip adduction moment significantly decreased. For the Pilates group there was a significant reduction in the distance from the anatomical axis to the weight bearing line in the left leg, but there was no significant change for the control group.CONCLUSIONS The results suggest that Pilates exercise may be beneficial for females with genu varum by helping to improve both their static alignment and helping their gait to become more balanced.

Lateral femoral closing wedge osteotomy in genu varum

The distal femoral valgisation osteotomy has a variety of indications due to enhanced understanding of segmental deformities of the lower limb. Historically, an overall varus deformity was corrected at the tibia, and a valgus deformity at the femur. This approach of performing an “all in the tibia” correction for an overall varus can nevertheless lead to abnormal postoperative morphology because it is non-anatomical; creating joint line obliquity, and potentially shear stress on the cartilage. An original lateral femoral closing wedge osteotomy technique is described, allowing the correction of a genu varum of femoral or mixed origin, in the event of an associated tibial valgisation osteotomy. The detailed technique minimizes the risk of a hinge fracture while improving post-operative outcomes.

The Metabolic Bone Disease X-linked Hypophosphatemia: Case Presentation, Pathophysiology and Pharmacology.

The authors present a stereotypical case presentation of X-linked hypophosphatemia (XLH) and provide a review of the pathophysiology and related pharmacology of this condition, primarily focusing on the FDA-approved medication burosumab. XLH is a renal phosphate wasting disorder caused by loss of function mutations in the PHEX gene (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). Typical biochemical findings include elevated serum levels of bioactive/intact fibroblast growth factor 23 (FGF23) which lead to (i) low serum phosphate levels, (ii) increased fractional excretion of phosphate, and (iii) inappropriately low or normal 1,25-dihydroxyvitamin D (1,25-vitD). XLH is the most common form of heritable rickets and short stature in patients with XLH is due to chronic hypophosphatemia. Additionally, patients with XLH experience joint pain and osteoarthritis from skeletal deformities, fractures, enthesopathy, spinal stenosis, and hearing loss. Historically, treatment for XLH was limited to oral phosphate supplementation, active vitamin D supplementation, and surgical intervention for cases of severe bowed legs. In 2018, the United States Food and Drug Administration (FDA) approved burosumab for the treatment of XLH and this medication has demonstrated substantial benefit compared with conventional therapy. Burosumab binds circulating intact FGF23 and blocks its biological effects in target tissues, resulting in increased serum inorganic phosphate (Pi) concentrations and increased conversion of inactive vitamin D to active 1,25-vitD.

Osteotomies around the knee lead to corresponding frontal realignment of the ankle

IntroductionDespite the fact that osteotomies around the knee represent well-established treatment options for the redistribution of loads and forces within and around the knee joint, unforeseen effects of these osteotomies on the ankle are still to be better understood. It was therefore the aim of this study to determine the influence of osteotomies around the knee on the coronal alignment of the ankle. We hypothesize that osteotomies around the knee for correction of genu varum or valgum lead to a change of the ankle orientation in the frontal plane by valgisation or varisation.Materials and methodsLong-leg standing radiographs of 154 consecutive patients undergoing valgisation or varisation osteotomy around the knee in 2017 were obtained and utilized for the purpose of this study. Postoperative radiographs were obtained after union at the osteotomy site. The hip knee ankle angle (HKA), the mechanical lateral distal femur angle (mLDFA), the mechanical medial proximal tibia angle (mMPTA) and five angles around the ankle were measured. Comparison between means was performed using the Wilcoxon-Mann–Whitney test.ResultsOne hundred fifty-four patients (96 males, 58 females) underwent osteotomies around the knee for coronal realignment. The mean age was 51 ± 11 years. Correction osteotomies consisted of 73 HTO, 54 DFOs, and 27 double level osteotomies. Of all osteotomies, 118 were for valgisation and 36 for varisation. For valgisation osteotomies, the mean HKA changed from 5.8° ± 2.9° preoperatively to − 0.9° ± 2.5° postoperatively, whereas the mMPTA changed from 85.9° ± 2.7° to 90.7° ± 3.1° and the malleolar-horizontal-orientation-angle (MHA) changed from 16.4° ± 4.2° to 10.9° ± 4.2°. For varisation osteotomies, the mean HKA changed from − 4.3° ± 3.7° to 1.1° ± 2.2° postoperatively, whereas the mLDFA changed from 85.7° ± 2.2° to 89.3° ± 2.3° and the MHA changed from 8.8° ± 5.1° to 11.2° ± 3.2°.ConclusionOsteotomies around the knee for correction of coronal limb alignment not only lead to lateralization or medialization of the weight-bearing line at the knee but also lead to a coronal reorientation of the ankle. This can be measured at the ankle using the MHA. When planning an osteotomy around the knee for correction of genu varum or valgum, the ankle should also be appreciated—especially in patients with preexisting deformities, ligament instabilities, or joint degeneration around the ankle.

A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl.

Pathogenic variants in the PHEX gene are causative of X-linked hypophosphatemic rickets (XLH). We present a case of a 2-year-old girl with hypophosphatemic rickets with genu varum and short stature without any family history of XLH. Next generation sequencing of the PHEX gene identified a splice donor variant, NM_000444.6:c.1173 + 5G > A in intron 10. This variant had a mosaic pattern with only 22% of the sequence reads showing the variant allele and was not present in the girl's parents, both of whom had a normal phenotype. This is a sporadic case of a de novo mosaic splice-site variant in the PHEX gene.

The analysis report of surgical treatment of limb deformity and disability: 35,075 cases

Objective To investigate the incidence characteristics and corrective strategies of various limb deformities treated by Qinsihe orthopaedic team in the past 40 years, so as to provide a large sample for understanding the causes, types and treatment methods of limb deformity and disability in China. Method A total of 35,075 cases were treated by Qinsihe orthopaedic team from May 1978 to December 2018. The age, gender, deformity characteristics, etiological and pathological composition, regional distribution and surgical methods of the patients were statistically analyzed. Results There were 20,458 males and 14,617 females. The age was 1 year to 82 years old, average 20.5 years. The majority of subjects were from 11 to 25 years old or 19,363 cases (63 %). There were 33,259 cases (94.82 %) of interventions on lower extremity. The geographical distribution of patients covers all the provinces, municipalities directly under the central government, autonomous regions in China and 12 foreign countries. There were 202 etiologies involving neurological, heredity, metabolism, traumatic sequelae, congenital, vascular, lymphoid, skin, endocrine, iatrogenic and so on. The top six deformities were due to poliomyelitis sequelae, cerebral palsy, traumatic sequelae, spondylolysis sequelae, genu varus&amp;valgus, congenital talipes equinovarus. There were 280 kinds of surgical methods, the majority of which were Achilles tendon lengthening, supracondylar osteotomy, subtalar joint arthrodesis, tibiofibular osteotomy, metatarsal aponeurosis and Achilles tendon replacement of peroneal longus muscle, etc. 8,702 cases were treated by orthopedic surgery combined with external fixation, including the Ilizarov fixator in 3,696 cases and hybrid fixator in 5,006 cases. Conclusion Qinsihe orthopaedic database with a history of 40 years is the largest one of limb deformity and disability in China. It reflects the etiology, type, population characteristics, surgical methods and strategy of limb disability and deformity, which can be treated by orthopaedic surgery. The data is a great treasure for orthopaedics and disability medicine in China and worldwide, and its important academic value and historical significance need to be further excavated and deep studied in future.

Schmid Type Metaphyseal Chondrodysplasia in a Large Single Genetic Lineage

Several subtypes of metaphyseal chondrodysplasia exist, of which the Schmid type is the most common. Characteristics include short limbed dwarfism, coxa vara, genu vara, and waddling gait. Skull, spine, and upper extremity involvement is minimal and often nonexistent. The primary defect involves a mutation affecting the metaphyseal portion of the growth plate, while the epiphysis is normal. A large single lineage family with metaphyseal chondrodysplasia, Schmid type (MCDS) was investigated. A genetic pedigree of 135 members of this family showed autosomal dominant inheritance between all 42 affected members. The large sample size allowed for the characterization of a broad range of features present in cases of MCDS. The majority of affected patients exhibited coxa vara with an average neck/shaft angle of 105 degrees. Despite coxa vara, premature osteoarthritis of the hip is not a feature of MCDS. Genu varum is the most prevalent knee disorder in this group, but greater than 30% of patients may exhibit genu valgum. This manuscript highlights MCDS background information, differential diagnoses, treatment options, and prognosis to aid in clinical decision-making.