Total Closed Talar Dislocation without Ankle Fracture: A Case Report.

We report a case of a 61-year-old female who presented to the emergency room after a fall from stairs. A total closed talar dislocation without talus or ankle fracture was diagnosed. The treating surgeon indicated an open reduction after an unsuccessful attempt at closed reduction. After six months of follow-up, the patient reported mild pain and partial weight-bearing with no discomfort; however, signs of talar avascular necrosis were present on magnetic resonance images and CT scans.

Dislocations deteriorate postoperative functional outcomes in supination-external rotation ankle fractures.

PURPOSE: To assess the relationship between dislocation and functional outcomes in supination-external rotation (SER) ankle fractures. METHODS: A retrospective case series study was performed on patients with ankle fractures treated surgically at a large trauma center from January 2015 to December 2021. The inclusion criteria were young and middle-aged patients of 18-65 years with SER ankle fractures that can be classified by Lauge-Hansen classification and underwent surgery at our trauma center. Exclusion criteria were serious life-threatening diseases, open fractures, fractures delayed for more than 3 weeks, fracture sites ≥2, etc. Then patients were divided into dislocation and no-dislocation groups. Patient demographics, injury characteristics, surgery-related outcomes, and postoperative functional outcomes were collected and analyzed. The functional outcomes of SER ankle fractures were assessed postoperatively at 1-year face-to-face follow-up using the foot and ankle outcome score (FAOS) and American orthopedic foot and ankle society score and by 2 experienced orthopedic physicians. Relevant data were analyzed using SPSS version 22.0 by Chi-square or t-test. RESULTS: During the study period, there were 371 ankle fractures. Among them, 190 (51.2%) were SER patterns with 69 (36.3%) combined with dislocations. Compared with the no-dislocation group, the dislocation group showed no statistically significant differences in gender, age composition, fracture type, preoperative complications with diabetes, smoking history, preoperative waiting time, operation time, and length of hospital stay (all p > 0.05), but a significantly higher Lauge-Hansen injury grade (p < 0.001) and syndesmotic screw fixation rate (p = 0.033). Moreover, the functional recovery was poorer, revealing a significantly lower FAOS in the sport/rec scale (p < 0.001). Subgroup analysis showed that among SER IV ankle fracture patients, FAOS was much lower in pain (p = 0.042) and sport/rec scales (p < 0.001) for those with dislocations. American orthopedic foot and ankle society score revealed no significant difference between dislocation and no-dislocation patients. CONCLUSION: Dislocation in SER ankle fractures suggests more severe injury and negatively affects functional recovery, mainly manifested as more pain and poorer motor function, especially in SER IV ankle cases.

Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).

Larsen of La Réunion Island syndrome (LRS) is an autosomal recessive condition associated with multiple large joint dislocations, clubfeet, severe dwarfism, and distinctive facial features. LRS is caused by a recurrent homozygous variant in B4GALT7 gene with a founder effect in La Réunion population. Proteoglycans (PG) that are a major component of the extracellular matrix, are composed of a core protein connected to a glycosaminoglycans side chain via a tetrasaccharide linker region. B4GALT7 encodes galactosyltransferase I, one of the enzymes involved in the biosynthesis of the linker region. Conditions caused by pathogenic biallelic variants in genes implicated in the synthesis of the tetrasaccharide linker of PG are known as linkeropathies. Prenatal features are rarely described in this group of chondrodysplasias. We present a series of 12 unpublished patients having LRS and describe the perinatal phenotype. All the patients had a prenatal growth restriction with brevity of limbs. The other features revealed by ultrasounds were increased nuchal translucency at 10-12 weeks of gestation (50 %), feet abnormalities (clubfeet or metatarsus varus) (25 %), dislocation affecting at least one large joint (elbow, knee, wrist) (25 %). Bilateral bowing of femora was noted for two fetuses. Fibular hypertrophy was noted for one fetus. Prenatal helical computed tomography (CT) performed in three pregnancies showed additional data such as bowing of the forearm bones, proximal radio-ulnar synostosis, or dislocation of large joints. Prenatal sonographic and helical CT findings led to the prenatal diagnosis of LRS in four patients. We confirm that the neonatal clinical picture of LRS has an important overlap with that reported in patients with B4GALT7 deficiency outside La Réunion Island and other linkeropathies. The core of the phenotypic spectrum combines low birth height, micromelia, hypermobility, dislocation of at least one large joint, facial features with prominent eyes, microstomia, depressed nasal bridge, and midface hypoplasia. Other clinical features include clubfeet (33%), bifid thumb in one patient, and cardiac abnormalities in two patients. Radiological findings include radio-ulnar synostosis (75%), metaphyseal flaring, precocious carpal ossification, and a Swedish key appearance of the proximal femora. Finally, we also report radiological features rarely described in B4GALT7-linkeropathies, including bowing of the femora and fibular hypertrophy. Our results confirm the phenotypic continuum of LRS within linkeropathies with some additional findings, including a high frequency of clubfeet usually described in B3GALT6-linkeropathies, the presence of congenital heart diseases usually described in B3GAT3-linkeropathies, and a high frequency of metaphyseal flaring usually reported in B3GALT6 or XITLT1-linkeropathies. This is the first study that describes the perinatal phenotype in a cohort of patients with LRS. This study can help improve the prenatal diagnosis of the linkeropathies and add this group of conditions to the differential diagnosis of chondrodysplasias with multiple dislocations. In view of the founder effect for LRS in La Réunion Island, this disease should be suspected in fetuses with growth restriction and micromelia. Thus in case of LOH which include B4GALT7 identified in SNP-array, we recommend performing a targeted Sanger sequencing for the recurrent mutation c.808C > T; p. (Arg270Cys).

Comparison of Autologous Blood Injection and Dextrose Prolotherapy in the Treatment of Chronic Recurrent Temporomandibular Dislocation: A Randomized Clinical Trial.

Introduction: Prolotherapy is a minimally invasive technique that aims to functionally restore or repair the soft and hard tissues of the TMJ by injecting a stimulant. The present study was conducted to compare the effectiveness of dextrose and autologous blood injection (ABI) as prolotherapy agents in the treatment of patients with chronic recurrent TMJ dislocation (CRTD). Materials and Method: Thirty-two patients were divided into two groups-ABI and dextrose (n = 16 each). The superior joint space was located by means of cantho-tragal line and lavage. Delivery of prolotherapy agent was performed by single-needle technique. An elastic bandage was applied for a week and rehabilitation was initiated three weeks after the treatment. Pain level, joint hypermobility, maximal mouth opening, and frequency of dislocations were recorded at various follow-up intervals up to one year post-treatment. Results: No significant difference (p > 0.05) was seen for the values between both groups at all time intervals in the pain level. At the 6-month and annual follow-ups, the mouth opening of the patients treated with ABI was significantly lower (p < 0.01) as compared to those treated with dextrose. The patients treated with ABI therapy exhibited fewer dislocations (p < 0.05) within the following year. Conclusion: Prolotherapy is a relatively noninvasive, safer, and effective treatment modality with a high success rate for patients with CRTD. Both, ABI and dextrose, proved effective in reducing the pain and joint hypermobility associated with CTRDs within a week. ABI proved to be more efficient in reducing the mouth opening and limiting the dislocation of TMJ as compared to dextrose therapy.

Trapeziometacarpal Dislocations in Pediatric Age, Is There a Better Treatment? Series of Cases and a Systematic Review.

(1) Background: Dislocations of the trapeziometacarpal joint (TMC) are uncommon in children and adolescents. Only a few isolated cases are reported in the literature. Therapeutic guidance is minimal and inconclusive. (2) Methods: The authors present four patients treated for this unusual lesion. We evaluated the evolution according to treatment, age, patient activity, and quickDASH. Despite the clear limitation of the small number of patients, it is relevant to try to better understand this lesion and its evolution. A systematic review of the literature was also conducted. (3) Results: This is the largest published series of TMC dislocations in children and adolescents. Patients included a 12-year-old girl treated conservatively with a poor quickDASH; a 9-year-old girl treated surgically with the Eaton-Littler technique for a new dislocation with a partially modified quickDASH; a 13-year-old boy with two necessary closed reductions for a new dislocation and a very good final quickDASH; and a 12-year-old boy treated with closed reduction and percutaneous fixation with excellent final results with quickDASH. (4) Conclusions: In the absence of scientific evidence, conservative treatment and ligament reconstruction did not provide good functionality. In contrast, closed reduction with percutaneous fixation provided excellent results. Therefore, the authors would recommend closed reduction and percutaneous needle fixation as an elective method to treat TMC dislocations in pediatric and adolescent patients.

Eponymous terms in acromioclavicular joint surgery.

Eponymization serves as a means of paying tribute to individuals who have made significant contributions to our culture. Each eponym is often linked with a story for everyone to discover. To aid in the retention of these stories, this review offers readers an overview of the individuals behind the eponymous terms, as well as their original descriptions, within the context of acromioclavicular joint pathology and orthopaedic surgery.

Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.

CHST3-related chondrodysplasia with congenital joint dislocations (CDCJD, #MIM 143095), is a rare genetic skeletal disorder caused by biallelic loss of function variants in CHST3. CHST3 is critical for the sulfation of chondroitin sulfate. This study delineates the clinical presentation of nine individuals featuring the key symptoms of CDCJD; congenital joint (knee and elbow) dislocations, short trunk short stature progressive vertebral anomalies, and metacarpal shortening. Additional manifestations include irregular distal femoral epiphysis, supernumerary carpal ossification centers, bifid humerus, club foot, and cardiac abnormalities. Sanger sequencing was carried out to investigate molecular etiology in eight patients and exome sequencing in one. Genetic testing revealed five homozygous variants in CHST3 (four were novel and one was previously reported). All these variants are located on sulfotransferase domain of CHST3 protein and were classified as pathogenic/ likely pathogenic. We thus report on nine individuals with CHST3-related chondrodysplasia with congenital joint dislocations from India and suggest monitoring the health of cardiac valves in this condition.

Larsen Syndrome and Associated Spinal Deformities.

Larsen syndrome is a rare genetic disorder that affects the connective tissue within the body. The present narrative review aims to examine the genetic basis of Larsen syndrome, clarify its symptoms, and define all the existing therapeutic approaches. A comprehensive search was performed in the PubMed database. Inclusion criteria considered molecular and clinical studies, management and surgical treatment of related deformities, case reports of patients with the syndrome, reviews of the associated anomalies, articles whose full text is available in PubMed, and articles published in the English language. Larsen syndrome is caused by mutations in the FLNB gene, which encodes the cytoskeletal protein filamin B, crucial in the development of the skeleton. Symptoms include joint dislocations, characteristic facial features and anomalies of the spine. Larsen syndrome may be conservatively treated initially, although surgical intervention is usually required. Various surgical techniques, including posterior spinal fusion, anterior decompression, circumferential arthrodesis, and single-stage 360° fixation, have been proposed along with growth-sparing procedures. Preoperative and postoperative care and education ensure optimal results. Further research is needed to identify novel therapeutic modalities for this condition.

Subtalar dislocations: Mechanisms, clinical presentation and methods of reduction.

Subtalar joint is a complex joint in hindfoot formed by the talus superiorly and the calcaneus and navicular inferiorly. Subtalar dislocations are high-mechanism injuries, which are caused by simultaneous dislocation of both talonavicular and talocalcaneal joints, without major fracture of the talus. They are usually classified as medial (most common), lateral, anterior and posterior dislocations, based on the position of foot in relation to talus and the indirect forces that have been applied to cause this significant injury. They are usually diagnosed by X rays, but computed tomography and magnetic resonance imaging can be used to identify associated intra-articular fractures and peri-talar soft tissue injuries respectively. Majority being closed injuries, can be managed in ED by closed reduction and cast immobilisation, but if they are open, have poor outcomes. Complications that ensue open dislocations are post-traumatic arthritis, instability and avascular necrosis.

[Monteggia-like injuries : Pitfalls of surgical treatment]. / Monteggia-like-Verletzungen : Pitfalls der operativen Versorgung.

The term Monteggia-like lesions or Monteggia equivalent injuries includes fractures of the proximal ulna with dislocation and dislocation fractures of the radial head from the proximal radio-ulnar joint. The complexity of the injury requires a dedicated understanding of the anatomical structures and their biomechanical properties. Particularly due to the rarity, the complication and revision rates are high. A conservative treatment is not usually effective. Three-dimensional imaging by computed tomography is part of the surgical preparation. The goal of surgical treatment is osteosynthetic reconstruction of the fractures and restoration of joint congruency. In cases of nonreconstructable radial head fractures, radial head arthroplasty may be necessary. In addition to reconstruction of the bony stabilizers, refixation of the ligamentous structures is essential for treatment success. The combination of complex fracture patterns and possible dislocation positions in the ulnohumeral, radiohumeral and proximal radio-ulnar joints poses a great challenge to the surgeon. The most frequent complications are peri-implant infections, implant failure, loss of reduction, stiffness or instability. Especially the anatomical configuration of the proximal ulna is complex and requires accurate reconstruction. Therefore, reconstruction of the proximal ulna in length and rotation, including the coronoid process, is considered to be a key factor in the surgical treatment of Monteggia-like injuries.

[Ligamentous elbow injuries-When is surgical treatment still indicated?] / Ligamentäre Ellenbogenverletzung ­ Wann ist die operative Therapie noch indiziert?

The elbow joint is a hinge-type synovial joint and is the second most frequently dislocated joint in adults and the most frequently dislocated joint in children. To find the right treatment options a precise understanding of the injury pattern, anatomy, biomechanics and pathology (simple vs. complex dislocation) is essential for a good reconstruction of the function and to prevent chronic instability and pain. The differentiation between acute and chronic instability gives another variation in the treatment plan. According to the latest literature there are clear indications for surgery of a complex elbow dislocation, whereas for simple dislocations conservative treatment is preferentially recommended; however, when is the surgical treatment of a ligamentous elbow dislocation (still) indicated?

Fijación interna combinada con artroplastia total de cadera en fracturas acetabulares inveteradas complejas en ancianos. Reporte de caso / Internal fixation combined with total hip arthroplasty in complex inveterate acetabular fractures in the elderly. Case report

La fijación interna combinada con artroplastia en pacientes de edad avanzada, está indicada en fracturas acetabulares complejas inveteradas, artrosis preexistente, luxación inveterada, Impactación supero-medial de la cúpula acetabular, la finalidad de la cirugía es lograr la fijación de la columna anterior, columna posterior, lamina cuadrilátera y pared posterior para proporcionar estabilidad adecuada al componente acetabular y restaurar el centro de rotación de la cadera. Debido a la complejidad de estas lesiones, se decide presentar el siguiente caso clínico, que corresponde una paciente femenina de 70 años, quien posterior a traumatismo de baja energía presenta fractura inveterada compleja con patrón en T de Acetábulo de 8 meses de evolución. El Objetivo es: Evaluar los resultados del tratamiento de las fracturas acetabulares complejas en pacientes de edad avanzada con reducción abierta más fijación interna combinada con artroplastia total de cadera. Se realiza en un 1er tiempo: Abordaje Ilioinguinal, ORIF con placa de reconstrucción 3,5 mm para CA, 2do Tiempo: Abordaje de Kocher Langenbeck, ORIF con placa de reconstrucción 3,5 mm para CP y PP. 3er Tiempo: ATC izquierda primaria no cementada, con aporte biológico de injerto óseo autologo. Resultado: Se restableció la integridad de las líneas acetabulares, reducción anatómica según Matta, índice de Harris hip score de 88 puntos. Se concluye que el procedimiento combinado de ORIF mas ATC es el tratamiento ideal de las fracturas acetabulares complejas inveteradas en pacientes de edad avanzada(AU)

Internal fixation combined with arthroplasty in elderly patients is indicated in inveterate complex acetabular fractures, preexisting osteoarthritis, inveterate dislocation, supero medial impaction of the acetabular dome, the purpose of surgery is to achieve fixation of the anterior column (AC), posterior column (PC), quadrilateral plate, and posterior wall (PP) to provide adequate stability to the acetabular component and restore the hip center of rotation. Due to the complexity of these injuries, it is decided to present the following clinical case, which corresponds to a 70-year-old female patient, who, after a low-energy trauma, presents a complex inveterate fracture with a T-pattern of the acetabulum of 8 months of evolution. The Objective is: To evaluate the results of the treatment of complex acetabular fractures in elderly patients with open reduction plus internal fixation (ORIF) combined with total hip arthroplasty (THA). It is performed in a 1st stage: Ilioinguinal approach, ORIF with 3.5 mm reconstruction plate for (CA), 2nd Stage: Kocher Langenbeck approach, ORIF with 3.5 mm reconstruction plate for (CP) and (PP). 3rd Time: Uncemented primary left THA, with biological contribution of autologous bone graft. Result: The integrity of the acetabular lines was restored, anatomical reduction according to Matta, Harris hip score index of 88 points. It is concluded that the combined procedure (ORIF plus ATC) is the ideal treatment of inveterate complex acetabular fractures in elderly patients(AU)

Clavicular hook plate versus dog-bone technique for acute high-grade acromioclavicular joint dislocation: a retrospective cohort study comparing clinical outcome scores, complications, and costs.

INTRODUCTION: Arthroscopically assisted coracoclavicular (CC) ligament fixation techniques have been promoted as providing superior outcomes for the treatment of acute high-grade acromioclavicular joint (ACJ) dislocations. Nevertheless, there is a lack of high-level evidence for clinically relevant benefits. At our institute, orthopaedic surgeons use an arthroscopically assisted coracoclavicular ligament fixation technique (DB), while general trauma surgeons use a clavicular hook plate (cHP) technique. The aim of the study was to compare clinical outcomes, complication rates, and costs between the two groups. MATERIALS AND METHODS: The hospital database was searched for patients treated for acute traumatic high-grade (Rockwood Typ ≥ III) ACJ dislocation using either a cHP or arthroscopically assisted DB technique between 2010 and 2019. Seventy-nine patients could be included (56 patients in the cHP group and 23 in the DB group). QuickDASH scores, subjective shoulder value (SSV) scores, pain scores (numerical pain rating scale 10), and complication rates were retrospectively collected through phone interviews and by screening patient charts as well as surgical reports. Costs per patient were obtained from the hospital's accounting system. RESULTS: Mean follow-up was 54 ± 33.7 and 45 ± 21.7 months in the cHP and DB group, respectively. QuickDASH and SSV scores did not differ, but patients in the cHP group reported significantly lower pain scores (p = 0.033). More patients reported hypertrophic or disturbing scars (p = 0.49) and sensibility disturbances (p = 0.007) in the cHP group. Three patients suffered from a frozen shoulder in the DB group (p = 0.023). CONCLUSION: Patient-reported outcomes are excellent after long-term follow-up for both techniques. There are no clinically relevant differences in clinical outcome scores based on our results and a review of the literature. Both techniques certainly have their benefits regarding secondary outcome measures. LEVEL OF CLINICAL EVIDENCE: Level 3, retrospective cohort study.

TRANSOLECRANON FRACTURE-DISLOCATION: CONCEPTS AND FUNCTIONAL RESULTS OF SURGICAL TREATMENT.

Objectives: This study aimed to evaluate the functional results of the treatment protocol for the treatment of transolecranon fracture-dislocation, by surgical reduction and osteosynthesis with plate and screws, in patients attended at a referral hospital for orthopedic trauma, with a minimum follow-up period of six months. Methods: Twenty-five individuals treated surgically from January 2014 to November 2018 were selected for a primary observational longitudinal study using questionnaires to assess upper limb and elbow function (DASH and MEPS), quality of life (SF-12), pain (visual analog scale - VAS), and radiographic evaluation in anteroposterior and lateral views of the elbow. Results: Fifteen patients were male, and the mean age was 46.8 years. All participants had their fractures consolidated, with no radiolgraphic signs of implant failure, or degenerative arthritis. Mean range of motion was reduced relative to the contralateral limb: 102.6º for flexion-extension and 132.8º for pronation-supination. The mean MEPS and DASH scores were 89.6 and 16.5 respectively. There was no residual pain in 84% of the cases according to the VAS. Conclusion: The surgical treatment proposed for transolecranon fracture-dislocations showed satisfactory results according to MEPS, DASH scores and quality of life measures. Evidence Level IV; Retrospective observational study.

Objetivo: Avaliar os resultados funcionais do protocolo de tratamento da fratura-luxação transolecraniana, por redução cirúrgica e osteossíntese com placa e parafusos, nos pacientes atendidos em hospital de referência para trauma ortopédico, com seguimento mínimo de seis meses. Métodos: vinte e cinco indivíduos tratados cirurgicamente de janeiro de 2014 a novembro de 2018 foram selecionados para um estudo longitudinal observacional primário, utilizando questionários para avaliar a função do membro superior e cotovelo (DASH e MEPS), qualidade de vida (SF-12), dor (visual escala analógica - EVA), e avaliação radiográfica nas incidências anteroposterior e perfil do cotovelo. Resultados: Quinze pacientes eram do sexo masculino e a média de idade foi de 46,8 anos. Todos os participantes tiveram suas fraturas consolidadas, sem sinais radiográficos de falha do implante ou artrite degenerativa. A amplitude média do movimento foi reduzida em relação ao membro contralateral: 102,6º para flexo-extensão e 132,8º para pronossupinação. Os escores médios de MEPS e DASH foram 89,6 e 16,5, respectivamente. Não houve dor residual em 84% dos casos de acordo com a EAV. Conclusão: O tratamento cirúrgico proposto para a fratura-luxação transolecraniana apresentou resultados satisfatórios de acordo com MEPS, escores DASH e medidas de qualidade de vida. Nível de evidência IV; Estudo observacional retrospectivo.

SURGICAL TREATMENT OF ACROMIOCLAVICULAR DISLOCATION: HOOK PLATE VERSUS SUTURE BUTTON.

Objectives: We aimed to compare the functional and radiographical outcomes of reconstruction of acute unstable acromioclavicular joint (ACJ) dislocation using Hook Plate (HP) versus Suture Endobutton (SE) fixation techniques. Methods: Forty-six consecutive patients with grade III to V ACJ dislocation according to Rockwood classification who underwent either HP or SE fixation in the period between January 2017 and June 2020 were evaluated. The treatment modalities were divided into either HP or SE fixation. The radiological assessment included standard anterior-posterior (AP) views to evaluate coracoclavicular (CC) distances for vertical reduction. Results: CC distances were grouped as preoperative (CC1), early postoperative (CC2), and late postoperative (CC3). The distance variance between CC2 and CC3 was referred as ΔCC (CC3 - CC2). A statistically significant difference was found in ΔCC between the two groups (p=0.008). ΔCC was significantly higher in the SE group compared to the HP group (p<0.05). The Constant and UCLA Scores of patients in the SE group were found to be significantly higher than in the HP group patients. Conclusion: Clinical outcomes were more satisfactory in patients with acute unstable ACJ dislocation who underwent SE compared to HP procedures, at the end of the first year. Evidence Level IV; Case Series.

Objetivo: Nosso objetivo foi comparar os resultados funcionais e radiográficos da reconstrução da luxação instável aguda da articulação acromioclavicular (ACJ) utilizando técnicas de fixação com placa com gancho (HP) versus botão de sutura (SE). Métodos: 46 pacientes com luxação da ACJ de grau III a V, de acordo com a classificação de Rockwood, que foram submetidos à fixação com HP ou SE no período de janeiro de 2017 a junho de 2020, foram avaliados. As modalidades de tratamento foram divididas em fixação HP ou SE. Na avaliação radiológica, foi utilizada a incidência antero-posterior (AP) para avaliação da redução vertical, por meio da medida da distância córaco-clavicular (CC). Resultados: As distâncias CC foram agrupadas em pré-operatória (CC1), pós-operatória imediata (CC2) e pós-operatória tardia (CC3). A variação da distância entre (CC2) e (CC3) foi denominada ΔCC. Uma diferença estatisticamente significativa foi encontrada na ΔCC entre os dois grupos (p=0,008). O ΔCC foi significativamente maior no grupo SE em comparação com o grupo HP (p <0.05). As pontuações de Constant e UCLA dos pacientes do grupo SE foram significativamente mais elevadas do que as dos pacientes do grupo HP. Conclusão: Os resultados clínicos foram mais satisfatórios com a técnica SE em comparação com a HP ao final do primeiro ano. Nível de Evidência IV; Série de casos.

Congenital Knee Dislocation at Birth - An Extraordinary Case of Spontaneous Reduction.

Congenital knee dislocation (CKD) is a rare malformation characterized by hyperextension deformity of the knee with anterior tibia displacement, present at birth. Rarely reported, CKD might occur as an isolated deformity or commonly associated with musculoskeletal abnormalities, with the most common ones being developmental dysplasia of the hip (DDH) and clubfoot. The etiology is unknown, but CKD has been associated with certain intrinsic and extrinsic factors. Treatment with conservative methods at an early stage is most likely to yield successful results. We report here a rare case of successful spontaneous reduction of CKD in an infant within 24 hours of life.

A Chinese case of CHST3-related skeletal dysplasia and a systematic review.

PURPOSE: We reported a case with carbohydrate sulfotransferase 3 (CHST3) spondyloepiphyseal dysplasia and made a systematic review of all previously reported cases. METHODS: A 14.8-year-old boy underwent clinical, radiological, and genetic evaluations. The patients and five age-matched healthy boys accepted high-resolution peripheral quantitative computed tomography evaluation. All CHST3-related skeletal dysplasia cases from PubMed and Embase were collected and summarized. The genotype-phenotype correlation was analyzed. RESULTS: The proband complained of aggravated joint pain and had a compression fracture of L2 during his second decade. Physical examination showed a height Z score of -4.94, short limbs, and restricted movement of the elbows and knees. X-rays showed carpal epiphyseal dysplasia, enlargement of elbow and knee joints, and subluxation of the left hip. Echocardiography showed abnormal cardiac valves. Compared with the norm, his total and trabecular volumetric bone mineral density (BMD), and the microarchitecture of the trabecular bone had trends to be worse at the distal radius and tibia. Two novel missense variants of c.1343T>G and c.761C>G in CHST3 were inherited from his father and mother, respectively. In the systematic review, short stature, limited joint extension, joint pain, and joint dislocation were the most common characteristics of this disorder. Height Z score and the proportion of hearing impairment had no significant differences between the missense and nonmissense mutations groups. CONCLUSION: Progressive joint pain and movement restriction are the main characteristics of CHST3-related skeletal dysplasia. BMD and bone microarchitecture of this disorder needs further exploration. There is no apparent genotype-phenotype correlation in this disorder.

Congenital Knee Dislocation at Birth - An Extraordinary Case of Spontaneous Reduction / Luxação congênita do joelho no nascimento - Um caso extraordinário de redução espontânea

Abstract Congenital knee dislocation (CKD) is a rare malformation characterized by hyperextension deformity of the knee with anterior tibia displacement, present at birth. Rarely reported, CKD might occur as an isolated deformity or commonly associated with musculoskeletal abnormalities, with the most common ones being developmental dysplasia of the hip (DDH) and clubfoot. The etiology is unknown, but CKD has been associated with certain intrinsic and extrinsic factors. Treatment with conservative methods at an early stage is most likely to yield successful results. We report here a rare case of successful spontaneous reduction of CKD in an infant within 24 hours of life.

Resumo A luxação congênita do joelho (LCJ) é uma malformação rara caracterizada por deformidade de hiperextensão do joelho com deslocamento anterior da tíbia, presente ao nascimento. Raramente relatada, a LCJ pode ocorrer como uma deformidade isolada ou comumente associada a anormalidades musculoesqueléticas, sendo as mais comuns a displasia do desenvolvimento do quadril (DDQ) e o pé torto congênito (PTC). A etiologia é desconhecida, mas a LCJ foi associada a certos fatores intrínsecos e extrínsecos. O tratamento com métodos conservadores em um estágio inicial tem maior probabilidade de produzir resultados bem-sucedidos. Relatamos aqui um caso raro de redução espontânea bem-sucedida de LCJ em um bebê nas suas primeiras 24 horas de vida.