Hyperlaxity

INTRODUCTION: We report on a 4-year-old female patient who presented with severe intellectual disability, autistic features, hyperlaxity of joints, and progressive scoliosis. Whole-exome sequencing identified a de novo missense variant (c.976C>T; p.Arg326Cys) in DDX3X . CASE PRESENTATION: The girl was born with congenital diaphragmatic hernia a finding which had not previously been associated with variants in DDX3X . Her brain MRI showed hypogenesis of corpus callosum, ventriculomegaly, frontal and perisylvian polymicrogyria, and hypoplastic pons in addition to Dandy-Walker malformation...

The pathogenesis of recurrent chronic dislocation of the temporomandibular joint has been attributed to multiple factors, such as hyperlaxity of the soft tissues or alterations in the size of the temporal eminence. When there are no bone alterations, the injection of sclerosing solutions is an effective treatment that can be performed using a blind technique or with arthroscopy. This study presents an innovative technique for injecting ethoxysclerol into the posterior ligament through single puncture arthroscopy...

BACKGROUND: Recurrent anterior shoulder instability after arthroscopic Bankart repair presents a challenging clinical problem, with the primary stabilization procedure often portending the best chance for clinical success. PURPOSE: To determine if capsuloligamentous laxity affects failure (recurrent dislocation, subluxation, and/or perceived instability symptoms) after arthroscopic Bankart repair in patients with near-track lesions (ie, those with smaller distance to dislocation [DTD])...

Two (male and female) 10-month-old American Staffordshire Terrier littermates presented for progressive weakness, joint contracture, and distal limb joint hyperlaxity beginning around 6 months of age. Neurological examination, serum creatine kinase activity, infectious disease titers, cerebrospinal fluid analysis, and electrodiagnostic testing were performed. Muscle biopsies were collected for histopathology and immunofluorescence staining for localization of dystrophy associated proteins. Whole-genome sequencing (WGS) was performed on 1 affected dog...

Developmental dysplasia of the hip (DDH) is a condition that includes a wide spectrum of anomalies ranging from simple instability with ligamentous hyperlaxity to the complete displacement of the femoral head outside the abnormally developed cotyloid cavity. Early detection and initiation of treatment allow "restitutio ad integrum" healing, which has raised the medical community's interest in early diagnosis. However, in countries with limited material resources, where echographic screening is not performed, efforts are being made to increase the sensitivity of clinical screening...

BACKGROUND: The popularity of team handball is increasing with over 10 million children playing this overhead, throwing and collision sport with highest demands on the shoulder joint. Due to the risk for recurrent instability, the Latarjet-Patte (LP) procedure has been recommended to treat young competitive players. This is the first LP outcome study in professional handball. METHODS: We included 20 shoulders retrospectively (18 players/17 males/mean age 22.9 years, range 17-35 years; minimum/mean follow-up: 2/6...

Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disorder characterized by collagen synthesis disruption, resulting in joint hyperlaxity, skin and vascular fragility, and bleeding diathesis. Patients with EDS are susceptible to spinal deformities, with scoliosis accounting for up to 23.4% of musculoskeletal abnormalities. Conservative management is often trialed initially; however, severe scoliosis can lead to significant sagittal imbalance and cardiopulmonary compromise. Surgical intervention for scoliosis correction in patients with EDS presents unique challenges because of tissue fragility and an increased risk of vascular and wound complications...

Collagen XII, belonging to the fibril-associated collagens, is a homotrimeric secreted extracellular matrix (ECM) protein encoded by the COL12A1 gene. Mutations in the human COL12A1 gene cause an Ehlers-Danlos/myopathy overlap syndrome leading to skeletal abnormalities and muscle weakness. Here, we studied the role of collagen XII in joint pathophysiology by analyzing collagen XII deficient mice and human patients. We found that collagen XII is widely expressed across multiple connective tissue of the developing joint...

PURPOSE: To evaluate the correlation between keratoconus and systemic manifestations of tissue hyperlaxity in the general population. METHODS: In this population based cross-sectional study 940,763 medical records of Israeli adolescents and young adults in military service were reviewed. Demographic and medical data were extracted. The prevalence of ligament injuries, habitual orthopedic deformities and umbilical/inguinal hernia was evaluated in cases with and without keratoconus...

BACKGROUND: Lateral extra-articular tenodesis (LET) is being performed more frequently with anterior cruciate ligament (ACL) reconstruction (ACLR) to decrease graft failure rates. The posterior tibial slope (PTS) affects ACL graft failure rates. The effect of ACLR + LET on tibial motion and graft forces with increasing PTS has not been elucidated. HYPOTHESIS: LET would decrease anterior tibial translation (ATT), tibial rotation, and ACL graft force versus ACLR alone with increasing tibial slope throughout knee range of motion...

BACKGROUND: Atraumatic sternoclavicular joint (SCJ) instability is rare. Long-term outcomes are presented for patients managed with physiotherapy. A standardised method of assessment and treatment with a structured physiotherapy programme is also presented. METHODS: Long-term outcome was analysed in this prospectively collected series (2011-2019) of patients who were assigned to a structured physiotherapy programme for atraumatic SCJ instability. Outcome-measures (subjective SCJ grading of joint stability (SSGS score), Oxford shoulder instability score (OSIS adapted for SCJ) and visual analogue scale (VAS) for pain) were collected at discharge and long-term follow up...

The three major collagen VI genes: COL6A1, COL6A2, and COL6A3 encode microfibrillar components of extracellular matrices in multiple tissues including muscles and tendons. Pathogenic variants in the collagen VI genes cause collagen VI-related dystrophies representing a continuum of conditions from Bethlem myopathy at the milder end to Ullrich congenital muscular dystrophy at the more severe end. Here we describe a pathogenic variant in the COL6A1 gene (NM_001848.3; c.1741-6G>A) found in homozygosity in three patients with Ullrich congenital muscular dystrophy...

Chronic traumatic anterior shoulder instability can be defined as recurrent trauma-associated shoulder instability requiring the assessment of three anatomic lesions: a capsuloligamentous and/or labral lesion; anterior glenoid bone loss and a Hill-Sachs lesion. Surgical treatment is generally indicated. It remains controversial how risk factors should be evaluated to decide between a soft-tissue, free bone-block or Latarjet-type procedure. Patient risk factors for recurrence are age; hyperlaxity; competitive, contact and overhead sports...

Cardiac valvular Ehlers-Danlos syndrome (EDS) (type IV) is a rare subtype of the syndrome. The progressive and severe involvement of the heart valves is the principal characteristic of cardiovascular EDS, hence the necessity of the screening of patients with EDS for possible cardiovascular complications. We herein describe a 17-year-old male patient, with a known case of Ehlers-Danlos syndrome, who was referred to our center due to symptomatic severe mitral regurgitation. Echocardiography showed the flailing of the A3 scallop of the mitral valve (MV) and severe enlargement of the left ventricle and the left atrium with mild systolic dysfunction...

Despite growing concordance of opinion in the adult setting, pediatric elbow instability and its management are poorly represented in the literature due to its low prevalence and often unique circumstances. The authors present a case of posttraumatic recurrent posterior pediatric elbow instability in a patient with joint hypermobility. Our patient, a 9-year-old girl, sustained a right-sided supracondylar fracture of the humerus in April 2019. Having been managed operatively, the elbow remained unstable and dislocated posteriorly in extension...

UNLABELLED: The potential effects of asymptomatic flexible flatfoot (FF) on children's health-related quality of life (QoL) and objective clinical foot characteristics have been poorly investigated in the literature. Therefore, this study aimed to analyse these indicators, comparing the children with asymptomatic FF and a control group. METHODS: In total, 351 children were enrolled in this cross-sectional study-160 children with asymptomatic FF and 191 controls (children with normal feet)...

PURPOSE: To report the results of the onlay dynamic anterior stabilization (DAS) using the long head of biceps (LHB) and the double double-pulley technique for the treatment of anterior glenohumeral instability (AGI) with ≤20% glenoid bone loss (GBL). METHODS: From September 2018 to December 2021, patients with AGI and ≤20% GBL were enrolled in a prospective study on DAS and followed for a minimum of 1 year. The primary outcomes were Western Ontario Shoulder Instability Index, Rowe score, range of motion, and strength...

PURPOSE OF REVIEW: Traumatic and atraumatic shoulder instability is common in pediatric and adolescent patients. It is well-established that young patients with anterior shoulder dislocation are at high risk of recurrent instability. This review assesses the current literature pertaining to management of both anterior instability and MDI in the pediatric and adolescent populations. RECENT FINDINGS: Current research suggests that pediatric and adolescent patients with shoulder instability have excellent outcomes following arthroscopic Bankart repair; however, higher rates of recurrent instability requiring revision surgical management have been identified in patients with more than one dislocation episode pre-operatively, those with Hill-Sachs lesions and those under age 16...

Lateral patellar dislocations often occur in a young, athletic population of recurrent dislocators with generalized laxity and an interest in returning to an active lifestyle. A recent appreciation for the distal patellotibial complex has directed surgeons toward attempting to re-create the native anatomy and knee biomechanics during medial patellar reconstructive procedures. By reconstructing the medial patellotibial ligament (MPTL) in addition to the medial patella-femoral ligament (MPFL) and medial quadriceps tendon-femoral ligament (MQTFL), the current article describes a potentially more stable construct that can be utilized in patients with subluxation with the knee in full extension, patellar instability with the knee in deep flexion, genu recurvatum, and generalized hyperlaxity...

PURPOSE: Traumatic elbow dislocation is the second most frequent joint dislocation, even though the elbow is a congruent and stable joint. Individual variability in anatomical congruence of the elbow and how it relates to simple or complex instability has rarely been studied in the literature; we hypothesized that a greater articular coverage by the humeral trochlea would be more likely to result in complex dislocation. The aim of this study is to analyze trochlear morphology in simple (SED) and complex elbow dislocation (CED), to assess whether the degree of humeroulnar joint congruence influences the incidence of coronoid fractures in elbow dislocation...