Arthrogryposis is a clinical feature defined by congenital joint contractures in two or more different body areas which occurs in between 1/3000 and 1/5000 live births. Variants in multiple genes have been associated with distal arthrogryposis syndromes. Heterozygous variants in MYH3 have been identified to cause the dominantly-inherited distal arthrogryposis conditions, Freeman-Sheldon syndrome, Sheldon-Hall syndrome, and multiple pterygium syndrome. In contrast, MYH3 variants underlie both dominantly and recessively inherited Contractures, Pterygia, and Spondylocarpotarsal Fusion syndromes (CPSFS) which are characterized by extensive bony abnormalities in addition to congenital contractures. Here we report two affected sibs with distal arthrogryposis born to unaffected, distantly related parents. Sequencing revealed that both sibs were homozygous for two ultra-rare MYH3 variants, c.3445G>A (p.Glu1149Lys) and c.4760T>C (p.Leu1587Pro). Sequencing and deletion/duplication analysis of 169 other arthrogryposis genes yielded no other compelling candidate variants. This is the first report of biallelic variants in MYH3 being implicated in a distal arthrogryposis phenotype without the additional features of CPSFS. Thus, akin to CPSFS, both dominant and recessively inherited distal arthrogryposis can be caused by variants in MYH3.

BACKGROUND: Percutaneous needle tenotomies constitute a promising approach that enables direct access to tendons through minimally invasive interventions. They can be performed rapidly without need for large incisions or general anaesthesia. However, the reported procedures are heterogeneous and currently conducted without guidelines.
OBJECTIVE: We aimed to determine the indications for percutaneous needle tenotomies described in the current literature. Our secondary aim was to identify the different procedures reported, as well as their efficacy and their safety.
METHODS: A systematic review following PRISMA guidelines was conducted to identify original articles that mentioned percutaneous needle tenotomy in humans and reported its application, description, effectiveness or adverse events. Non-percutaneous tendinous surgical procedures and ineligible designs were excluded. The Downs and Black checklist was used to assess the risk of bias.
RESULTS: A total of 540 studies were identified from the MEDLINE, Embase, Cochrane Library, and PEDro databases. Fourteen clinical studies met the inclusion criteria and were found to have an acceptable quality (674 individuals, 1664 tenotomies). Our results indicated a wide variety of indications for percutaneous needle tenotomies in children and in adults. We highlighted 24 tendons as eligible targets in the upper and lower limbs. Tenotomies were performed with either 16- or 18-Ga needles, lasted from 1 to 30 min, and were performed using various procedures. Their efficacy was mainly assessed through clinical outcomes highlighting tendon discontinuity on palpation after the procedure. Passive range-of-motion gains after tenotomy were reported for both upper and lower limbs with an estimated 5 % complication rate.
CONCLUSIONS: This is the first review to systematically synthesize all the available evidence on the indications, procedures, efficacy and safety of percutaneous tenotomies exclusively performed with needles. Current evidence suggests that procedures are safe and effective for treating various deformities.
UNASSIGNED: CRD42022350571.

Children are disproportionately affected by burn injuries. Differences between adult and pediatric burns range from epidemiologic characteristics to pathophysiological considerations, which vary between different age subgroups. All these factors must be considered in each phase of burn care. This article reviews the most important aspects of the management of a pediatric burned patient starting from the acute through reconstructive phases.

Background: The natural history of spinal muscular atrophy (SMA) is well understood, with progressive muscle weakness resulting in declines in function. The development of contractures is common and negatively impacts function. Clinically, joint hypermobility (JH) is observed but is poorly described, and its relationship with function is unknown. Methods: Lower-limb ROM (range of motion) assessments of extension and flexion at the hip, knee, and ankle were performed. ROMs exceeding the published norms were included in the analysis. The functional assessments performed included the six-minute walk test (6 MWT) and the Hammersmith Functional Motor Scale-Expanded (HFMSE). Results: Of the 143 participants, 86% (n = 123) had at least one ROM measure that was hypermobile, and 22% (n = 32) had three or more. The HFMSE scores were inversely correlated with hip extension JH (r = -0.60, p = 0.21; n = 6) and positively correlated with knee flexion JH (r = 0.24, p = 0.02, n = 89). There was a moderate, inverse relationship between the 6 MWT distance and ankle plantar flexion JH (r = -0.73, p = 0.002; n = 15). Conclusions: JH was identified in nearly all participants in at least one joint in this study. Hip extension, knee flexion and ankle plantar flexion JH was associated with function. A further understanding of the trajectory of lower-limb joint ROM is needed to improve future rehabilitation strategies.

The pericellular matrix (PCM) is a specialized extracellular matrix that surrounds cells. Interactions with the PCM enable the cells to sense and respond to mechanical signals, triggering a proper adaptive response. Collagen VI is a component of muscle and tendon PCM. Mutations in collagen VI genes cause a distinctive group of inherited skeletal muscle diseases, and Ullrich congenital muscular dystrophy (UCMD) is the most severe form. In addition to muscle weakness, UCMD patients show structural and functional changes of the tendon PCM. In this study, we investigated whether PCM alterations due to collagen VI mutations affect the response of tendon fibroblasts to mechanical stimulation. By taking advantage of human tendon cultures obtained from unaffected donors and from UCMD patients, we analyzed the morphological and functional properties of cellular mechanosensors. We found that the length of the primary cilia of UCMD cells was longer than that of controls. Unlike controls, in UCMD cells, both cilia prevalence and length were not recovered after mechanical stimulation. Accordingly, under the same experimental conditions, the activation of the Hedgehog signaling pathway, which is related to cilia activity, was impaired in UCMD cells. Finally, UCMD tendon cells exposed to mechanical stimuli showed altered focal adhesions, as well as impaired activation of Akt, ERK1/2, p38MAPK, and mechanoresponsive genes downstream of YAP. By exploring the response to mechanical stimulation, for the first time, our findings uncover novel unreported mechanistic aspects of the physiopathology of UCMD-derived tendon fibroblasts and point at a role for collagen VI in the modulation of mechanotransduction in tendons.

The square flap method has been successful in releasing contracture bands at various body regions. However, the original square flap method alone may not be efficient in releasing long contracture bands. We, therefore, proposed an extended design to the traditional design, which is called the \"square-plus flap.\" A 4-year-old girl presented with a postburn web-like contracture band over the right axilla. We marked a square flap technique at the center of the contracture band and then two additional Z-plasties were placed on both edges of the flap. After the release and securing of the square flap, the adjacent distal Z-plasty was then transposed and sutured in their new locations. We do not need to incise the proximal Z-plasty as we could achieve complete relaxation of the contracture band. This novel modification can be added to the plastic surgeon\'s armamentarium for releasing long postburn contracture bands involving distinct body regions.

BACKGROUND: Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once.
METHODS: We describe a 23-year-old patient with Miyoshi myopathy with a rigid spine and multiple contractures, a rare phenotypic variant. The disease first manifested when the patient was 13 years old, with fatigue of the gastrocnemius muscles and the development of pronounced contractures of the Achilles tendons, flexors of the fingers, and extensors of the toes, followed by the involvement of large joints and the spine. Magnetic resonance imaging revealed signs of connective tissue and fatty replacement of the posterior muscles of the thighs and lower legs. Edema was noted in the anterior and medial muscle groups of the thighs, lower legs, and the multifidus muscle of the back. Whole genome sequencing revealed previously described mutations in the DYSF gene in exon 39 (c.4282 C > T) and intron 51 (c.5785-824 C > T). An immunohistochemical analysis and Western blot showed the complete absence of dysferlin protein expression in the muscle fibers.
CONCLUSIONS: This case expands the range of clinical and phenotypic correlations of dysferlinopathy and complements the diagnostic search for spine rigidity.

Contracturing granulomatous myositis is a rare myopathy in which patients present with flexion contractures of the upper limbs in addition to slowly progressive muscle weakness and pain. Whether it represents a distinct nosological entity remains a point of discussion. We present a patient with isolated granulomatous disease of the muscle that responded very well to intravenous immunoglobulins after treatment failure of corticosteroids and methotrexate.

OBJECTIVE: Despite rising prevalence rates, no standard tool is available to identify individuals at risk of developing contractures. This study aimed to gain expert consensus on items for the development of the Observational Risk Assessment Tool for Contractures: Longitudinal Evaluation (ORACLE) for care home residents.
METHODS: A two-round, online modified Delphi study.
METHODS: Panellists were qualified healthcare professionals with a background in physiotherapy, occupational therapy, nursing, and rehabilitation medicine.
METHODS: In the first round, the experts were asked to rate the predesigned list of items on a Likert scale while in the second round, consensus was sought in the areas of disagreement identified in the previous round.
RESULTS: The two rounds of the Delphi survey included 30 and 25 panellists, respectively. The average clinical and academic experience of the panellists was 22.2 years and 10.5 years, respectively. The panel demonstrated a high level of consensus regarding the clinical factors (10 out of 15 items); preventive care approaches (9 out of 10 items), and contextual factors (12 out of 13 items) ranging from 70% to 100%.
CONCLUSIONS: This Delphi study determined expert consensus on items to be included in a contracture risk assessment tool (ORACLE). The items were related to factors associated with joint contractures, appropriate preventive care interventions, and potentially relevant contextual factors associated with care home settings. The promise of a risk assessment tool that includes these items has the capacity to reduce the risk of contracture development or progression and to trigger timely and appropriate referrals to help prevent further loss of function and independence.

We report the third case of FADS due to biallelic DOK7 variants, which further strengthens the association of DOK7 with this lethal phenotype and lack of genotype phenotype correlation.