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Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohort of 89 families with the clinical sign of arthrogryposis. Additional molecular techniques including array comparative genomic hybridization (aCGH) and Droplet Digital PCR (ddPCR) were performed on individuals who were found to have pathogenic copy number variants (CNVs) and mosaicism, respectively. A molecular diagnosis was established in 65.2% (58/89) of families. Eleven out of 58 families (19.0%) showed evidence for potential involvement of pathogenic variation at more than one locus, probably driven by absence of heterozygosity (AOH) burden due to identity-by-descent (IBD). RYR3, MYOM2, ERGIC1, SPTBN4, and ABCA7 represent genes, identified in two or more families, for which mutations are probably causative for arthrogryposis. We also provide evidence for the involvement of CNVs in the etiology of arthrogryposis and for the idea that both mono-allelic and bi-allelic variants in the same gene cause either similar or distinct syndromes. We were able to identify the molecular etiology in nine out of 20 families who underwent reanalysis. In summary, our data from family-based ES further delineate the molecular etiology of arthrogryposis, yielded several candidate disease-associated genes, and provide evidence for mutational burden in a biological pathway or network. Our study also highlights the importance of reanalysis of individuals with unsolved diagnoses in conjunction with sequencing extended family members.

Acute traumatic pure elbow dislocation in childhood is a very rarely seen emergency that can be treated safely with closed reduction combined long-arm plaster splinting and physical rehabilitation.

Single-stage deformity correction, ulnar lengthening and radial head reduction technique that we have used provide satisfactory functional and cosmetic results. Early surgical correction may lead to even better results.

BACKGROUND: In this study, we aimed to compare the functional and radiological results of intramedullary nailing and plate fixation techniques in the surgical treatment of distal tibia diaphyseal fractures close to the ankle joint.

Cementless total hip arthroplasty with restoration of the anatomic hip centre resulted in satisfactory clinical outcomes in patients with secondary coxarthrosis due to Crowe type IV developmental dysplasia of the hip joint.

Background Treatment of hip instability in patients with lower lumbar level myelomeningocele is clinically challenging. Muscle transfer procedures, release of contractures, and intertrochanteric varus-rotation osteotomies have been described to restore weak or absent abductor strength as well as relocation of the hip. However, controlled trials evaluating hip instability in lower lumbar myelomeningocele are limited in the current literature. Questions/purposes The purposes of this study were to compare the (1) radiographic evidence for joint stability; (2) clinical outcomes (including abductor strength, ambulatory ability, and residual use of orthoses); and (3) complications between patients undergoing combined periarticular contracture releases and bony procedures with and without external oblique abdominal muscle transfers. Methods Between 2004 and 2013, 14 pediatric patients (16 hips) were treated for hip instability secondary to myelomeningocele using releases with or without muscle transfer. From those, 13 patients (15 hips) with a mean age of 6 years who had L3 to L5 level involvement were evaluated retrospectively. The patients were separated into two groups. Nine hips (in eight patients) were treated by performing a combination of external oblique abdominal muscle transfer to the greater trochanter, periarticular release of contractures, and bony procedures. These were compared with six hips (five patients) treated by performing a combination of periarticular release of contractures and bony procedures without external oblique abdominal muscle transfer. This study compared the results between two surgeons, one of whom always performed these muscle transfers in this setting and the other who never performed muscle transfer during the study period. The patients were clinically followed up at a mean of 41 months (range, 14-122 months); none of the patients was lost to followup. Radiographic evaluation criteria included Reimer's migration index, acetabular index, femoral neck-shaft angle, pelvic obliquity, and the presence of scoliosis. Clinical evaluation included muscle strength examination, periarticular contractures, necessity for using orthoses as walking aids, and Hoffer criteria of mobility. All complications were also noted from a chart review. Results There were no differences between the two groups regarding postoperative femoral head localization, reflecting the presence or absence of residual subluxation, according to Reimer's index (Reimer's index = 32%; range, 10%-40%, in the muscle transfer group compared Each author certifies that he or she, or a member of his or her immediate family, has no funding or commercial associations (eg, consultancies, stock ownership, equity interest, patent/licensing arrangements, etc) that might pose a conflict of interest in connection with the submitted article. All ICMJE Conflict of Interest Forms for authors and Clinical Orthopaedics and Related Research 1 editors and board members are on file with the publication and can be viewed on request. Each au...

Background and purpose — The value of arthroscopic surgical reduction in developmental hip dysplasia is poorly known. We compared the clinical and radiographic efficacy of arthroscopic and medial open surgical reduction in patients less than 18 months of age with developmental hip dysplasia. Patients and methods — 54 patients with a mean age of 11 months who were treated by Ludloff’s medial open reduction technique (28 hips, Group L) or arthroscopic surgical reduction technique (26 hips, Group A) were evaluated in this case series. Data on age, sex, preoperative Tönnis grade, operative time, estimated blood loss, residual leg length discrepancy, range of motion (ROM), acetabular index (AI) angle, coverage ratio of the femoral head, continuity of Menard–Shenton line, re-dislocation rate, McKay classification, and Kalamchi–MacEwen avascular necrosis (AVN) classification were collected. Results — Preoperatively, the mean AI angle was 39° in Group L and 37° in Group A. At the latest follow-up, the mean AI was 26° in both groups. The mean femoral head coverage ratio was 79% in Group L and 80% in Group A. The Menard–Shenton line was intact in all patients. Residual leg length discrepancy or limited ROM was not detected in any patients. 4 patients in Group L and 2 in Group A were diagnosed with type 2 AVN. Interpretation — Arthroscopic surgical reduction in patients aged 6–18 months revealed promising clinical and radiographic outcomes similar to medial open reduction using Ludloff’s technique.