Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.

Stuve-Wiedemann syndrome (SWS; MIM 601559) is a rare autosomal recessive disease caused by mutations in the leukemia inhibitor factor receptor gene (LIFR). Common clinical and radiological findings are often observed, and high neonatal mortality occurs due to respiratory distress and hyperthermic episodes. Despite initially considered as a lethal disorder during the newborn period, in recent years, several SWS childhood survivors have been reported. We report a detailed clinical and radiological characterization of four unrelated childhood SWS molecularly confirmed patients and review 22 previously reported childhood surviving cases. We contribute to the definition of the childhood survival phenotype of SWS, emphasizing the evolving phenotype, characterized by skeletal abnormalities with typical radiological findings, distinctive dysmorphic features, and dysautonomia. Based on the typical features and clinical course, early diagnosis is possible and crucial to plan appropriate management and prevent potential complications. Genetic confirmation is advisable in order to improve genetic counseling to the patients and their families.

Limiting spread of COVID-19 in an orthopaedic department-a perspective from Spain.

Besides national and international recommendations, orthopaedic departments face significant changes in daily activity and serious issues to maintain their standards in musculoskeletal care during the pandemic Covid-19 crisis that we are facing. This report retrospectively addresses measures that were progressively put in place to modify in a week time the activity of a busy orthopaedic department in a large tertiary university hospital in face of the pandemic. Surgical priorities and surgical outcomes are key aspects to consider. The experience may offer some insight to areas where the spread of the disease may be slower or delayed. Abrupt stop of scheduled surgery and clinics is useful to adapt an orthopaedic department to the overall hospital resource reorganization. Orthopaedic surgeons need to be aware of the risks to patients and personnel in view of underdiagnosed cases, which make pre-operative Covid-19 evaluation mandatory for all surgical cases.

Developmental dysplasia of the hip: update of management.

The term 'developmental dysplasia of the hip' (DDH) includes a wide spectrum of hip alterations: neonatal instability; acetabular dysplasia; hip subluxation; and true dislocation of the hip.DDH alters hip biomechanics, overloading the articular cartilage and leading to early osteoarthritis. DDH is the main cause of total hip replacement in young people (about 21% to 29%).Development of the acetabular cavity is determined by the presence of a concentrically reduced femoral head. Hip subluxation or dislocation in a child will cause an inadequate development of the acetabulum during the remaining growth.Clinical screening (instability manoeuvres) should be done universally as a part of the physical examination of the newborn. After two or three months of life, limited hip abduction is the most important clinical sign.Selective ultrasound screening should be performed in any child with abnormal physical examination or in those with high-risk factors (breech presentation and positive family history). Universal ultrasound screening has not demonstrated its utility in diminishing the incidence of late dysplasia.Almost 90% of patients with mild hip instability at birth are resolved spontaneously within the first eight weeks and 96% of pathologic changes observed in echography are resolved spontaneously within the first six weeks of life. However, an Ortolani-positive hip requires immediate treatment.When the hip is dislocated or subluxated, a concentric and stable reduction without forceful abduction needs to be obtained by closed or open means. Pavlik harness is usually the first line of treatment under the age of six months.Hip arthrogram is useful for guiding the decision of performing a closed or open reduction when needed.Acetabular dysplasia improves in the majority due to the stimulus provoked by hip reduction. The best parameter to predict persistent acetabular dysplasia at maturity is the evolution of the acetabular index.Pelvic or femoral osteotomies should be performed when residual acetabular dysplasia is present or in older children when a spontaneous correction after hip reduction is not expected.Avascular necrosis is the most serious complication and is related to: an excessive abduction of the hip; a force closed reduction when obstacles for reduction are present; a maintained dislocated hip within the harness or spica cast; and a surgical open reduction. Cite this article: EFORT Open Rev 2019;4:548-556. DOI: 10.1302/2058-5241.4.180019.

Management of supracondylar fractures of the humerus in children.

Supracondylar fractures of the humerus are the most frequent fractures of the paediatric elbow, with a peak incidence at the ages of five to eight years.Extension-type fractures represent 97% to 99% of cases. Posteromedial displacement of the distal fragment is the most frequent; however, the radial and median nerves are equally affected. Flexion-type fractures are more commonly associated with ulnar nerve injuries.Concomitant upper-limb fractures should always be excluded. To manage the vascular status, distal pulse and hand perfusion should be monitored. Compartment syndrome should always be borne in mind, especially when skin puckering, severe ecchymosis/swelling, vascular alterations or concomitant forearm fractures are present.Gartland's classification shows high intra- and inter-observer reliability. Type I is treated with casting. Surgical treatment is the standard for almost all displaced fractures. Type IV fractures can only be diagnosed intra-operatively.Closed reduction and percutaneous pinning is the gold standard surgical treatment. Open reduction via the anterior approach is indicated for open fractures, absence of the distal vascular flow for > 10 to 15 minutes after closed reduction, and failed closed reduction.Lateral entry pins provide stable fixation, avoiding the risk of iatrogenic ulnar nerve injury.About 10% to 20% of displaced supracondylar fractures present with alterations in vascular status. In most cases, fracture reduction restores perfusion.Neural injuries occur in 6.5% to 19% of cases involving displaced fractures. Most of them are neurapraxias and it is not routinely indicated to explore the nerve surgically. Cite this article: EFORT Open Rev 2018;3:526-540. DOI: 10.1302/2058-5241.3.170049.

Lesión fisaria neuropática, diagnóstico diferencial con osteomielitis / Neuropathic physeal injury: Differential diagnosis with osteomyelitis

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Natural history of unreduced Gartland type-II supracondylar fractures of the humerus in children: a two to thirteen-year follow-up study.

BACKGROUND: The preferred treatment of type-II supracondylar humeral fractures remains controversial. The purpose of this study was to evaluate the long-term clinical and radiographic outcome of type-II supracondylar humeral fractures in children treated with immobilization in a splint without reduction. METHODS: The medical records of forty-six consecutive patients who sustained a supracondylar Gartland type-II fracture of the humerus treated with immobilization in a splint were reviewed. Age at the time of fracture, sex, side involved, dominant extremity, duration of immobilization, and complications were recorded. Radiographic assessment included the Baumann angle, carrying angle, and lateral humerocapitellar angle. Patients returned for clinical evaluation, and the Mayo Elbow Performance Score and the criteria of Flynn et al. were recorded. Patients completed the QuickDASH, an abbreviated form of the Disabilities of the Arm, Shoulder and Hand questionnaire, to measure disability. RESULTS: The average age (and standard deviation) at the time of fracture was 5.5 ± 2.6 years. The average duration of follow-up was 6.6 ± 2.8 years. The initial lateral humerocapitellar angle was a mean of 12.8° ± 9.8°, the mean Baumann angle was 12° ± 5.7°, and the mean radiographic carrying angle was 9° ± 11.3°. There were significant differences between injured and uninjured elbows at the time of follow-up with regard to flexion (mean, 137.9° ± 9.1° for injured and 144.8° ± 7.1° for uninjured elbows; p < 0.001), extension (mean, 13.2° ± 5.9° for injured and 7.4° ± 5.1° for uninjured elbows; p < 0.001), clinical carrying angle (mean, 9° ± 8.1° for injured and 12.1° ± 4.9° for uninjured elbows; p = 0.003), radiographic carrying angle (mean, 8.9° ± 8.1° for injured and 14.2° ± 5.5° for uninjured elbows; p < 0.001), and lateral humerocapitellar angle (mean, 30.5° ± 11° for injured and 41.9° ± 9.9° for uninjured elbows; p < 0.001). The mean score was 10 ± 15.3 points for the QuickDASH questionnaire, 4.7 ± 12.2 points for the QuickDASH-sports questionnaire, and 95.6 ± 10.5 for the Mayo Elbow Performance Score. According to the Flynn criteria, results were satisfactory in 80.4% of the patients. CONCLUSIONS: Patients with a type-II supracondylar fracture of the humerus treated conservatively had a mild cubitus varus deformity and a mild increase in elbow extension, although functional results were excellent in the majority of patients.

Imaging on pelvic pyomyositis in children related to pathogenesis.

PURPOSE: Pelvic pyomyositis in children is a rare infectious condition, although it is increasingly reported in temperate climates. Often considered a primary disease, new diagnostic methods are able to identify additional foci of infection. The purpose of this study is to review our patients and to analyze the imaging studies to determine its pathogenesis. METHODS: A retrospective study of the clinical charts and imaging records of 11 patients was made, noting the number and location of muscles involved, as well as bone and joint involvement. RESULTS: Besides the classical form of pelvic pyomyositis, i.e., iliopsoas pyomyositis, other muscular groups were frequently affected, often with multiple involvement. Bone involvement is also frequent. Magnetic resonance imaging (MRI) gives the most useful information. CONCLUSION: MRI is the diagnostic procedure of choice for diagnosing pelvic pyomyositis in children. It may also have an elucidating role in the debated pathogenesis of this condition. In most of the cases, pelvic pyomyositis in children could be secondary.

Legg-perthes disease and heritable thrombophilia.

The etiology of Perthes' disease is unclear. Recent reports have suggested that inheritable thrombophilic disorders may be one of its pathogenetic causes. The G20210A prothrombin gene, factor V Leiden, and MTHFR C677T mutations have been identified as predisposing genetic factors for thrombosis. Ninety children diagnosed with Perthes' disease were studied. A family history of thrombosis and any other personal thromboembolic events were researched. PCR and endonuclease digestion were used to analyze factor V Leiden, prothrombin G20210A, and MTHFR C677T. Two hundred healthy donors were included as a control group. No patient had a family or personal history of early thrombotic events. Four children with Perthes' disease (4.4%) were heterozygous for G20210A polymorphism compared with controls (odds ratio: 2.07; 95% confidence interval: 0.40-8.46). No association between factor V Leiden and Perthes' disease was observed. Three patients (3.33%) were heterozygous for factor V Leiden (odds ratio: 1.36; 95% confidence interval: 0.32-5.84). The prevalence of different genotypes of C677T MTHFR did not show statistical differences compared with controls. Eleven patients were homozygous for this polymorphism (odds ratio: 1.02; 95% confidence interval: 0.42-2.44). This study does not support the screening of this group of polymorphism in patients with Perthes' disease.

Painful spastic hip dislocation: proximal femoral resection.

The dislocated hip in a non-ambulatory child with spastic paresis tends to be a painful interference to sleep, sitting upright, and perineal care. Proximal femoral resection-interposition arthroplasty is one method of treatment for this condition. We reviewed eight hips, two bilateral cases, with a mean follow-up of 30 months. Clinical improvement was observed in all except one case, with respect to pain relief and sitting tolerance. Some proximal migration was observed in three cases, despite routine post-operative skeletal traction in all cases and careful soft tissue interposition. One case showed significant heterotopic ossification which restricted prolonged sitting. This patient needed some occasional medication for pain.