Novel prosthesis with proximity sensor for upper extremity phocomelia.

We herein report on the application of a novel motorized prosthetic hand in a child with upper extremity phocomelia.

Patient-reported function, quality of life and prosthesis wear in adults born with one hand: a national cohort study.

We invited individuals aged above 16 years with a congenital transverse reduction deficiency at and above the wrist born in Norway between 1970 and 2006 to complete the short version of the Disabilities of the Arm, Shoulder and Hand Outcome Measure, the 5-Level EuroQoL-5-Dimension instrument, the RAND 36-Item Short Form Health Survey and a single-item questionnaire on arm function, appearance, pain and prosthesis wear. Of 154 eligible participants, 58 (38%) responded. Their scores were not different from the general population. All had been offered prostheses, and 56 (97%) had been fitted at a median age of 1 year (interquartile range 0-2.8). Of the participants, 37 (64%) were still prosthesis wearers, while 21 (36%) were non-wearers or using gripping devices only. Prosthesis wearers had higher levels of 'vitality' as assessed by the RAND-36 and rated their arm appearance higher, but there were no other score differences, indicating that prosthesis rejection is not associated with worse functional outcomes.Level of evidence: III.

Two-stage treatment of extremity deformities associated with thrombocytopenia-absent radius syndrome.

OBJECTIVE: The aim of this study was to evaluate the results of 2-stage treatment of upper and lower extremity deformities in patients with thrombocytopenia absent radius syndrome. METHODS: Four patients (3 female, 1 male) with a mean age of 1.8 years (range 1-4) were included in the study. The patients were followed up for an average of 5.5 years. All 4 patients had bilateral radial longitudinal deficiency, whereas only 2 patients had bilateral fixed knee contractures. A 2-stage surgical procedure was implemented. The surgical procedure performed for radial longitudinal deficiency consisted of distraction with an Ilizarov frame in the first stage, followed by centralization performed in the second stage. Knee contractures were first treated using an Ilizarov frame, followed by a hamstring tendon transfer in the second procedure. Radiological evaluation of the radial longitudinal deficiency was done by measuring hand-forearm angle, hand-forearm position, and ulnar bowing preoperatively and at postoperative follow-ups. Knee contracture was evaluated by measuring the angle preoperatively and at postoperative follow-ups. RESULTS: The mean hand-forearm angle values of patients at preoperative assessment, early postoperative period, and at the last follow-ups were 82.60, 5,80, and 11.10, respectively (P < .001). The hand-forearm position values were -14.25 mm, +11, and +7.1 mm, respectively (P < .001). The ulnar bowing values were 7.3°, 4.5°, and 2.9°, respectively (P < .001). Recurrence of the radial longitudinal deficiency deformity requiring surgery occurred in 1 patient. In the other 3 patients, some deformity recurred but did not require surgical intervention. In addition, 1 patient with knee flexion contracture had a recurrence of the contracture that did not require surgical intervention. There was no circulatory disorder or skin necrosis in the lower or upper extremities of the patients. CONCLUSION: This study has shown us that two-stage treatment is a reliable method for lower and upper extremity deformities accompanying thrombocytopenia absent radius syndrome. However, recurrence is still a major problem. LEVEL OF EVIDENCE: Level IV, Therapeutic Study.

Treatment of Mild Ulnar Longitudinal Deficiency with a Z-Shaped Ulna Lengthening Osteotomy: A Report of 2 Cases.

CASE: Two adolescent patients with therapy-refractory ulnocarpal wrist pain because of mild ulnar longitudinal deficiency (ULD; ulna hypoplasia type I according to Bayne) underwent surgical treatment with a Z-shaped ulna lengthening osteotomy and interposition of the iliac crest bone graft. Long-term ULD correction and pain-free motion were maintained in both patients. CONCLUSION: Pediatric patients with symptomatic mild ULD are often mistaken for ulnar negative variance with radioulnar impingement and may be successfully treated using this newly described technique. The ulnar malangulation is corrected at the apex of the deformity, and the clinical and radiographic outcomes have been successful.

Randomized Trial Comparing Preliminary Results of Radialization and Centralization Procedures in Bayne Types 3 and 4 Radial Longitudinal Deficiency.

BACKGROUND: The choice of surgical procedure in severe (Bayne and Klug types 3 and 4) radial longitudinal deficiency (RLD) is contentious. Existing studies have reported varying results with both centralization and radialization procedures. The purpose of this study was to compare the clinical and radiologic outcome of radialization and centralization procedures at a short-to-intermediate-term follow-up for the treatment of types 3 and 4 RLD. METHODS: Fourteen patients with 17 affected limbs having types 3 or 4 RLD were recruited in this prospective, randomized, controlled trial. After initial application of successive casts for soft tissue distraction, patients were randomized to 2 wrist alignment procedures-centralization and radialization. Clinical and radiologic parameters recorded at stipulated intervals until a final follow-up of 24 months included hand-forearm angle, ulnar bow, forearm length, arm length, total angulation, and range of motion at elbow, wrist, and fingers. RESULTS: Centralization was performed in 9 affected limbs, whereas radialization was performed in 8 affected limbs. Nine affected limbs had type 4 RLD, and 8 affected limbs had type 3 RLD. There was no significant difference in the hand-forearm angle in the immediate postoperative period. At 3 months, the radiologic hand-forearm angle increased to 19 degrees in the centralization group, while the radialization group showed an average increase to 4 degrees. This increase in the hand-forearm angle continued at 6-, 12-, and 24-month follow-up assessments. Worsening of the deformity was more in the centralization group, as compared with the radialization group. The forearm length also significantly differed in the 2 groups at 6-, 12-, and 24-month follow-up; however, when adjusted for preoperative lengths, the difference was significant only at 12- and 24-month follow-up. CONCLUSIONS: At a short-to-intermediate-term follow-up, radialization fares better than centralization in terms of recurrence of deformity and in terms of affecting the forearm length. Longer follow-up with a larger sample size is needed to draw definitive conclusions. LEVEL OF EVIDENCE: Level I.

Congenital Forearm Pseudarthrosis, a Systematic Review for a Treatment Algorithm on a Rare Condition.

BACKGROUND: A congenital forearm pseudarthrosis is a rare condition and is strongly associated with neurofibromatosis type 1. Several surgical techniques are described in the literature, but the most optimal treatment strategy remains unclear. This systematic review aims to develop a treatment algorithm that may aid in clinical decision making. METHODS: The PROSPERO registration number for this study was CRD42018099602 and adheres to the PRISMA guidelines for systematic reviews. Embase, MEDLINE, Cochrane Central, Web of Science, and Google Scholar databases were searched for published studies reporting on congenital forearm pseudarthrosis not related to other underlying pathologies like bacterial infection or fibrous dysplasia. Results were not restricted by date or study type, only English literature was allowed. Studies were assessed for quality using the critical appraisal checklist for case reports from the Joanna Briggs Institute. Patient characteristics, underlying disease, type of surgery, union rate, and functional outcome were extracted from included studies. RESULTS: Of 829 studies identified, 47 were included in this review (17 case series and 30 case reports, a total of 84 cases). A one-bone forearm procedure showed highest union rates (92%), however, it results in loss of forearm rotation. Free vascularized fibula grafting showed high union rates (87%) and was related to good functional outcome of elbow flexion and forearm rotations. Other procedures showed disappointing outcomes. CONCLUSIONS: Congenital forearm pseudarthrosis is best treated with a free vascularized fibula grafting, a one-bone forearm procedure should be used as a salvage procedure. Evidence extracted from the case reports was sufficient to generate a treatment algorithm to be used in clinical pediatric practice. LEVEL OF EVIDENCE: Level IV-therapeutic.

Teaching Hand Surgery in the Developing World: Utilizing Educational Resources in Global Health.

The development of surgical capacity in the developing world is essential to address the global burden of surgical disease. Training local surgeons in low-income and middle-income countries is critical in this endeavor. The challenges to teaching hand surgery in the developing world include a shortage of local faculty, absence of a defined curriculum, no competency-based evaluation systems, few subspecialty training opportunities, and lack of financial support. To teach hand surgery in the developing world effectively, the authors suggest principles and components of a global training curriculum.

Treatment of Common Congenital Hand Conditions.

Congenital hand difference is caused by abnormal embryonic development of the limb and represents one of the most prevalent congenital birth defects worldwide. Using the new classification system proposed by Oberg, Manske and Tonkin (OMT) and endorsed by the International Federation of Societies for Surgery of the Hand, congenital hand differences are classified into malformations, deformations, and dysplasias and syndromes. Malformations are subdivided into abnormal development of proximal-distal, radial-ulnar (anterior-posterior), dorsal-ventral, and unspecified axis. We introduce here the state-of-the-art surgical treatment for thumb duplication and syndactyly. The surgical principle, timing, procedures, and postsurgical management are described for each condition.

Radial longitudinal deficiency. Analysis of clinical and radiological results. / Deficiencia radial longitudinal. Análisis de resultados clínicos y radiológicos.

INTRODUCTION: radial longitudinal deficiency (RLD) includes bone, musculotendinous and neurovascular abnormalities of multifactorial aetiology of the radial side of the upper extremity. Treatment includes improving the length of the limb, the appearance and functioning of the hand. The aim of this study was to present our experience in a series of patients attended over the past 15 years and to describe the clinical and radiological results. METHODOLOGY: a retrospective study of patients with RLD between 2000 and 2016. Variables were analyzed and age associations were identified at the time of surgery, sex, laterality, type of deformity according to the modified Bayne-Klug classification, surgical technique, physis damage, associated diseases, functional and radiological results. RESULTS: 47 cases of 65 met the inclusion criteria. The average age of surgery was 19 months, 61% female. According to classification 60% were type IV, type III 19%, type 0 in 17% and type I in 4%. The intervention was centralization 72.3%, radialization 8.5% and one case of lengthening. Ulna osteotomy was performed in 55.3%. There was damage to the physis in 31%. The postoperative radiological position was neutral in 48.9%. CONCLUSIONS: In patients with centralization at 1year, good clinical and radiological correction were observed, however this was lost over time. The management of soft tissues prior to centralization is believed to give better results. The use of intramedullary nail from the ulna to the carpus could be associated with damage to the distal ulna.

Outcomes of radialization for radial longitudinal deficiency: 20 limbs with minimum 5-year follow-up.

We report functional and cosmetic outcomes in 14 patients (six bilateral and eight unilateral) with type IV radial longitudinal deficiency who underwent radialization. Follow-up ranged from 5 to 19 years. Outcome measures were grip and pinch strengths, Percival and Sykes score, Vilkki score, Cattaneo grading, and a questionnaire to patients. Radiological assessment included the hand-forearm angle, the hand-forearm position, and ulna length and width. At final follow-up, the length of the affected ulna was 56% of the length of the normal ulna. The distal ulna hypertrophied to 97% of the opposite distal radius and a median loss of correction of hand-forearm angle was 9°. All hands improved on Vilkki severity grade and on the Cattaneo functional and aesthetic grading. We conclude that radialization is an effective procedure in these cases, but secondary procedures may be required for the long-term maintenance of wrist alignment and hand function. Level of evidence: IV.

Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review.

INTRODUCTION: Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. Sequence alteration of TBX5 gene located on chromosome 12 has associated with HOS. CASE REPORT: We present the case of a 26-year-old female with known upper limb alteration and ventricular septal defect who later in life developed Crohn's disease. CONCLUSION: To the best of our knowledge association of Holt-Oram syndrome with Crohn's disease has not been reported in literature before. Therefore, a possible genetic connection between Holt-Oram syndrome and Crohn's disease remains to be determined.

Congenital limb deficiency in Japan: a cross-sectional nationwide survey on its epidemiology.

BACKGROUND: Congenital limb deficiency is a rare and intractable disease, which impairs both function and appearance of the limbs. To establish adequate medical care, it is necessary to reveal the actual conditions and problems associated with this disease. However, there have been no extensive epidemiological surveys in Japan addressing this disease. This is the first nationwide epidemiological survey of congenital limb deficiency in this country. METHODS: With the cooperation of epidemiology experts, we performed a two-stage nationwide survey to estimate the number of patients with congenital limb deficiency and reveal basic patient features. We targeted orthopaedic surgery, paediatric, and plastic surgery departments. Hospitals were categorized according to the institution type and the number of hospital beds; hospitals were randomly selected from these categories. We selected 2283 departments from a total 7825 departments throughout Japan. In this study, we defined congenital limb deficiency as partial or total absence of the limbs, proximal to the proximal interphalangeal joint of the fingers/lesser toes or interphalangeal joint of the thumb/great toe. We distributed the first survey querying the number of initial patient visits from January 2014 to December 2015. Targets of the second survey were departments that reported one or more initial patient visits in the first survey. RESULTS: In the first survey, 1767 departments responded (response rate: 77.4%). Among them, 161 departments reported one or more initial patient visits. We conducted the second survey among these 161 departments, of which 96 departments responded (response rate: 59.6%). The estimated number of initial visits by patients with congenital limb deficiency was 417 (95% confidence interval: 339-495) per year in 2014 and 2015. The estimated prevalence of congenital limb deficiency in Japan was 4.15 (95% confidence interval: 3.37-4.93) per 10,000 live births. The sex ratio was 1.40. Upper limbs were more affected than lower limbs. CONCLUSIONS: We revealed the estimated number of initial patient visits per year and birth prevalence of congenital limb deficiency in Japan. Our results will contribute to establishing the disease concept and grades of severity of congenital limb deficiency.

Upper limb congenital muscular hypertrophy and aberrant muscle syndrome in children.

Congenital muscle hypertrophy of the upper limb is a very rare condition with unknown aetiology. This descriptive observational and retrospective series included eight children followed by a multidisciplinary team from 2005 to 2017. The diagnosis was based on a cluster of clinical and radiological characteristics after elimination of differential diagnoses. Patients were categorized according to: anomalies of the wrist, anomalies of long fingers of intrinsic or extrinsic origin; and anomalies of the thumb with or without first web space contracture. Treatment begins in young children with hand orthoses to limit muscle contraction and joint malposition. The purpose of surgical treatment was to release contractures and to restore muscle balance through, in the main, finger intrinsic releases and first web releases. At the 2-year follow-up, we found that limited surgical procedures improved finger, thumb and wrist positions. We conclude that muscle hypertrophy is the main cause of deformity and that selective releases of contracted musculo-tendinous units and skin lengthening are effective. LEVEL OF EVIDENCE: IV.

Soft-Tissue Distraction Prior to Single Bone Forearm Surgery in Ulnar Longitudinal Deficiency: A Report of Two Cases.

Ulnar longitudinal deficiency (ULD) is a rare congenital disease of the upper limb. The deformities caused by ULD can be very challenging and may compromise hand function during daily activities. Although the first surgical intervention dates back to the year 1952 there is still no gold standard for treating this uncommon disorder. Two children aged 16 and 3 years with ULD Bayne Type II (partial ulna aplasia) were diagnosed and treated at our department with single bone forearm surgery to achieve stability and improve function using a modified surgical method. For the purpose of an additional gain in limb length and improved cosmesis we used an Ilizarov external fixator for soft tissue distraction including radius distalization prior to the creation of the single bone forearm. This new technique and results are presented and discussed.

Upper Limb Dimelia.

A patient with upper limb dimelia including a double scapula, humerus, radius, and ulna, 11 metacarpals and digits (5 on the superior side, 6 on the inferior side) was treated with a simple amputation of the inferior limb resulting in cosmetic improvement and maintenance of range of motion in the preserved limb. During the amputation, the 2 limbs were found to be anatomically separate except for the ulnar nerve, which, in the superior limb, bifurcated into the sensory branch of radial nerve in the inferior limb, and the brachial artery, which bifurcated into the radial artery. Each case of this rare anomaly requires its own individually carefully planned surgical procedure.

Holt-Oram syndrome: Anesthetic challenges and safe outcome.

Holt-Oram syndrome (HOS) is an autosomal dominant disease with skeletal and cardiac manifestations. We here are presenting a 31-year-old man and a diagnosed case of HOS, with an ulceroproliferative lesion on lateral border of the tongue, was posted for wide excision of lesion with primary closure and left side radical neck dissection.

[Accurate osteotomy assisted by individualized navigation templates for the treatment of children cubitus varus].

OBJECTIVE: To investigate the feasibility and accuracy of a new navigation template for osteotomy in cubitus varus based on computer assistant design and 3D printing technology. METHODS: The preoperative CT images of 15 children with cubitus varus from June 2015 to June 2016 were collected. According to the above data, the individual osteotomy navigate template match the distal humerus was designed by the software and printed by the 3D printer. Accurate osteotomy was performed with the assistant of the navigate template in the operation. Internal fixation of the osteotomy site was performed with 2 Kirschner wires. After surgery, a long arm plaster was applied with 20° of elbow flexion. All the patients underwent radiographic and clinical evaluations before surgery and at the follow-up examination. RESULTS: During the operation, the navigate template with the individual design of 3D printing technology matched the bony markers of distal humerus. Accurate and simple osteotomy were performed along the resected surface of the navigation template. None of the cases required any kinds of revision surgery or had any complaint of cosmetic appearance. Average union time was 6.7 weeks(ranged, 6 to 8 weeks). Twelve patients got an excellent result and 2 got a good result according to the criteria described by Bellemore. There were no cases with complications of infection or ulnar nerve palsy or joint stiffness. CONCLUSIONS: With the help of 3D printing technology, the accurate osteotomy in cubitus varus assisted by individualized navigate template can be realized. This technology can restore normal anatomical structure of the elbow joint to the greatest extent. It is worthy of popularization and application.

A Graphic Overlay Method for Selection of Osteotomy Site in Chronic Radial Head Dislocation: An Evaluation of 3D-printed Bone Models.

PURPOSE: Three-dimensional (3D) computed tomography imaging is now being used to generate 3D models for planning orthopaedic surgery, but the process remains time consuming and expensive. For chronic radial head dislocation, we have designed a graphic overlay approach that employs selected 3D computer images and widely available software to simplify the process of osteotomy site selection. METHODS: We studied 5 patients (2 traumatic and 3 congenital) with unilateral radial head dislocation. These patients were treated with surgery based on traditional radiographs, but they also had full sets of 3D CT imaging done both before and after their surgery: these 3D CT images form the basis for this study. From the 3D CT images, each patient generated 3 sets of 3D-printed bone models: 2 copies of the preoperative condition, and 1 copy of the postoperative condition. One set of the preoperative models was then actually osteotomized and fixed in the manner suggested by our graphic technique. Arcs of rotation of the 3 sets of 3D-printed bone models were then compared. RESULTS: Arcs of rotation of the 3 groups of bone models were significantly different, with the models osteotomized accordingly to our graphic technique having the widest arcs. CONCLUSIONS: For chronic radial head dislocation, our graphic overlay approach simplifies the selection of the osteotomy site(s). Three-dimensional-printed bone models suggest that this approach could improve range of motion of the forearm in actual surgical practice. LEVEL OF EVIDENCE: Level IV-therapeutic study.