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Background: Neonatal pyogenic tenosynovitis is a highly emergent soft tissue infection. We report a case of a neonate with pyogenic tendinopathy and tendon rupture diagnosed by ultrasonography (US). He subsequently developed pyogenic arthritis and osteomyelitis during antimicrobial therapy. Case presentation: A 7-day-old boy was admitted to our hospital with redness and swelling of the right index finger. US on admission showed rupture of the flexor tendon of the right index finger with inactivity. The day after admission, he developed pyogenic arthritis of the right elbow and, subsequently, pyogenic osteomyelitis. Staphylococcus aureus was identified through bacterial culture, and the patient was treated with intravenous antibiotics for 6 weeks. However, after discharge from our hospital, rupture of the flexor tendon of the left thumb was confirmed. A two-stage flexor tendinoplasty was completed at the age of 2 years and 1 month for the flexor tendon rupture on his right index finger. Conclusions: In addition to blood culture, ultrasonographic evaluation should be performed in neonates with erythematous and swollen joints to identify the focus of infection as soon as possible. Moreover, repeated regular US examination is important in the follow-up of bone and soft tissue infections.

In this study, we retrospectively reviewed our results of managing the clasped thumb deformity in arthrogryposis multiplex congenita patients with first web space deepening and abductor pollicis brevis (APB) rerouting. Twenty-six thumb deformities in 16 children with a mean age of 6.2 years were treated with a mean follow-up of 89.6 months. Following reconstruction with the Spinner flap, the mean angle of the first and second metacarpal axis (M1M2) showed significant improvement from 42° to 61° indicating a wider first web space, and the postoperative mean angle of the thumb proximal phalanx to its metacarpal axis (M1P1) was reduced from 41° to 18°, indicative of a straighter thumb. Following reconstruction with a double-opposing Z-plasty, the mean M1M2 and M1P1 also improved from 38° to 52° and 18° to 9°, respectively. Rerouting of the APB with first web deepening is an efficient and reproducible procedure in improving thumb position. Level of evidence III

Nondisplaced or slightly displaced lateral condyle fractures may subsequently displace if treated with cast immobilization alone, and displacement indicates surgery. In this context, placing the forehand in pronation is sometimes recommended, and the prediction of the late displacement based on the presence of the fat pad sign is useful. However, few studies have quantitatively shown the relationships between forearm position during immobilization and late displacement and between the presence of the fat pad sign and late displacement. We investigated the factors that may affect the late displacement and the features of the consequences during the late displacement.Between October 2003 and July 2020, we observed 62 patients (45 boys and 17 girls). We evaluated the correlation between the factors age, gender, the initial displacement, the presence of a fat pad sign, the flexion angle of the elbow, the forearm position (pronation or neutral), and the late displacement on day 7 after the injury, which means the difference between the displacement on day 0 and that on day 7 in the 62 cases with the minimal displacement. Moreover, of all 62 cases observed, we further investigated those 52 cases that had been treated conservatively for 3 weeks for any resultant effects. We used the Friedman test to evaluate the difference in the late displacement on each day. We acknowledged the P value.05 as significant.There was no significant correlation between each factor (age, sex, initial displacement, presence of the fat pad sign, flexion angle of the elbow, or forearm position) and displacement on day 7, whereas there was significant progressive displacement until day 7.The present study concluded that late displacement would happen until the 7 postoperative dates, regardless of the splint angle, the fat pad sign, the age, or the gender. Therefore, it is important to follow any case, even with mild-displaced lateral condylar humeral fractures, until day 7 because the late displacement might occur.

For the severely hypoplastic thumb, including floating thumb, it is difficult to acquire function while preserving the thumb. Pollicization using the index finger after removing the hypoplastic thumb is usually indicated for such cases. However, most parents of children undergoing surgery for deformed hands desire retaining the digit number, 1 thumb and 4 fingers. A floating thumb has a neurovascular band in its pedicle, and we can identify and divide the band with precision for preservation, although it seems impossible to retain it. For acquiring function while retaining the thumb, we developed carpometacarpal arthroplasty of the floating thumb. For the first stage, the fourth metatarsal head was transferred to the first metacarpal base, followed by third metatarsal half-slip transfer to the space of the excised fourth metatarsal head with the first web plasty using a dorsal sliding flap. Second stage surgery was performed ∼6 months after the first stage. For creating stable opponensplasty, the abductor digiti minimi tendon was anchored to the ulnar side of the metacarpophalangeal joint; for extension, extensor indicis proprius transfer to the hypoplastic extensor pollicis longus tendon was performed; for flexion, ring finger flexor digitorum superficialis transfer to the hypoplastic flexor pollicis longus tendon was performed. In general, the functional results were acceptable with a high degree of family satisfaction, although in some cases function was limited to simple object holding. We explain the surgical procedures to preserve the thumb while gaining function as well as appearance using high-quality illustrations, figures, and videos. This should be helpful for surgeons who want children with hypoplastic thumbs to have both 5 digits and reasonable functional ability.

Adult men are, on average, ∼13 cm taller than adult women. Although previous studies have suggested a significant contribution of sex chromosomal genes to sexual dimorphism in height, all attempts to identify a male-specific growth gene have failed. In the present study, we analyzed transcripts from cartilage tissues, and found that the expression of SHOX, a growth-promoting gene in the pseudoautosomal region on the X and Y chromosomes, was lower in females than in males. DNA methylation analyses showed that SHOX has some characteristics of genes subjected to X chromosome inactivation (XCI). These findings indicate that sex difference in human height is mainly ascribed to incomplete spreading of XCI on a pseudoautosomal gene. More importantly, RT-PCR of fibroblast clones revealed XCI-independent random clonal monoallelic expression of SHOX. We presume that during eutherian evolution, SHOX translocated from an autosome to the proto-sex chromosome without losing the epigenetic memory of random clonal monoallelic expression and subsequently underwent partial XCI. This study provides a novel model of epigenetic gene regulation leading to phenotypic diversity in humans.

Background: Lateral humeral condylar fractures often heal with some residual elbow deformity. However, details of angulation or tilting angle of the lateral condyle after the fracture have not been evaluated so far. Methods: Between 2008 and 2016, we followed up 80 mild fractures of the lateral humeral condyle for more than a year. Thirty fractures were treated by open reduction and internal fixation (ORIF) with Kirschner wires. Fifty cases were treated with a long arm splint for 3 weeks (Fig. 1). The average age of the patients at the time of the injury was 5.5 years. The humerus-elbow-wrist angle (HEWA), Baumann’s angle (BA), and tilting angle (TA) were measured on the radiographs. The active range of motion (ROM) was clinically assessed at unaffected and affected sides at the final follow-up. Results: No significant differences were detected between the sides about TA or ROM at the final follow-up. However, HEWA/ BA showed more significant loss of correction. There were significant differences in BA at the affected side between the ORIF and splint groups. Conclusions: Cubitus varus deformity after lateral humeral condylar fracture is not accompanied by a change in TA or ROM, unlike the deformity after supracondylar or distal epiphyseal fracture of the humerus (Fig. 2). Operative treatment to precisely correct and fix the lateral condylar fracture still retained some cubitus varus deformity, although it might lessen or prevent the deformity when compared to conservative treatment with a splint.

Radial club hand is a complex congenital abnormality of the radial or pre-axial border of the upper extremity. It has a wide range of phenotypes from hypoplasia of the thumb to complete absence of the radius and the first ray. Centralization with tendon transfer is a popular method for maintaining the correct position of radial club hand. On the other hand, various corrections were devised,e.g. radialization after distraction to emphasize the fact that the head of the ulna is positioned under the radial carpal bones and is no longer placed in a slot in the center of the carpus, microvascular epiphysis transfer, gradual correction using Ilizarov method, for Bayne Type III or Type IV. We should pay attention to the recurrence of radial deformity or circulatory impairment with the tension. Lunate excision or ulnar shortening can be selected for tension-free correction. Radialization can be indicated for avoiding the recurrence of radial flexion. However, we should pay attention of the radial protrusion of the ulnar head. For avoiding the recurrence of radial deformity or circulatory impairment, gradual correction using Ilizarov external fixation can be indicated, especially in the cases with severe radial deviation or with short forearm. In the mild cases, Bayne Type I or Type II, radius lengthening is accompanied by a soft-tissue distraction or release at the ulnar carpal joint with keeping wrist and forearm motion without producing growth plate damage.

We reviewed the outcomes of post-traumatic varus deformity treated with modified step-cut osteotomy in 19 patients (average age, 7.4 years; range, 4.3-16.8 years at time of surgery). The average follow-up period was 29.6 months. The mean range of motion was 15.0°/124.7° (extension/flexion) before surgery and 6.8°/132.6° at final follow-up. The humerus-elbow-wrist angle was -21.1° before surgery and 4.2° at final follow-up, with a loss of 4.4° from the value of the humerus-elbow-wrist angle after the surgery. Osteotomy was fixed with Kirschner wires, and, in five cases, chips of excised bone could be inserted to avoid elbow extension. However, in eight cases, usually concerning younger patients, the elbow was fixed in hyperextension higher than 5°. No patient developed postoperative infections or later complications. Only one patient had transient nerve palsy. The modified step-cut osteotomy can precisely and stably correct the varus deformity in the coronal plane, especially in patients under 10 years of age. To avoid radial nerve palsy, we recommend that the retractors be removed sometimes during the operation.

Summary Background In patients with congenital anomalies of the thumb, the metacarpophalangeal joint often undergoes radial deviation to compensate for a narrow first web space. In this study, we evaluated the relationship between the thumb and index finger in patients with arthrogryposis multiplex congenita (AMC), by measuring the thumb–index angle on radiographs taken while the patient held a styrene foam cone. Methods Investigation was carried out on nine patients (13 cases: four bilateral and five unilateral) with AMC. The average patient age was 4.4 years (range, 2.6–7.2 years). Overhead radiographs were obtained while the patient held a styrene foam cone. The radiographs were used to evaluate the apparent thumb–index web angle, the thumb to index finger metacarpal angle (1–2MCA), and the first metacarpophalangeal angle (1MPA). Results In the five unilateral cases, significant differences were seen on the affected versus unaffected sides in 1–2MCA and 1MPA. All 13 cases were treated surgically, and significant differences were observed between the groups before surgery and 2 years after surgery in the 1–2MCA and 1MPA. In addition, the mean postoperative 1MPA in the bilateral cases was significantly smaller compared with the unilateral cases. Conclusions This radiographic technique enabled us to evaluate the severity of the thumb–index web-space narrowing and the radial instability of the thumb metacarpophalangeal joint in patients with AMC. The bilateral cases tended to show better rehabilitative improvement compared with the unilateral ones, probably because the latter patients could use their unaffected hand.

Background: When examining children with congenital anomalies of the extremities, it is not uncommon for parents to ask about the possibility of similar anomalies occurring in their next child. However, the inheritance of the disease in many congenital anomalies of the extremities has never been elucidated. Methods: In the present study we reviewed cases of their occurrence in siblings that we encountered in our department, and we investigated their characteristics. Results: The results did not reveal any disease specificity, but a tendency for bilateral cases and male cases (cases in brothers) to be more common was observed. Conclusions: In recent years there have been reports of the discovery of causative genes in some congenital anomalies, but because cases of occurrence in siblings with no familial occurrence in the past are seen, there may be a variety of causative genes in many congenital anomalies. In the present study there were many male cases (cases in brothers) and many bilateral cases, and there appears to have been a strong possibility of familial occurrence in such cases, but there were also quite a few exceptions. It is necessary to bear the possibility of heredity in mind in every case and provide the parents with an explanation.

SHOX in the short arm pseudoautosomal region (PAR1) of sex chromosomes is one of the major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature and Léri-Weill dyschondrosteosis and is associated with the short stature of patients with Turner syndrome. The SHOX protein likely controls chondrocyte apoptosis by regulating multiple target genes including BNP, Fgfr3, Agc1, and Ctgf. SHOX haploinsufficiency frequently results from deletions and duplications in PAR1 involving SHOX exons and/or the cis-acting enhancers, while exonic point mutations account for a small percentage of cases. The clinical severity of SHOX haploinsufficiency reflects hormonal conditions rather than mutation types. Growth hormone treatment seems to be beneficial for cases with SHOX haploinsufficiency, although the long-term outcomes of this therapy require confirmation. Future challenges in SHOX research include elucidating its precise function in the developing limbs, identifying additional cis-acting enhancers, and determining optimal therapeutic strategies for patients.

Purpose The purpose of this study was to identify the variety of anatomical abnormalities of extrinsic tendons in type IIIA hypoplastic thumbs. Methods We reviewed 79 thumbs in 67 patients. Opponensplasty, stabilizing of the thumb metacarpophalangeal joint, and widening of the first web space were performed in all patients. At the time of surgery, we made detailed observations of the anatomical abnormalities of the extrinsic tendons of the thumb. Results Fifty thumbs (50 of 79; 63%) had an interconnection between the flexor pollicis longus (FPL) and the extensor pollicis longus (EPL) tendons. Twenty-six thumbs (26 of 79; 33%) had bifurcations (25 [32%] bifurcated from the FPL; 1 [1%] bifurcated from the EPL). There were 25 FPL abnormalities (4 [5%] complete absence; 8 [10%] proximal absence; 2 [3%] distal absence; 11 [14%] tendon hypoplasia) and 7 EPL abnormalities (2 [3%] proximal absence; 5 [6%] tendon hypoplasia). Conclusions Interconnections between the FPL and the EPL tendons and a duplicated FPL were observed frequently. Clinical relevance The present study investigates the detailed anatomy of the type IIIA hypoplastic thumbs. The data might help improve the design of surgical procedures.

Purpose Radial longitudinal deficiency (RLD) presents on a spectrum of severity and associated diagnoses. The literature is limited in describing patient presentation without comparative data between countries. In a study comparing 2 cohorts of patients, 1 in the United States and 1 in Japan, we hypothesized that there would be a similar presentation of forearm deficiency severity, thumb hypoplasia severity, and associated syndromes between the 2 cohorts. Methods Patients with RLD were identified via a comprehensive chart review at 2 pediatric hospital cohorts, 1 in the United States and 1 in Japan, capturing patients presenting over 15 years. We assessed RLD and thumb hypoplasia severity via a modified Bayne and Klug and modified Blauth classifications. The relationship between these 2 diagnoses and the presence of common medical conditions were evaluated and correlated. Results A total of 194 Japanese patients with 290 involved extremities were compared with 107 U.S. patients with 174 involved extremities. The U.S. cohort had a significantly more severe RLD, and a higher rate of bilaterality (63% vs 50%, respectively). A total of 131 Japanese patients (68%) and 41 U.S. patients (38%) had associated medical syndromes/associations, most frequently vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula and/or esophageal atresia, renal agenesis and dysplasia, and limb defects (VACTERL; 46 Japanese, 14 U.S.), Holt-Oram (44 Japanese, 5 U.S.), and thrombocytopenia absent radius syndrome (0 Japanese, 12 U.S.). Correlation analysis showed that increased RLD severity was associated with increased thumb hypoplasia severity in both groups, with 95% of modified Bayne and Klug III, IV, or V patients having severely affected thumbs (type IIIb, IV, or V). Conclusions The U.S. patients had a more severe RLD and a higher rate of bilaterality. Japanese patients had a higher incidence of associated syndromes and radial polydactyly. Both cohorts showed that increased forearm severity was associated with more severe thumb hypoplasia. Type of study/level of evidence Differential diagnosis/symptom prevalence study III.

Pachydermoperiostosis is a rare hereditary disease, which presents with the cutaneous manifestations of pachydermia and cutis verticis gyrata. Histological findings in pachydermia frequently include dermal edema, mucin deposition, elastic fiber degeneration, dermal fibrosis and adnexal hyperplasia. However, the severity of these findings varies between clinical reports, and a systematic multiple‐case clinicopathological correlative analysis has not been performed to date. In the present study, we reviewed the skin biopsy specimens obtained from the pachydermia of six pachydermoperiostosis patients. The severity of the characteristic histological features was semiquantitatively evaluated and correlated with the grade of pachydermia. Dermal edema, mucin deposition and elastic fiber degeneration were observed in all cases. Patients with severe pachydermia had sebaceous gland hyperplasia and fibrosis. These results suggest that the triad of mucin deposition, dermal edema and elastic fiber degeneration are found from very early stage pachydermia, and could be considered diagnostic findings. To ensure an earlier diagnosis of pachydermoperiostosis, a biopsy should be taken when a patient has grade 1 pachydermia to determine the presence of this histological triad.

Background Although a simple bone cyst carries the risk of pathological fractures, it rarely causes severe deformity. Here we report a case of severe femoral deformity after multiple pathological fractures due to simple bone cysts, and consider the reason for the progression of malunion despite multiple previous treatments. Finally, we propose a treatment option for malunion correction. Case presentation A 9-year, 7-month-old Japanese girl was referred to our facility with obvious deformity of her right femur, caused by multiple simple bone cyst-related pathological fractures. The deformity included bowing of approximately 90° and an internal rotation of 60° in the middle third of the femoral shaft. To correct this deformity, we excised the lesion, thus shortening the femur, then corrected the alignment and applied an Ilizarov fixator to extend the bone. At present, 3 years after surgery, the deformity has not recurred and our patient is living without any limitations in daily activities or regular exercise. Conclusions When a long bone is in a prolonged state of deformation, the deformity not only progresses as the bone grows, but the soft tissues remain unbalanced and treatment becomes increasingly difficult. To prevent increasing bone deformity and fragility, the deformity should be corrected as quickly as possible using intramedullary nailing or other fixation techniques. We believe that our shortening-distraction method is effective for the treatment of severe deformity with unbalanced soft tissues.

SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2-16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature in patients with SHOX deficiency is Madelung deformity, a cluster of anatomical changes in the wrist that can be attributed to premature epiphyseal fusion of the distal radius. Computed tomography of SHOX-deficient patients revealed a thin bone cortex and an enlarged total bone area at the diaphysis of the radius, while histopathological analyses showed a disrupted columnar arrangement of chondrocytes and an expanded hypertrophic layer of the growth plate. Recent studies have suggested that perturbed programmed cell death of hypertrophic chondrocytes may underlie the skeletal changes related to SHOX deficiency. Furthermore, the formation of an aberrant ligament tethering the lunate and radius has been implicated in the development of Madelung deformity. Blood estrogen levels and mutation types have been proposed as phenotypic determinants of SHOX deficiency, although other unknown factors may also affect clinical severity of this entity.

Background In the patient of the cloacal exstrophy, cloaca with local abdominal wall is disrupted and exposed inner surface of the bladder needs early closure. Pelvic osteotomies are required for severe cases whose bladder cannot be closed by the suture of soft tissue only. We developed a technique involving the gradual positioning of bone fragments using a light, Ilizarov external fixator. The usefulness of the technique was assessed. Methods We enrolled 3 patients with cloacal exstrophy and 1 with bladder exstrophy as a gradual transfer group and 6 patients who were treated by other osteotomies as a control group. The patients aged 6.7–8.4 months at the time of surgery were followed up for 4.0–8.6 years. An external fixator with carbon fiber half-rings was placed to internally rotate and anteriorly move the distal bone fragment over 2 weeks. Then, the bladder was closed. Computed tomography (CT) images were used to assess the pelvis form. Wound dehiscence and number of the surgeries after the osteotomies are also compared between the two groups. Results CT analysis of correction of the pelvic deformity achieved more and less decreasing its volumetric capacity in the gradual transfer group. No patients had wound dehiscence after the primary closure with pelvic osteotomy in the gradual transfer group but all had them in the control group. The mean number of the surgeries after the osteotomies were 2.25 in the gradual transfer group whereas 5.5 in the control group. Conclusions Sufficient closure of the abdominal wall and bladder was achieved in all cases in the gradual transfer group. The correction of pelvic bones were more with less decreasing of their pelvic capacities, no patients had wound dehiscence after the closure and there was an effect to decrease the number of the surgeries after the treatment by this method.

Background: Arthrogryposis is the general term given to conditions characterized by multiple joint contractures resulting in substantial disability most frequently involving a child. Early muscle transfer reconstructive surgery reliably restores elbow flexion. In the present study, we aimed to determine which preoperative condition is best able to restore elbow flexion in patients with arthrogryposis.Methods: We retrospectively reviewed five children (seven cases) who underwent elbow flexor reconstruction (Steindler flexorplasty, four cases; latissimus dorsi transfer, two cases; pectoralis major transfer, one case). Upper-extremity function was assessed on the basis of range of elbow extension and flexion and elbow flexor muscle power pre- and postoperatively.Results: The mean postoperative active flexion and extension range of motion was 82.1° (60° to 100°) and -15.0° (-40° to 0°) respectively. Mean postoperative elbow flexor muscle power was graded as a 3.4 (2 to 4) as measured with the Medical Research Council (MRC) scale. The preoperative passive elbow flexion angle was found to correlate with postoperative muscle power (MRC) (r = 0.830, p = 0.042) and postoperative active elbow flexion angle (r = 0.902, p = 0.027). Age at operation was not found to correlate with postoperative muscle power (MRC) (r = -0.063, p = 0.878) or active elbow flexion angle (r = -0.134, p = 0.743).Conclusions: We found a positive correlation between preoperative passive elbow flexion/range of elbow motion and postoperative results including active range of motion and transferred muscle power. Diminished preoperative elbow flexion appeared to correlate with having a poor outcome. The present results suggest that choosing another muscle, such as the gracilis, may be beneficial for muscle transfer in more severe cases of arthrogryposis.

ObjectiveTo further disseminate the nomenclature of chronic enteropathy associated with SLCO2A1 (CEAS), especially for physicians in China and Korea where the genetic feature of SLCO2A1 gene mutations related hypertrophic osteoarthropathy and pachydermia had been extensively studied. SLCO2A1 gene mutations related hypertrophic osteoarthropathy and pachydermia had been extensively studied.DesignA case report with literature review of SLCO2A1 gene mutations-related disorders.ResultsA 38-year-old Korean presented to a tertiary hospital with dizziness, abdominal pain and melena. He had a positive faecal occult blood test on initial workup. Oesophagogastroduodenal endoscopy (OGD), colonoscopy and CT scan were unremarkable and showed no obvious cause for his melena. Capsule endoscope and roentgen barium studies were performed, revealing an erythematous mucosa with ulcers in the jejunum and stenosis to the jejunal–ileal junction. Next-generation sequencing was then performed and discovered point mutations of SLCO2A1 gene’s seven exon (940+1 G>A) and 13 exon (1807 C>T) allele. This Korean patient with CEAS is the first documented case noted outside of the Japanese population.ConclusionCEAS is not uniquely found in Japanese individuals. There are lots of similarities between CEAS and primary hypertrophic osteoarthropathy, the two entity may just be the two sides of one same coin. International and multidisciplined efforts are required to further study this complicated disorder.

The purpose of this study was to describe the prevalence of total joint arthroplasty (TJA) in Japanese rheumatoid arthritis (RA) patients undergoing conventional drug treatment in a large observational cohort in Japan. A total of 5,177 RA patients were studied for the prevalence of TJA, who were enrolled in the NinJa database during the fiscal year of 2006. The cases of 2,695 RA patients with more than ten years of disease duration were extracted and subjected to further analysis. The prevalence of TJA increased in accordance with the disease duration, and the prevalence was markedly increased after ten years. Among the 2,695 patients with more than ten years of disease duration, 1,431 TJAs were performed in 645 (24.6%) patients. The patients with TJA had higher disease activity than those without TJA. In this cross-sectional study, TJAs were performed in approximately a quarter of the Japanese RA patients with more than ten years of disease duration. The result showed that patients with higher disease activity required TJA.

Congruity of the ulnohumeral joint, especially its anterior portion, is an important stabilizer of the elbow joint. We report on 3 patients in whom the insufficiency of the coronoid process, such as nonunion or a flattened trochlear notch, was associated with posterolateral rotatory instability of the elbow. In our opinion, addressing the anterior bony integrity of the ulnohumeral joint, in addition to the ligamentous stabilizer and mechanical axis, is essential to achieve stability in these circumstances. This issue is discussed with a review of the literature.

Radiohumeral stability to forced translation was experimentally analyzed in 8 osteocartilaginous joint preparations. The joints were dislocated in 8 centrifugal directions at 12 different combinations of joint flexion and rotation while a constant joint compression force of 23 N was applied. Stability was measured as the maximum resistance to translation. On average, the specimens could resist a transverse force of 16.4 N (range, 13.0-19.1 N). Stability was greater in some directions than in others. Rotating the joint changed the direction at which stability was greatest, whereas joint flexion did not. In supination, the greatest stability was observed for anteromedial dislocations, in neutral rotation for posteromedial dislocations, and in pronation for posterolateral dislocations. The findings from this study indicate systematic variations in wall height around the radial head concavity as well as individual variations in joint constraint. This may have implications for the treatment of conditions involving radiohumeral joint dislocation. (J Shoulder Elbow Surg 2002;11:158-165)

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.

Summary Background We report the utility of a surgical approach to treat mild (Bayne type I or II) radial club hand with a combination of radial bone lengthening and temporary external fixation between the ulna and the metacarpals. Methods We evaluated five radial club hands that received a new procedure involving radius lengthening with external fixation to support the radial side of the wrist. The evaluation included an assessment of radial deficiency deformity recurrence from the anteroposterior radiographs and a measurement of the passive range of wrist motion with the use of a goniometer before surgery and at the time of the final follow-up. We recorded complications such as infection and nerve palsy. Results The healing index of the radius was from 72.2 to 298.9 day/cm (mean, 176.8 day/cm). The mean radial/ulnar deviation was 84.0/−14.0° before surgery and 37.0/13.0° at the time of the final follow-up. No correction loss was detected during the follow-up. All patients were able to hold and bring an object to the mouth after surgery. No patient had a postoperative infection and there were no cases of nerve palsy. Conclusions All cases demonstrated a better range of motion despite a poor healing index in the present series. Our novel technique can be performed for cases with mild radial deficiency and with mild radius deficiency including growth plate injuries.

Ulnar dimelia (mirror hand with double ulna) is a rare congenital anomaly in which both forearm bones develop as a normal ulna and polydactyly is present in the hand, the thumb and radius bone being absent. Elbow and forearm problems remain after removal of excess digits and reconstruction of a radial finger to serve as a thumb to allow prehensile movement in all cases reported in the literature. No reports of elbow reconstruction have been identified, although reports of hand and thumb reconstruction have been published. We present our experience of improved activities of daily living (ADLs) after elbow reconstruction for a patient with ulnar dimelia. The elbow reconstruction led to better forearm range of motion but no significant improvement in elbow flexion.

Department of Dermatology, Hamamatsu University School of Medicine, Hamamatsu, Japan Division of Dermatology, Fujinomiya City [4_TD$DIFF]General Hospital, Fujinomiya, Japan Department of Dermatology, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan Department of Orthopedics, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan

Background Pachydermoperiostosis (PDP) is a rare genetic disorder characterized by 3 major symptoms: pachydermia including cutis verticis gyrata (CVG), periostosis, and finger clubbing. Recently, a homozygous mutation in the gene HPGD, which encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), was found to be associated with PDP. However, mutations in HPGD have not been identified in Japanese PDP patients. Objective We aimed to identify a novel responsible gene for PDP using whole exome sequencing by next-generation DNA sequencer (NGS). Methods Five patients, including 2 patient-parent trios were enrolled in this study. Entire coding regions were sequenced by NGS to identify candidate mutations associated with PDP. The candidate mutations were subsequently sequenced using the Sanger method. To determine clinical characteristics, we analyzed histological samples, as well as serum and urinary prostaglandin E2 (PGE2) levels for each of the 5 PDP patients, and 1 additional patient with idiopathic CVG. Results From initial analyses of whole exome sequencing data, we identified mutations in the solute carrier organic anion transporter family, member 2A1 (SLCO2A1) gene, encoding prostaglandin transporter, in 3 of the PDP patients. Follow-up Sanger sequencing showed 5 different SLCO2A1 mutations (c.940+1G>A, p.E427_P430del, p.G104*, p.T347I, p.Q556H) in 4 unrelated PDP patients. In addition, the splice-site mutation c.940+1G>A identified in 3 of 4 PDP patients was determined to be a founder mutation in the Japanese population. Furthermore, it is likely that the combination of these SLCO2A1 mutations in PDP patients is also associated with disease severity. Conclusion We found that SLCO2A1 is a novel gene responsible for PDP. Although the SLCO2A1 gene is only the second gene discovered to be associated with PDP, it is likely to be a major cause of PDP in the Japanese population.

Reconstruction of the first web is an important technique for thumb adduction contracture accompanying congenital anomalies. Our previous cases have been reviewed here to evaluate and compare the indications, results, and problems for these two techniques. The angle formed by the first and second metacarpals (first-second metacarpal angle; 1–2 MCA) on the anterio-posterior (AP) view of the hand, with the thumb in maximum radial abduction, was measured from X-ray. There were 37 patients (43 hands: 27 males, ten females). The average age at the time of surgery was 6.6 years (range, two to 22 years). The five-flap Z-plasty was performed on 20 hands. The spinner flap was performed on 23 hands. The Spinner flap is indicated when contractures are severe or when the preoperative 1–2 MCA is

A 9 year-old boy presented with a mass in the left wrist and motion-induced discomfort. The patient had a trigger phenomenon on the palmar side of his wrist caused by extension and flexion of the middle finger. The patient had no significant medical history. A 5-cm mass was visualized extending from the palm over the wrist. The patient did not have finger numbness, motor impairment, thenar muscle atrophy, or a Tinel-like sign of the wrist. X-ray imaging showed no abnormalities. A magnetic resonance image (MRI) showed a mass around a single flexor tendon, a lowintensity mass on T1-weighted images (Fig. 1), and a highintensity mass on T2-weighted images (Fig. 2). Accordingly, the mass was expected to be a ganglion or cyst. On sagittal images, the mass surrounded the flexor tendon. Because the symptoms did not improve, the patient underwent surgery 2 months after he noticed the mass. The mass was excised by opening the carpal tunnel. The flexor digitorum superficialis (FDS) of the middle finger adhering to the mass was enlarged (Fig. 3). Histological analysis showed cystic synovial tissue accompanied by thickened wall, papillary proliferation towards the lumen, fibrin deposition, and lymphocyte infiltration. (Fig. 4). Based on the above findings, the patient was diagnosed with a ganglion adhering to the FDS. One year after surgery, the patient had no discomfort, recurrence, or disturbance in daily living.

A previous anatomic study has revealed that the lateral collateral ligament (LCL) complex of the elbow has a Y-shaped configuration, which consists of a superior, an anterior, and a posterior band. The LCL complex, including the annular ligament, functions as a 3-dimensional (3D) Y-shaped structure. On the basis of this concept, joint laxity after transection of the anterior band was studied in 5 normal, fresh-frozen cadaver elbows with a 3D kinematic testing apparatus. Cutting the anterior band produced significant laxity to varus torque with a mean 5.9° at 10° of elbow flexion and caused significant laxity to torque in external rotation with a mean 8.5° at 40° of flexion. No significant laxity was observed during application of valgus or internal rotational torque. Further transection of the posterior band resulted in gross instability with dislocation of the ulnohumeral joint. The laxity occurring after severance of the anterior band suggests that these fibers play a role in preservation of elbow stability against varus and external rotational torque. These results indicate that the LCL functions as a complex with a Y structure and not as an isolated linear ligament. A concept of conjoint point is hypothesized for the function of the LCL complex to restrain posterolateral rotatory instability. (J Shoulder Elbow Surg 2002;11:53-9.)

In this study the kinematics of partial and total ruptures of the medial collateral ligament of the elbow are investigated. After selective transection of the medial collateral ligament of 8 osteoligamentous intact elbow preparations was performed, 3-dimensional measurements of angular displacement, increase in medial joint opening, and translation of the radial head were examined during application of relevant stress. Increase in joint opening was significant only after complete transection of the anterior part of the medial collateral ligament was performed. The joint opening was detected during valgus and internal rotatory stress only. After partial transection of the anterior bundle of the medial collateral ligament was performed, there was an elbow laxity to valgus and internal rotatory force, which became significant after transection of 100% of the anterior bundle of the medial collateral ligament and was maximum between 70 degrees to 90 degrees of flexion. No radial head movement was seen after partial or total transection of the anterior bundle of the medial collateral ligament was performed. In conclusion, this study indicates that valgus or internal rotatory elbow instability should be evaluated at 70 degrees to 90 degrees of flexion. Detection of partial ruptures in the anterior bundle of the medial collateral ligament based on medial joint opening and increased valgus movement is impossible.

[Introduction][1] It is sufficient to correct posttraumatic cubitus varus deformity in only the coronal plane in children under the age of ten years to allow more precise and stable correction, and a modified step-cut (reverse V) osteotomy is one of the best methods. ![Figure][2] [Step 1: Expose the Distal Part of the Humerus][3] With the patient in a lateral decubitus position, expose the distal part of the humerus both medially and laterally, using gentle retraction to avoid radial nerve palsy. ![Figure][2] ![Figure][2] [Step 2: Resect Bone][4] Using a triangular template made prior to surgery, perform the osteotomy. ![Figure][2] [Step 3: Reduce Deformity][5] Increase the degree of correction to reduce the deformity. ![Figure][2] ![Figure][2] [Step 4: Fixation and Skin Closure][6] Cross-pin with Kirschner wires, taking care to avoid hyperextension at the osteotomy site. [Step 5: Postoperative Management][7] Immobilize the elbow with a splint, and permit active motion two to three weeks after surgery. ![Figure][2] ![Figure][2] [Results & Preop./Postop. Images][8] Our case series included eight patients (four male and four female). The average age of the patients at the time of the osteotomy was 6.8 years (range, four to fourteen years). [What to Watch For][9] [Indications][10] [Contraindications][11] [Pitfalls & Challenges][12] [Introduction][1] It is sufficient to correct posttraumatic cubitus varus deformity in only the coronal plane in children under the age of ten years to allow more precise and stable correction, and a modified step-cut (reverse V) osteotomy is one of the best methods. ![Figure][2] [Step 1: Expose the Distal Part of the Humerus][3] With the patient in a lateral decubitus position, expose the distal part of the humerus both medially and laterally, using gentle retraction to avoid radial nerve palsy. ![Figure][2] ![Figure][2] [Step 2: Resect Bone][4] Using a triangular template made prior to surgery, perform the osteotomy. ![Figure][2] [Step 3: Reduce Deformity][5] Increase the degree of correction to reduce the deformity. ![Figure][2] ![Figure][2] [Step 4: Fixation and Skin Closure][6] Cross-pin with Kirschner wires, taking care to avoid hyperextension at the osteotomy site. [Step 5: Postoperative Management][7] Immobilize the elbow with a splint, and permit active motion two to three weeks after surgery. ![Figure][2] ![Figure][2] [Results & Preop./Postop. Images][8] Our case series included eight patients (four male and four female). The average age of the patients at the time of the osteotomy was 6.8 years (range, four to fourteen years). [What to Watch For][9] [Indications][10] [Contraindications][11] [Pitfalls & Challenges][12] [1]: #sec-10 [2]: pending:yes [3]: #sec-11 [4]: #sec-12 [5]: #sec-13 [6]: #sec-14 [7]: #sec-15 [8]: #sec-16 [9]: #sec-17 [10]: #sec-18 [11]: #sec-19 [12]: #sec-20