Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive disease caused by mutation in proteoglycan 4 (PRG4) gene on chromosome 1q25-q31. We faced a dilemma and delay in diagnosis in two sisters. The elder sister had pericardial effusion with constrictive pericarditis, underwent pericardiectomy and received empirical treatment for suspected tuberculosis. After 2 years, she developed bilateral knee swelling with restriction of movement. At the same time, her younger sister also presented with bilateral knee swelling which aroused the suspicion of genetic disease. The whole-genome sequencing revealed homozygous PRG4 mutation suggestive of CACP syndrome.

METHODS: We describe the surgical management of a girl with dwarfism and congenital spondyloepiphyseal dysplasia, who presented in adolescence with coxa vara and bilateral pseudarthrosis between the femoral neck and the diaphysis, with asymmetric distal migration at both sites and leg length discrepancy. The patient at 16 years underwent valgus osteotomy in situ and femoral neck fixation in the left hip. The right hip was operated 19 months later.
CONCLUSIONS: Hip dysplasia is common in spondyloepiphyseal dysplasia, but a debilitating nontraumatic bilateral pseudarthrosis at the base of the femoral neck has not been previously reported. Valgus corrective osteotomies of the femur in situ led to union and allowed the patient to walk.

Campotodactyly-artrhropathy-coxa vara-pericarditis (CACP) syndrome is a very rare autosomal recessive genetic disorder. It is characterized by flexion contracture of the fifth finger (camptodactyly); noninflammatory arthropathy; decreased angle between the shaft and the head of the femur (coxa vara) and pericarditis. Its association with mitral stenosis has not yet been reported. Hereby we report this unique association with CACP syndrome.
An eleven-year-old girl presented with non-productive cough, dyspnea, and orthopnea. She was diagnosed CACP syndrome at the age of seven and a biallelic frameshift mutation in the PRG4 gene was determined. The physical examination revealed pectus excavatum, camptodactyly, genu valgum, tachypnea and orthopnea. The functional capacity was NYHA III-IV. She had 2/6 soft pansystolic murmur at 4th left intercostal space and a rumbling diastolic murmur at apex. Echocardiography revealed an enlarged left atrium, severe stenotic mitral valve with a mean diastolic transmitral gradient of 22.5 mmHg, mild mitral regurgitation and mild apical pericardial effusion. The patient had mitral comissurotomy and partial pericardiectomy operation. Her post-operative transmitral gradient decreased to 6.9 mmHg and the pulmonary pressure was 30 mmHg. Her functional capacity increased to NYHA I-II.
The main defect is the proteoglycan 4 protein which acts like a lubricant in articular and visceral surfaces. Therefore, the leading clinical feature is arthropathy. Cardiac involvement other than clinically mild pericarditis is not usually expected. Three types of proteoglycans (decorin, biglycan, and versican) are present in the mitral valve. This could be the reason of mitral valve involvement in rare cases as like ours. It is important that these patients undergo echocardiographic examination regularly.

The primary objective of this study was to juxtapose the union rate and incidence of complications in paediatric patients presenting early (≤ 7 days) following injury with children presenting later (> 7 days) with femoral neck fractures. This critical appraisal evaluated 15 patients according to their timing of presentation and surgery from the initial day of injury (Group A: operated ≤ 7 days or Group B: > 7 days of injury). Patients with traumatic femoral neck fractures with Delbet 1 to 4 subtypes who were skeletally immature (age ≤ 16 years) were included in the study. Pathological fractures and post-infective fractures were not included. Each patient\'s secondary loss of reduction was calculated by measuring the Neck shaft angle (NSA) on the immediate post-operative radiograph and at the union. A change in NSA of ≥ 5 degrees was considered a significant loss of reduction. Ratliff\'s Criteria was used to analyze the final result, and a thorough record of complications was kept. There were no significant variations in the two groups\' with respect to distributions of age, sex, injury mechanism, or fracture pattern. The most frequent injury culprit in both groups was falling from a height. Type II fracture pattern (54.54%) was more common in group A, while Type III and Type II fracture pattern was equally distributed in group B. In group A, the mean operation time was 55 ± 8.25 minutes, whereas in group B, it was 65 ± 15 minutes (p-value > 0.05). In group A, 90.9% of patients underwent CCS fixation, and in group B, 75% underwent fixation by CCS. The quality of reduction in post-operative radiographs was anatomical in 10 (90.9%) patients and unacceptable in 1 (9.1%) patient. In group B, 2 (50%) patients had an anatomical reduction, while 2 (50%) patients had an unacceptable reduction. Timing of reduction and its association with complications showed that early stable reduction and fixation decrease the occurrence of complications in femoral neck fractures (p-value = 0.033). Fracture union was seen in all our patients in both groups and none of our patients underwent non-union. The mean union time was 11.11 ± 7.06 weeks in group A and 16.5 ± 2.59 weeks in group B (p-value = 0.0189). In group A, only 1 (9.1%) patient developed coxa vara. In group B, out of 4 patients, the femoral head of one patient underwent avascular necrosis, one patient exhibited coxa vara, and 1 patient developed premature physeal closure with limb length inequality. Management of femoral neck fractures in children is challenging because of the paediatric bone\'s peculiar anatomic and physiological considerations. In our study, patients operated within 7 days developed fewer complications as compared to patients who were operated after 7 days, which was statistically significant. Although AVN is a frequent adverse consequence of pediatric femoral neck fractures, early reduction and stable fixation lowers AVN rates, as observed in our study. Our short-term functional and radiological results using the Ratliff scoring system were comparable to previous studies owing to stable anatomic reduction. Based on our findings and the existing literature, we emphasize long-term follow-up and recommend an early stable anatomic reduction in the treatment of paediatric femoral neck fractures.

UNASSIGNED: Femoral neck fractures in children are uncommon, making up little more than 1% of all paediatric fractures. It\'s not apparent which type of internal fixation-closed or open-is preferable in these situations when it comes to therapeutic options. When treating children with displaced femoral neck fractures, serious problems can arise.
UNASSIGNED: Five databases were examined: Medline Plus, PubMed, Scopus, Science Direct, and Web of Science. The outcomes that were relevant for the meta-analysis were non-union, coxa vara, and avascular necrosis. Using the RevMan file, we extracted the data and carried out the analysis (Review Manager Version 5.3).
UNASSIGNED: 294 patients had ORIF procedures and 266 patients had CRIF procedures in the included trials. Regarding the outcome of avascular necrosis, we discovered that there was no statistically significant difference between the two groups (RR = 0.84, [95% confidence range (CI) = 0.60, 1.18], P = 0.32). There was homogeneity in the data (P = 0.22, I2 = 27%). When it came to coxa vara, there was no statistically significant difference between the two groups (RR = 0.69, [95% CI = 0.30, 1.58], P = 0.38). There was homogeneity in the data (P = 0.22, I2 = 27%). Regarding non-union, the similar outcome was seen (RR = 0.45, [95% CI = 0.16, 1.14], P = 0.12). There was homogeneity in the data (P = 0.49, I2 = 0%).
UNASSIGNED: Regarding reducing the risk of non-union, coxa vara, and avascular necrosis, we did not find any difference between CRIF and ORIF. To validate this outcome, however, additional research on the various variables (fracture type, age, displacement, fixation technique, and duration of surgery) is required. Sorting patients based on the kind of fracture will ensure that the right approach is used for each type.

BACKGROUND: Complications following operative treatment of pediatric femoral neck fractures include nonunion, coxa vara, and avascular necrosis (AVN). Proximal femoral locking plates (PFLPs) provide a fixed-angle construct that may reduce the rates of coxa vara, but their use in pediatric femoral neck fractures has not been studied. The purpose of this study was to evaluate rates of union, coxa vara, and AVN in traumatic pediatric femoral neck fractures treated with PFLP or cannulated screws (CS).
METHODS: We retrospectively reviewed all traumatic, nonpathologic Delbet II/III femoral neck fractures in patients below 18 years of age treated with PFLP or CS. All cases had ≥6 months of radiographic follow-up to evaluate for osseous union and AVN. Changes in proximal femoral alignment were determined by measuring injured and contralateral femoral neck-shaft angle and articulotrochanteric distance (ATD) between 6 and 12 months postoperatively.
RESULTS: Forty-two patients were identified with mean age at surgery of 10.7±2.9 years (range 3.3 to 16.3 years) and mean follow-up of 36±27 months. Sixteen patients (38%) underwent PFLP fixation, whereas 26 patients (62%) underwent CS fixation. When compared with the CS cohort, the PFLP cohort had a greater proportion of males (87.5% vs. 50%, P =0.02) and Delbet III fractures (68.8% vs. 15.4%, P <0.001). There was no difference between PFLP and CS cohorts with respect to rates of union (81% vs. 88%, respectively, P =0.66), AVN (25% vs. 35%, respectively, P =0.73), or secondary surgery (62% vs 62%, P =0.95). There was no significant difference in neck-shaft angle between injured and contralateral hips in those patients treated with PFLP ( P =0.93) or CS ( P =0.16). However, the ATD was significantly decreased in hips treated with CS compared with the contralateral hip (18.4±4.6 vs. 23.3±4.2 mm, P =0.001), with no significant difference in the PFLP group ( P =0.57).
CONCLUSIONS: This study suggests that the use of a PFLP in Delbet II/III femoral neck fractures does not appear to significantly increase nonunion rates or AVN and maintains anatomic ATD when compared with screw fixation.
METHODS: Level III-therapeutic study.

BACKGROUND: Congenital femoral deficiency (CFD) is a challenging and complex condition that causes limb lengthening. We focused on the clinical and radiographic results of SUPERhip procedures in patients with congenital femoral deficiency type 1b, according to Paley\'s classification, prior to femoral lengthening.
METHODS: We reviewed all records and radiographs of patients who underwent this procedure between 2005 and 2020. We included 26 patients, with clinical and radiographic assessments performed during pre- and post-operative evaluations.
RESULTS: There were twenty-six patients (15 right vs. 11 left), with a mean age of 7 years (1-18). Most of the patients were female (17 patients; 65.4%). Twenty (76.9%) patients were undergoing their first procedure and six (23.1%) had already undergone a previous surgery. There was a significant improvement in all radiographic parameters, with the mean preoperative and postoperative Neck-Shaft Angle (NSA) being 72.3 ± 7.1° vs. 133.1 ± 12.7°, the Center-Edge Angle (CEA) 16.8 ± 9.8° vs. 33.5 ± 14.1°, and the Acetabular Index (AI) 27.8 ± 6.9° vs. 16.4 ± 6.8°, respectively. The complication rate was 15.4%, predominantly affecting patients under 5 years old.
CONCLUSIONS: The SUPERhip procedure is an effective and reproducible technique for clinical and radiographic correction to a significant degree in patients with Paley\'s type 1b CFD, in preparation for bone lengthening surgery.

BACKGROUND: Proximal femur simple bone cysts (SBCs) are rare in children, but with a risk of pathological fractures and the associated poor outcomes. This study aimed to evaluate the functional and radiographic outcomes of children with proximal femur SBCs.
METHODS: 38 children with proximal femur SBCs treated surgically at our department, West China hospital, were enrolled in the study. Patients were divided into two groups according to whether pathological fractures presented before treatment. The non-fracture group received treatment of open curettage, cavity electrocauterization, bone grafting, and fixation (proximal femoral plate, intramedullary nail or Kirschner wire). The pathological fracture group received the same procedures of curettage, electrocauterization, grafting, and fixation. Autogenous iliac bone grafting was done in all cases, and the artificial bone was used as a supplementary based on the size of the cavity. Postoperatively, all patients underwent hip spica or similar orthosis immobilization for six weeks and received the same rehabilitation program after the removal of hip spica. Patients were evaluated by two independent observers, including the functional results based on the Ratliff\'s criteria, avascular necrosis, healing rate based on the Neer scoring system, coxa vara, and premature physeal arrest. We described the good outcome in Ratliff\'s criteria as \"Satisfactory results\", and fair and poor outcomes as \"Unsatisfactory results.\" Grade 1 and grade 2 Neer results were termed as failures in treatment, and grades 3 and 4 were considered successes and healing.
RESULTS: 38 patients with 38 hips (18 on the left side and 20 on the right side) were evaluated, including 9 females and 29 males, with a mean age of 9.0±2.6 years old (range, 5 to 14 years). There was no significant difference between these two groups in the baseline data of gender, age, side, grafting, staging, and fixation methods. The rate of unsatisfactory functional results in the pathological fractures group was 56.3% (9/16), significantly higher than that in patients without fracture (22.7%, 5/22. p= 0.047). There was also a significant difference in avascular necrosis of the femoral head between the pathological fractures group (7/16) and the group without fracture (2/22, p=0.021). Thirty cases presented with healing, including 13 in the fractures group and 17 in the non-fracture group (p=1.000), and eight cases were graded as failures (2 cases of grade 1 and 6 cases of grade 2). There were also no significant differences between these two groups in premature physeal arrest (2 in fracture group and 1 in non-fracture group, P=0.562), and Coxa vara (3 in the fracture group and 0 in non-fracture group, P=0.066).
CONCLUSIONS: Pathological fracture significantly increases the risk of unsatisfactory functional results and avascular necrosis of the femoral head in patients with femoral neck SBCs. Prophylactic treatment and fixation of SBCs in weight bearing proximal femur region is better to manage without complications than managing with pathological fractures.

We report two patients with musculoskeletal manifestations as part of the Bardet-Biedl syndrome. The first patient (case 1) was born with polydactyly and later diagnosed with coxa vara. He had homozygous pathogenic mutation in the BBS1 gene of the variant c.1645G>T (p.Glu459*). The second patient (case 2) had nyctalopia and progressive vision worsening had osteoarthritis symptoms. He had a heterozygous mutation in the BBS1 gene of the variant c.1169T>G (p.Met390Arg). Although polydactyly is the most prevalent musculoskeletal association in patients with the syndrome, co-management of the musculoskeletal manifestations remains of utmost importance in patients with the syndrome.

The incidence of Slipped capital femoral epiphysis (SCFE) after management of femoral neck fracture in pediatrics is very rare. In this case report, a nine-year-old female child sustained left sided femur neck fracture after a motor car accident. The fracture was fixed by two cannulated screws and healing with mild varus occurred after six weeks. However, progressive slippage of femoral epiphysis was observed. This was treated by subtrochanteric valgus osteotomy and fixed by tension band and Wagner technique. Better radiological and functional outcomes were obtained at the short term follow up.