Retrospective analysis of 35 pediatric femoral neck fractures.

OBJECTIVE: Pediatric proximal femur fracture is extremely rare trauma comparing to other fractures. The proximal femur fracture is 1% of all pediatric fractures. The aim of current study is to compare the incidence of early complications and outcomes of pediatric proximal femur fractures regarding fracture types retrospectively. DESIGN: Our study includes 35 cases which are criticized by Delbet classification system, modalities of treatment, duration of waiting for surgery, duration of follow-up and also complications. Our inclusion criteria are age below 16 years old, proximal femur fractures with no evidence of tumoral, romathologic and methabolic conditions. Age, sex and surgery type (open-closed) were noted, and the data were statistically assessed. Assessment of the final outcome was made at the last follow-up visit using the Ratliff's method. RESULTS: The mean of age of patients in our study is 9.5 ± 5.06 years. The average follow-up was 25.6 ± 13.2 months. 15 patients (42.9%) are type 2 Delbet fracture, 5 patients (14.2%) are Delbet type 3 and 15 patients (42.9%) are Delbet type 4 fracture. Using the Ratliff's method, 25 patients (71.4%) had satisfactory outcomes. Ten patients (28.6%) had unsatisfactory outcomes. The complications as AVN, coxa vara and premature closure of physis, non-union and postoperative infections have been detected in this study. AVN was seen in four (11.4%) patients. In addition, coxa vara was seen in six (17.2%) patients. CONCLUSION: Pediatric femoral neck fractures are extremely rare fractures and can be treated with low complication rates in cases with early treatment and anatomic reduction.

Statistical shape modeling of the hip and the association with hip osteoarthritis: a systematic review.

OBJECTIVE: To summarize available evidence on the association between hip shape as quantified by statistical shape modeling (SSM) and the incidence or progression of hip osteoarthritis. DESIGN: We conducted a systematic search of five electronic databases, based on a registered protocol (available: PROSPERO CRD42020145411). Articles presenting original data on the longitudinal relationship between radiographic hip shape (quantified by SSM) and hip OA were eligible. Quantitative meta-analysis was precluded because of the use of different SSM models across studies. We used the Newcastle-Ottawa Scale (NOS) for risk of bias assessment. RESULTS: Nine studies (6,483 hips analyzed with SSM) were included in this review. The SSM models used to describe hip shape ranged from 16 points on the femoral head to 85 points on the proximal femur and hemipelvis. Multiple hip shape features and combinations thereof were associated with incident or progressive hip OA. Shape variants that seemed to be consistently associated with hip OA across studies were acetabular dysplasia, cam morphology, and deviations in acetabular version (either excessive anteversion or retroversion). CONCLUSIONS: Various radiographic, SSM-defined hip shape features are associated with hip OA. Some hip shape features only seem to increase the risk for hip OA when combined together. The heterogeneity of the used SSM models across studies precludes the estimation of pooled effect sizes. Further studies using the same SSM model and definition of hip OA are needed to allow for the comparison of outcomes across studies, and to validate the found associations.

Syndrome of progressive deforming non-inflammatory arthritis of childhood: two patients of camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare familial arthropathy of childhood, commonly misdiagnosed as juvenile idiopathic arthritis. It is characterized by non-inflammatory arthropathy, coxa vara deformity, and sterile pericarditis. We describe two children with CACP syndrome who were referred to the rheumatology clinic for the suspicion of inflammatory arthritis. A literature search was carried out using PubMed/ Medline and Embase databases. English language reports of mutation-proven cases of CACP syndrome reported until 31 March 2020 were retrieved and analysed. Both the children had a delay in diagnosis (age at diagnosis- 12 and 13 years, respectively) and had received immunomodulatory therapy for suspected inflammatory arthritis. Presence of symmetrical arthropathy of large joints, camptodactyly, and normal inflammatory parameters are clues that indicated CACP syndrome. One child with a novel variant in PRG4 also had associated mitral valve prolapse and regurgitation. Both had severe constrictive pericarditis requiring pericardiectomy. On literature review, a total of 98 mutation-proven cases of CACP syndrome have been reported till date. Arthropathy in CACP syndrome mainly involves knees, wrists, ankles, and hips. Pericarditis is usually mild, however, can present rarely with severe symptoms requiring surgical intervention. CACP syndrome can closely mimic inflammatory arthritis and early clinical recognition is important to avoid misdiagnosis. Molecular confirmation is essential for early diagnosis and future genetic counselling for affected families.

Femoral neck shaft angle in relation to the location of femoral stress fracture in young military recruits: femoral head versus femoral neck stress fracture.

OBJECTIVE: To evaluate the influences of the femoral neck shaft angle (FNSA) on the location of the femoral stress fracture and to assess the potential differences in FNSA between fractured and normal femurs. MATERIALS AND METHODS: Thirty-seven patients with femoral stress fractures who underwent both plain hip radiographs and MRI, from January 2016 to September 2019, were retrospectively included. Patients were classified as having either femoral head stress fracture (group A, n = 26) or femoral neck stress fracture (group B, n = 11). The FNSA was measured in anteroposterior (AP) hip radiograph. The Mann-Whitney U testing was used to compare the continuous values between the two groups. A receiver operating characteristic (ROC) analysis was used to evaluate the value of FNSA for predicting the risk of femoral stress fracture. RESULTS: The FNSA was significantly higher in group A (median 135.9°, range 129.5-138.6°) than group B (median 124.3°, range 119.5-129.0°) (p < 0.001), but there were no significant differences in other clinical factors. Furthermore, the FNSA was significantly higher at the fractured femurs (median 135.9°, range 129.9-138.6°) than contralateral normal femurs (median 127.9°, range 123.8-132.1°) in the patients with unilateral femoral head stress fracture (n = 22) (p < 0.001). The ROC analysis revealed that the area under curve (AUC), sensitivity, and specificity for predicting the risk of femoral head stress fracture were 0.807, 72.7%, and 68.2%, respectively, at a FNSA cutoff of 131.0°. CONCLUSION: FNSA was associated with the location of the femoral stress fracture. In addition, FNSA could serve as a predictive factor for the risk of femoral head stress fractures.

[Fibrous dysplasia]. / Fibröse Dysplasie.

Fibrous dysplasia is a benign intraosseous tumor, which can occur as a monostotic or polyostotic disease. As a combination of dermatological and endocrinological features it is known as McCune-Albright syndrome, in conjunction with intramuscular myxoma as Mazabraud's syndrome. Fibrous dysplasia originates from a genetic defect, a postzygotic mutation of the GNAS gene, leading to incorrect regulation of the osteogenesis of the affected area of the bone. The weakening of the bone causes a variety of symptoms ranging from isolated local pain, acute fractures up to severe deformation of the bones. In the latter case the patients may lose the capability of walking. The orthopedic treatment provides suitable methods to set and stabilize fractures, to strengthen weakened bones and to straighten out and stabilize deformed long bones. This can help many patients return to a high level of pain-free mobility and even allow the most badly affected patients to lead a better life with a restricted mobility.

Slipped capital femoral epiphysis after treatment of femoral neck fracture.

Slipped capital femoral epiphysis (SCFE) in children after treatment of femoral neck fracture is a very rare condition. This complication should be recognized promptly and treated urgently. The risk of development of this complication can be minimized by anatomical reduction of the fracture and stable internal fixation of the fracture. Five years old male child sustained right sided femur neck fracture and was treated with closed reduction and Hip spica cast application. The fracture healed with a varus deformity. After 7 months, he developed slip of femoral epiphysis with a coxa vara deformity of proximal femur, which was treated with in situ fixation with Cannulated screws. His subsequent course remained uneventful up to five months. Slipped capital femoral epiphysis (SCFE) after treatment of femoral neck fracture in children is a rare complication that should be recognized and treated promptly. The onset of SCFE may show inadequate reduction or fixation of the fracture. Anatomic reduction and stable internal fixation for femoral neck fracture in children provides best outcomes. Postoperative care and delayed weight bearing are also equally important to avoid complications.

[Specific cases of slipped capital femoral epiphysis : Endocrinopathies, hormone therapy and other rare causes]. / Besondere Fälle der Epiphyseolysis capitis femoris : Endokrinopathien, Hormontherapie und andere seltene Ursachen.

In slipped capital femoral epiphysis (SCFE) atypical causes can be found in about 5% of cases. The patients' age differs from the typical age of SCFE patients of between age 10 and 16. There are numerous causes of atypical SCFE: different endocrine disorders, sequelae of chronic renal failure and effects of radiation and chemotherapy on the proximal femoral physis. The diagnostic and therapeutic procedures must be expanded to the search for and treatment of endocrinological disorders. Orthopaedic treatment follows the principles applied to patients with idiopathic SCFE. However, the specific treatment modalities which arise from different patient ages and bone qualities are taken into account.

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses. The molecular basis for this disorder has yet to be clarified. We describe two patients with SMD corner fracture type and heterozygous pathogenic variants in COL2A1. These two cases together with a third case of SMD corner fracture type with a heterozygous COL2A1 pathogenic variant previously described suggest that this disorder overlaps with type II collagenopathies. The finding of one of the pathogenic variants in a previously reported case of spondyloepimetaphyseal dysplasia (SEMD) Strudwick type and the significant clinical similarity suggest an overlap between SMD corner fracture and SEMD Strudwick types. © 2016 Wiley Periodicals, Inc.

Trochantoplasty for Total Hip Arthroplasty in Patients With Coxa Vara Deformity.

BACKGROUND: In total hip arthroplasty (THA) of hips with coxa vara, the femoral stems might be inserted in a varus alignment. To avoid varus insertion, we designed a technique, which we termed "trochantoplasty." In this procedure, the medial half of the greater trochanter was removed during THA. METHODS: We evaluated 30 patients (31 hips) who had coxa vara deformity and underwent THA using trochantoplasty at the mean follow-up of 5 years (range, 3-9 years). RESULTS: All stems were inserted in the neutral position. One Vancouver type 1 periprosthetic femoral fracture occurred after a fall at postoperative 2 months. At the latest follow-up, the mean power of abductor was 4.3 (range, 3-5). Four patients had moderate limp whereas 26 patients had slight limp. The abduction at 90° flexion ranged from 15° to 45° (mean, 35°). There was no revision. All prostheses had bone-ingrown stability without any detectable wear or osteolysis. The mean Harris hip score was improved from 66.9 to 89.4 points. CONCLUSION: Trochantoplasty can be used to avoid varus insertion of the femoral stem while performing THA in patients with coxa vara deformity without compromising the abductor mechanism.

Transfixing Kirshner wires for fixation of intertrochanteric valgus osteotomies in management of pediatric coxa vara.

BACKGROUND: Coxa vara is a radiological term describing a decrease in the neck-shaft angle to 120° or less. Coxa vara is associated with pathomechanical changes that can manifest clinically. If left untreated, coxa vara can affect the normal development of the pediatric hip. Valgus osteotomy is the standard surgical treatment for coxa vara, but there is no consensus regarding the optimal osteotomy technique and fixation method. The work reported here aimed to highlight transfixing wires as a fixation method for valgus osteotomy applied as treatment for various types of pediatric coxa vara. MATERIALS AND METHODS: This study included 16 cases of pediatric coxa vara with different etiologies in 9 patients with a mean age of 39.9 ± 15.2 months. Radiological and clinical evaluations and scoring of the condition of each patient according to the Iowa Hip Score were performed pre- and postoperatively. Transfixing wires and a protective spica were used for the fixation of a V-shaped, laterally based, closing-wedge valgus osteotomy in all cases. The postoperative follow-up period ranged from 14 to 102 months, with a mean duration of 33.3 ± 27.7 months. RESULTS: The mean Hilgenreiner epiphyseal angle (HEA) was corrected from 81.7 ± 2.2° to 24.3 ± 3.5° and the mean femoral neck-shaft angle (FNSA) was improved from 86.9 ± 4.2° to 138.6 ± 3.5°. No recurrence of the deformity was observed during the follow-up periods considered here. The osteotomy site united after an average of 11.7 ± 2.2 weeks with no secondary displacement, and in cases of developmental coxa vara there was progressive ossification of the neck defect with no surgery-related complications. Clinical results were markedly improved by the osteotomy, with a mean postoperative Iowa Hip Score at last follow-up of 95.06 ± 2.6, compared to a mean preoperative score of 57.4 ± 3.6. CONCLUSIONS: Transfixing wires protected in a hip spica cast represent a simple, easy, and reliable fixation method for valgus osteotomies performed to correct pediatic coxa vara. It assures stable fixation and rapid healing of the osteotomy without loss of the achieved correction, it completely avoids the femoral neck affording marked protection to the growth plate. LEVEL OF EVIDENCE: IV.

[Evaluation of care for slipped capital femoral epiphysis (SCFE) in Germany]. / Analyse der Versorgungssituation bei Epiphyseolysis capitis femoris (ECF) in Deutschland.

INTRODUCTION: The treatment concept for slipped capital femoral epiphysis is still controversial. According to studies, there is currently no recommendation for a universal approach. Therefore, the aim of this study is to analyze the care reality of children with ECF in Germany. METHODS: The evaluation of the study is performed based on a questionnaire sent to physicians tending to ECF in 2021. Data is compared to the literature. RESULTS: 36 of 47 questionnaires sent out were included. Overall, no significant difference in ECF care was proven in terms of annual caseload or the size of hospital. CONCLUSION: A high variance in operative SCFE treatment is reported. According to current literature, the modified Dunn procedure is considered the best therapeutic option to date, especially for patients with severe or chronic ECF. However, compared with alternative care options, this is not feasible in every hospital due to its complicating and challenging nature. Central registration, minimum volume regulation, and expansion of continuing education measures can contribute to optimization.

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome and an unusual association with mitral stenosis.

BACKGROUND: 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. CASE: 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. CONCLUSIONS: 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.

Open versus closed reduction and internal fixation in children with femoral neck fractures. Systematic review and meta-analysis of the literature.

Background: 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. Methods: 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). Results: 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%). Conclusion: 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.

Choi IIIB sequelae of septic hip: Etiologically different entities clubbed together?

Background: Choi IIIB sequela (pseudarthrosis of femoral neck) is an uncommon complication of septic hip. Only few cases are reported in literature and experience with the entity is limited. Variable pseudarthrosis behaviour and treatment outcomes are reported questioning the mechanical etiology for Choi III sequela. Methods: We briefly analysed the relevant literature and propose two different pathomechanism for the entity. Three illustrative cases in support of proposed etiology are presented. Results: There seems to be two distinct mechanisms of pseudarthrosis formation in Choi IIIB. The originally described mechanism is the articulating head getting dissociated from proximal femur due to a mechanical cause. The second proposed mechanism is the damage of physis and adjoining metaphysis by the septic inflammatory process (Choi II type sequela). Conclusions: It is important to understand the possible etiologies in Choi IIIB pseudarthrosis as the treatment planning and outcomes may vary. It will also help in prognostication.

SUPERhip Reconstruction Treatment in Patients with Congenital Femoral Deficiency of Paley's Classification Type 1b.

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.

Physical Therapy Interventions: A Case Report of Building Strength, Confidence, and Mobility in a Seven-Year-Old With Congenital Femoral Deficiency With Coxa Vara.

Congenital femoral deficiency (CFD) and congenital coxa vara (CCV) are rare conditions characterized by abnormal development of the femur and hip joint, respectively. This case report documents the rehabilitation journey of a seven-year-old child diagnosed with CFD and CCV, highlighting the efficacy of physical therapy interventions in enhancing strength, balance, normal gait patterns, confidence, and mobility. Through a comprehensive physiotherapy regimen tailored to the specific needs of the patient, significant improvements in muscle strength, joint stability, and functional mobility were observed over the course of treatment. Moreover, the implementation of targeted exercises and adaptive strategies not only facilitated physical gains but also contributed to bolstering the child's confidence and overall quality of life. This case underscores the pivotal role of physiotherapy in addressing the complex challenges associated with congenital orthopedic anomalies, ultimately fostering independence and well-being in pediatric patients.

Does early stable fixation reduce complications in paediatric femoral neck fractures?

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.

A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report.

BACKGROUND: Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the proteoglycan 4 (PRG4) gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. This syndrome can mimic juvenile idiopathic arthritis. CACP syndrome is caused by mutations in the proteoglycan 4 (PRG4) gene. To date, only 36 pathogenic mutations have been reported in this gene, but none have been reported from Azerbaijan. CASE PRESENTATION: Herein, we report two siblings presented with chronic polyarthritis, had a prior diagnosis of juvenile idiopathic arthritis, but was subsequently diagnosed as CACP syndrome with novel mutation in the PRG4 gene. CONCLUSION: Our report expands the knowledge of PRG4 mutations, which will aid in CACP patient counseling.

Klippel-Trénaunay Syndrome and Developmental Coxa Vara in the Same Limb: A Case Report with a Review of the Literature.

We present a case of a 14-year-old girl who was first treated when she was 4 years old. She had progressive limping of the left lower limb from the age of 3 years. She was diagnosed to have developmental coxa vara of the left hip and treated by a subtrochanteric valgus osteotomy of the left femur. Later, she developed hypertrophy of the left upper and lower limbs. There were port-wine stains over the left lower limbs with multiple superficial varicosities. Her diagnosis was Klippel-Trénaunay syndrome (KTS). She is asymptomatic at the final follow-up. Both developmental coxa vara and KTS are rare conditions. We present this case to demonstrate the rarest combination of two rare conditions occurring in the same limb.

Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases.

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.