Complex foot deformities associated with lower limb deformities: a new therapeutic strategy for simultaneous correction using Ilizarov procedure together with osteotomy and soft tissue release.

AIM: The aim of the current study is to introduce a new therapeutic strategy for simultaneous correction of complex foot deformities (CFD) and the associated lower limb deformities (LLD) by using Ilizarov technique with osteotomy and soft tissue procedure and to report its early clinical results. METHODS: A retrospective review of CFD associated with LLD simultaneous correction utilizing the Ilizarov procedure together with osteotomy and soft tissue balance from 2015 to 2019 was conducted. RESULTS: Thirty-two patients were followed for an average of 42.8 months. The mean external fixation time (EFT) was 6.5 months. The mean healing index (HI) was 1.7 months/cm. At the time of fixator removal, plantigrade feet were achieved in all patient and lower limb deformities were corrected. No recurrence of the deformities occurred. The mean LLRS AIM score was improved from 7.5 to 0.3. At the final follow-up, the ASAMI-Paley score was graded as excellent in all limbs in the aspect of bone results, and functional results were defined as excellent in 29 (90.6%) limbs and good in 3 (9.4%) limbs. The mean modified Dimeglio score was significantly improved from 7.2 to 1.3. No deep infection of the osteotomy site or nonunion was noted in the current study. CONCLUSION: The therapeutic strategy by using the Ilizarov procedure together with osteotomy and soft tissue balance is a safe and effective way to simultaneously correct CFD and LLD. LEVEL OF EVIDENCE: Level IV, retrospective case series.

Correction of Genu Valgum in Patients With Congenital Fibular Deficiency.

BACKGROUND: Patients with congenital fibular deficiency often develop genu valgum secondary to lateral femoral condylar hypoplasia. Guided growth strategies are often performed to correct limb alignment when adequate skeletal growth remains. METHODS: A retrospective review of patients with postaxial hypoplasia of the lower extremity managed with an amputation strategy and who had a guided growth procedure for coronal plane limb malalignment during their course of treatment was performed. Clinical and radiographic data, including measures of coronal plane deformity and alignment, type of amputation, subsequent operative procedures, and complications were recorded. RESULTS: Seventeen patients (20 extremities) met study inclusion criteria (mean follow-up 8.8 y). Foot ablation and hemiepiphysiodesis for valgus deformity of the knee was performed in all extremities. The average age at the time of initial hemiepiphysiodesis was 11.2 years at an average of 8.8 years from the initial amputation procedure. The mean preoperative mechanical axis deviation was 26.5 mm, which was corrected to a mean mechanical axis deviation of 7.0 mm. Fifteen (75%) of the extremities had correction of the deformity to neutral alignment after the initial procedure. Lack of correction occurred in 3 extremities, and overcorrection occurred in 2 extremities. Additional procedures were required in 5 extremities for rebound valgus deformity after hardware removal. CONCLUSIONS: In patients with postaxial hypoplasia, regular monitoring of the residual limb for growth-related changes must occur to ensure optimal function and prosthetic fit. Timing of the guided growth procedure is critical, as younger patients may be more likely to experience rebound deformity. Families and patients should be made aware that growth might be unpredictable in this population with risks of both overcorrection and undercorrection. LEVEL OF EVIDENCE: Level IV-case series.

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.

High tibial osteotomy accelerates lateral compartment osteoarthritis in discoid meniscus patients.

PURPOSE: The valgus high tibial osteotomy (HTO) in patients with medial osteoarthritis and discoid lateral meniscus can result in increased load on the lateral compartment and hence a higher chances of tear. This may accelerate the progression of osteoarthritis on lateral compartment. We, therefore, carried out the case control study with a hypothesis that an HTO would accelerate the progression of osteoarthritis (OA) on lateral compartment in patients with complete discoid meniscus. METHODS: The records of all patients with open wedge HTO from 2008 to 2012 were evaluated for complete lateral discoid meniscus. The patient who had a valgus HTO with or without partial meniscectomy for medial compartmental OA was included for this study. Cases to control were chosen to match age, body mass index (BMI), pre-operative osteoarthritis grade, and deformity angles in ratio 1:2. Patient's records were studied for demographic data, clinical examination records, and pre-operative knee functional scores and radiological scores and were compared with post-operative data. RESULTS: Thirty-six patients out of 674 patients, who underwent an HTO, consisted of discoid meniscus group. 72 patients were chosen as control group. Four patients showed progression of OA on the lateral compartment in discoid group compared to none in control group. Although control groups showed a little bit better functional outcomes, there were no statistical differences between two groups (n.s.). CONCLUSION: The high tibial osteotomy could result in accelerated lateral compartment osteoarthritis in patients with complete discoid meniscus, and the procedure should be used with caution in such patients. LEVEL OF EVIDENCE: IV.

Dynamic Lower Extremity Deformity in Children With Pseudoachondroplasia.

BACKGROUND: Pseudoachondroplasia is a diverse group of skeletal dysplasias with a common pathway of altered cartilage oligomeric matrix protein (COMP) production. This rhizomelic dwarfism is commonly associated with deformities of the lower extremities, accelerated osteoarthritis, and ligamentous laxity. One of the most common alignment problems is coronal knee angulation which combined with tibial torsion, results in a complex deformity. The outcome of surgical correction of these deformities is variable. METHODS: This study used 3-dimensional gait analysis to describe the kinematic deformities in 12 children (aged 3 to 15 y) and compared them to the static deformities measured on standing anteroposterior radiograph. RESULTS: Both gait analysis and radiographs showed large variability in the coronal deformities but strong correlation to each other. Gait analysis showed mean varus alignment of the knee to be 13.5±13.1 degrees; that mean is not statistically different from radiographs, which showed a mean varus of 16.2±17.1 degrees. The correlation coefficient between radiographic and kinematic measurement was 0.70. The kinematic internal tibial torsion measured an average 15±19 degrees, which was moderately correlated to knee varus (r=0.45, P<0.01). CONCLUSIONS: Measurements of varus-valgus alignment correlated well between gait analysis and radiographs. Tibial torsion correlated with varus. In the absence of gait analysis, anteroposterior standing leg length radiographs with the patella facing foreward can be used to assess deformity. As this study does not correlate these measurements to postoperative results, an appropriately powered prospective study and further investigation of biological effects of altered cartilage oligomeric matrix protein production are needed to explain the variable surgical outcomes. LEVEL OF EVIDENCE: Level IV-case series without control group).

Evaluation of the external fixator TrueLok Hexapod System for tibial deformity correction in children.

BACKGROUND: Tibial deformities are common in paediatric orthopaedic practice. Correcting multiplanar tibial deformities associated with lower limb length discrepancy can be challenging. Hexapod external fixation with gradual correction has been proven effective in this situation. OBJECTIVE: To assess clinical and radiological outcomes of gradual tibial deformity correction using the external fixator TL-HEX™ (Orthofix) in children. HYPOTHESIS: TL-HEX™ is effective in correcting tibial deformities in children. PATIENTS AND METHODS: This multicentre retrospective study collected data from the medical files of 26 patients with 31 tibial deformities treated by gradual correction using TL-HEX™. The tibial deformities were due to congenital defects in 11 (35%) cases, Blount's disease in 9 (29%) cases, pseudo-achondroplasia in 4 (13%) cases, and other causes in 7 (23%) cases. Mean age at surgery was 11.9 years. In each patient, antero-posterior long leg radiographs obtained pre-operatively and at last follow-up were used to measure parameters including the mechanical axis deviation (MAD), medial proximal tibia angle (MPTA), and leg length discrepancy (LLD). RESULTS: The mean healing index was 39.3 days/cm (range, 32-58 days/cm). The overall complication rate was 61%, with 11 unplanned visits. Superficial pin tract infection was the most common complication. Significant decreases between the pre-operative and post-operative assessments occurred in mean MAD (from 32.1mm to 10.2mm, P<0.001) and mean LLD (from 36.8mm to 9.1mm, P<0.001). Patients who underwent proximal tibial osteotomy had a significant improvement in MPTA, from 80.6° to 88.5° (P=0.006). DISCUSSION: This is the first clinical study specifically designed to assess outcomes of TL-HEX™ limb lengthening and deformity correction. MAD, MPTA, and LLD were significantly improved at last follow-up. MAD was greater than 10mm at last follow-up in only 11patients. The complication rate was similar to those reported with other external fixators. TL-HEX™ is effective in the management of tibial deformities in children. LEVEL OF EVIDENCE: IV (retrospective study).

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.

Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report.

BACKGROUND: The occurrence of an anorectal malformation with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it. CASE PRESENTATION: We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity. The infant had successful staged correction of her anorectal malformation but developed a metastatic Wilms' tumor and died before other corrective procedures could be instituted. CONCLUSIONS: An anorectal malformation is here reported to occur with Holt-Oram syndrome, an association that has not been reported previously. To enhance the prognosis and quality of life of children with syndromic anorectal malformation, prenatal ultrasound monitoring of high-risk pregnancies and expertise in prenatal detection of congenital anomalies are invaluable in antenatal care.

The management of the painful bipartite patella: a systematic review.

PURPOSE: This study aimed to identify the most effective method for the treatment of the symptomatic bipartite patella. METHODS: A systematic review of the literature was completed, and all studies assessing the management of a bipartite patella were included. Owing to the paucity of randomised controlled trials, a narrative review of 22 studies was completed. A range of treatments were assessed: conservative measures, open and arthroscopic fixation or excision and soft tissue release and excision. RESULTS: All of the methods provided results ranging from good to excellent, with acceptable complication rates. CONCLUSIONS: This is a poorly answered treatment question. No firm guidance can be given as to the most appropriate method of treating the symptomatic bipartite patella. This study suggests that there are a number of effective treatments with acceptable complication rates and it may be that treatments that conserve the patella are more appropriate for larger fragments. LEVEL OF EVIDENCE: IV.

Total knee arthroplasty in a patient with thrombocytopenia-absent radius syndrome.

Thrombocytopenia-absent radius (TAR) syndrome is a rare genetic condition with a complex inheritance pattern. This syndrome is classically characterized by hypomegakaryocytic thrombocytopenia as well as bilateral absent radii, shortened ulna, and radially deviated 5-digit hands. During infancy, the predominant manifestations are hemorrhagic complications. Later in life, the bleeding disorder typically improves, but the musculoskeletal abnormalities become of greater concern because of the effects on quality of life. Although the classic musculoskeletal manifestations of TAR syndrome involve the upper extremity, multiple lower-extremity abnormalities have been described, especially dysplasia of the knee. Knee abnormalities include genu varum, varying degrees of laxity or stiffness, patellar abnormalities, concave distal femur, convex medial tibial plateau, and/or absence of the anterior cruciate ligament and posterior cruciate ligament. Several management strategies for lower-extremity abnormalities in TAR syndrome have been described, especially for pediatric patients. Management strategies have not halted the natural progression of knee disease in these patients, and the effect that these knee abnormalities have in adulthood is unclear. Management of knee abnormalities in adults with TAR syndrome is poorly described in the current literature. The authors report a 59-year-old patient with TAR syndrome and knee abnormalities who underwent successful total knee arthroplasty. The patient was followed to the 3-year postoperative visit. At various postoperative time points (7 weeks, 6 months, 1 year, and 3 years), Knee Society Scores and 12-Item Short Form Health Survey scores were recorded. Radiographs obtained at each clinical visit showed well-positioned, well-fixed components. The authors concluded that total knee arthroplasty may be a safe and effective surgical intervention for adults with TAR syndrome and associated knee osteoarthritis.

[Outcomes of surgical correction of congenital tibia pseudarthrosis depending on the activation of HHV-6/HHV-7 viral infection in a child with neurofibromatosis type-1].

Neurofibromatosis type-1 (NF-1)--is a common genetic disease effecting the skin, subcutaneous tissue peripheral nerves and bones (tibia pseudarthrosis). Immunomodulatory viruses HHV-6 and HHV-7 are classifying as a genus of roseoloviruses of subfamily beta-herpesviruses. Reactivation of HHV-6 and HHV-7 inhibits immune system and indirectly promote to other infectious agents. The article deals with a unique case repot of two repeated transplantations of fibula due to congenital tibia pseudarthrosis caused by NF-1. Results of the transplantations, related to active and latent HHV-6 and HHV-7 infection in a 6 years old child are discussed in the paper.

Utilidad de la hemiepifisiodesis en el manejo del Genu Valgo en la osteodistrofia renal / Usefulness of hemiepiphysiodesis for the management of Genu valgum in renal osteodystrophy

Introducción: La osteodistrofia renal provoca desejes progresivos en los miembros inferiores, siendo la deformidad más frecuente el genu valgo. El crecimiento guiado (hemiepifisiodesis) es útil en la corrección de deformidades angulares en la edad pediátrica. El objetivo de este trabajo es evaluar los resultados y complicaciones de esta técnica quirúrgica aplicada a fisis patológicas. Materiales y métodos: Se presentan 11 pacientes (20 rodillas) con diagnóstico de insuficiencia renal crónica y genu valgo, tratados en nuestro servicio con hemiepifisiodesis transitoria. Se colocaron placas en 8 en 3 pacientes (5 rodillas) y en 8 pacientes, grapas (15 rodillas). Se evaluó el eje mecánico radiográfico pre y post operatorio y las complicaciones relativas a cada implante. Resultados: Se logró la corrección completa en 4 pacientes, 1 caso sobrellevó deformidad rebote, y en los restantes se obtuvo mejoría sin llegar a la normalización óptima del eje mecánico. Conclusiones: La corrección obtenida se relaciona claramente con la normalidad de la función renal. Los pacientes trasplantados consiguieron normalización en el crecimiento óseo remanente. No tuvimos diferencia en los resultados ni en las complicaciones entre los dos tipos de implantes empleados.

Multiple congenital ectatic and fusiform arterial aneurysms associated with lower limb hypoplasia.

Aneurysmal disease is uncommon in children, and its presence often leads to suspicion of genetic disorders (Loeys-Dietz syndrome, Marfan syndrome, Ehlers-Danlos syndrome, tuberous sclerosis), trauma, and infection. We describe the case of a newborn boy with generalized left lower limb hypoplasia associated with diffuse areas of arteriectasis combined with areas of stenosis and fusiform aneurysms of the iliac, femoral, and popliteal arteries. No additional vascular territories were affected. The patient was asymptomatic, and no therapeutic intervention has been considered. Numerous complementary imaging and laboratory examinations failed to establish a definitive diagnosis. This collection of findings has not been previously reported.

Recurrence of axial malalignment after surgical correction in congenital femoral deficiency and fibular hemimelia.

PURPOSE: Recurrent genu valgum deformity complicates treatment of congenital femoral deficiencies (CFD) and fibular hemimelia (FH). We analysed factors influencing recurrence. METHODS: Patients who underwent limb lengthening or deformity correction for CFD and/or FH were reviewed. Radiographs after surgery and after a minimum of a further six months were analysed. Change in parameters of mechanical axis deviation per month (∆ MAD/month) and of angle per month were calculated. These parameters were tested against cofactors patient age, baseline MAD, type of CFD and FH, severity of ball-and-socket joints, ankle-joint stiffness, absence of cruciate ligaments and resection of the fibular anlage. RESULTS: Recurrent valgus deformity was found in 23 of the 42 limbs included with a mean change of MAD of 23.4 mm (5-60 mm). There was no significant difference between patients with ∆ MAD/month <0.5 mm versus >1 mm regarding MAD in the first radiograph and patient age. CFD cases Pappas types VII and VIII showed a ∆ MAD/month of 1.6 mm, whereas milder cases of Pappas IX showed a ∆ MAD/month of 0.8. Mild FH (type Ia) showed a mean ∆ MAD/month of 0.39 mm, whereas mean ∆ MAD/month for FH type Ib/II was 0.72 mm. In FH type II cases, mean ∆ MAD/month was 0.79 mm after resection of the fibular anlage compared with 1.98 mm in those without resection. CONCLUSIONS: Recurrence in FH and CFD was not dependent on patient age but partly on FH and CFD type. Limbs with more severe ball-and-socket knee joints showed more recurrence. Overcorrection depending deformity type should be performed.

Holt-Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery.

The Holt-Oram syndrome was confirmed in an asymptomatic 36-year-old man by a novel TBX5-gene mutation (exon 8 acceptor splicing site, c.663-1G greater than A). Computed tomography showed an atrial septal defect and an anomalous right coronary artery crossing between the aorta and pulmonary arteries. Surgery corrected the septal defect and the initial segment of the anomalous vessel was unroofed and enlarged. Anomalous coronary arteries were not previously described in the Holt-Oram syndrome patients and should be added to the list of possible associated cardiac defects.

[Congenital fibromyxomatous hyperplasia of mitral and tricuspid valve leaflets in the newborn].

The paper describes a clinicoanatomic case of two deceased neonates with fibromyxomatous hyperplasia of mitral and tricuspid valve leaflets with vascular malformations of the lung, lower extremity, spermatic cord, and thrombotic and hemorrhagic complications. The cases are considered in the context of congenital connective tissue dysplasia.

Recognition of caudal regression syndrome.

Caudal regression syndrome, also referred to as caudal dysplasia and sacral agenesis syndrome, is a rare congenital malformation characterized by varying degrees of developmental failure early in gestation. It involves the lower extremities, the lumbar and coccygeal vertebrae, and corresponding segments of the spinal cord. This is a rare disorder, and true pathogenesis is unclear. The etiology is thought to be related to maternal diabetes, genetic predisposition, and vascular hypoperfusion, but no true causative factor has been determined. Fetal diagnostic tools allow for early recognition of the syndrome, and careful examination of the newborn is essential to determine the extent of the disorder. Associated organ system dysfunction depends on the severity of the disease. Related defects are structural, and systematic problems including respiratory, cardiac, gastrointestinal, urinary, orthopedic, and neurologic can be present in varying degrees of severity and in different combinations. A multidisciplinary approach to management is crucial. Because the primary pathology is irreversible, treatment is only supportive.

Isolated congenital anterolateral bowing of the fibula: a case report with 24 years follow-up.

Only very few cases of congenital anterolateral bowing of the fibula have been described in literature. We report a girl with congenital anterolateral bowing of the fibula with a 24 year follow-up. Asymptomatic bowing of her left leg below the knee was noted at the age of three years. Radiographs showed an isolated anterolateral bowing of the fibula with a normal ipsilateral tibia. Supervised neglect was advised. A spontaneous fracture occurred one year later. A shortening osteotomy resulted in solid consolidation of the fracture. At the age of 27 years the deformity had progressed into a two-level fracture of the fibular diaphysis with pseudoarthrosis. The segment in-between the fractures was resected. Following this, the patient returned to a normal level of activities in just a matter of weeks. She could even participate in recreational tennis six weeks after surgery and was then discharged from the outpatient clinic. Isolated congenital anterolateral bowing of the fibula is a very rare condition and there is no consensus on its treatment. In this case, removal of the painful pseudarthrotic fragment of the fibula led to a good result.