Neglected intrauterine bilateral congenital knee dislocation.

Bilateral congenital knee dislocation is a rare deformity which may present with other musculoskeletal abnormalities. In the early period, conservative treatment options have a high chance of success. However, in later stages, surgical treatment is indicated in neglected or unresponsive cases to manipulation in the early period. Herein, we present a rare case of bilateral congenital knee dislocation which was diagnosed after birth. Retrospective examination revealed that it occurred in the antenatal period and neglected.

Proximal femoral focal deficiency - a rare congenital entity: two case reports and a review of the literature.

BACKGROUND: Proximal femoral focal deficiency is an extremely rare congenital anomaly with an incidence of 1.1-2.0 in 100,000 live births. It is a dysplastic phenomenon with predilections for the proximal two-thirds of the femur leading to limb length discrepancies. We report two cases of proximal femoral focal deficiency, which is a rare entity. CASE PRESENTATIONS: Case 1 A 4.5-month-old baby Annang tribe girl was referred in April 2019 to our Radiology Department, University of Uyo Teaching Hospital, Nigeria for lower limb radiographs. This was on account of her shortened left lower limb from birth despite uneventful antenatal history. An examination revealed bulky left thigh with abduction of her left hip joint. Radiographic evaluations showed absent left femoral capital epiphysis, with deficient proximal left femur. A diagnosis of proximal femoral focal deficiency was made. Sadly, the parents and baby failed to honor future orthopedic consultations on intimation of sequential management protocols. Case 2 A 4-month-old baby Ibibio tribe girl was similarly referred in August 2019 to the same Radiology Department for lower limb conventional radiographs due to short left lower limb that was noticed from birth. An examination showed shortened left lower limb in external rotation. Her right and left lower limbs measured 27 cm and 23 cm, respectively, with landmark taken from anterior superior iliac spine to tip of medial malleolus. A diagnosis of proximal femoral focal deficiency was made. Corroborating radiographs showed shortened and hypoplastic left femoral shaft but preserved femoral capital epiphysis. Coincidentally, the parents have not brought back their baby to our orthopedic clinic. CONCLUSIONS: The discovery of two cases of proximal femoral focal deficiency, a rare entity, from referrals for conventional radiography in our Radiology Department encourages literature documentation. Such recognition will facilitate early institution of management, thus ensuring meaningful childhood growth.

First-trimester sonographic diagnosis of sirenomelia: A multicenter series of 12 cases and review of the literature.

OBJECTIVE: To determine the key sonographic features for the diagnosis of sirenomelia in the first trimester of pregnancy. METHODS: Cases of sirenomelia from several prenatal diagnosis centers were retrospectively identified and reviewed. The diagnosis was established through the detection of fused lower limbs. Additional sonographic findings were also noted. RESULTS: A total of 12 cases were collected. The most striking sonographic finding was the detection of malformed lower limbs, which appeared to be fused and in an atypical position. Nuchal translucency thickness was mildly increased in three cases (25%). An abdominal cyst, representing the dilated blind-ending bowel, was noted in seven cases (58%). Color flow imaging detected a single umbilical artery in six cases (50%) and the associated intra-abdominal vascular anomalies in three cases (25%). No cases of aneuploidy were detected. The pregnancy was terminated in nine cases (75%) and intrauterine demise occurred in the remaining three cases (25%). CONCLUSIONS: The sonographic detection of abnormal lower limbs or an intra-abdominal cyst located laterally during the first-trimester scan may be warning signs of sirenomelia. This should prompt a detailed examination of the fetal lower body and intra-abdominal anatomy, including the main abdominal vessels, in order to look for additional confirmatory findings.

Myelomeningocele sac associated with worse lower-extremity neurological sequelae: evidence for prenatal neural stretch injury?

OBJECTIVE: To determine whether the presence of a myelomeningocele (MMC) sac and sac size correlate with compromised lower-extremity function in fetuses with open spinal dysraphism. METHODS: A radiology database search was performed to identify cases of MMC and myeloschisis (MS) diagnosed prenatally in a single center from 2013 to 2017. All cases were evaluated between 18 and 25 weeks. Ultrasound reports were reviewed for talipes and impaired lower-extremity motion. In MMC cases, sac volume was calculated from ultrasound measurements. Magnetic resonance imaging reports were reviewed for hindbrain herniation. The association of presence of a MMC sac and sac size with talipes and impaired lower-extremity motion was assessed. Post-hoc analysis of data from the multicenter Management of Myelomeningocele Study (MOMS) randomized controlled trial was performed to confirm the study findings. RESULTS: In total, 283 MMC and 121 MS cases were identified. MMC was associated with a lower incidence of hindbrain herniation than was MS (80.9% vs 100%; P < 0.001). Compared with MS cases, MMC cases with hindbrain herniation had a higher rate of talipes (28.4% vs 16.5%, P = 0.02) and of talipes or lower-extremity impairment (34.9% vs 19.0%, P = 0.002). Although there was a higher rate of impaired lower-extremity motion alone in MMC cases with hindbrain herniation than in MS cases, the difference was not statistically significant (6.6% vs 2.5%; P = 0.13). Among MMC cases with hindbrain herniation, mean sac volume was higher in those associated with talipes compared with those without talipes (4.7 ± 4.2 vs 3.0 ± 2.6 mL; P = 0.002). Review of the MOMS data demonstrated similar findings; cases with a sac on baseline imaging had a higher incidence of talipes than did those without a sac (28.2% vs 7.5%; P = 0.007). CONCLUSIONS: In fetuses with open spinal dysraphism, the presence of a MMC sac was associated with fetal talipes, and this effect was correlated with sac size. The presence of a larger sac in fetuses with open spinal dysraphism may result in additional injury through mechanical stretching of the nerves, suggesting another acquired mechanism of injury to the exposed spinal tissue. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Precise Resection of Macrodactyly Under Assistance of Three-Dimensional Reconstruction Technology: A Case Report.

Macrodactyly of the foot is an extremely rare congenital malformation characterized by an increase in the size of all the elements or structures of a digit or digits. Most sources indicate that macrodactyly affects the hand more often than the foot. This rare medical condition usually requires surgical intervention with a precise preoperative plan and postoperative rehabilitation. We present a case of macrodactyly of the right foot in which surgical reduction of the foot under assistance of 3-dimensional image technology was performed with satisfying cosmetic and functional outcomes.

The risks following the exposure to radiation associated with the surgical correction of limb deformities in children are minimal.

AIMS: The aim of this study was to quantify the risk of developing cancer from the exposure to radiation associated with surgery to correct limb deformities in children. PATIENTS AND METHODS: A total of 35 children were studied. There were 19 girls and 16 boys. Their mean age was 11.9 years (2 to 18) at the time of surgery. Details of the radiological examinations were recorded during gradual correction using a Taylor Spatial Frame. The dose area product for each radiograph was obtained from the Computerised Radiology Information System database. The effective dose in millisieverts (mSv) was calculated using conversion coefficients for the anatomical area. The lifetime risk of developing cancer was calculated using government-approved Health Protection Agency reports, accounting for the age and gender of the child. RESULTS: Correction was undertaken in five femurs, 18 tibiae, and 12 feet. The median duration of treatment was 45 months (11 to 118). The mean effective dose was 0.31 mSv (0.05 to 0.64) for the femur, 0.29 mSv (0.01 to 0.97) for the tibia, and 0.027 mSv (0.001 to 0.161) for the foot. The cumulative exposure gave 'negligible' risk in 26 children and 'minimal' risk in nine children, according to Public Health England categories. These results are below the mean annual background radiation in the United Kingdom. CONCLUSION: The lifetime attributable risk of developing cancer from repeated exposure to radiation was negligible or minimal in all children. This is the first study to quantify the exposure to radiation from serial radiographs in children with limb deformities who are treated surgically using circular external fixation, linking this to the risk of developing cancer. Cite this article: Bone Joint J 2019;101-B:241-245.

Standardization of torsional CT measurements of the lower limbs with threshold values for corrective osteotomy.

INTRODUCTION: Re-establishing anatomic rotational alignment of shaft fractures of the lower extremities remains challenging. Clinical evaluation in combination with radiological measurements is important in pre- and post-surgical assessment. Based on computed tomography (CT), a range of reference values for femoral torsion (FT) and tibial torsion (TT) have historically been reported, which require standardization to optimize the significant intra- and inter-observer variability. The aims of this study were (re-)evaluation of the reference FT and TT angles, determination of the normal intra-individual side-to-side torsional differences to aid the surgical decision-making process for reoperation, and development of a novel 3D measurement method for FT. MATERIALS AND METHODS: In this retrospective study, we included 55 patients, without any known torsional deformities of the lower extremities. Two radiologists, independently, measured the rotational profile of the femora using the Hernandez and Weiner CT methods for FT, and the tibiae using the bimalleolar method for TT. The intra-individual side-to-side difference in paired femora and paired tibiae was determined. A 3D technique for FT assessment using InSpace® was designed. RESULTS: FT and TT demographic values were lower than previously reported, with mean FT values of 5.1°-8.8° and mean TT values of 25.5°-27.7°. Maximal side-to-side differences were 12°-13° for FT and 12° for TT. The Weiner method for FT was less variable than the Hernandez method. The new 3D method was equivocal to the conventional CT measurements. CONCLUSION: The results from this study showed that the maximal side-to-side tolerance in asymptomatic normal adult lower extremities is 12°-13° for FT and 12° for TT, which could be a useful threshold for surgeons as indication for revision surgery (e.g., derotational osteotomy). We developed a new 3D CT method for FT measurement which is similar to 2D and could be used in the future for virtual 3D planning.

Coronal plane alignment of the lower limbs in patients with unilateral developmental hip dislocation.

PURPOSE: We aimed to identify the coronal plane alignment of lower limbs in patients with unilateral developmental hip dislocation (UDHD) and observe the difference between Hartofilakidis type II and III. PATIENTS AND METHODS: The radiographic data of 76 patients who met the inclusion criteria were retrospectively reviewed, including the hip-knee-ankle angle (HKA), mechanical lateral distal femoral angle (mLDFA), anatomical lateral distal femoral angle (aLDFA), mechanical proximal tibial angle (MPTA), and lateral distal tibial angle (LDTA). RESULTS: The valgus alignment on ipsilateral side was most frequently seen in both Hartofilakidis type II (51.3%) and type III groups (67.6%), whereas for the contralateral side, the neutral alignment in type II group (69.2%) and varus alignment in type III group (51.4%) were most commonly observed. Both the mLDFA and aLDFA of the ipsilateral side were significantly smaller than the contralateral side. CONCLUSIONS: UDHD patients may present with lower limb malalignment on both sides. The ipsilateral valgus alignment is the most common deformity. On the contralateral side, Hartofilakidis type III patients may be more prone to be varus than type II patients. The lower limb malalignment and deformity of the ipsilateral distal femur should be considered during surgery involving hip, knee, or femur.

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).

Lower-limb lengths and angles in children older than six years: Reliability and reference values by EOS® stereoradiography.

BACKGROUND: Lower-limb alignment in children is classically assessed clinically or based on conventional radiography, which is associated with projection bias. Low-dose biplanar radiography was described recently as an alternative to conventional imaging. The primary objective of this study was to assess the reliability of length and angle values inferred from 3D reconstructions in children seen in everyday practice. The secondary objective was to obtain reference values for goniometry parameters in children. HYPOTHESIS: 3D reconstructions can be used to assess the lower limbs in children. MATERIAL AND METHODS: The paediatric reliability study was done in 18 volunteers who were divided into three groups based on whether they were typically developing (TD) children, had skeletal development abnormalities, or had cerebral palsy. The reference data were obtained in 129 TD children. Each study participant underwent biplanar radiography with 3D reconstruction performed by experts and radiology technicians. Goniometry parameters were computed automatically. Reproducibility was assessed based on the intra-class coefficient (ICC) and the ISO 5725 standard (standard deviation of reproducibility, SDR). RESULTS: For length parameters, the ICCs ranged from 0.94 to 1.00 and the SDR from 2.1 to 3.5mm. For angle parameters, the ICC and SDR ranges were 0.60-0.95 and 0.9°-4.6°, respectively. No significant differences were found across experts or radiology technicians. Age-specific reference data are reported. DISCUSSION: These findings confirm the reliability of low-dose biplanar radiography for assessing lower-limb parameters in children seen in clinical practice. In addition, the study provides reference data for commonly measured parameters. LEVEL OF EVIDENCE: IV.

[Treatment principles in bone reconstruction and limb lengthening of the lower extremity].

Limb length discrepancies, axis deviations and bone loss on a congenital, traumatic or infectious basis are treated with restoration of axis and bone elongation. The intention is to improve gait and function, to relieve pain caused by imbalance in the musculoskeletal system and to prevent degenerative joint disease. Modern motorized intramedullary nails spare the patients for external fixators, and thus complications are being reduced. X-ray, CT-based planning and a thorough clinical examination is essential for a good result. Complications are frequent, and treatment can be lengthy. Modern techniques have made treatment more gentle and allow a normal daily life during treatment and rehabilitation.

Caudal Regression Syndrome with Bilateral Microtia.

Caudal regression syndrome (CRS) is a very rare and unusual disorder affecting the lower part of the body along with multiple systems'involvement. It is mostly found in association with maternal diabetes mellitus during pregnancy; but there is a rare familial form of the disorder, as well. We describe a newborn who presented with the classic clinical and radiologic features of CRS along with bilateral microtia. Our search of the available English language literature did not reveal any such association of CRS with microtia.

Preoperative Assessment for Complex Lower Limb Deformity.

Successful limb reconstruction surgery not only relies on surgical skill but probably more on assessment and planning before intervention. A clear appreciation of the child as a whole, an understanding of natural history and the ability to carefully evaluate the patient clinically are key to successful treatment. The appropriate use of investigations and the ability to analyze, plan and execute a treatment plan is challenging and requires experience and training. This paper outlines some of the steps required to assess the patient with a complex limb deformity.

Limb lengthening and deformity correction of congenital and acquired deformities in children using the Taylor Spatial Frame.

Background and purpose - Hexapod ring fixators such as the Taylor Spatial Frame (TSF) have shown good outcomes. However, there have only been a few studies comparing the use of TSF with various etiologies of the deformity. We compared the use of TSF in congenital and acquired deformities in children. Patients and methods - We reviewed 213 lower extremity reconstructive procedures with the TSF in 192 patients who were operated between October 2000 and October 2015. 128 procedures (67 proximal tibiae, 51 distal femora, and 10 distal tibiae) in 117 children (median age 14 (4-18) years; 59 girls) fulfilled the inclusion criteria. 89 procedures were done in children with congenital deformities (group C) and 39 were done in children with acquired deformities (group A). Outcome parameters were lengthening and alignment achieved, lengthening index, complications, and analysis of residual deformity in a subgroup of patients. Results - Mean lengthening achieved was 3.9 (1.0-7.0) cm in group C and 3.7 (1.0-8.0) cm in group A (p = 0.5). Deformity parameters were corrected to satisfaction in all but 3 patients, who needed further surgery for complete deformity correction. However, minor residual deformity was common in one-third of the patients. The mean lengthening index was 2.2 (0.8-10) months/cm in group C and 2.0 (0.8-6) months/cm in group A (p = 0.7). Isolated analysis of all tibial and femoral lengthenings showed similar lengthening indices between groups. Complication rates and the need for secondary surgery were much greater in the group with congenital deformities. Interpretation - The TSF is an excellent tool for the correction of complex deformities in children. There were similar lengthening indices in the 2 groups. However, congenital deformities showed a high rate of complications, and should therefore be addressed with care.

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).

Computer hexapod-assisted orthopaedic surgery provides a predictable and safe method of femoral deformity correction.

AIMS: Computer hexapod assisted orthopaedic surgery (CHAOS), is a method to achieve the intra-operative correction of long bone deformities using a hexapod external fixator before definitive internal fixation with minimally invasive stabilisation techniques. The aims of this study were to determine the reliability of this method in a consecutive case series of patients undergoing femoral deformity correction, with a minimum six-month follow-up, to assess the complications and to define the ideal group of patients for whom this treatment is appropriate. PATIENTS AND METHODS: The medical records and radiographs of all patients who underwent CHAOS for femoral deformity at our institution between 2005 and 2011 were retrospectively reviewed. Records were available for all 55 consecutive procedures undertaken in 49 patients with a mean age of 35.6 years (10.9 to 75.3) at the time of surgery. RESULTS: Patients were assessed at a mean interval of 44 months (6 to 90) following surgery. The indications were broad; the most common were vitamin D resistant rickets (n = 10), growth plate arrest (n = 6) and post-traumatic deformity (n = 20). Multi-planar correction was required in 33 cases. A single level osteotomy was performed in 43 cases. Locking plates were used to stabilise the osteotomy in 33 cases and intramedullary nails in the remainder. Complications included two nonunions, one death, one below-knee deep vein thrombosis, one deep infection and one revision procedure due to initial under-correction. There were no neurovascular injuries or incidence of compartment syndrome. CONCLUSION: This is the largest reported series of femoral deformity corrections using the CHAOS technique. This series demonstrates that precise intra-operative realignment is possible with a hexapod external fixator prior to definitive stabilisation with contemporary internal fixation. This combination allows reproducible correction of complex femoral deformity from a wide variety of diagnoses and age range with a low complication rate. Cite this article: Bone Joint J 2017;99-B:283-8.

Failure of tension band plating: a case series.

Growth modulation with tension band plates (TBP) has been shown to be a very useful method for the treatment of angular deformities in growing children. Recently, we have observed cases of failure where the epiphyseal screw was drawn through the physis into the metaphysis. This study describes a series of children who developed this complication. Patients who developed TBP failure after operative treatment of lower limb angular deformities were identified from the databases at four institutions over a 5-year period. The medical records were reviewed to record demographics, primary diagnoses, details of the operative procedure, development of physeal arrest, and recurrence of the original deformity. Six patients (five girls) with nine implant failures were identified. The mean age of the children at the time of implant insertion was 7.2 years (range, 4-10 years). The primary diagnoses included hypophosphatemic rickets (n=7), congenital pseudoarthrosis of the tibia associated with neurofibromatosis 1 (n=1), and post-traumatic malunion after distal tibial fracture (n=1). Of the nine TBP that presented with the complication, four were inserted into the medial distal femur (one bilateral case), two into the medial proximal tibia (one bilateral case), two into the lateral distal tibia, and one into the medial distal tibia. None of these patients developed physeal growth arrest at the last follow-up as assessed on the latest radiographs. The use of TBP for guided growth in patients younger than 10 years old with rickets, neurofibromatosis, or other conditions that produce osteopenia leads to an increased risk for implant failure. In these cases, it is important to confirm that the epiphyseal screw has good purchase. Patients with these features should be monitored closely for early detection of this complication.

The Tibial Slope in Patients With Achondroplasia: Its Characterization and Possible Role in Genu Recurvatum Development.

BACKGROUND: Genu recurvatum, a posterior resting position of the knee, is a common lower extremity deformity in patients with achondroplasia and has been thought to be secondary to ligamentous laxity. To the best of our knowledge, the role of the tibial slope has not been investigated, and no studies describe the tibial slope in patients with achondroplasia. Our goals were to characterize the tibial slope in children and adults with achondroplasia, explore its possible role in the development of genu recurvatum, and compare the tibial slope in patients with achondroplasia to that in the general population. METHODS: We reviewed 252 lateral knee radiographs of 130 patients with achondroplasia seen at our clinic from November 2007 through September 2013. Patients were excluded if they had previous lower extremity surgery or radiographs with extreme rotation. We analyzed patient demographics and, on all radiographs, the tibial slope. We then compared the mean tibial slope to norms in the literature. Tibial slopes >90 degrees had an anterior tibial slope and received a positive prefix. Statistical analysis included intraclass and interclass reliability, Pearson correlation coefficient, and the Student t tests (significance, P<0.05). RESULTS: The overall mean tibial slope for the 252 knees was +1.32±7 degrees, which was significantly more anterior than the normal slopes reported in the literature for adults (7.2 to 10.7 degrees, P=0.0001) and children (10 to 11 degrees, P=0.0001). The Pearson correlation coefficient for mean tibial slope and age showed negative correlations of -0.4011 and -0.4335 for left and right knees, respectively. This anterior tibial slope produces proximal and posterior vector force components, which may shift the knee posteriorly in weightbearing. CONCLUSIONS: The mean tibial slope is significantly more anterior in patients with achondroplasia than in the general population; however, this difference diminishes as patients' age. An anterior tibial slope may predispose to a more posterior resting knee position, also known as genu recurvatum. LEVEL OF EVIDENCE: Level IV-retrospective case series.