The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohort of 89 families with the clinical sign of arthrogryposis. Additional molecular techniques including array comparative genomic hybridization (aCGH) and Droplet Digital PCR (ddPCR) were performed on individuals who were found to have pathogenic copy number variants (CNVs) and mosaicism, respectively. A molecular diagnosis was established in 65.2% (58/89) of families. Eleven out of 58 families (19.0%) showed evidence for potential involvement of pathogenic variation at more than one locus, probably driven by absence of heterozygosity (AOH) burden due to identity-by-descent (IBD). RYR3, MYOM2, ERGIC1, SPTBN4, and ABCA7 represent genes, identified in two or more families, for which mutations are probably causative for arthrogryposis. We also provide evidence for the involvement of CNVs in the etiology of arthrogryposis and for the idea that both mono-allelic and bi-allelic variants in the same gene cause either similar or distinct syndromes. We were able to identify the molecular etiology in nine out of 20 families who underwent reanalysis. In summary, our data from family-based ES further delineate the molecular etiology of arthrogryposis, yielded several candidate disease-associated genes, and provide evidence for mutational burden in a biological pathway or network. Our study also highlights the importance of reanalysis of individuals with unsolved diagnoses in conjunction with sequencing extended family members.

The critical shoulder angle, the acromial index, the glenoid version angle and the acromial angulation are associated with rotator cuff tears.

PURPOSE: To compare the critical shoulder angle (CSA), acromion index (AI), acromion angulation (AA) and glenoid version angle (GVA) between patients with full-thickness rotator cuff tears (RCTs) and patients with intact rotator cuffs. METHODS: Between 2014 and 2018, the CSA, AI, AA and GVA were measured in consecutively included patients aged > 40 years who underwent shoulder arthroscopy for full-thickness RCTs. A total of 437 patients with RCTs and a mean age of 51.2 years (± 5.8) were included, 35.7% of whom were male. In the control group, there were n = 433 patients (36.3% male) with an intact rotator cuff, and the mean age was 50.7 years (± 5.3). RESULTS: The mean AI for the RCT group was 0.7 ± 0.1, which was significantly higher than the mean AI for the control group (0.6 ± 0.1, p < 0.001). The mean CSA for the RCT group was 33.6° ± 3.9°, which was significantly higher than the mean CSA for the control group (31.5° ± 4°, p < 0.001). The mean AA for the RCT group was 13.9° ± 9°, which was significantly higher than the mean AA for the control group (12.4 ± 8.6, p = 0.012). The mean GVA for the RCT group was - 3.5° ± 4.6° and significantly retroverted compared with the mean GVA for the control group (- 2.2° ± 4.6°, p < 0.001). The cutoff values determined by the ROC curve analyses were as follows: 0.6 for AI, 31.4° for CSA, 9.6° for AA and - 2.6° for GVA. CONCLUSION: The CSA, AI, GVA and AA values measured by MRI were determined to be significantly related to full-thickness rotator cuff ruptures. The AI, CSA, AA and GVA may be considered risk factors for degenerative rotator cuff tears. Assessing the CSA, AI, GVA and AA can be helpful for diagnostic evaluation of patients with full-thickness RCTs. LEVEL OF EVIDENCE: III.

Location of Femoral Vessels Around the Acetabulum in Crowe Type 4 Dysplastic Hips.

BACKGROUND: There are anatomical differences in the femur and acetabulum on the dysplastic hips. Yet, although there are detailed researches on bony structure differences, studies regarding anatomical differences for the vascular structure are insufficient. The study aimed to determine the relationship between the femoral artery and vein with acetabulum in computed tomography evaluation of Crowe type 4 hips and to compare with normal hip femoral vein and artery anatomic position. METHODS: Forty patients with one side hip Crowe type 4 deformity and opposite side normal hip were found suitable for the study. Pelvis CT was previously applied to all patients for the planning of total hip arthroplasty surgery. Normal hip acetabulum and the true acetabulum of the dysplastic hip were marked with the Ranawat's triangle and were then divided into quarters with four axial slices of the acetabulum; as dome, proximal one-fourth, center, and distal three-fourths. The shortest distance from the femoral vessels to the pelvis was measured at these 4 axial slices at the dysplastic side and compared with the healthy side. RESULTS: The distance of the vein to the acetabulum is closer to the dysplastic side. At distal three-fourths of Ranawat's triangle axial images, both femoral artery and femoral vein are closer to acetabulum at the dysplastic side. CONCLUSION: The analysis of preoperative images in cases of Crowe type 4 hip shows that the femoral vessels are closer to the anterior wall of the dysplastic true acetabulum at the level of the center of the hip (vein, mean: 2.7 mm closer) and below the center of the hip (vein, mean: 3 mm; and artery, mean: 3.3 mm closer) when compared with the normal acetabulum. Anatomic relationships knowledge can be used intraoperatively to avoid iatrogenic vascular injury during Crowe type 4 dysplastic hip arthroplasty surgery.

Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.

BACKGROUND: Coxa vara has been frequently reported in spondyloepiphyseal dysplasia congenita (SEDC), and proximal femoral osteotomy has been described as a useful treatment. The aim of this study was to discuss the clinical, radiographic, and gait outcomes after valgus extension osteotomy of the proximal femur. Changes of lumbar lordosis, associated with coxa vara correction, are reported as well as the outcome differences between different ages. METHODS: Records of children with SEDC, who were followed at our institution between 2004 and 2014, were reviewed; and children had hip surgery were identified. Hip pain and passive range of motion, radiographic neck shaft angle (NSA), and Hilgenreiner trochanteric (H-T) angle, sagittal spinopelvic parameters, and gait data were recorded. Preoperative and last follow-up data were compared. Outcomes were also compared between 3 age groups. RESULTS: Of the 79 children with SEDC, 26 children (12 boys and 14 girls) had hip osteotomy in 48 hips. Mean age at surgery was 9.6 years and the mean follow-up was 5 years. Preoperative hip pain was noted in 30 hips. At the last follow-up, 3 hips were painful at the extreme range of motion. Passive range of motion, NSA, and H-T improved postoperatively. Although NSA was maintained over the follow-up, H-T deterioration was noted. Spinopelvic measurements changed significantly and gait data remained stable except pelvic tilt that reduced significantly after surgery. The changes of radiographic measurements in each age group were similar to the total group of patients. CONCLUSIONS: In children with SEDC, surgical correction of coxa vara, by proximal femoral valgus osteotomy, is an effective treatment that improves hip pain and range of motion in addition to the radiographic alignment of the proximal femur and the sagittal spinopelvic alignment. Children are expected to maintain their level of function after surgery and to have good results over the midterm regardless of their age at surgery. LEVEL OF EVIDENCE: Level IV-therapeutic study.

Tibial tubercle-trochlear groove distance and angle are higher in children with patellar instability.

PURPOSE: The purpose of this study was to assess the variations in tibial tubercle-trochlear groove distance and angle as a function of age and gender in a population of children without patellar instability (PI) compared with those with PI. METHODS: A retrospective review of 869 children's knee MRIs, ages 5 to 15 years, were evaluated using a control group (792 children) without evidence of PI and a group with PI (77 children). Tibial tubercle-trochlear groove distance (TT-TGd) and angle (TT-TGa) were measured twice by two readers to assess intra- and inter-observer reliability and compared between PI and control groups. In both groups, functions of age and gender on TT-TGd and TT-TGa values were evaluated. RESULTS: Both TT-TGd and TT-TGa measurements showed excellent intra- and inter-observer reliability. The mean TT-TGd for the PI group was 17.2 mm (SD 6.6) and significantly higher than the mean TT-TGd for the control group (10.4 SD 3.8 mm, P = 0.001). The mean TT-TGa for the PI was 20.8° (SD 8.3°), which was also significantly higher than the mean TT-TGa for the control group (12.5° SD 4.6°, P < 0.001). Control group revealed a positive correlation between age and TT-TGd measurements (r = 0.243, P < 0.001). The mean TT-TGa for girls (13.3° SD 4.7°) was higher than the mean TT-TGa for boys (11.9° SD 4.4°) in the control group (P < 0.001). CONCLUSION: TT-TGa and TT-TGd are reliable and can be used for the evaluation of the extansor mechanism alignment in children with and without PI. However, it must be considered that TT-TGd is increasing in growing patients. Soft-tissue procedures may be prone to failure, since bony procedures for patellar alignment cannot be done until skeletal maturity. LEVEL OF EVIDENCE: III.

The Effect of Previous Hip Surgery on the Outcome of Hip Arthroplasty in Young Patients.

BACKGROUND: The incidence of total hip arthroplasty (THA) is increasing in all age groups, especially in young patients. The outcome of THA is believed to be affected by morphological deformities created by previous pelvic or femoral procedures performed in childhood. The aim of the present study was to assess whether previous hip surgery impaired the functional outcome in young patients who underwent THA. METHODS: Data were collected from the records of patients aged less than 30 years who had undergone THA between 2002 and 2011. Thirty-five patients (44 hips) were included. The Western Ontario and McMaster Universities Osteoarthritis Index and Harris Hip Scores were collected as primary functional outcome measures. The secondary outcome measures were the major and minor complications. Patients were divided into 2 groups: those who had not undergone hip surgery before THA (group I, 17 patients, 24 hips) and those with a history of prior hip surgery (group II, 18 patients, 20 hips). RESULTS: The mean age at the time of surgery was 25 ± 4 years in group I and 23 ± 4 years in group II. The mean Harris Hip Score was slightly higher in group I (90 ± 7) than in group II (87 ± 7) (P = .2). The mean Western Ontario and McMaster Universities Osteoarthritis Index scores were similar in both groups (in group I 14 ± 7 and in group II 14 ± 6, P = .9). Complication rates were also similar in both groups (P = .7). CONCLUSIONS: It is often difficult to decide whether to perform THA in young patients. One potential risk factor for complications is hip surgery before THA. Our study revealed that young patients with or without a history of previous hip surgery achieved satisfactory functional outcomes with similar complication rates after THA.

Comparing Percutaneous Physeal Epiphysiodesis and Eight-Plate Epiphysiodesis for the Treatment of Limb Length Discrepancy.

BACKGROUND: Either percutaneous or eight-plate epiphysiodesis have been shown to be effective growth modulation techniques for the treatment of limb length discrepancies (LLD). However, few studies compared the outcomes of both techniques with some confounding results. The aim of this study was to evaluate the outcomes of the both techniques in the treatment of the LLD. METHODS: Between 2004 and 2012, medical records of all cases that underwent either eight-plate or percutaneous epiphysiodesis (PE) were reviewed. Age at surgery, sex, diagnosis, surgical site (proximal tibia/distal femur), time of follow-up, complications, and additional procedures were noted. Correction of the LLD was evaluated to calculate the rate of correction and the percentage of improvement from the long-leg standing x-rays or scanograms, collected at each visit. RESULTS: There were 24 patients in the eight-plate (10 girls and 14 boys) and 48 patients in the PE group (28 girls and 20 boys). No statistically significant difference was found in the age, sex, preoperative LLD, or follow-up between groups. Both groups reached to an average LLD below 2 cm. The percentage of improvement was significantly higher in the PE group (P=0.031). The rate of individual femoral and tibial correction did not differ between the groups. CONCLUSIONS: Both methods are shown to be effective for LLD correction. However, PE led to greater improvement during the same follow-up time with fewer complications and less need for additional surgical procedures.

Long-term Outcome of Internal Tibial Derotation Osteotomies in Children With Cerebral Palsy.

BACKGROUND: External tibial torsion (ETT) is a common bony deformity in children with cerebral palsy (CP). The current recommended treatment is tibial derotation osteotomy (TDO) to improve gait biomechanics. Satisfactory short-term results after TDO have been reported but long-term results have not been studied. The purpose of this study was to evaluate the long-term outcome following TDO to correct ETT in ambulatory children with CP. METHODS: Following IRB approval, gait kinematics and passive range of motion measurements were retrospectively evaluated in children with spastic CP who underwent TDO due to ETT comparing preoperative (E0), short-term postoperative (E1; 1 to 3 y post), and long-term postoperative (E2; >5 y post) results. Limbs were categorized as corrected, undercorrected, or overcorrected at both E1 and E2, by comparing mean tibial rotation (MTR) in gait to a group of typically developing children. Age at surgery, E0 MTR, E0 gait velocity, gross motor function classification system (GMFCS) score, and foot deformity were evaluated to determine their influence on long-term results. RESULTS: The study sample consisted of 43 legs (with E0 and E2) and 22 legs (with E0, E1, and E2). The mean age at surgery was 10.3±3.4 years (range, 6 to 19.2 y). In the group MTR trended toward improvement moving from -26±17 degrees (E0, external negative) to -16±16 degrees (E1) and relapsed to -23±17 degrees at the long term (P=0.071, E0/E1; P=0.589, E0/E2). Improvement was also seen in the transmalleolar axis (P=0.074), mean ankle rotation, and mean foot orientation (P<0.05, E0/E2). At the long-term evaluation, 16 legs (37%) were found to be in the kinematic corrected group, 25 legs (58%) in the kinematic undercorrected group, and 2 legs (5%) in the kinematic overcorrected group. There were no significant differences between the corrected and undercorrected groups of children with respect to age at surgery, GMFCS, E0 MTR, gait velocity, or foot deformity. CONCLUSIONS: Although internal TDO improves ETT in the short term, recurrence is frequent with an apparent developmental trend toward external rotation of the tibia. LEVELS OF EVIDENCE: Level IV-therapeutic study.

Long-term Outcome of External Tibial Derotation Osteotomies in Children With Cerebral Palsy.

BACKGROUND: Internal tibial torsion (ITT) is a common boney deformity in children with cerebral palsy (CP). The current recommended treatment is tibial derotation osteotomy (TDO) to improve gait biomechanics. Satisfactory short-term results after TDO have been reported but long-term results have not been studied. The purpose of this study was to evaluate the long-term outcome after external TDO performed to correct ITT in ambulatory children with CP. METHODS: Following IRB approval, gait kinematics and passive range of motion measurements were retrospectively evaluated in children with spastic CP who underwent TDO due to ITT comparing preoperative (E0), short-term postoperative (E1; 1 to 3 y post), and long-term postoperative (E2; >5 y post) results. Limbs were categorized as corrected, undercorrected, or overcorrected at both E1 and E2, by comparing the subjects mean tibial rotation (MTR) in gait to a group of typically developing children. Age at surgery, preop MTR (at E0), preop gait velocity (at E0), gross motor function classification system score, and foot deformity were evaluated to determine their influence on long-term results. RESULTS: The study sample consisted of 36 legs (with E0 and E2) and 17 legs (with E0, E1, and E2). The mean age at surgery was 7.4±2.8 (range, 4 to 16.6) years. Comparing the changes over time, kinematic MTR improved from 17±11 degrees initially (E0) to -10±14 degrees short term (E1) and progressed to -23±13 degrees long term (E2) (P<0.05 E0/E1/E2; internal rotation is positive). At E2, 16 legs (44%) were found to be in the kinematic corrected group and 20 legs (56%) in the kinematic overcorrected group. There were no significant differences between the corrected and overcorrected groups of children in respect to age of surgery, gross motor function classification system, E0 MTR, gait velocity, or foot deformity. CONCLUSIONS: Although external TDO is an accepted form of treatment in children with CP, in the long term a tendency to move into external tibial torsion is common. Therefore, caution is warranted with children who initially present with ITT to avoid overcorrection. LEVEL OF EVIDENCE: Level IV-therapeutic study.

Factors predicting postoperative complications following spinal fusions in children with cerebral palsy scoliosis.

PURPOSE: The purpose of this study was to review the postoperative complications after posterior spinal fusion (PSF) in cerebral palsy (CP) scoliosis and identify the predictive preoperative risk factors. METHODS: All PSFs consecutively performed for CP scoliosis between 2004 and 2013 were reviewed. Preoperative risk score (ORS) and postoperative complications score (POCS) were used as measures of all recorded preoperative risk factors and postoperative complications, respectively. RESULTS: The review included 303 children with a mean age of 14.6 ± 3.0 years. Mean hospitalization was 16 days. Dependence on G-tube feeding was associated with higher POCS (P = 0.027). Postoperative fever, seizures, and septicemia were associated with higher ORS (P < 0.01). Specifically, postoperative pancreatitis and deep wound infections were more common in children with G-tube. CONCLUSION: This study suggests that G-tube dependence is a predictive risk factor of complications after PSF in CP scoliosis. Children with G-tube need special perioperative care. No other specific preoperative risk factor predicted postoperative complications.

Hip Instability in Down Syndrome: A Focus on Acetabular Retroversion.

BACKGROUND: The aim of this study is to compare acetabular anteversion between children with Down syndrome with or without hip instability. The second aim is to report the surgical experience at our institution in treating unstable hips for this population. METHODS: All children with Down syndrome who were seen at our institution between 2004 and 2014 were reviewed, and those who had pelvic axial computed tomographic or magnetic resonance imaging scans were identified. Acetabular anteversion was compared between 2 groups: those with hip instability as a single hip pathology and those without hip instability. For patients who had surgery for their unstable hips, demographic, clinical, and surgical data were recorded. Preoperative and last visit radiographs were reviewed. Extrusion index and Tonnis, Sharp, lateral center edge, and neck shaft angles were measured. Presence of Shenton's line disruption, crossover, and posterior wall signs were recorded. Independent and paired t test, Wilcoxon signed-rank test, and χ test were used with a significance level at 0.05. RESULTS: Out of 308 children with Down syndrome, there were 10 patients with 13 unstable hips and 13 patients with 26 stable hips who had computed tomographic or magnetic resonance imaging scans. Age and sex distributions were similar (P>0.3) with no difference in acetabular anteversion (P=0.926) between them. Twelve patients (6 boys and 6 girls) had reconstruction for 17 hips. The mean age was 9 years (3 to 15 y) and the mean follow-up was 7 years (1.2 to 17.6 y). Five hips were painful preoperatively and 1 hip was painful at last visit. Radiographic measurements improved significantly (P<0.05). Shenton's line disruption was found in fewer hips (P=0.001) at last visit with no difference in the crossover and posterior wall signs (P=0.177). CONCLUSIONS: This report suggests that a wide range of acetabular anteversion measurements exist in children with Down syndrome. After detailed anatomic study of the hip, good results with a low complication rate can be expected over the intermediate term after hip reconstruction. LEVEL OF EVIDENCE: Level IV-prognostic and therapeutic study.

Infection as a Complication of Intrathecal Baclofen Treatment in Children With Cerebral Palsy.

BACKGROUND: Children with cerebral palsy (CP) and spasticity are often managed with intrathecal baclofen treatment (ITB). Complications of ITB include infection at the pump or catheter site and late complications as well as revisions of the pump and catheter because of events such as battery expiration or implant malfunction. The goal of this study is to report the short-term and long-term incidence, risk factors, and treatment outcomes of ITB infections in children. METHODS: This was a retrospective review of 294 children with CP. The number of ITB surgeries per patient, risk of infection for primary and secondary ITB-related procedures, microorganisms responsible, and associated factors, such as concurrent orthopaedic interventions, medical comorbidities, and subsequent management of ITB-related infections, were evaluated. RESULTS: Infection occurred in 28/294 patients (9.5%) with a 4.9% rate per procedure. There were 14 acute (within 90 d of surgery) and 14 late infections. The infection risk per ITB procedure was 2.4%. Risk of late infection over 5-year mean follow-up was 0.95% per year. Pump removal with acute contralateral implantation was the most successful treatment of infections. Gross Motor Function Classification System level V and G-tube were the main risk factors for infection. A total of 133 concurrent orthopaedic procedures were performed during 277 ITB procedures with no increased risk of infection. CONCLUSIONS: ITB in children with CP has a relatively low and manageable risk of infection. It is important to always consider infection as a complication with ITB because with prompt treatment the positive impact of ITB is still possible. It is safe to perform concurrent orthopaedic procedures with ITB procedures. LEVELS OF EVIDENCE: Level III-therapeutic study.

Gait Pattern and Lower Extremity Alignment in Children With Diastrophic Dysplasia.

BACKGROUND: The aim of this study was to describe the dynamic lower extremity alignment in children with diastrophic dysplasia (DD) by 3-dimensional gait analyses. Our main hypothesis was that gait kinematics and kinetics are different than the age-normalized population and patellar dislocation can alter the gait in patients with DD. METHODS: A retrospective review of clinical data and radiographs was conducted for patients with DD who had gait analysis before lower extremity skeletal surgery excluding foot procedures. Lower extremity range of motion was measured. The Pediatric Outcomes Data Collection Instrument (PODCI) was administered to parents to evaluate their children's functional status. Gait laboratory data were collected to compare the hip and knee kinematics in cases with and without patellar dislocation. Anteroposterior standing radiographs were taken for all patients to assess the correlation between measurements (clinical, radiologic, and gait) for coronal knee alignment. RESULTS: Thirty lower extremities of 15 children (7 females and 8 males) were evaluated. The mean age was 7.4±3 years, the mean height was 97.7±15 cm (z=-5.1), and the mean weight was 20.6±6.2 kg (z=-0.8). The DD PODCI subscores were statistically significantly lower (P<0.05) than the average stature for developing children, except for the happiness score. Gait analysis, compared between all DD and an age-normalized average stature group, showed decreased forward velocity, step length, and stride length with an increased average forward tilt of the trunk and pelvis, hip flexion, hip adduction, and internal rotation (P<0.001). Delta hip and knee motion were also decreased (P<0.001). The patella was dislocated in 19 (63.3%) and central in 11 (36.6%) knees. Comparison of the minimum knee and hip flexion at the stance phase demonstrated increased crouch gait in the patellar dislocation group (P<0.001). Knee alignment measurements between clinical examination and gait analysis showed moderate correlation (r, 0.476; P=0.008). CONCLUSIONS: Children with DD demonstrated lower PODCI subscores except for happiness. Gait analysis showed limited lower extremity function of the children with DD in our study group. Patella dislocation group had increased crouch gait. LEVELS OF EVIDENCE: Level III-diagnostic study.

Clinical and radiological outcomes are correlated with the age of the child in single-stage surgical treatment of developmental dysplasia of the hip.

The principles of treatment of developmental dislocation of the hip (DDH) in an older child are different from those in a newborn. In the older child retraction of the muscles around the hip, associated with a marked acetabular dysplasia and elongation of the joint capsule explain the difficulty and instability of reduction and the frequency of complications. The aim of this study is to evaluate the effect of age on the results of a one-stage open reduction in developmental dislocation of the hip. We present the results of 21 children (27 hips) with a mean age of 6 years and 10 months at time of operation, consisting of one- stage open reduction, femoral shortening and Salter or triple pelvic osteotomy. Two groups were formed : one older and one younger than 8 years of age. We evaluated the patients according to the Severin and Mc Kay classifications. After an average follow-up of 49 months (24-84 months) 74% of patients showed a very good or good result according to Severin's radiological classification and 63% according to Mc Kay's clinical classification. When analyzed with regard to age, we found important differences in the clinical and radiological results between the children younger and older than 8 years.

Hallux valgus deformity correction without fusion in children with cerebral palsy.

This study aimed to evaluate the outcomes of nonarthrodesis surgical treatment of hallux valgus (HV) deformity in children with cerebral palsy using radiographic and gait analysis parameters. There were 25 patients who had hallux valgus correction in 39 feet. The mean age at surgery was 15±2.8 years and the mean follow-up duration was 14.6 months. The first metatarsal osteotomy was performed in nine feet, bunionectomy in 25 feet, and Aiken osteotomy in 32 feet. None had metatarsophalangeal joint fusion. We observed a significant correlation between HV correction and other foot and ankle gait parameters. Our study showed correction of HV deformity at short-term follow-up without fusion of the metatarsophalangeal joint. LEVEL OF EVIDENCE: Level IV Therapeutic Studies.

Correction of Pelvic Obliquity After Spinopelvic Fixation in Children With Cerebral Palsy: A Comparison Study With Minimum Two-Year Follow-up.

STUDY DESIGN: Single institution cohort data were collected prospectively and reviewed retrospectively. OBJECTIVES: This study aims to compare outcomes among three different instrumentation types: unit rod, iliac screws, and sacral alar iliac (SAI) screws in terms of pelvic obliquity correction in children with cerebral palsy (CP). SUMMARY OF BACKGROUND DATA: The optimal choice for spinopelvic fixation in CP scoliosis with pelvic obliquity is controversial. METHODS: Patients with minimum 2 years' follow-up were divided into three groups according to instrumentation type and matched based on preoperative pelvic obliquity and coronal major curve magnitude. Radiographic measurements included horizontal pelvic obliquity angle (PO), spinopelvic angle (SPA), coronal and sagittal Cobb angles, and T1 pelvic angle. Procedures were performed in one pediatric institution between 2004 and 2012. All measurements were performed by a single independent reviewer who was not involved in the procedures. RESULTS: Seventy-seven patients (42 unit rod, 14 iliac screw, and 21 SAI screw) were included. Gender and age distribution was similar across all groups (56% males, 44% females, mean age 13.5 years). Mean follow-up was 3.6 years. Comparing pre- and postoperative measurements, there was a significant decrease (p < .05) in PO, SPA, and coronal major cob angle in all groups. No significant loss of correction occurred during follow-up. Postoperatively, TPA improved in all groups. Nonsymptomatic loosening was noted in 59% of unit rods, 57% of iliac screws, and 52% of SAI screws. One prominent iliac screw needed removal. One nonsymptomatic rod fracture, one infected pseudarthrosis, and one rod malposition occurred in unit rod group. CONCLUSIONS: This study suggests that for correction of pelvic obliquity in cerebral palsy scoliosis, iliac and SAI screws were similar to the unit rod in comparative effectiveness and implant safety profile. LEVEL OF EVIDENCE: Therapeutic study, Level III.

Comparison of Salter osteotomy and Tonnis lateral acetabuloplasty with simultaneous open reduction for the treatment of developmental dysplasia of the hip: midterm results.

The aim of this study was to compare the midterm clinical and radiological outcomes of the Salter osteotomy (SO) and Tonnis lateral acetabuloplasty (TLA) with concomitant open reduction for the treatment of developmental dysplasia of the hip. Twenty-five hips of 20 patients who underwent SO with open reduction and 26 hips of 23 patients who underwent TLA with open reduction were evaluated retrospectively. The average age of the patients at the time of the operation was 35.6 months in the SO and 36.6 months in the TLA group, without a statistically significant difference (P=0.836). The average follow-up times in the SO and TLA groups were 59.9 and 54.8 months, respectively (P=0.397). Preoperative (40.6° in the SO vs. 42.2° in the TLA, P=0.451) and last follow-up acetabular index (12° in the SO vs. 14° in the TLA, P=0.227) and center-edge angle measurements (30° in the SO vs. 26° in the TLA, P=0.069) did not show a statistically significant difference between the SO and TLA groups; however, early postoperative acetabular index improvement was better in the TLA group than in the SO group (21.2° in the SO vs. 17.2° in the TLA, P=0.014). According to the Severin grading system, both groups showed a similar number of good outcomes without a statistically significant difference (P=0.936). Clinical assessment on the basis of McKay's criteria showed similar good and excellent outcomes (P=0.936). Both osteotomy techniques showed similar satisfactory outcomes for the treatment of DDH in patients older than 18 months of age.

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

BACKGROUND: Arthrogryposis, defined as congenital joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described that present with arthrogryposis, and variants of more than 220 genes have been associated with these disorders; however, the underlying molecular etiology remains unknown in the considerable majority of these cases. METHODS: We performed whole exome sequencing (WES) of 52 patients with clinical presentation of arthrogryposis from 48 different families. RESULTS: Affected individuals from 17 families (35.4%) had variants in known arthrogryposis-associated genes, including homozygous variants of cholinergic γ nicotinic receptor (CHRNG, 6 subjects) and endothelin converting enzyme-like 1 (ECEL1, 4 subjects). Deleterious variants in candidate arthrogryposis-causing genes (fibrillin 3 [FBN3], myosin IXA [MYO9A], and pleckstrin and Sec7 domain containing 3 [PSD3]) were identified in 3 families (6.2%). Moreover, in 8 families with a homozygous mutation in an arthrogryposis-associated gene, we identified a second locus with either a homozygous or compound heterozygous variant in a candidate gene (myosin binding protein C, fast type [MYBPC2] and vacuolar protein sorting 8 [VPS8], 2 families, 4.2%) or in another disease-associated genes (6 families, 12.5%), indicating a potential mutational burden contributing to disease expression. CONCLUSION: In 58.3% of families, the arthrogryposis manifestation could be explained by a molecular diagnosis; however, the molecular etiology in subjects from 20 families remained unsolved by WES. Only 5 of these 20 unrelated subjects had a clinical presentation consistent with amyoplasia; a phenotype not thought to be of genetic origin. Our results indicate that increased use of genome-wide technologies will provide opportunities to better understand genetic models for diseases and molecular mechanisms of genetically heterogeneous disorders, such as arthrogryposis. FUNDING: This work was supported in part by US National Human Genome Research Institute (NHGRI)/National Heart, Lung, and Blood Institute (NHLBI) grant U54HG006542 to the Baylor-Hopkins Center for Mendelian Genomics, and US National Institute of Neurological Disorders and Stroke (NINDS) grant R01NS058529 to J.R. Lupski.