Surgical Correction of Ischiopagus Tripus Conjoined Twins with Fused Pelvis: Enhancing Quality of Life through Orthopedic Intervention.

BACKGROUND The rarity of ischiopagus tripus conjoined twins complicates the surgical separation, owing to the lack of cases and high complexity. We aim to report our experience in performing orthopedic correction for ischiopagus tripus twins. CASE REPORT A pair of 3-year-old conjoined boys presented with a fused body at the pelvis region and only 1 umbilicus. There were 2 legs separated by shared genitalia and an anus at the midline, and 1 fused leg, which could be felt and moved by both of the patients. The twins also shared internal organs of the bladder, intestine, and rectum, as visualized through angiography computerized tomography scan. After several team discussions with the institutional review board, the hospital ethics committee, and both parents, it was agreed to perform disarticulation of the fused third limb, followed by correction of the trunk alignment by pelvic closed wedge osteotomy and internal fixation. We successfully reconstructed the pelvis using locking plates and additional 3.5-mm cortical screws and 1.2-mm stainless steel wire. CONCLUSIONS This report describes the presentation and surgical management of a case of ischiopagus tripus conjoined twins. It highlights the challenges involved in surgery and the importance of investigating these infants for other congenital abnormalities. Although surgical approaches for different sets of twins should be individually tailored, interventions aimed to provide optimal outcomes should consider ethical issues and parental/patient expectations. Even in situations in which the twins are inseparable, there is still room for surgical correction to be performed.

A long-term outcome (up to 29 years) of bilateral iliac wings "bayonet osteotomies" for closure of bladder exstrophy.

BACKGROUND: Several types of pelvic osteotomy techniques have been reported and employed by orthopedic surgeons to enhance the approximation of symphyseal diastasis in bladder exstrophy patients. However, there is limited evidence on a long-term follow-up to confirm which osteotomy techniques provide the most suitable and effective outcomes for correcting pelvic deformities. This study aimed to describe the surgical technique of bilateral iliac bayonet osteotomies for correcting pelvic bone without using fixation in bladder exstrophy and to report on the long-term clinical and radiographic outcomes following the bayonet osteotomies. METHODS: We retrospectively reviewed patients with bladder exstrophy who underwent bilateral iliac bayonet osteotomies with the closure of bladder exstrophy between 1993 and 2022. Clinical outcomes and radiographic pubic symphyseal diastasis measurements were evaluated. From a total of 28 operated cases, eleven were able to attend a special follow-up clinic or were interviewed by telephone by one of the authors with completed charts and recorded data. RESULTS: A total of 11 patients (9 female and 2 male) with an average age at operation of 9.14 ± 11.57 months. The average followed-up time was 14.67 ± 9.24 years (0.75-29), with the average modified Harris Hip score being 90.45 ± 1.21. All patients demonstrated decreased pubic symphyseal diastasis distance (2.05 ± 1.13 cm) compared to preoperative (4.58 ± 1.37 cm) without any evidence of nonunion. At the latest follow-up, the average foot progression angle was externally rotated 6.25° ± 4.79° with full hips ROM, and no patients reported abnormal gait, hip pain, limping, or leg length discrepancy. CONCLUSIONS: Bilateral iliac wings bayonet osteotomies technique demonstrated a safe and successful pubic symphyseal diastasis closure with an improvement both clinically and radiographically. Moreover, it showed good long-term results and excellent patient's reported outcome scores. Therefore, it would be another effective option for pelvic osteotomy in treating bladder exstrophy patients.

Pictorial review: imaging of the spinal manifestations of achondroplasia.

Achondroplasia is the commonest hereditary skeletal dysplasia exhibiting dwarfism with characteristic rhizomelic (proximal) shortening of the limbs. It is predominantly linked with an autosomal dominant inheritance, but sporadic mutations can occur which are associated with advanced maternal age. Approximately 1 in every 25 000-30 000 live births are affected, and the overall life expectancy is marginally reduced by ~10 years. Mutations in the fibroblast growth factor receptor causes a decrease in endochondral ossification, which results in stunted growth of cartilaginous bones. A resultant narrowed foramen magnum and a short clivus are seen which predisposes to craniocervical spinal canal stenosis. Apnoeic events arising from the compression of the vertebral arteries at the level of the craniocervical junction lead to fatality in the young, with a death rate as high as 7.5%. Decrease in the caudal inter-pedicular distance is characteristic and a contributory factor for cervical, thoracic and lumbar spinal canal stenosis, most pronounced in the lumbar spine with patients often requiring surgical intervention to ease symptoms. Thoracolumbar kyphoscoliosis and sacral manifestations such as small sacro-sciatic notches and a horizontal pelvis are seen. The aim of this pictorial review is to demonstrate the imaging findings of the spinal and pelvic manifestations of achondroplasia.

The Variation of the Pelvis in Unilateral Crowe Type IV Developmental Dysplasia of the Hip.

OBJECTIVE: To investigate variation of the pelvis in unilateral Crowe type IV developmental dysplasia of the hip (DDH) and analyze the reliability of pelvic landmarks. METHODS: We retrospectively received preoperative anteroposterior pelvic radiographs for 89 adult patients with unilateral Crowe type IV DDH at our institution between September 2008 and May 2019. Forty-eight patients without a false acetabulum was type IVA and 41 with a false acetabulum was type IVB. The heights of the ilium, acetabulum, and ischium areas in affected and unaffected sides were measured. The ratios of the three areas in entire pelvis are calculated. The discrepancies of bilateral iliac crest, inferior sacroiliac articulation, teardrop, and ischial tuberosity on the bisector of the pelvis were also measured. RESULTS: The mean heights of the ilium, acetabulum, ischium areas in the affected side were 74.4, 88.6, and 37.0 mm, respectively, in type IVA group and 77.7, 83.5, and 37.8 mm, respectively, in type IVB group. The heights in the unaffected side were 82.1, 84.6, and 43.8 mm, respectively, in type IVA group and 84.6, 82.0, and 44.0 mm, respectively, in type IVB group. The ratios of the ilium, acetabulum, ischium areas in affected side of Crowe type IVA group were 0.37, 0.44, and 0.19, respectively, and the ratios in unaffected side were 0.39, 0.40, and 0.21, respectively. The ratios in affected side of Crowe type IVB group were 0.39, 0.42, and 0.19, respectively, and the ratios in unaffected side were 0.40, 0.39, and 0.21, respectively. The discrepancies of bilateral iliac crest, inferior sacroiliac articulation, teardrop, and ischial tuberosity on the line of the bisector of the pelvis in Crowe type IVA group were 5.6, 5.2, 2.0, and 7.1 mm, respectively. Those in Crowe type IVB group were 8.1, 3.5, 3.5, and 4.9 mm, respectively. CONCLUSIONS: Pelvic asymmetry was a common occurrence in unilateral Crowe type IV DDH in adults. Furthermore, it should be reliable to use teardrop as pelvic landmark to balance leg length discrepancy in preoperative planning.

Retrospective Clinical Evaluation of Negative-Pressure Wound Therapy for Infection Prevention Following Malignant Pelvic Bone Tumor Resection Reconstruction.

OBJECTIVE: To evaluate the clinical outcomes of negative-pressure wound therapy (NPWT) for infection prevention following pelvic reconstruction after malignant bone tumor resection. METHODS: The study involved 82 patients who underwent pelvic reconstruction following en-bloc resection of malignant bone tumors between January 2003 and January 2016. Forty patients were treated with NPWT via implantation of vacuum-sealing drainage (VSD) materials into the pelvic cavity to prevent infection and wound problems (VSD group), and the remaining 42 patients underwent conventional treatment (control group). Study authors compared the inpatient length of stay, antibiotic use, drainage volume, time to wound closure, and infection rates between groups. Investigators also conducted cell cultures of the wound cavity washing fluid and hematoxylin-eosin staining for VSD materials to find recurrent tumor cells. RESULTS: In the VSD group, one patient (2.5%) had a superficial wound problem. In the control group, 18 patients (42.9%) had deep infection or wound problems. The VSD group had a significantly decreased infection rate, duration of antibiotic administration and inpatient stay, as well as increased wound healing compared with the control group (P < .05). Further, no tumor cells were observed in the VSD material or the wound cavity washing fluid. CONCLUSIONS: The application of NPWT with VSD material may be an effective and reliable method for preventing infection in patients who undergo pelvic reconstruction following malignant tumor resection.

New Insights on the Basic Science of Bladder Exstrophy-epispadias Complex.

The exstrophy-epispadias complex is a rare congenital anomaly presenting as a wide spectrum of disorders. The complex nature of this malformation leads to continuous investigations of the basic science concepts behind it. Elucidating these concepts allows one to fully understand the mechanisms behind the disease in order to improve diagnosis, management, and treatment ultimately leading to improvement in patient quality of life. Multiple technological advancements within the last 10 years have been made allowing for new studies to be conducted. Herein, the authors conduct a literature review of studies from 2009 to 2019, considering novel theories regarding the genetics, embryology, bladder, bony pelvis, prostate, and genitalia of patients with bladder exstrophy-epispadias complex.

Reverse reaming distraction for acetabular reconstruction of chronic pelvic discontinuity.

BACKGROUND: The acetabular distraction technique demonstrates encouraging radiographic and clinical outcomes in treating chronic pelvic discontinuity. The aim of this study is to describe a modified distraction technique and to show our results. METHODS: This study identified 12 cases of chronic pelvic discontinuity undergoing primary or revision total hip arthroplasty (THA) with the technique of reverse reaming distraction between July 2015 and November 2018. All 12 patients had a minimum follow-up of 12 months. Radiographs were reviewed to inspect for component loosening. Clinical assessment included the Harris hip score (HHS) and an ambulatory scoring system. RESULTS: At the time of final follow-up, no patient was revised. One patient had up to 1 cm migration of the cup in a horizontal or vertical direction and more than 20° change in the abduction angle but was asymptomatic. In the remaining 11 patients, no migration of the component was detected. Both the HHS and ambulatory score showed improvement in all patients. There were no perioperative complications. No postoperative dislocation occurred. CONCLUSIONS: Reverse reaming distraction is a feasible technique in treatment of chronic pelvic discontinuity, with encouraging results at early term. However, ongoing follow-up is required to determine the long-term prognosis in patients receiving this technique.

Increasing pelvic incidence is associated with more global sagittal imbalance in ankylosing spondylitis with thoracolumbar kyphosis: an observational retrospective study of 94 cases.

BACKGROUND: Ankylosing spondylitis (AS) patients with kyphosis have an abnormal spinopelvic alignment and pelvic morphology. Most studies focus on the relationship of pelvic tilt (PT) or sacral slope (SS) and deformity, and relatively few studies have addressed the relationship between pelvic incidence (PI) and kyphosis in AS patients. The purpose of this study is to analyze the correlation between pelvic incidence (PI) and the spinopelvic parameters describing local deformity or global sagittal balance in AS patients with thoracolumbar kyphosis. METHODS: A total of 94 patients with AS (91 males and 3 females) and 30 controls (27 males and 3 females) were reviewed. The mean age was 36.8 years in AS patients and 34.4 years in controls. Gender ratios and mean age were similar in both group. Sagittal spinopelvic parameters, including PI, PT, SS, thoracic kyphosis (TK), thoracolumbar kyphosis (TLK), lumbar lordosis (LL), sagittal vertical axis (SVA), the first thoracic vertebra pelvic angle (TPA), spinosacral angle (SSA) and spinopelvic angle (SPA) were measured. The same spine surgeons measured all the parameters of the AS and control group. All the sagittal spinopelvic parameters were compared between the groups. The relationship between PI and other spinopelvic parameters was analyzed with Pearson correlation (r) and unary linear regression model. RESULTS: All the sagittal parameters were found to be significantly different between AS patients and controls. Compared with the control group, the AS patients had significantly higher PI(47.4° vs. 43.2°, P < 0.001). Correlation analysis revealed that PI in AS patients was significantly positively correlated with TPA(r = 0.533, R2 = 0.284, P < 0.001), and negatively correlated with SPA(r = - 0.504, R2 = 0.254, P < 0.001). However, no correlations were found between PI and SVA, SSA, TK, TLK or LL in AS patients. CONCLUSION: This study revealed that increasing PI was significantly correlated with more global sagittal imbalance, not with the local deformity in AS patients with thoracolumbar kyphosis.

Radiological measurement of pelvic fractures using a pelvic deformity measurement software program.

BACKGROUND: It is difficult for the surgeon to measure pelvic displacement in the closed reduction operation for unstable pelvic fracture. We therefore developed a pelvic deformity measurement software program based on standardized radiographs. The objectives of the present study were to evaluate the inter-observer reliability of the program for measuring specific fracture types on preoperative pelvic films and to assess the validity of the measurement software program by comparing it with a gold standard. METHODS: Twenty-five patients diagnosed with AO/OTA type B or C pelvic fractures with the unilateral pelvis fractured and dislocated were included in this study. Four separate observers repeatedly determined the translational and rotational patterns and outcomes using the software program and hand measurement, and calculated the displacement using computed tomography (CT) coupled with a three-dimensional (3D) CT model. The validity of the measurement software was calculated by assessing the consistency between the software measurements and the gold standard. Additionally, inter-observer reliability was assessed for the software. The software was also applied in preliminary clinical practice for closed reduction procedures. RESULTS: The overall inter-observer reliabilities of the software program, CT coupled with 3D reconstruction, and hand measurements were high, with kappa values of 0.956, 0.958, and 0.853, respectively. The software showed validity similar to that of CT coupled with 3D reconstruction (0.939 vs. 0.969), and better than that of hand measurement (0.939 vs. 0.858). A preliminary clinical application demonstrated that the software is effective for guiding closed reduction of pelvic fractures. CONCLUSIONS: Our newly established pelvic deformity measurement program is a reliable and accurate tool for analyzing pelvic displacement patterns and can be used for guidance of closed reduction and planning of the reduction pathway. LEVEL OF EVIDENCE: III.

Low pelvic incidence is associated with Andersson lesions in ankylosing spondylitis patients with kyphosis.

INTRODUCTION/OBJECTIVES: This study was to investigate the role of pelvic incidence (PI) in the development of Andersson lesions (ALs) in ankylosing spondylitis (AS) patients with kyphosis and to evaluate the difference in sagittal spinopelvic parameters between inflammatory ALs and mechanical ALs. METHOD: A total of 135 AS patients with kyphosis were reviewed. The patients were classified into AL group and non-AL group based on the presence or absence of ALs. Additionally, AS patients with ALs were also classified as either inflammatory or mechanical lesions depending on the radiological features of the lesions. The sagittal spinopelvic parameters of all these AS patients were measured and compared. Logistic regression analysis was performed to determine the powerful variables for predicting ALs in AS patients. RESULTS: ALs were detected in 34 patients (25.2%) of the total 135 AS patients. The mean PI of the AL group was 40.0°, which was significantly lower than that (48.3°) of the non-AL group (P < 0.001). No statistically significant difference was observed in PI (P = 0.350) between the inflammatory lesion group and the mechanical lesion group. Logistic regression analysis showed that only PI was a statistically significant risk factor for ALs (P < 0.001) and was negatively correlated with ALs (odds ratio = 0.76). CONCLUSIONS: These data suggest that low PI is closely associated with ALs in AS patients with kyphosis and that it might be a possible risk factor for the development of ALs. Moreover, both inflammatory and mechanical ALs patients had similarly low PI.Key Points• Low PI was closely associated with ALs in AS patients with kyphosis and might be a possible risk factor for development of ALs.• Either inflammatory or mechanical ALs patients had similar low PI.

Tilt-adjusted Cup Anteversion in Patients with Severe Backward Pelvic Tilt is Associated with the Risk of Iliopsoas Impingement: A Three-dimensional Implantation Simulation.

BACKGROUND: Anterior overhang of the acetabular component is associated with iliopsoas impingement, which may cause groin pain and functional limitations after THA. However, little is known about the relationship between component overhang and functional alignment of the acetabular component. CT-based image simulation may be illuminating in learning more about this because CT images are more effective than radiographs for evaluating the component's overhang and position. QUESTIONS/PURPOSES: Using CT simulations based on preoperative data of nondysplastic and dysplastic hips, we asked: (1) What are the differences in the amount of component overhang, defined as the mediolateral distance from the component's edge to the native acetabular bony boundary on axial images (axial overhang), and as the AP distance on sagittal images (sagittal overhang) among pelvises with neutral and posterior tilt (in which the cephalad portion of the pelvis is more posterior than the caudad portion in the sagittal plane) in patients with dysplastic hips and those with nondysplastic hips? (2) Are increments in the amount of component overhang associated with a difference in the likelihood that the iliopsoas tendon will impinge against the edge of the acetabular component, after controlling for native acetabular abduction and anteversion and the presence of dysplasia? METHODS: A total of 128 hips (dysplastic group: 73 hips; nondysplastic group: 55 hips) were evaluated. We defined a dysplastic hip as one with a lateral center-edge angle of less than 20° on AP radiographs. Pelvic models with neutral (0°) and 10° and 20° of posterior tilt were created from CT data. In simulations, acetabular component models were implanted into the true acetabulum with a tilt-adjusted orientation angle that was defined as the component's angle based on a reference for the functional pelvic plane (coronal plane of the body) in each pelvic model. Axial and sagittal component overhang were measured on CT images. Axial overhang of at least 12 mm and sagittal overhang of at least 4 mm were defined as thresholds increasing the likelihood of iliopsoas impingement according to previous studies. When determining the amount of overhang of the acetabular component, we controlled for abduction and anteversion of the native acetabulum and the presence of dysplasia by performing a multivariable logistic regression analysis. RESULTS: In dysplastic hips, axial overhang increased by a mean ± SD of 5 ± 1 mm (Bonferroni adjusted p < 0.001; 95% CI, 4.7-5.1) from 0° to 10° of posterior tilt and by 5 ± 1 mm (p < 0.001; 95% CI, 4.9-5.3) from 10° to 20° of posterior tilt. Sagittal overhang increased by 1 ± 0 mm (p < 0.001; 95% CI, 1.0-1.0) from 0° to 10° of posterior tilt and by 1 ± 0 mm (p < 0.001; 95% CI, 1.0-1.0) from 10° to 20° of posterior tilt. In nondysplastic hips, axial overhang increased by a mean of 5 ± 0 mm (p < 0.001; 95% CI, 4.7-5.0) from 0° to 10° of posterior tilt and by 5 ± 1 mm (p < 0.001; 95% CI, 4.6-5.0) from 10° to 20° of posterior tilt. Sagittal overhang increased by 1 ± 0 mm (p < 0.001; 95% CI, 1.0-1.1) from 0° to 10° of posterior tilt and by 1 ± 0 mm (p < 0.001; 95% CI, 1.0-1.1) from 10° to 20° of posterior tilt. After controlling for the presence of dysplasia, we found that native acetabular abduction and anteversion and posterior pelvic tilt, presence of dysplasia (p = 0.030; adjusted odds ratio [OR], 2.2; 95% CI, 1.1-4.6), native acetabular anteversion (p < 0.001; adjusted OR, 1.4; 95% CI, 1.3-1.5), and 10° and 20° of backward tilt compared with 0° of tilt (10° of posterior tilt: p < 0.001; adjusted OR, 15; 95% CI, 5.5-41; 20° of posterior tilt: p < 0.001; adjusted OR, 333; 95% CI, 96-1157) were independently associated with axial overhang of at least 12 mm; the model showed high goodness of fit (Nagelkerke's r = 0.68). In contrast, native acetabular anteversion (p < 0.001; adjusted OR, 1.2; 95% CI, 1.1-1.2) and 20° of backward tilt compared with 0° of tilt (p = 0.015; adjusted OR, 2.2; 95% CI, 1.2-4.0) were independently associated with sagittal overhang of at least 4 mm; the model had low goodness of fit (Nagelkerke's r = 0.20). CONCLUSIONS: Acetabular component overhang is more severe when the pelvis tilts posteriorly. Moreover, posterior pelvic tilt, the presence of dysplasia, and higher native acetabular anteversion were independently associated with an increased risk of component overhang. When 20° of posterior tilt was adjusted, the risk of severe overhang was especially increased. CLINICAL RELEVANCE: Based on these results, surgeons can attempt to prevent severe overhang in patients with posterior pelvic tilt by increasing component anteversion and abduction; when component anteversion is increased by 8° and abduction is increased by 2° from the target angle of 15° of anteversion and 40° of abduction in patients with posterior tilt of 20°, the risk of severe overhang is reduced to by approximately one-twentieth. However, it is still unclear how much the degree of component anteversion should be increased when surgeons attempt to prevent anterior prosthetic dislocation at the same time. Future studies such as prospective clinical trials evaluating both prosthetic dislocation and iliopsoas impingement in patients with posterior tilt might clarify this issue.

A Case of Parasitic Twinning or Caudal Duplication in a Dog.

A 6 mo old 13.5 kg (29.7 lb) male intact American Staffordshire terrier was evaluated for a history of supernumerary pelvic limbs, with malodorous discharge from a supernumerary penis. Imaging (radiographs, abdominal ultrasound, and computed tomography with excretory urogram) showed a supernumerary pelvis with associated pelvic limbs, no osseous continuity with the primary spinal column, a colonic diverticulum extending to the supernumerary pelvis, an enlarged left kidney with a ureter connecting to a single bladder, right renal aplasia, a single descended testicle in the primary scrotum, an intra-abdominal cryptorchid testicle, and two unidentifiable soft tissue masses. At surgery, a single ileum was present with a primary and accessory cecum and colon and the accessory colon entering the supernumerary pelvis. The accessory cecum and colon, right kidney, two unknown soft tissue masses, and the single descended testicle were removed. The right kidney had a ureter that anastomosed with the accessory colon at its entry into the supernumerary pelvis. The supernumerary pelvis and hind limbs were not removed. Five months after surgery, the dog was reported to be doing well clinically. Caudal duplication is extremely rare in veterinary medicine. The appearance of supernumerary external structures may indicate internal connections as well.

Is Bony Hip Morphology Associated With Range of Motion and Strength in Asymptomatic Male Soccer Players?

Study Design Cross-sectional cohort study. Objectives To investigate the relationship between musculoskeletal screening findings and bony hip morphology in asymptomatic male soccer players. Background Athletes with femoroacetabular impingement (FAI) syndrome have cam and/or pincer morphology, pain on orthopaedic testing, and often reduced hip range of motion (ROM) and strength. However, cam and pincer morphology is also common in asymptomatic hips. Therefore, it is currently unknown whether the ROM and strength deficits observed in athletes with FAI syndrome result from the variance in their bony hip morphology or from their hip condition. Methods Male professional soccer players in Qatar were screened specifically for hip/groin pain in 2 consecutive seasons. The screening battery included pain provocation, ROM and strength tests, and hip radiographs. Univariate and multivariate regression analyses, using generalized estimating equations, evaluated the relationship between musculoskeletal screening findings and each bony hip morphological variant (cam, large cam, pincer, and acetabular dysplasia). Results Asymptomatic hips with cam and large cam morphology were associated with lower internal rotation ROM and bent-knee fall-out, and with a higher likelihood of pain on provocation testing. Pincer morphology was associated with lower abduction ROM and higher abduction strength. Acetabular dysplasia was associated with higher abduction ROM. Each association was weak and demonstrated poor or failed discriminatory power. Conclusion Bony hip morphology is associated with hip joint ROM and abduction strength, but musculoskeletal screening tests have a poor ability to discriminate between the different morphologies. J Orthop Sports Phys Ther 2018;48(4):250-259. doi:10.2519/jospt.2018.7848.

Use of the S3 Corridor for Iliosacral Fixation in a Dysmorphic Sacrum: A Case Report.

CASE: The S1 and S2 corridors are the typical osseous pathways for iliosacral screw fixation of posterior pelvic ring fractures. In dysmorphic sacra, the S1 screw trajectory is often different from that in normal sacra. We present a case of iliosacral screw placement in the third sacral segment for fixation of a complex lateral compression type-3 pelvic fracture in a patient with a dysmorphic sacrum. CONCLUSION: In patients with dysmorphic sacra and unstable posterior pelvic ring fractures or dislocations, the S3 corridor may be a feasible osseous fixation pathway that can be used in a manner equivalent to the S2 corridor in a normal sacrum.

Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation.

Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malformations of urogenital system are frequent findings. Complete loss of WNT7A function has been shown to cause AARRS, however, its partial loss leads to the milder malformation, Fuhrmann syndrome. An Indian boy affected with AARRS is reported. A novel homozygous base substitution mutation c.550A > C (p.Asn184Asp) is identified in the patient. Parents were heterozygous for the mutation. In addition to the typical features of AARRS, the patient had agenesis of the mandibular left deciduous lateral incisor. The heterozygous parents had microdontia of the maxillary left permanent third molar and taurodontism (enlarged dental pulp chamber at the expense of root) in a number of their permanent molars. Whole exome sequencing of the patient and his parents ruled out mutations in 11 known hypodontia-associated genes including WNT10A, MSX1, EDA, EDAR, EDARADD, PAX9, AXIN2, GREM2, NEMO, KRT17, and TFAP2B. In situ hybridization during tooth development showed Wnt7a expression in wild-type tooth epithelium at E14.5. All lines of evidence suggest that WNT7A has important role in tooth development and its mutation may lead to tooth agenesis, microdontia, and taurodontism. Oral examination of patients with AARRS and Fuhrmann syndromes is highly recommended.

Correction of severe spinopelvic mismatch: decreased blood loss with lateral hyperlordotic interbody grafts as compared with pedicle subtraction osteotomy.

OBJECTIVE Pedicle subtraction osteotomy (PSO) provides extensive correction in patients with fixed sagittal plane imbalance but is associated with high estimated blood loss (EBL). Anterior column realignment (ACR) with lateral graft placement and sectioning of the anterior longitudinal ligament allows restoration of lumbar lordosis (LL). The authors compare peri- and postoperative measures in 2 groups of patients undergoing correction of a sagittal plane imbalance, either through PSO or the use of lateral lumbar fusion and ACR with hyperlordotic (20°-30°) interbody cages, with stabilization through standard posterior instrumentation in all cases. METHODS The authors performed a retrospective chart review of cases involving a lumbar PSO or lateral lumbar interbody fusion and ACR (LLIF-ACR) between 2010 and 2015 at the authors' institution. Patients who had a PSO in the setting of a preexisting fusion that spanned more than 4 levels were excluded. Demographic characteristics, spinopelvic parameters, EBL, operative time, and LOS were analyzed and compared between patients treated with PSO and those treated with LLIF-ACR. RESULTS The PSO group included 14 patients and the LLIF-ACR group included 13 patients. The mean follow-up was 13 months in the LLIF-ACR group and 26 months in the PSO group. The mean EBL was significantly lower in the LLIF-ACR group, measuring approximately 50% of the mean EBL in the PSO group (1466 vs 2910 ml, p < 0.01). Total LL correction was equivalent between the 2 groups (35° in the PSO group, 31° in the LLIF-ACR group, p > 0.05), as was the preoperative PI-LL mismatch (33° in each group, p > 0.05) and the postoperative PI-LL mismatch (< 1° in each group, p = 0.05). The fusion rate as assessed by the need for reoperation due to pseudarthrosis was lower in the LLIF-ACR group but not significantly so (3 revisions in the PSO group due to pseudarthrosis vs 0 in the LLIF-ACR group, p > 0.5). The total operative time and LOS were not significantly different in the 2 groups. CONCLUSIONS This is the first direct comparison of the LLIF-ACR technique with the PSO in adult spinal deformity correction. The study demonstrates that the LLIF-ACR provides equivalent deformity correction with significantly reduced blood loss in patients with a previously unfused spine compared with the PSO. This technique provides a powerful means to avoid PSO in selected patients who require spinal deformity correction.

A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.

Al-Awadi-Raas-Rothschild syndrome (AARRS) is a rare autosomal recessive disorder which consists of severe malformations of the upper and lower limbs, abnormal genitalia and underdeveloped pelvis. Here, we present a fetus with severe limbs defects, including bilateral humeroradial synostosis, bilateral oligodactyly in hands, underdeveloped pelvis, short femora and tibiae, absence of fibulae, severely small feet, and absence of uterus. An autosomal recessively inherited novel mutation in WNT7A found in the fetus, c.304C > T, affects an evolutionarily well-conserved amino acid, causing the p.(R102W) missense change at protein level. The findings presented in this fetus are compatible with diagnosis of AARRS, expanding the mutational spectrum of limb malformations arising from defects in WNT7A.

Ethnic Differences in Bony Hip Morphology in a Cohort of 445 Professional Male Soccer Players.

BACKGROUND: Participation in high-impact athletic activities has recently been associated with a higher prevalence of cam deformity. Bony hip morphology has also emerged as an important factor in the development of hip osteoarthritis. However, it is unknown whether bony morphology differs between ethnicities in athletes participating in high-impact sports. PURPOSE: To investigate whether the prevalence of specific bony hip morphological abnormalities differed between professional male soccer players of diverse ethnic backgrounds. STUDY DESIGN: Cross-sectional study; Level of evidence, 3. METHODS: Professional male soccer players from an entire league attending preparticipation screening were invited to participate in this study. Ethnicity was registered, and standardized radiographs of anteroposterior pelvic and Dunn views were obtained. Cam and pincer deformity, and acetabular dysplasia were quantified using the alpha angle, triangular index, and lateral center-edge angle (LCEA). Regression analyses with generalized estimating equations were used to determine prevalence differences in bony hip morphology. RESULTS: A total of 445 male soccer players (890 hips; mean age ± SD, 25 ± 4.9 years) participated in the study, representing the following ethnic groups: Arabic (59%), black (24%), Persian (7%), white (6%), East Asian (2%), and other (2%). The prevalence of cam deformity (alpha angle >60°) ranged from 57.5% to 71.7% across 4 of the groups, but East Asians had a significantly lower prevalence (18.8%; P ≤ .032). A large cam deformity (alpha angle >78°) was more prevalent in white (33.3%) compared with black soccer players (17.8%; P = .041) and was absent in East Asian players. Pincer deformity (LCEA >40°) was uncommon (3%) in all ethnicities. The prevalence of acetabular dysplasia (LCEA <20°) ranged from 8.0% to 16.7%, apart from the white group, in which prevalence was only 1.9% (P = .03). CONCLUSION: The prevalence of a cam deformity and acetabular dysplasia differed between ethnicities in this cohort of professional male soccer players. These findings suggest that there may be ethnic differences in both acetabular morphology and femoral bony response to athletic load.

The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report.

INTRODUCTION: A 13-year-old child was clinically diagnosed with mucopolysaccharidosis type VI-Maroteaux-Lamy syndrome (MPS VI) at the age of 5 years, and the diagnosis was confirmed biochemically and genetically (homozygous mutation in ARSB gene). At that time, his older brother manifested with increasing severe mental retardation. His urinary glycosaminoglycan excretion in urine was elevated, but there was only 1 mutation in the ARSB gene defining him as a healthy carrier of MPS VI. The 15-year-old boy was born with dysmorphic facial features, cleft lip and palate, and multiple contractures associated with profound skeletal deformities manifested, severe mental retardation, and seizures, leading to the diagnosis of cerebral palsy from birth on.Clinical and radiographic phenotypic characterization was the baseline tool to document the older sibling, parents, and relatives, all of them examined at the Orthopaedic Hospital of Speising, Vienna, Austria. The family history (from maternal and paternal sides) showed >10 subjects with variable clinical histories of hyperactivity and attention deficit disorder, depression, and a diversity of skeletal abnormalities, such as dysplastic spondylolisthesis, discovertebral degeneration, osteopenia, osteophytosis, and progressive degeneration of the weight bearing zones (mostly developed at middle age). METHODS: Eleven patients in a family with interrelated marriages (two male siblings of 15 and 13-year-old), parents and relatives over three generations were enrolled. One of the siblings was diagnosed with Maroteaux-Lamy syndrome at the age of five-years and mutation of the ARBS gene has been encountered. The older sibling manifested at birth craniofacial abnormalities associated with multiple contracture and seizures. Cerebral palsy was the suggested diagnosis. Clinical and radiographic phenotypes were the baseline tool to document the older sibling, parents and relatives at the orthopaedic Hospital of Speising, Vienna, Austria. These were followed by whole Exome sequencing in three family subjects. RESULTS: A series of genetic studies in the older sibling showed homozygous mutation in GNS gene compatible with MPS IIID. Both parents are first related and were found to be heterozygous for N-acetylglucosamine-6-sulfatase GNS gene. Family history showed more than 10 subjects with variable clinical presentations such as dysplastic spondylolisthesis, disco-vertebral degeneration, osteopenia, osteophytosis, and progressive degeneration of the weight bearing zones (mostly developed at middle age). CONCLUSION: Owing to the multiple systemic involvements, a genetic cause was suspected and a molecular genetic investigation by using whole-exome-sequencing method in 3 family subjects (trios) was performed: the 15-year-old boy and his parents. A homozygous splice-site-mutation in the GNS gene could be found, compatible with mucopolysaccharidosis-Sanfillipo syndrome (type IIID). Both parents are first related and were now found also to be heterozygous for the GNS gene mutation found in their older son. Therefore, both parents are heterozygous carriers for the ARSB gene mutation but also the GNS gene mutation. In the son with MPS VI, no mutation in the GNS gene was found, but the brother with MPS IIID was heterozygous for the ARSB gene mutation.We presume that the intrafamilial variability of clinical signs in different family members could be the result of various mutations in the ARSB/GNS genes in the carriers or potential modulating effects of other genes or differences in genetic backgrounds.