Search

Study Objective: Mullerian duct anomalies are common in females with anorectal malformations (ARMs), although there are no universally recommended screening protocols for identification. Historically, at our institution, we have recommended a screening pelvic ultrasound (PUS) 6 months after thelarche and menarche. We aimed to evaluate outcomes associated with our post-thelarche screening PUS in females with ARMs., Methods: An institutional review board-approved retrospective chart review was performed for all female patients 8 years old or older with ARMs and documented thelarche. Data were collected on demographic characteristics and clinical course. The primary outcome was adherence to the recommended PUS. Secondary outcomes included imaging correlation with suspected Mullerian anatomy and need for intervention on the basis of imaging findings., Results: A total of 112 patients met the inclusion criteria. Of them, 87 (77.7%) completed a recommended post-thelarche screening PUS. There were no differences in completion on the basis of age, race, establishment with a primary care provider, insurance status, or type of ARM. Nine patients (10.3%) had findings on their PUS that did not correlate with their suspected Mullerian anatomy; five (5.7%) required intervention, with two requiring menstrual suppression, two requiring surgical intervention, and one requiring further imaging., Conclusion: Most patients completed the recommended post-thelarche screening PUS. In a small subset of patients, PUS did not correlate with suspected Mullerian anatomy and generated a need for intervention. Post-thelarche PUS can be a useful adjunct in patients with ARMs to identify gynecologic abnormalities., Competing Interests: Conflicts of Interest The authors have no conflicts of interest to disclose., (Copyright © 2024. Published by Elsevier Inc.)

Purpose: It aims to investigate the lumbar and pelvic morphology in congenital scoliosis with thoracolumbar hemivertebrae and its impact on proximal junctional kyphosis (PJK) incidence after hemivertebra resection and short fusion., Methods: 23 congenital scoliosis patients with thoracolumbar hemivertebra aged between 10 and 18 years were enrolled in the retrospective study. Spinopelvic sagittal parameters were analyzed on whole-spine standing lateral radiographs preoperatively, one-week postoperatively and at the final follow-up. Pearson correlations were calculated for local kyphosis (LK), lumbar and pelvic morphology parameters. Binary logistic regression and receiver operating characteristics (ROC) curve analysis were performed to identify the risk factors for PJK., Results: Thoracolumbar hemivertebra caused LK of 29.2° ± 17.3°, an increased lumbar lordosis (LL) (-64.7° ± 16.3°), lower LL apex (52.2% at L5), and small pelvic incidence (PI) (36.8° ± 6.6°). LK was correlated with lumbar morphology parameters, including LL (r = - 0.837), upper arc of LL (LLUA) (r = - 0.879), thoracolumbar kyphosis (TLK) (r = 0.933), thoracic kyphosis (TK) (r = 0.762) and TK apex (TKA) (r = - 0.749). Surgical treatment improved the lumbar morphology, but not pelvic morphology. At the final follow-up, LL had returned to its preoperative value (p = 0.158). PJK occurred in 30.4% of cases as a compensatory mechanism. Preoperatively, significant differences of parameters between non-PJK and PJK groups were observed in LK and TLK. Binary logistic regression identified three independent risk factors for PJK: preoperative LLA (OR = 0.005, 95%CI = 0.000-0.287, p = 0.011), preoperative TLK (OR = 1.134, 95%CI = 1.001-1.286, p = 0.048), and preoperative lumbar lordosis morphology type (OR = 5.507, 95%CI = 1.202-25.227, p = 0.028). However, residual LK after surgery was not correlated with PJK incidence. ROC curve analysis verified that preoperative TLK > 22.59° was associated with increased PJK incidence after surgery., Conclusions: Lumbar morphology changes as a compensatory mechanism beneath the thoracolumbar hemivertebra. However, a stable pelvis tends to allow the LL to return to its preoperative value. PJK occurred as a cranial compensatory mechanism for increasing LL and corrected TLK. A larger TLK (> 22.59°) was an independent risk factor for PJK incidence in patients with type 2 and 3A lumbar lordosis morphology., (© 2024. The Author(s), under exclusive licence to Scoliosis Research Society.)

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.

Sacral agenesis or CRS (caudal regression syndrome) is a rare congenital condition involving approximately 1 in 25 000 live births (Sharma et al., 2015) and leading to the absence of lower sacral vertebral bodies and severe malformations of the pelvis. This condition is associated with an extreme reduction of the xipho‐pubic distance and of the pelvic dimensions. It is reasonable to think that this might lead to an increased difficulty in obtaining a spontaneous pregnancy and to a consistently increased risk of maternal and perinatal complications. In literature, very little is known about pregnancy in patients with sacral agenesis and therefore on the appropriate way to counsel a patient with this condition who is trying to get pregnant (Greenwell et al., 2013). Although a case of pregnancy in a woman with sacral agenesis is mentioned in a book (J. Rogers, 2006) no cases of women with CRS carrying a pregnancy until a viable age for the fetus are reported in medical literature: as far as we know this is the first case reported in literature of a woman with this condition followed before and throughout the pregnancy with reported pre‐ and perinatal management, leading to a near‐term pregnancy. This case could be useful for clinicians who are requested to counsel female patients with the same condition on the possibility of a pregnancy and possible outcomes. [ABSTRACT FROM AUTHOR]

Abstract: A 59-year-old man with recurrent rectal cancer and type 2 diabetes mellitus underwent palliative total pelvic exenteration and intraoperative radiotherapy. After surgery, he experienced a pelvic abscess and abdominal-perineal fistula. Profuse exudate contaminated the midline abdominal incision through the abdominal-perineal fistula and delayed healing. Because of a residual tumor and the high cost, negative-pressure wound therapy was not performed. After 76 days of local treatment that involved removing necrotic tissue, controlling inflammation with an antimicrobial silver dressing, absorbing and draining exudate with a hypertonic saline dressing, promoting granulation and preventing infection with a silver alginate dressing, and promoting re-epithelialization with recombinant human epidermal growth factor gel, the abdominal wound and abdominal-perineal fistula healed successfully., (Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.)

Abstract: Rhabdomyosarcoma is the most common soft tissue sarcoma in children, and embryonal rhabdomyosarcoma is the most typical type of rhabdomyosarcoma. The heterogeneity, etiology, and origin of embryonal rhabdomyosarcoma remain unknown.After obtaining the gene expression data of every cell in the tumor tissue by single-cell RNA sequencing, we used the Seurat package in R studio for quality control, analysis, and exploration of the data. All cells are divided into tumor cells and non-tumor cells, and we chose tumor cells by marker genes. Then, we repeated the process to cluster the tumor cells and divided the subgroups by their differentially expressed genes and gene ontology/Kyoto Encyclopedia of Genes and Genomes analysis. Additionally, Monocle 2 was used for pseudo-time analysis to obtain the evolution trajectory of cells in tumor tissues.Tumor cells were divided into 5 subgroups according to their functions, which were characterized by high proliferation, sensing and adaptation to oxygen availability, enhanced epigenetic modification, enhanced nucleoside phosphonic acid metabolism, and ossification. Evolution trajectory of cells in tumor tissues is obtained.We used pseudo-time analysis to distinguish between mesenchymal stem cells and fibroblasts, proved that embryonal rhabdomyosarcoma in the pelvic originated from skeletal muscle progenitor cells, showed the evolutionary trajectory of embryonal rhabdomyosarcoma, and improved the method of evaluating the degree of malignancy of embryonal rhabdomyosarcoma., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.)

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare primary immunodeficiency disorder characterized by recurrent infections and low immunoglobulin levels due to variable combined immunodeficiency, and centromeric region instability, and facial dysmorphism. We describe a 12-year-old boy with recurrent respiratory tract infections, facial anomalies, scoliosis, and psychomotor retardation. He had recurrent pneumonia with low serum IgG and IgM levels during infancy and preschool age. Later at the age of 10, he developed recurrent ear infections. An IgA and IgM deficiency was found accompanied by a normal B-cell and T-cell count as well as an impaired candida-induced T-cell proliferation. Further evaluations revealed a missense mutation in the DNMT3B gene on chromosome 20. Chromosomal analysis showed a sunburst multi-radial feature on chromosome 1, which is a hallmark of ICF syndrome. The genetic mutation and chromosomal abnormality along with clinical findings are compatible with the diagnosis of ICF syndrome. To the best of our knowledge, this is the first time that scoliosis is observed in an ICF patient. The additional variable clinical symptoms in the case were the presence of spastic gait as well as hypogammaglobulinemia with immunoglobulin isotype switch at different ages.

Treatment of large acetabular defects and discontinuities remains challenging and relies on the accurate restoration of the native anatomy of the patient. This study introduces and validates a statistical shape model for the reconstruction of acetabular discontinuities with severe bone loss through a two-sided Markov Chain Monte Carlo reconstruction method. The performance of the reconstruction algorithm was evaluated using leave-one-out cross-validation in three defect types with varying severity as well as severe defects with discontinuities. The two-sided reconstruction method was compared to a one-sided methodology. Although, reconstruction errors increased with defect size and this increase was most pronounced for pelvic discontinuities, the two-sided reconstruction method was able to reconstruct the native anatomy with higher accuracy than the one-sided reconstruction method. These findings can improve the preoperative planning and custom implant design in patients with large pelvic defects, both with and without discontinuities.

Introduction: Numerous case reports have indicated that the "human tail" is not always a harmless protrusion but can be associated with anomalies such as occult dysraphic malformations. However, the definition and classification of this anomaly have not been discussed. A prevailing hypothesis is that the "human tail" is a residual embryonic tail. Herein, we attempted to classify and define the human tail and investigate the frequency of this anomaly., Materials and Methods: We first defined the human tail as a protrusion on the dorsal side of the lumbar, sacrococcygeal, and para-anal regions identified after birth. We collected case reports written in English, Japanese, French, German, and Italian that were published from the 1880s to the present., Results: We discovered two important findings: (a) the cause of this anomaly may differ even though the "tails" resemble each other closely in appearance and (b) its position tends to be correlated with the type of anomaly and its associated cause. We propose a new classification of the human tail based on these findings., Conclusion: Our classification may facilitate more accurate treatment and precise case descriptions of the human tail., (© 2020 Wiley Periodicals, Inc.)

Ectopia vesicae, or bladder exstrophy, is a rare malformation, more frequently found in males. Very few cases of pregnancy with unrepaired ectopia vesicae have been reported in literature. The majority of these pregnant women with ectopia vesicae have terminated their pregnancies by cesarean section due to malpresentation, preterm labor or other indications. Clemetson concluded that cesarean section was the preferable method of term delivery to avoid postpartum prolapse. We have a different opinion on this because we had an interesting case. A woman with unrepaired ectopia vesicae had two successful vaginal deliveries, in 2009 and 2019 respectively. She recovered well and did not have any symptoms or signs of pelvic organ prolapse (POP) so far. CASE PRESENTATION: Let us present this woman with ectopia vesicae who had four pregnancies; two spontaneous abortions and two vaginal deliveries. In 2009, she had a successful vaginal delivery at Yantai Harbor Hospital where the first author worked at that time. She met the first author again surprisingly, during her third trimester in 2019. She had a spacious pelvis and pendulous abdomen. In this fourth pregnancy, the fetus changed its presentation frequently. Still, she had the second vaginal delivery successfully. She recovered fully after delivery and did not have any symptoms or signs of POP. As far as we know, this is the first case that a patient with ectopia vesicae who has been observed for such a long time after multiple vaginal deliveries. CONCLUSIONS: Doctors must evaluate the risk of vaginal delivery or cesarean section and consider maternal-neonatal health. Prior to this, women with repaired or unrepaired ectopia vesicae usually delivered their babies by cesarean section. Our practice shows that vaginal delivery is also a safe and feasible choice for some of these patients, especially for those with unrepaired, mild types of ectopia vesicae who experience no other dangerous or uncomfortable symptoms.

The T-box4 (TBX4) gene (OMIM *601719) belongs to the T-box family of transcription regulators that share a conserved homology domain and are expressed at specific sites during various stages of embryonic development. Tbx4 has been found to be a crucial transcriptional regulator in embryonic hindlimb development in animal models. Monoallelic variants in the TBX4 gene are reported to be associated with skeletal defects of the pelvis and lower limbs. We report here a fetus with a novel multiple malformation syndrome associated with sacrococcygeal agenesis, bilateral lower limb aplasia, hypoplastic left heart, bilateral lung hypoplasia, hydroureteronephrosis, and nonimmune fetal hydrops, found to have a homozygous nonsense variant in the TBX4 gene. We propose that biallelic variants in the TBX4 gene are associated with a severe syndromic phenotype of sacrococcygeal agenesis and lower limb reduction defects.

Background: Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches., Study Design: A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatal indications was conducted. In 122 patients CMDS were diagnosed and classified according to the ICD-10 classification; 79 non-CMDS patients acted as controls. Pelvic skeletal segments were examined by X-rays., Results: Patients with CMDS, showed a higher risk of CPSA (Odds ratio 2.89; 95% CI 1.34 6.23) and other associated malformations in comparison to non-CMDS patients. Newborns with malformations of the large intestine have the highest risk of adjacent CPSA (48%), as it is a developmental defect originating from the same somite. In addition to skeletal agenesis/hypoplasia, we reported dysmorphic and bifid vertebras, trident ileum, and elongated neural arches., Conclusions: The high incidence of CPSA in CMDS suggests performing a routine radiographic pelvic evaluation in cases of CMDS in order to identify complex phenotypes that could originate from the same developmental field., Competing Interests: Declaration of competing interest None., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Adult spinal deformity is a major contributor to pain and disability. It is a degenerative disease with a rigid spine. Spinopelvic parameters have been identified that outline goals of operative intervention, as they have shown to significantly improve patient outcomes. Previously, this was accomplished with large, open fusions. Unfortunately, the adult spinal deformity population is often elderly with significant comorbidities. These extensive fusions have a high rate of morbidity and mortality. Technological advances have allowed minimally invasive approaches to be developed. These techniques have decreased operative morbidity without increasing health care spending., (Copyright © 2019 Elsevier Inc. All rights reserved.)

The development of hindlimbs in tetrapod species relies specifically on the transcription factor TBX4. In humans, heterozygous loss-of-function TBX4 mutations cause dominant small patella syndrome (SPS) due to haploinsufficiency. Here, we characterize a striking clinical entity in four fetuses with complete posterior amelia with pelvis and pulmonary hypoplasia (PAPPA). Through exome sequencing, we find that PAPPA syndrome is caused by homozygous TBX4 inactivating mutations during embryogenesis in humans. In two consanguineous couples, we uncover distinct germline TBX4 coding mutations, p.Tyr113 ∗ and p.Tyr127Asn, that segregated with SPS in heterozygous parents and with posterior amelia with pelvis and pulmonary hypoplasia syndrome (PAPPAS) in one available homozygous fetus. A complete absence of TBX4 transcripts in this proband with biallelic p.Tyr113 ∗ stop-gain mutations revealed nonsense-mediated decay of the endogenous mRNA. CRISPR/Cas9-mediated TBX4 deletion in Xenopus embryos confirmed its restricted role during leg development. We conclude that SPS and PAPPAS are allelic diseases of TBX4 deficiency and that TBX4 is an essential transcription factor for organogenesis of the lungs, pelvis, and hindlimbs in humans., (Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Introduction: Amelia, the complete absence of a limb, presents various management issues in pregnancy and delivery., Case: A woman with amelia of both lower limbs and flipper-like upper limb buds (phocomelia) presented in her first pregnancy at 19 weeks of gestation. Challenging issues encountered in the care of the patient included venous access, reliable blood pressure measurement, recommendations regarding mode of delivery, and preparation for caring for the child. The patient had abnormalities of the pelvis but an adequate midpelvis, so she was able to deliver vaginally without complication., Conclusion: Careful planning to allow necessary modification of intrapartum management can allow for normal vaginal birth for a patient with severe limb reduction abnormalities such as amelia and phocomelia.

Background: The impact of obesity on global spinopelvic alignment is poorly understood. This study investigated the effect of body mass index on achieving alignment targets and compensation mechanisms after corrective surgery for adult spinal deformity (ASD)., Methods: Retrospective review of a single-center database. Inclusion: patients ≥18 years with full-body stereographic images (baseline and 1 year) and who met ASD criteria (sagittal vertical axis [SVA] >5 cm, pelvic incidence minus lumbar lordosis [PI-LL] >10°, coronal curvature >20° or pelvic tilt >20°). Patients were stratified by age (<40, 40-65, and ≥65 years) and body mass index (<25, 25-30, and >30). Postoperative alignment was compared with age-adjusted ideal values. Prevalence of patients who matched ideals and unmatched (undercorrected/overcorrected) was assessed. Health-related quality of life (HRQL) scores, alignment, and compensatory mechanisms were compared across cohorts using analysis of variance and temporally with paired t tests., Results: A total of 116 patients were included (average age, 62 years; 66% female). After corrective surgery, obese and overweight patients had more residual malalignment (worse PI-LL, T1 pelvic angle, pelvic tilt, and SVA) compared with normal patients (P < 0.05). In addition, obese and overweight patients recruited more pelvic shift (obese, 62.36; overweight, 49.80; normal, 31.50) and had a higher global sagittal angle (obese, 6.51; overweight, 6.35; normal, 3.40) (P < 0.05). Obese and overweight patients showed lower overcorrection rates and higher undercorrection rates (P < 0.05). Obese patients showed worse postoperative HRQL scores (Scoliosis Research Society 22 Questionnaire, Oswestry Disability Index, visual analog scale-leg) than did overweight and normal patients (P < 0.05). Obese and overweight patients who matched age-adjusted alignment targets for SVA or PI-LL showed no HRQL improvements (P > 0.05)., Conclusions: After surgery, obese patients were undercorrected, showed more residual malalignment, recruited more pelvic shift, and had a greater global sagittal angle and worse HRQL scores. The benefits from age-adjusted alignment targets seem to be less substantial for obese and overweight patients., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Background Context: Pelvic tilt (PT) is used as an indicator of pelvic version with increased values indicating retroversion and disability. The concept of using PT solely as an absolute numerical value can be misleading, especially for the patients with pelvic incidence (PI) values near the upper and lower normal limits. Relative pelvic version (RPV) is a PI-based individualized measure of the pelvic version. Relative pelvic version indicates the individualized spatial orientation of the pelvis relative to the ideal sacral slope as defined by the magnitude of PI., Purpose: The aim of this study was to compare RPV and PT for their ability to predict mechanical complications and their correlations with health-related quality of Life (HRQoL) scores., Study Design: A retrospective analysis of a prospectively collected data of adult spinal deformity patients was carried out. Mechanical complications (proximal junctional kyphosis or proximal junctional failure, distal junctional kyphosis or distal junctional failure, rod breakage, and implant-related complications) and HRQoL scores (Oswestry Disability Index [ODI], Core Outcome Measures Index [COMI], Short Form-36 Physical Component Summary [SF-36 PCS], and Scoliosis Research Society 22 Spinal Deformity Questionnaire [SRS-22]) were used as outcome measures., Methods: Inclusion criteria were ≥4 levels fusion, and ≥2-year follow-up. Correlations between PT, RPV, PI, and HRQoL were analyzed using Pearson correlation coefficient. Pelvic incidence values and mechanical complication rates in RPV subgroups for each PT category were compared using one-way analysis of variance, Student t test, and chi-squared tests. Predictive models for mechanical complications with RPV and PT were analyzed using binomial logistic regressions., Results: A total of 222 patients (168 women, 54 men) met the inclusion criteria. Mean age was 52.2±19.3 (18-84) years. Mean follow-up was 28.8±8.2 (24-62) months. There was a significant correlation between PT and PI (r=0.613, p<.001), threatening the use of PT to quantify pelvic version for different PI values. Relative pelvic version was not correlated with PI (r=-0.108, p>.05), being able to quantify pelvic version for all PI values. Compared with PT, RPV had stronger partial correlations with ODI, COMI, SF-36 PCS, and SRS-22 scores (p<.05). Discrimination performance assessed by area under the curve, percentage accuracy in classification, true positive rate, true negative rate, and positive and negative predictive values was better for the model with RPV than for PT. For average PI sizes, the agreement between RPV and PT were moderate (0.609, p<.001), whereas the agreement in small and large PI sizes were poor (0.189, p>.05; -0.098, p>.496, respectively). When analyzed by RPV, each PT "0," "+," and "++" category was further divided into two or three distinct subgroups of patients having different PI values (p=.000, p=.000, and p=.029, respectively). Relative pelvic version subgroups within the same PT category displayed different mechanical complication rates (p=.000, p=.020, and p=.019, respectively)., Conclusions: Pelvic tilt may be insufficient or misleading in quantifying normoversion for the whole spectrum of PI values when used as an absolute numeric value in conjunction with previously reported population-based average thresholds of 20 and 30 degrees. Relative pelvic version offers an individualized quantification of ante-, normo-, and retroversion for all PI sizes. Schwab PT groups were found to constitute inhomogeneous subgroup of patients with different mean PI values and mechanical complication rates. Compared with PT, RPV showed a greater association with both mechanical complications and HRQoL., (Copyright © 2018 Elsevier Inc. All rights reserved.)

This case describes a parturient with Barnes syndrome, a rare disorder characterized by subglottic stenosis, thoracic dystrophy, and small pelvic inlet, who underwent cesarean delivery of a neonate diagnosed with Barnes syndrome. Live simulation training was performed by multidisciplinary team to prepare for the spinal anesthetic, personnel flow between 2 operating rooms, and management of various airway scenarios for the newborn. After delivery, the neonate underwent laryngoscopy-bronchoscopy with successful intubation in the operating room because of labored breathing. Airway evaluation revealed subglottic stenosis, tracheomalacia/bronchomalacia. Collaboration among perinatologists, obstetric/pediatric anesthesiologists, pediatric head and neck surgeons, and neonatologists was integral to perioperative management of both the mother and child.

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.

Objective: The purpose of this article is to present illustrative cases highlighting the value of fetal MRI as a problem-solving tool in evaluating anomalies of the fetal chest, abdomen, and pelvis that are being evaluated for fetal therapy., Conclusion: Fetal MRI is an increasingly valuable noninvasive tool for evaluating fetal anomalies in the age of fetal therapy. Although ultrasound remains the primary diagnostic imaging modality, MRI can provide additional information to assist parental counseling and patient care.

Chondrosarcoma (CHS) is the third most common primary bone tumor after myeloma and osteosarcoma. Histologically, it is made of pure hyaline cartilage differentiation. The tumor itself may have myxoid modification and calcification. It occurs especially after 50 years, with an equal gender distribution. Most CHS are solitary, the etiology is still unclear and most of them are discovered accidentally. Early diagnosis is crucial for a good prognosis. In this paper, we would like to present a case of a female patient with an accidentally discovered CHS of the iliopubic and ischiopubic ramus of the pelvis. The purpose of this report is to highlight the importance of multidisciplinary management of tumor pathology, especially when the site of the tumor is surgically hardly accessible and to underline possible common genetic aspects of benign and malignant tumors.

Hip problems in Mucopolysaccharidosis type VI (MPS VI) lead to severe disability. Lack of data on the course of hip disease in MPS VI make decisions regarding necessity, timing and type of surgical intervention difficult. We therefore studied the development of hip pathology in MPS VI patients over time. Data were collected as part of a prospective follow-up study. Standardized supine AP pelvis and frog leg lateral radiographs of both hips were performed yearly or every 2years. Image assessment was performed quantitatively (angle measurements) and qualitatively (hip morphology). Clinical burden of hip disease was evaluated by physical examination, six minute walking test (6MWT) and a questionnaire assessing pain, wheelchair-dependency and walking distance. A total of 157 pelvic radiographs of 14 ERT treated MPS VI patients were evaluated. Age at first image ranged from 2.0 to 21.1years. Median follow up duration was 6.8years. In all patients, even in the youngest, the acetabulum and os ilium were dysplastic. Coverage of the femoral head by the acetabulum improved over time, but remained insufficient. While the femoral head appeared normal in the radiographs at young age, the ossification pattern became abnormal in all patients over time. In all patients the distance covered in the 6MWT was reduced (median Z scores -3.3). Twelve patients had a waddling gait. Four patients were partially wheelchair-dependent and ten patients had limitations in their maximum walking distance. In conclusion, clinically significant hip abnormalities develop in all MPS VI patients from very early in life, starting with deformities of the os ilium and acetabulum. Femoral head abnormalities occur later, most likely due to altered mechanical forces in combination with epiphyseal abnormalities due to glycosaminoglycan storage. The final shape and angle of the femoral head differs significantly between individual MPS VI patients and is difficult to predict., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Study Design: Retrospective single-center., Objective: To investigate rotatory subluxation (RS) in adult spinal deformity (ASD) with three-dimensional (3D) stereoradiographic images and analyze relationships between RS, transverse plane parameters, spinopelvic parameters, and clinical outcomes., Background: Recent research has demonstrated that sagittal plane malalignment and listhesis correlate with ASD patient-reported outcomes. However, there is still a lack of knowledge regarding the clinical impact of 3D evaluation and rotatory subluxation. Recent developments in stereoradiography allow clinicians to obtain full-body standing radiographs with low-dose radiation and 3D reconstruction., Methods: One hundred thirty lumbar ASD patients underwent full-spine biplanar radiographs (EOS Imaging, Paris, France). Clinical outcomes were recorded. Using sterEOS software, spinopelvic parameters and lateral listhesis were measured. 3D transverse plane parameters included apical axial vertebral rotation, axial intervertebral rotation (AIR), and torsion index (sum of AIR in the curve). ASD patients were divided in three groups: AIR <5°, 5°< AIR <10°, AIR >10°. Groups were compared with respect to radiographic and clinical data. Correlations were performed between the transverse and sagittal plane parameters and clinical outcomes., Results: Patients with AIR >10° were significantly older, with larger Cobb angle (39.5°) and greater sagittal plane deformity (pelvic incidence-lumbar lordosis mismatch 11.7° and pelvic tilt 22.6°). The AIR >10° group had significantly greater apical vertebra axial rotation apex (24.8°), torsion index (45°), and upper-level AIR (21.5°) than the two other groups. Overall, 27% of AIR patients did not have two-dimensional (2D) lateral listhesis. Patients with AIR >10° had significantly worse Oswestry Disability Index and more low back pain., Conclusion: For patients in which lateral listhesis was unreadable in 2D imaging, rotatory subluxation was revealed using stereoradiography and at an earlier disease stage. Moreover, different 3D transverse plane parameters are related to different patient-reported outcomes. Therefore, axial rotation can be considered in evaluation of lumbar degenerative scoliosis severity and prognosis., Level of Evidence: Level III., (Copyright © 2017 Scoliosis Research Society. Published by Elsevier Inc. All rights reserved.)

Introduction: Sagittal plane realignment is important to achieve desirable clinical outcomes after adult spinal deformity (ASD) surgery. This study evaluates the impact of minimally invasive (MIS) techniques on sagittal plane alignment and clinical outcomes in ASD patients., Methods: A retrospective, multi-center review of ASD patients (age ≥18 years, and with one of the following: coronal Cobb ≥20°, sagittal vertical axis [SVA] >5 cm, and/or pelvic tilt >25°), MIS surgery, and four or more levels instrumented. Patients were stratified by baseline SRS-Schwab global alignment modifier (GAM) into three groups: 0 (SVA <4 cm), + (SVA 4-9.5 cm), or ++ (SVA >9.5 cm). Radiographic and clinical outcomes measures were analyzed with a minimum of 2-year follow-up., Results: A total of 96 ASD patients were identified, and 63 met the study's inclusion criteria of circumferential MIS or posterior MIS only, with four or more levels instrumented (n: Group 0 = 37, Group + = 15, and Group ++ = 11). Group 0 was younger than ++ (56.8 vs. 69.6 years), with a higher proportion of females than Group + or ++ (83.8% vs. 66.7% and 54.5%, respectively). Baseline HRQoL was similar. Postoperatively, Groups 0 and + had improved Oswestry Disability Index (ODI) and numeric rating scale (NRS) back and leg scores. Group ++ only had improvement in NRS scores. At the latest follow-up, Groups 0 and ++ had similar sagittal measurements except for PT (21.6 vs. 23.6, p = .009). The + group had improvement in PI-LL (24.2 to 17; p = .015) and LL (30.9 to 38.3; p = .013). Eight of 27 (21.6%) Group 0 patients deteriorated (4 to Group +, 4 to Group ++). Three of 15 (20.0%) Group + patients deteriorated to Group ++, and 3 improved to Group 0. Six of 11 (54.5%) Group ++ patients improved (3 to Group + and 3 to Group 0)., Conclusions: MIS techniques successfully stabilized ASD patients with Group 0 and + deformities and improved HRQoL. This study suggests that severe sagittal imbalance is not adequately treated with MIS approaches., (Copyright © 2017 Scoliosis Research Society. Published by Elsevier Inc. All rights reserved.)

Although several studies have reported that the peritoneum does not contribute to the formation of a fascia between the urogenital organs and rectum, Denonvilliers' fascia (DF), a fascia between the mesorectum and prostate (or vagina) in adults, is believed to be a remnant of the peritoneum. Remnants of the peritoneum, however, were reportedly difficult to detect in other fusion fasciae of the abdominopelvic region in mid-term fetuses. To examine morphological changes of the pelvic cul-de-sac of the peritoneum, we examined 18 male and 6 female embryos and fetuses. A typical cul-de-sac was observed only at 7 weeks, whereas, at later stages, the peritoneal cavity did not extend inferiorly to the level of the prostatic colliculus or the corresponding structure in females. The cul-de-sac had completely disappeared in front of the rectum at 8 weeks and homogeneous and loose mesenchymal tissue was present in front of the rectum at the level of the colliculus at 12-16 weeks. We found no evidence that linearly arranged mesenchymal cells developed into a definite fascia. Therefore, the development of the DF in later stages of fetal development may result from the mechanical stress on the increased volumes of the mesorectum, seminal vesicle, prostate and vagina and/or enlarged rectum. Therefore, we considered the DF as a tension-induced structure rather than a fusion fascia. Fasciae around the viscera seemed to be classified into (1) a fusion fascia, (2) a migration fascia and (3) a tension-induced fascia although the second and third types are likely to be overlapped.

The authors deal with the theme of the genesis and the increase of the obstetrical collection of pelvic abnormalities, i.e. the "dry" specimens stored at the Ospedale Maggiore (Major Hospital) of Milan (Italy), and of their scientific and educational values. Recently, following the restoration of the crypt of the Annunciation Church of the Ospedale Maggiore, a large space was converted, which could accommodate the pelvises collection permanently. A first step tofinally be able to introduce these extraordinary specimens not only to experts, but also to a wider audience.

Proximal focal femoral deficiency (PFFD) is a heterogeneous disorder characterized by various degrees of femoral deficiencies and associated anomalies of the pelvis and lower limbs. The etiology of the disease has not been determined. We report on a 3-year-old boy with severe PFFD, who showed almost completely absent femora and fibulae, malformed pelvis and ectrodactyly of the left foot. These features were partially overlapped with those of Al-Awadi-Raas-Rothschild syndrome or Fuhrmann syndrome, both of which are caused by WNT7A mutations. Molecular analysis of our case, however, demonstrated no disease-causing mutations in the WNT7A gene.

We report two sisters who have a rare skeletal abnormality termed Patterson-Lowry rhizomelic dysplasia. The typical findings of these cases on bone survey are isolated shortening and proximal metaphyseal enlargement and cupping of the bilateral humeri. The elder sister also has coxa vara deformity and dysplastic proximal femoral epiphyses on both sides. The younger sister has normal hip joint bones bilaterally, but her proximal femoral epiphyses are smaller than normal. All other bones of the sisters are of normal size and configuration. Our patients are two siblings, and their parents are first degree relatives, suggesting autosomal-recessive (AR) inheritance. The present patients help us to understand the genetic relationships and skeletal variabilities of this rare entity.

Objective: To evaluate the outcomes and complications of patients with adult spinal deformity treated in a primary versus revision fashion with long fusions to the sacropelvis., Methods: A retrospective review was performed of a multicenter consecutive series of patients with adult spinal deformity requiring fusion to the sacropelvis, either primarily or as revision, with minimum 2-year follow-up. Clinical (Scoliosis Research Society [SRS] 22 questionnaire) and radiographic parameters (including sagittal vertical axis [SVA], coronal Cobb angle, lumbar lordosis, and thoracic kyphosis) were compared between the groups., Results: There were 63 patients who met inclusion criteria; mean patient age was 51.9 years, and mean follow-up was 43 months. Patients requiring primary fusion were older (58.0 years vs. 49.5 years, P=0.01) and at baseline had a lower SVA (2.1 cm vs. 6.8 cm, P=0.01) and greater thoracolumbar Cobb angle (51.2 degrees vs. 36.5 degrees, P=0.003). At last follow-up, patients undergoing primary fusion and patients undergoing revision treatment had similar SVA (2.9 cm vs. 1.8 cm, P=0.32) and lumbar lordosis (-42.3 degrees vs. -43.4 degrees, P=0.82); patients undergoing revision treatment had more favorable SRS 22 scores (3.65 vs. 3.14, P=0.005). There was no statistical difference in complication rates between the groups (44.4% vs. 35%, P=0.68)., Conclusions: Patients requiring revision extension of instrumentation to the pelvis can be treated with the same expectation of radiographic and clinical success as patients treated primarily with fusion to the sacropelvis. The complication rate for the revision procedure is not insignificant and may be similar to a primary procedure that includes pelvic fixation., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Dipygus or pygomelia is an incomplete form of twinning due to the incomplete division of the embryonic disc. This extremely rare condition consists in the presence of an accessory limb that generally inserts into the buttock or perineum. Associated anomalies such as duplication of the genitourinary or the intestinal tract are frequent, and recurrently appear associated with spinal anomalies such as congenital scoliosis due to hemivertebra. We present our experience with a 20-year-old girl, the first and only case of dipygus recorded and treated in Switzerland, who came to us complaining of increasing low back pain along with a progressive congenital scoliosis due to the presence of a hemivertebra between L5 and S1, which was removed in a single stage exclusively through a posterior approach.

Although several syndromes include abnormalities of both the ventral body wall and external genitalia, the developmental bases of this correlation are largely unknown. Naturally occurring mutations in Aristaless-like 4 (Alx4, Strong's luxoid: Alx4Lst) have ventral body wall and pelvic girdle abnormalities. We sought to determine whether the development of the genital tubercle (GT) and its derivatives, the external genitalia, is affected by this mutation. We thus performed genetic and tissue labeling analyses in mutant mice. Alx4Lst/Lst mutants displayed hypoplasia of the dorsal GT and reduced expression of Fibronectin. We analyzed cell migration during GT formation by tissue labeling experiments and discovered that the cells located in the proximal segment of the umbilical cord (infra-umbilical mesenchyme) migrate toward the dorsal part of the GT. The Alx4Lst/Lst mutants also displayed augmented expression of Hh signal-related genes. Hence, we analyzed a series of combinatorial mutants for Alx4, Sonic hedgehog (Shh) and GLI-Kruppel family member 3 (Gli3). These phenotype-genotype analyses suggested a genetic interaction between Alx4 and Hh signaling during GT formation. Moreover, Hh gain-of-function mutants phenocopied some of these phenotypes. These observations reveal novel information regarding the pathogenic mechanisms of syndromic lower ventral body malformations, which are largely unknown.

Background: We present the results of a prospective series of 60 patients treated for neuromuscular spinal deformities with an original spinopelvic construct using two sacral screws and two iliac screws. Clinical and radiological results obtained with this new surgical technique were studied and discussed according to the epidemiological data and relevant literature., Methods: From January 2008 to June 2010, the clinical data of every patient who underwent spinopelvic fixation for treatment of a neuromuscular spinal deformity were recorded prospectively., Results: Sixty patients were operated on during the study period. Spinal correction and fusion was performed by posterior approach. In six patients with a residual spinopelvic imbalance more than 15° on lateral preoperative bending films, an anterior release of the thoracolumbar junction was performed on the same day, before posterior correction. Preoperative pelvic obliquity (PO) ranged from 4° to 44° (mean 21.6°). Postoperative pelvic obliquity ranged from 0° to 14 (mean 4.6°). No significant loss of correction was noted at the last follow-up. One patient died 3 months after the initial procedure due to respiratory compromise. 11 patients had early postoperative infections of the posterior approach., Conclusions: Despite a high rate of infectious complications, optimal correction of pelvic obliquity requires extension of spinal instrumentation to the pelvis. Spinopelvic fixation remains a difficult challenge in neurological patients with hypotrophy. We think that pelvic fixation with the "T construct" did provide effective and improved spinal stabilization in these patients, while reducing the need for a postoperative cast or brace. As a result, patients had a favourable postoperative course with early mobilization and return to a comfortable sitting position.

Introduction: Pelvic tilt is clinically assessed based on its relationship with spinal conditions, but there is little evidence from the asymptomatic-population for comparison purposes., Objective: To analyze an asymptomatic population focusing,on pelvic asymmetries using photogrammetry., Material and Methods: 92 subjects (18-35 years old) underwent marking of the anterior and posterior iliac spines and were photographed. Alcimage software was used to measure the pelvic tilt angle. Other tests included: the Kolmogorov normality test, t test, Wilcoxon test, and Pearson coefficient to measure the correlation., Results: 11.96% of males had anteversion and 34.78% normality; 38.04% of females had anteversion and 15.22% normality. Angles between iliacs for bilateral tilt showed no difference, but a difference was seen with the predominance of one side. For unilateral tilt a difference between illacs was seen. Good correlation of predominance versus anteversion was observed, and correlation was poor for side angles. The rest showed a weak or non-significant correlation., Conclusion: Tilt cannot be used individually to characterize pelvic dysfunction or pathology.

Pulmonary metastasis of low-grade endometrial stromal sarcoma is rare. A 61-year-old woman visited our hospital due to an abnormal chest shadow. Computed tomograhy showed a mass that was composed of a cystic and solid lesion, in the right lower lobe. She had undergone a combination of a hysterectomy and adnexectomy for a low-grade endometrial stromal sarcoma 57 months previously, and undergone adjuvant radiation therapy at the local site. To obtain a definitive diagnosis of the lung tumor, we performed lobectomy of the right lower lobe and lymph node dissection. To avoid possible dissemination, the tumor was resected not using video-assisted thoracic surgery but using thoracotomy. The pathologic diagnosis was pulmonary metastasis of the low-grade endometrial stromal sarcoma. Now, medroxyprogesterone acetate is being administered, and no signs of recurrence have been detected in the 24 months since the lung resection.

Cousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal anomalies. Following its description in two sibs in 1982, no new cases have been observed until the observation of two unrelated cases in 2008 who were homozygous for frameshift mutations in TBX15. We investigated an adult individual with short stature, a complex craniofacial dysmorphism, malformed and rotated ears, short neck, elbow contractures, hypoacusis, and hypoplasia of scapula and pelvis on radiographs. We identified homozygosity for a novel nonsense mutation (c.841C>T) in TBX15 predicted to cause a premature stop (p.Arg281*) with truncation of the protein. This observation confirms that Cousin syndrome is a consistent and clinically recognizable phenotype caused by loss of function of TBX15., (© 2013 Wiley Periodicals, Inc.)

Although traditional catheter-based angiography has been the gold standard for pediatric abdominal and pelvic vascular imaging for the past several decades, advances in magnetic resonance angiography (MRA) have made it a viable alternative. MRA offers several advantages in that it is noninvasive, can be performed without ionizing radiation, and does not necessarily rely on contrast administration. The ability of modern MRA techniques to define variant vascular anatomy and detect vascular disease may obviate traditional angiography in some patients., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Goldenhar syndrome (GS) is a well-recognised condition characterised by variable degree of uni- or bilateral involvement of craniofacial structures involving first and second branchial arches manifesting ocular and auricular anomalies and also vertebral defect. This syndrome presents at birth and its exact aetiology is still unknown. The affections of the neural crest cells may have some role in the multiple malformations of the GS. We present a teenaged female case who attended the Orthopaedic Outpatient Department to receive handicapped certificate in Bankura Sammilani Medical College and Hospital. She had multiple skeletal abnormalities, which included hemifacial microsomia, vertebral malformations in the form of scoliosis, distorted pelvis, but the most striking feature was the absence of thumb and aplasia of radius of left side. She did not suffer from any ocular or auricular abnormalities, neither from any cardiological, urogenital or gastroenteric ones. Radial defects associated with GS might represent a subset within this spectrum. Our case probably belongs to this subset, therefore is a very rare one.

Total hip replacement (THR) after acetabular fracture presents unique challenges to the orthopaedic surgeon. The majority of patients can be treated with a standard THR, resulting in a very reasonable outcome. Technical challenges however include infection, residual pelvic deformity, acetabular bone loss with ununited fractures, osteonecrosis of bone fragments, retained metalwork, heterotopic ossification, dealing with the sciatic nerve, and the difficulties of obtaining long-term acetabular component fixation. Indications for an acute THR include young patients with both femoral head and acetabular involvement with severe comminution that cannot be reconstructed, and the elderly, with severe bony comminution. The outcomes of THR for established post-traumatic arthritis include excellent pain relief and functional improvements. The use of modern implants and alternative bearing surfaces should improve outcomes further.

We report the case of a pregnancy in a 25-year-old woman who was born with ectopia vesicae and split pelvis, but had not undergone any reconstructive or diversion surgery in childhood. Her antenatal period was uneventful and the infant was delivered by cesarean section at term due to breech presentation. The baby had no congenital anomalies. The postoperative period was uneventful and they were discharged from the hospital in a good general condition., (© 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology.)

Background and Purpose: Management of stones in the ectopic pelvic kidney can be very challenging. Treatment of each patient should be individualized. We describe a new approach that is CT-guided transgluteal percutaneous nephrolithotripsy (PCNL)., Case and Technique: A 19-year-old male presented with symptomatic right ectopic pelvic kidney stones. He was treated with CT-guided transgluteal PCNL. The patient was stone free at postoperative day 1. No major complications were observed, and the patient was discharged home on postoperative day 2., Conclusion: CT-guided transgluteal PCNL is a safe and effective option for selected patients with ectopic pelvic kidney stones.

A hypothetical mechanism for conjoined twinning postulated by Spencer ([2003] Developmental Malformations and Clinical Implications, Baltimore: Johns Hopkins University Press, p 1-476) suggests that, after separation, monovular twins fuse in one of eight predictable homologous sites. The tripus fetal specimen under study embodies characteristics of three types therefore preventing it from classification into a simple variant of any one of the eight twin types described by Spencer. The aim of this study was to reveal internal structural anomalies of the fetal specimen by using magnetic resonance imaging and computerized tomography. Dorsally appended to the primary twin is a secondary head mass (brain tissue and ocular globe) and two spinal columns converging at T4/T5, suggesting rachipagus twinning. The ventral orientation of the secondary twin's (right lateral) lower limb suggests parapagus twinning. The caudal divergence of the spinal columns and the presence of a secondary hemipelvis, separate from the primary pelvis, suggest cephalopagus twinning. Measurements of the long bones indicate a gestational age of ∼20-23 weeks. Secondary malformations of the primary fetal body include anencephaly, cleft palate, renal agenesis, decreased left ventricular outflow, and a prematurely terminating descending aorta. This study demonstrates the possibility of using current imaging techniques to study very old, formalin-preserved human material for documentation and scientific discussion without destroying the specimen, thus keeping it intact for posterity., (Copyright © 2011 Wiley Periodicals, Inc.)

Although some navigation systems have been used for improvement of component positioning, there have been few reports regarding cases of severe pelvic deformity. We performed a retrospective review of 25 cases of total hip arthroplasty with a computed tomography-based navigation system in patients with severe pelvic deformities and estimated acetabular component position and angle between severe deformity group and mild dysplastic group as a control. There were no significant differences in accuracy of navigation system between 2 groups in terms of 3-dimensional component position or angle. Accuracy of computed tomography-based hip navigation does not depend on the degree of pelvic deformity, and this system is also useful to identify acetabular orientation and for precise component implantation in cases of pelvic deformity., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Purpose: Cloacal anomalies represent one of the greatest surgical challenges in pediatric surgery. A recent advancement in the imaging of these anomalies is 3D rotational fluoroscopic cloacagram. However, a disadvantage is that obstructed lumens and extraluminal soft tissue structures are poorly delineated. We describe the development of a novel imaging technique whereby 3D rotational fluoroscopy is combined with high-resolution 3D pelvic MR imaging., Methods: 3D rotational fluoroscopic cloacagram was initially performed. Catheters were directed into the urinary bladder, colon, and vagina. Low-osmolality iodinated contrast material mixed with a small amount of gadolinium contrast material was used to distend the catheterized cavities. After securing the catheters in place, patients underwent high-resolution 3D MRI of the pelvis. 3D MRI reconstructions were created., Results: 3D rotational fluoroscopic cloacagram provided excellent luminal definition and accurate measurements of channel/fistula lengths, using intraoperative findings as the reference standard. 3D pelvic MRI measurements were easily and accurately made (using intraoperative and 3D rotational fluoroscopic cloacagram as reference standards), and soft tissue structures outside the lumens of the bladder, vagina, and rectum were well-defined. 3D pelvic MRI was able to identify a small vesicovaginal fistula that was not seen at 3D rotational fluoroscopy., Conclusion: This novel form of preoperative imaging results in excellent delineation channel/fistula lengths, luminal anatomy, and extra-luminal soft tissue structures to aid in operative planning.

A case report of a male 6-day-old male layer chick featuring incomplete polymelia of the hind limbs and hindgut malformations is presented. The chick was submitted to computed tomography (CT) examination and subsequent anatomical dissection. Apart from the two supernumerary hind limbs, the anatomical dissection revealed additional hindgut alterations: three uniform-sized caeca flanked the ileum, and the rectum branched into paired cloacae. The supernumerary hind limbs were localized caudal to the normal hind limbs in an inverted position and were attached to pelvic girdle elements and to a curtate pygostyle. They featured a prominent unpaired femur besides paired tibiotarsi, tarsometatarsi and species-specific phalanges of the toes. Additionally, two separate bones attached to the caudoventral aspect of the regular hip bones were developed. The supernumerary limbs were in part mobile and received nerve and vascular supply. Digital 3D-reconstruction based on the CT datasets revealed the osseous components of the malformed body parts. The possible morphogenesis including an in-depth literature review and the clinical implications of the reported malformations are discussed., (© 2012 Blackwell Verlag GmbH.)

Objectives: Large rectoceles (>2 cm) are believed to be associated with difficulty in evacuation, constipation, rectal pain, and rectal bleeding. The aim of our study was to determine whether rectocele size is related to patient's symptoms or defecatory parameters., Methods: We conducted a retrospective study on data collected on patients referred to our clinic for the evaluation of evacuation disorders. All patients were questioned for constipation, fecal incontinence, and irritable bowel syndrome and were assessed with dynamic perineal ultrasonography and conventional anorectal manometry., Results: Four hundred eighty-seven women were included in our study. Rectocele was diagnosed in 106 (22%) women, and rectocele diameter >2 cm in 93 (87%) women. Rectocele size was not significantly related to demographic data, parity, or patient's symptoms. The severity of the symptoms was not correlated to the size or to the position of the rectocele. The diagnosis of irritable bowel syndrome was neither related to the size of the rectocele. Rectocele location, occurrence of enterocele, and intussusception were not related to the size of the rectocele. Full evacuation of rectoceles was more common in small rectoceles (79% vs. 24%, p = 0.0001), and no evacuation was more common in large rectoceles (37% vs. 0, p = 0.01). Rectal hyposensitivity and anismus were not related to the size of the rectocele., Conclusion: In conclusion, only the evacuation of rectoceles was correlated to the size of the rectoceles, but had no clinical significance. Other clinical, anatomical factors were also not associated to the size of the rectoceles. Rectoceles' size alone may not be an indication for surgery.

The anatomy of the inferior vena cava (IVC) and common, external and internal iliac veins (CIV, EIV, IIV respectively) was examined in 59 embalmed adult human cadavers of Caucasian origin. In the present study, we focus our attention on the drainage patterns of the ascending lumbar and iliolumbar veins (ALV, ILV) when there are variations in the major pelvic veins by highlighting and describing the variations themselves. The above patterns, when no variations exist, have already been reported. Among the 59 cadavers, nine (9/59, 15.3%) presented anomalies of the major pelvic veins, as follows: anomalous drainage of both EIV and IIV in 8.5% of the specimens (5/59, Type I); variations of the IVC in 3.4% (2/59, Type II); duplication of the IIV (1/59=1.7%, Type III); anastomotic branch between the right IIV and the left CIV (1/59=1.7%, Type IV). ALV drained either into the CIV (8/18 sides, 44.4%) or in EIV (5/18 sides, 27.8%), while absence of ILV was the most frequent pattern (8/18 sides, 44.4%). A common trunk, joining the two veins, was observed in 5/18 sides (27.8%). Those drainage patterns were in accordance with the ones discovered in our previous study. In Type I the two veins always drained into the EIV. Knowledge of the surgical anatomy of all studied veins may prevent injury to these veins during operations in the retroperitoneal space and pelvis or malposition of venous catheters placed from the groin., (Copyright © 2012 Elsevier GmbH. All rights reserved.)

In recent years, several new white matter diseases have been identified based on magnetic resonance imaging and clinical findings. For most newly defined disorders the genetic basis has been identified. However, there is still a large group of patients without a specific diagnosis. Hypomyelinating leukodystrophies are the largest group among them. In some disorders characterized by hypomyelination only central nervous system involvement is observed, but in some disorders involvement of other organs is observed as well, such as eyes or teeth. Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating disorder of the central nervous system characterized by nystagmus, ataxia, and progressive spasticity. The disease is caused by mutations in GJC2, the gene that encodes the gap junction protein connexin 47. Here we describe hypomyelination and Müllerian agenesis syndrome in a girl who is homozygous for a novel mutation in the GJC2 gene. It is an open question whether this is an association by chance or a feature of PMLD not previously noted., (Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.)

Background: There have been reports of children who had absence of the pubic rami, hip dysplasia, and genitourinary anomalies., Case Report: We describe a 44-year-old woman with severe hip dysplasia, bilateral chronic congenital hip dislocations, abnormal development of the entire pelvis, and absence of the pubic rami in association with absence of the uterus., Conclusion: We present an individual who has abnormal development of the entire pelvis, including absence of the pubic rami, and genitourinary anomalies. We suggest that this is a rare pattern of associated anomalies confined to a localized region of the body. Potential underlying developmental abnormalities include somatic mutations which affected the mesodermal cells from which the pelvis and mullerian structures develop., (Copyright © 2011 Wiley Periodicals, Inc.)