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Hypothesis/purpose: The prevalence of trochlear dysplasia is common in different populations., Background: The prevalence of trochlear dysplasia in the general population, categorised by sex, race, age, and body mass index, has been sparse. This study aimed to define the prevalence of trochlear dysplasia based on the latter categories., Study Design: Cohort retrospective study., Methods: 1162 skeletal mature healthy femora were obtained from a CT-scan-based modelling system (SOMA). Thin slice CT scans were acquired exclusively for medical indications such as polytrauma (20%), CT angiography (70%) and other reasons (i.e. Total Joint Replacement) (10%). Trochlear dysplasia was measured using Pfirmann's method. Patient demographics such as age, race and sex were recorded., Results: The overall prevalence of trochlear dysplasia is 4.5% and is far more common in Asian female patients compared to Caucasian, African and Middle Eastern knees., Conclusion: Overall, the prevalence of dysplasia in the general population was determined to be 4.5%, with female patients being more likely to suffer from the condition. Patients of Asian and Caucasian race were more likely to have trochlear dysplasia, while Middle Eastern male patients displayed more dysplastic values than their female counterparts., (© 2024. The Author(s).)

Background: Blount disease can occur at any time during the growth process, primarily with a bimodal distribution in children younger than 4 years old and adolescents. The disease process most commonly presents in Black adolescents, with disease severity positively correlated with obesity. Given the known associations among race, obesity, and socioeconomic status, we investigated the relationship between the degree of social deprivation and severity of lower extremity deformities among a community-based cohort with Blount disease., Methods: A retrospective review of hospital records and radiographs of patients with previously untreated Blount disease was conducted. Patients were classified as having early-onset or late-onset Blount disease based on whether the lower limb deformity was noted before or after the age of 4 years. The area deprivation index (ADI), a nationally validated measure that assesses socioeconomic deprivation by residential neighborhood, was calculated for each patient as a surrogate for socioeconomic status. Higher state (range: 1 to 10) or national (range: 1 to 100) ADI corresponds to increased social deprivation. Full-length standing radiographs from index clinic visits were evaluated by 2 reviewers to measure frontal plane deformity. The association of ADI with various demographic and radiographic parameters was then analyzed., Results: Of the 65 patients with Blount disease, 48 (74%) children were Black and 17 (26%) were non-black children. Nineteen children (32 limbs) had early-onset and 46 children (62 limbs) had late-onset disease. Black patients had significantly higher mean state (7.6 vs. 5.4, P =0.009) and national (55.1 vs. 37.4, P =0.002) ADI values than non-black patients. Patients with severe socioeconomic deprivation had significantly greater mechanical axis deviation (66 mm vs. 51 mm, P =0.008). After controlling demographic and socioeconomic factors, the results of multivariate linear regression showed that only increased body mass index (β=0.19, 95% CI: 0.12-0.26, P <.001) and state ADI (β=0.021, 95% CI: 0.01-0.53, P =.043) were independently associated with greater varus deformity., Conclusions: Socioeconomic deprivation was strongly associated with increased severity of varus deformity in children with late-onset Blount disease. Our analysis suggests that obesity and socioeconomic factors are the most influential with regard to disease progression., Level of Evidence: Level III., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Legg-Calvé-Perthes disease (LCPD) and Blount's disease share a similar presenting age in addition to similar symptoms such as limp or knee pain. A little overlap is mentioned about both diseases. We sought to present cases of children having both conditions to discuss the implications of this co-occurrence on diagnosis and management. After institutional review board approval, we retrospectively reviewed records of four children who developed both Blount's disease and LCPD. Patient details and outcomes were analyzed. Radiographs were evaluated for the lateral pillar classification, Stulberg classification, tibial metaphyseal-diaphyseal angle and tibiofemoral angle. Two of the cases were initially diagnosed with Blount's disease and subsequently developed Perthes, one case presented initially with both disorders and the final case had Perthes followed by Blount's. Three children were obese and one was overweight. The common symptom to all patients was an abnormal gait, which was painless in two children and painful in two. Blount's disease required surgery in three children. Radiographs showed Lateral Pillar B, B/C border and C hips, and the final Stulberg was stage II (n = 2) or stage IV (n = 2). Obesity is associated with Blount's disease and LCPD, so obese children can be at an increased risk of developing both disorders. Therefore, a child with Blount's disease who has persistent, recurrent or worsening symptoms such as gait disturbance or thigh or knee pain might benefit from a careful physical exam of the hips to prevent a delayed or even missed LCPD diagnosis., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Intrathoracic ribs are very rare congenital anomalies, and often discovered incidentally on chest X-ray. Since its first description by Lutz in 1947, approximately 50 cases have been reported in the literature till date. The aim is to review the all reported intrathoracic ribs, summarize their clinical features, and propose a potential classification. Methods: All relevant literatures were searched and reviewed. The terms include intrathoracic rib, intrathoracic bifid rib, trans-thoracic rib and intrathoracic rib anomaly. We have summarized the first finding events, origination, distribution, related anomalies and imaging features of intrathoracic rib, and propose an updated classification. Results: The patients' age at initial finding was from six weeks to 79 years old. Of all, sixty percent was less than 30 years old. There was no difference in gender. Most of them were reported by authors in western countries (85.3%, 58/68), and incidental findings by radiologist and respiratory physician. The intrathoracic rib occurs more frequently on the right side, and is usually single and unilateral. According to the new classification, type I and II was account for 45.6% and 35.3%, respectively. Conclusion: Intrathoracic rib is rare findings in clinical practice. It is useful that radiologists or clinician are familiarized with the imaging appearances of these malformations. These anomalies reflect some disturbances during the embryo development, leading us to propose a potential classification that could contribute to a better understanding of this rib anomaly., Competing Interests: Competing Interests: The authors have declared that no competing interest exists., (© The author(s).)

Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1 in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74 as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies., (© 2021. The Author(s).)

Background: Cam morphology is thought to originate near puberty and reflects a response of the peripheral aspect of the proximal femoral physis to increased local load. Participation in particular sports activities has been associated with cam morphology in contemporary patient populations; however, it is unclear whether cam is a recent phenomenon. There are limited data regarding the frequency of its occurrence and the general deviations in femoral anatomy in different historical populations. Such information may help to understand the possible influence of lifestyle and diet on cam morphology., Questions/purposes: The purpose of this study was to evaluate femoral morphology in three historical populations. We asked: (1) Was cam morphology present in the three study populations, did those populations differ, and were there differences between sexes? (2) Were there differences in neck-shaft angle, version, or inclination between and among the examined populations?, Methods: We examined 204 adult femurs from the Neolithic population from Iran (n = 37, 3000 BC to 1631 BC), medieval population from Poland (n = 135, 10th to 13th centuries), and contemporary Australian aborigines (n = 32, early 20th century), provided by the Open Research Scan Archive, Museum of the First Piasts at Lednica and the University of Wrocław, respectively. All three human populations represent different chronologic periods and lifestyles. All bones were scanned using CT and then measured on their three-dimensional (3-D) reconstructions in selected planes. Cam impingement was defined as an alpha angle > 55° measured on the inclination view. To evaluate the differences in anatomy between populations, we measured the true neck-shaft angle on the true AP view, apparent neck-shaft angle on the apparent AP view, the version angle on the version view, and the inclination angle on the inclination view. The prevalence of cam morphology and other anatomic parameters were compared among groups using chi-square test, one-way ANOVA with post hoc Tukey test, and paired t-test., Results: Cam morphology was present in 5% of the Neolithic population from Iran, in 7% of the medieval population from Poland, and 3% of the contemporary Australian aborigine femurs (OR Neolithic population from Iran/the medieval population from Poland 0.7 [95% CI 0.2 to 3.4]; p = 0.67; OR Neolithic population from Iran/contemporary Australian aborigines 1.8 [95% CI 0.2 to 20.5]; p = 0.65; OR the medieval population from Poland/contemporary Australian aborigines 2.5 [95% CI 0.3 to 20.1]; p = 0.40). There were differences in the presence of cam morphology between the sexes in the medieval population from Poland with both femurs (females: 1% [1 of 76]; males: 15% [9 of 59]; p = 0.002). There was a difference in true neck-shaft angle between the Neolithic population from Iran (121° ± 6°) and contemporary Australian aborigines (131° ± 5°; mean difference 10° [95% CI 7° to 13°]; p < 0.001) and between the medieval population from Poland (124° ± 5°) and the contemporary Australian aborigines (mean difference 7° [95% CI 5° to 9°]; p < 0.001). Apparent neck-shaft angle differed between the Neolithic population from Iran (126° ± 6°) and the contemporary Australian aborigines (134° ± 5°; mean difference 8° [95% CI 6° to 11°]; p < 0.001), and between the medieval population from Poland (126° ± 6°) and the contemporary Australian aborigines (mean difference 9° [95% CI 7° to 11°]; p < 0.001). Moreover, we observed a difference in the version angle between the Neolithic population from Iran (19° ± 7°) and the medieval population from Poland (12° ± 9°; mean difference 7° [95% CI 4° to 10°]; p < 0.001] and in the inclination angle between aforementioned groups (18° ± 7° versus 11° ± 8°; mean difference 7° [95% CI 5° to 10°]; p < 0.001)., Conclusion: This study found that cam morphology existed in historical populations at rates comparable with a contemporary population., Clinical Relevance: The presence of cam morphology in historical populations suggests that cam morphology can develop outside of the intense sports activity seen in modern adolescents. Further study will help elucidate the etiology of cam morphology, which may be useful in the development of preventive strategies., Competing Interests: Each author certifies that neither he nor she, nor any members of his or her immediate family, has funding or commercial associations (consultancies, stock ownership, equity interest, patent/licensing arrangements, etc.) that might pose a conflict of interest in connection with the submitted article. All ICMJE Conflict of Interest Forms for authors and Clinical Orthopaedics and Related Research® editors and board members are on file with the publication and can be viewed on request., (Copyright © 2021 by the Association of Bone and Joint Surgeons.)

Background: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross-sectional study, and results are presented with genetic findings., Methods: Behavioural phenotypes are compared of eight individuals with Marshall-Smith syndrome (three male individuals) and seven with Malan syndrome (four male individuals). Long-term follow-up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall-Smith syndrome., Results: Marshall-Smith syndrome individuals have more severe ID, less adaptive behaviour, more impaired speech and less reciprocal interaction compared with individuals with Malan syndrome. Sensory processing difficulties occur in both syndromes. Follow-up measurement of cognition and adaptive behaviour in Marshall-Smith syndrome shows different individual learning curves over time., Conclusions: Results show significant between and within syndrome variability. Different NFIX variants underlie distinct clinical phenotypes leading to separate entities. Cognitive, adaptive and sensory impairments are common in both syndromes and increase the risk of challenging behaviour. This study highlights the value of considering behaviour within developmental and environmental context. To improve quality of life, adaptations to environment and treatment are suggested to create a better person-environment fit., (© 2020 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.)

Background: Obesity is strongly associated with both Blount disease and obstructive sleep apnea (OSA). Obesity increases risks for anesthetic and postoperative complications, and OSA can further exacerbate these risks. Since children with Blount disease might have both conditions, we sought to determine the perioperative complications and the prevalence of OSA among these children., Methods: Patients younger than 18 years undergoing corrective surgery for Blount disease were identified from 2 sources as follows: a retrospective review of records at a single institution and querying of the Kids' Inpatient Database, a nationally representative database., Results: At our institution, the prevalence of OSA among patients surgically treated for Blount disease was 23% (42/184). Blount patients were obese (100%), and predominately African American (89%), and male (68%). Patients were treated for OSA before surgery, and 2 patients (1%) had postoperative hypoxemia. In contrast, of 1059 cases of Blount disease from the Kids' Inpatient Database, 3% were diagnosed with OSA. In total, 4.4% of all the Blount children experienced complications, including hypoxemia, respiratory insufficiency, atelectasis, and arrhythmias. Complications were associated with 4.3 additional days of hospitalization (P<0.0001) and 39% additional hospital charges (P=0.002)., Conclusions: Data from the national database showed a low rate of OSA prevalence but high respiratory and OSA-associated complications, perhaps indicating that OSA may be underdiagnosed in children with Blount disease. Affected patients, especially ones with untreated OSA, sustain increased surgical morbidity. A high index of suspicion and preoperative planning helps alleviate the burden of OSA among these patients., Level of Evidence: Level III-case-control study.

This study has mainly a descriptive aim, in which crude prevalence of minor skeletal congenital defects is calculated and sex differences are tested. Prevalence is compared with other studies to recognize regional patterns. Association with age-at-death and year-of-birth is tested to identify impact of environmental stress on minor congenital defects presence. Testing association between defects will identify defects with a probable identical etiology. Chi-square was used to identify sex differences, between studies differences, and to test relationships between defects and Spearman correlation to verify correlation intensity. T-test was used to test age-at-death and year-of-birth differences in defects prevalence. There were no statistically significant differences in prevalence of minor skeletal defects for sex and age-at-death. There were statistically significant differences in year-of-birth for sternal aperture and pectus excavatum (crude prevalence was higher for those who were born earlier). There was a statistical significant association between pectus excavatum and manubrium mesosternal joint and atlas posterior/lateral bridging and notochord defects. For most defects, this study has lower prevalence than other studies. From 18 minor axial skeletal congenital defects analyzed, prevalence ranges from absent to 26.3 (notochord defects). Pectus excavatum and manubrium mesosternal joint might have a similar etiology as well as atlas posterior/lateral bridging and notochord defects. This study has lower prevalence, for almost all defects, than other studies. None of the minor congenital defects tested might, at this time, be considered useful stress markers.

Background: The clinical and molecular characteristics of osteofibrous dysplasia (OFD)-like adamantinoma (AD) differ from those of classic AD. Most reports about OFD-like AD are case reports or small case series. More cases from different centers are still warranted., Methods: The orthopedic oncology database of our institution was searched to identify patients with AD. The cases of OFD-like and classic AD of the long bones were retrospectively analyzed. Between December 1999 and August 2016, 23 patients were treated for AD, comprising seven with OFD-like AD and 16 with classic AD. The outcomes were compared between AD subtypes., Results: In the OFD-like AD group, four lesions were treated with extensive curettage, while three were treated with wide resection. The median follow-up duration in the OFD-like AD group was 66 months (range 43-131 months). At the end of follow-up, there was only one case of local recurrence (LR) in the OFD-like AD group, giving a LR rate of 14.3% (1/7). No distant metastasis or progression to classic AD was detected in the OFD-like AD group. In the classic AD group, the treatments were below-the-knee amputation in one patient with extensive tibial and fibular lesions, curettage with a bone graft in one patient who was diagnosed with OFD based on a core needle biopsy, hemi-cortical excision and reconstruction in two patients, and segmental resection and reconstruction in 12 patients. At the end of follow-up, there were three cases of LR in the classic AD group, giving a LR rate of 18.8% (3/16); two patients developed lung metastasis after LR and died of the disease at 88 and 126 months after the first surgery in our hospital, respectively. The classic AD group had a metastatic rate of 12.5% (2/16), a final limb salvage rate of 75%, and estimated 5- and 10-year survival rates of 88.9% and 77.1%, respectively., Conclusions: OFD-like AD has a better outcome than classic AD. For OFD-like AD, extensive curettage is suggested if the tumor extent allows. For classic AD, aggressive resection with wide margins is essential to achieve local control. A long-term follow-up is necessary due to the possibility of late complications.

Blount's disease or bowed leg deformity, is a unilateral or bilateral growth deformity of the medial proximal tibia that leads to a tibial varus deformity. A distinction can be made in an early and late onset type. The disease seems to have a predisposition for certain descends. Since the first publication of Blount's disease, different hypotheses on the aetiology are proposed but no consensus exists. The objective of this study is to provide an overview of the available hypotheses on the aetiology of Blount's disease since its first description and assessment of the available level of evidence, the quality of evidence and the occurrence of bias supporting these individual hypotheses. A systematic search according to the PRISMA statement was conducted using PubMed, MEDLINE, EMBASE and the Cochrane Library using a broad combination of terminology to ascertain a complete selection. Proper MESH search criteria were formulated and the bibliographic search was limited to English and Dutch language articles. Articles with no mention of aetiology or a disease related to Blount's were excluded. Level of evidence and types of bias were assessed. Thirty-two articles that discuss the aetiology of Blount's disease were selected. A variety of hypotheses was postulated in these articles with most research in the field of increased mechanical pressure (obesity, early walking age) and race (descend). Blount's disease most likely has a multifactorial origin with influence of genetic and racial predisposition, increased mechanical pressure on the growth plate as a consequence of obesity or early walking age and possibly also nutrition. However, the exact aetiology remains unclear, the probable explanation is that multifactorial factors are all contributing to the development of Blount's disease. Histological research has shown that a disorganization of bone and cartilage structures on the medial side of the proximal tibial physis is present in patients with Blount's disease. Based on the available evidence on the aetiology of Blount's disease, we conclude that it is multifactorial. Most papers focus only on one hypotheses of Blount's disease occurrence and all are characterized as low level of evidence. There seems to be a preference for certain descends. Further research on especially genetic predisposition is needed to provide more insight in this factor of Blount's disease.

An associated femoral deformity in patients with Blount's disease is not commonly described in the literature. The objective of this study is to establish the presence and magnitude of deformity in the coronal plane of the distal femur in children of all ages with Blount's disease and compare this to a matched cohort of children from the same population. This was a retrospective review of patients from an academic hospital. A control group was established by matching for age and gender from a group of unaffected patients with mid to proximal third femur fractures or controls at the same hospital. Study participants were categorized by age at onset of deformity as follows: infantile (<4 years), juvenile (4-10 years) and adolescent (>10 years). The measurements of the anatomic lateral distal femoral angle (aLDFA) were recorded and the Wilcoxon rank-sum test was used to determine statistically significant differences in the LFDA between children with Blount's disease and those without. Seventy-two Black African children were included in the study with 118 affected limbs (27 infantile, 55 juvenile and 36 adolescent). The overall average aLDFA for all patients with Blount's disease was 87° (range 73-100°). Overall, children with Blount's disease had a higher aLDFA than children without (87° vs. 82°). There was a significant association between LDFA in the control group and children with Blount's disease in each of the three groups. This study found distal femoral varus deformity to be present in all groups of children with Blount's disease. In this study population, it was most significant in the infantile and adolescent groups when compared to a control group from the same population. Although further studies are required, the surgeon must always assess the distal femoral component in treating children with Blount's disease.

Objective: The ubiquity of cribra orbitalia in skeletal samples has led to rigorous debate over their etiology, with most concluding that nutrition, physiological stressors, and environmental disease vectors synergistically contribute to lesion development. To parse the relative contributions of these etiological factors in the prehistoric Andes, this spatial paleopathological meta-analysis investigates the relationship between population-wide prehistoric Andean cribra orbitalia rates and geographic, climatic, and hydrological variables., Methods: Crude prevalence patterns of cribra orbitalia from 61 archaeological sites were plotted and analyzed with geostatistical methods to explore spatial patterns in the distribution of anemia-associated lesions. Multiple linear regression modeling was performed on 19 spatial variables suspected to contribute to various forms of anemia that result in cribrotic lesions., Results: Spatially-clustered high cribra orbitalia rates exist around the Central Peruvian coast, but are paradoxically low on the Ecuadorian coast. Multiple regression shows that elevation, temperature, and precipitation were not predictive of lesion rates. Multiple regression models show that aridity and seasonal variability in freshwater supply, together, explained a third of the variation in lesion rates., Conclusion: While cribra orbitalia has long been tied to coastal proximity, these results suggest environmental constraints such as the need for water storage could have promoted malnutrition and pathogenic infection more than mere coastal proximity., Limitations of This Study: This analysis is limited by the paucity of data from highland sites and by the assumption that burials are local to the excavation site., Suggestions for Future Research: Future studies will integrate isotopic and remotely-sensed data into models to explore links between water security, nutrition, and disease., (Copyright © 2019. Published by Elsevier Inc.)

The oral cavity is one of the main route for environmental contaminations associated to many chronic diseases (cancers, fertility and behavior disorders for example) via alimentation, medications and respiration. These environmental factors including, among others, endocrine disruptors and excessive fluoride can disrupt dental development and thus generate irreversible enamel defects. These defects are then treated with materials that may release molecules capable of generating these defects, leading to a vicious circle, particularly in pregnant women and young children. The present paper aims to review the state of knowledge, questions and controversies on common environmental factors in contact with the oral cavity. It also reviews their mechanisms of action and the mediators involved in enamel pathologies associated with environmental conditions. Dental tissues can not only be targeted by environmental factors but can also serve as early and easily accessible markers of exposure to these agents. Understanding and characterizing the environmental impact in the oral cavity will help to prevent multiple diseases, oral and distant, whose link with oral homeostasis is just being explored., (© 2020 médecine/sciences – Inserm.)

Background: Slipped capital femoral epiphysis (SCFE) and Blount disease are strongly associated with pediatric obesity, yet they have only recently been identified as indications for consideration of metabolic and bariatric surgery (MBS)., Objectives: To describe the relationships between pediatric obesity, MBS, SCFE, and Blount disease., Setting: Nationwide database., Methods: The national inpatient sample was used to identify patients ≤20 years old with obesity who underwent MBS from 2007 to 2016. Presence of SCFE and Blount disease was similarly extracted., Results: The overall prevalence of SCFE and Blount disease among patients ≤20 years old is .02% for both (14,976, 11,238 patients, respectively) with no statistically significant change over the study period (P = .68, .07, respectively). The rates of SCFE and Blount disease in children with and without obesity are .46% versus .02% and .36% versus .01%, respectively (P < .001 for both). The mean age of patients with SCFE and obesity was 12 years old, while the mean age of those without obesity was 12.2 years old (P = .03). None of the children with obesity and SCFE underwent MBS. Similarly, the mean age of patients with Blount disease and obesity was 12.6 years old, while the mean age of those without obesity was 13.1 years old. Moreover, the mean age of children with Blount disease and obesity who underwent MBS was 16 years old (P < .001)., Conclusions: Orthopedic complications remain a persistent problem in the pediatric population who suffer from obesity. Despite being diagnosed at a young age, patients with SCFE and/or Blount disease are not undergoing MBS until their later adolescent years, potentially leading to unnecessary disease progression or recurrence of disease after orthopedic interventions. Therefore, SCFE and Blount disease should be considered indications for early consideration of MBS in this pediatric population., (Copyright © 2019 American Society for Bariatric Surgery. Published by Elsevier Inc. All rights reserved.)

Thoracolumbar intervertebral disk herniation (TL-IVDH) with caudal articular process anomalies has been reported in Pugs. It currently remains unclear whether congenital caudal articular process aplasia/hypoplasia predisposes to the development of TL-IVDH. However, there are difficulties in proving the causal relationship between caudal articular process anomalies and TL-IVDH. The aim of this study was to describe the prevalence of TL-IVDH at the vertebral space containing anomalous and normal caudal articular processes in Pugs. Fifty-seven pugs were eligible to be included in this study. Caudal articular process aplasia/hypoplasia affected 52/57 (91.2%) dogs. The caudal articular process anomalies were most frequently located between T10 and T13. Colocalization of caudal articular process aplasia/hypoplasia and TL-IVDH was detected in 11 dogs (19.3%). The prevalence of TL-IVDH at vertebral spaces containing abnormal caudal articular processes was 12.3%, whereas the prevalence of TL-IVDH at vertebral spaces containing normal articular processes was 2.4%. With the increase in the number of vertebrae with caudal articular process anomalies, the prevalence of TL-IVDH also increased. The results of this study suggested the prevalence of caudal articular process anomalies was high in Pugs. The caudal articular process anomalies could be associated with TL-IVDH. A large cohort is needed to prove the causal relationship between caudal articular process anomalies and TL-IVDH.

This paper describes the clinical features of paediatric patients with tracheal bronchus (TB) identified with flexible bronchoscopy (FB) in a tertiary care hospital. A retrospective review of every FB with diagnosis of TB carried out in our centre since 1990 was performed which considered specifically: age at diagnosis, gender, semiology, somatic anomalies, tracheal bronchus type, other bronchoscopic findings and clinical progress. Out of 1665 FB in 1337 patients, TB was found in 26 (1.9%). The median age was 15 months (age range 1 month-13 years), with no gender differences. Of 26 patients, a total of 24 had associated congenital pathologies (92.3%) (heart disease 69%, chromosomal abnormality 35% and spinal fusion defect 11%). FB was performed for a number of reasons including: recurrent or persistent wheezing, pneumonia or atelectasis, persistent stridor and refractory cough. The type of TB identified was primarily ectopic lobar of the right upper lobe (73%) and the apical supernumerary (11.5%). In addition to TB, other defects were found by FB in 90% of cases, such as tracheomalacia, bronchomalacia or tracheal stenosis. The review confirmed a higher prevalence of TB than expected in previous series and highlighted its association with other airway or somatic malformations, notably congenital cardiac defects and spinal fusion defects. All patients were managed conservatively for the TB., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Introduction: Developmental dysplasia of the hip (DDH) refers to the spectrum of abnormalities of maturation and development of the hip. Breech presentation is associated with DDH. This risk factor can be modified by external cephalic version (ECV). The aim of this study is to evaluate the incidence of DDH in patients who successfully underwent ECV, as well as to evaluate need for these children (breech for a period during gestation) to be included in the DDH screening protocol., Material and Methods: A prospective cohort study was conducted in the Hospital Universitario de Vigo from January 1, 2015 to December 31, 2015. It included children born in cephalic presentation after a successful ECV, as well as children born in breech presentation. They all were screened for DDH by ultrasound examination of the hip., Results: Out of a total of 122 newborns included in the study, ECV was attempted on 67 (54.9%), of which 35 (52.2%) were successful. Out of the 14 children diagnosed with DDH, 3 of those born in cephalic presentation after a successful ECV were found to be normal on physical examination., Conclusions: Successful ECV is associated with a lower incidence of DDH as regards breech presentation. However, these patients should be included in the DDH screening protocol for the early detection of this disorder., (Copyright © 2017 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.)

The prevalence of cribra orbitalia (CO) is often used as an indicator of the general health status of past populations. Although debates as to its exact etiology are still ongoing, cribra is generally accepted to be the result of an anemic condition. Cribra has been reported to be declining in modern populations or even to be absent. The aim of this study was to compare modern, historic, and prehistoric prevalences of CO to assess whether it has changed through time and if it still occurs in contemporary populations. CO in skeletons (n = 844) from two widely different regions, the northeastern US and the central Gauteng area of South Africa, were compared in order to evaluate temporal trends. The sample comprised 245 prehistoric, 381 historic, and 218 modern skeletons. In adult skeletons the prevalence was found to be lower in historic South Africans (2.23%) than in historic North Americans (6.25%). It was lower in modern North Americans than in modern South Africans (12.35 and 16.8%, respectively). Its prevalence in prehistoric North Americans (11.86%) was also not much different from that of modern North Americans (12.35%). The frequency of CO in historic South African juveniles was higher (10.71%) than in historic North American juveniles (1.35%). Modern South African children had a lower frequency (25.14%) than modern American juveniles (40%), although the sample in the North American group was small. It seems that CO is still present in modern populations, and that health may indeed have declined for some groups in recent times. Clin. Anat. 29:823-830, 2016. © 2016 Wiley Periodicals, Inc., (© 2016 Wiley Periodicals, Inc.)

Introduction: Blount disease can be defined as idiopathic proximal tibial vara. Several etiologies including the mechanical theory have been described. Obesity is the only causative factor proven to be associated with Blount disease. The aim of this study is to assess if there is an association of vitamin D deficiency and Blount disease., Methods: This a retrospective study of preoperative and postoperative patients with Blount disease who were screened for vitamin D deficiency. Patients with genu varum due to confirmed vitamin D deficiency and rickets were excluded. The study patients had the following blood tests done: calcium, phosphate, alkaline phosphatase, parathyroid, and 25-hydroxyvitamin D (25(OH)D) hormones., Results: We recruited 50 patients. The mean age of these patients was 10.4 years (SD±3.88) with average body mass index of 28.7 kg/m (±10.2). Thirty (60%) patients were diagnosed with infantile, 4 (8%) juvenile, and 16 (32%) adolescent Blount disease. Eight (16%) patients were found to be vitamin D deplete (25(OH)D levels <50 nmol/L). Of these, 8 patients, 6 were insufficient (25(OH)D levels between 30 and 50 nmol/L) and the other 2 were deficient (25(OH)D levels <30 nmol/L)., Conclusions: This study showed that the prevalence of vitamin D deficiency in children with Blount disease was similar to that of healthy children living in Johannesburg. There is no evidence that vitamin D deficiency is a factor in causing Blount disease., Level of Evidence: Level III-retrospective study.

Glenoid dysplasia is a developmental anomaly of the scapula that is characterized by a bony deficiency of the posteroinferior glenoid and the adjacent scapular neck. Glenoid dysplasia may occur as a primary isolated condition or in association with various syndromes. It is thought to be related to defective ossification of the inferior glenoid precartilage. Radiographs typically demonstrate bilateral, symmetric dysplasia of the scapular neck with a range of associated bony changes. Glenoid dysplasia has been associated with instability and premature glenohumeral arthritis, although the clinical presentation is highly variable. Symptoms are delayed or mitigated as a result of compensatory glenoid labral hyperplasia. The treatment of glenoid dysplasia remains challenging. Nonsurgical treatment is reasonably successful in younger patients, but premature degenerative changes frequently occur. Although favorable results can be obtained with the use of anatomic arthroplasty, continued subluxation and glenoid component failure can lead to unacceptable outcomes.

A familiarity with the anatomy of some types of bone anomalies is necessary for clinicians involved in many medical areas. The aim of this paper is to review the newest literature concerning the morphology, embryology, clinical image, and therapeutic methods of the cervical ribs in the humans. The incidence of cervical ribs has been found to vary from 0.58% in Malaysian population to 6.2% in Turkish population. Cervical ribs have clinical implications that are generally divided into neurological or vascular. This study is of particular importance for clinicians, as early identification of cervical ribs may prevent life-threatening complications., Competing Interests: The authors confirm that neither Michał Polguj nor any other author of this paper has any competing interests.

A higher incidence of osteopenia is observed among children with inherited metabolic disorders (inborn errors of metabolism, or IEMs) who consume medical food-based diets that restrict natural vitamin D-containing food sources. We evaluated the vitamin D status of children with IEMs who live in the Pacific Northwest with limited sun exposure and determined whether bone mineral density (BMD) in children with phenylketonuria (PKU), the most common IEM, correlated with diet or biochemical markers of bone metabolism. We hypothesized that children with IEMs would have lower serum vitamin D concentrations than controls and that some children with PKU would have reduced bone mineralization. A retrospective record review of 88 patients with IEMs, and 445 children on unrestricted diets (controls) found the 25-hydroxyvitamin D concentrations were normal and not significantly different between groups (IEM patients, 27.1 ± 10.9; controls, 27.6 ± 11.2). Normal BMD at the hip or spine (-2

Background: Adolescents and young adults face unique and complex physical, psychological, and family challenges. Despite improvements in care for chronic kidney disease (CKD) and end-stage kidney disease (ESKD), long-term mortality for children, adolescents, and young adults with CKD remains substantially higher than their healthy counterparts., Summary: In this article, we discuss the complex challenges that adolescent and young adult CKD/ESKD patients face. Adolescents have different CKD etiologies and progress along a course dissimilar to the adult population, but have similar multifarious comorbidities. In the setting of puberty and learning to become self-sufficient, adolescence is a critical time for growth and psychosocial development. Physiological complications of CKD underlie many of the long-term outcomes. CKD-mineral and bone disorder and anemia are particularly challenging given that they are exacerbated by the rapid growth of adolescents. Endocrine imbalances and malnutrition can delay and limit growth. All of these factors, together with family dynamics and socioeconomic status, contribute to the poor long-term outcomes and decreased quality of life (QoL) for these patients and their families., Key Messages: Care for the adolescent CKD/ESKD population is uniquely challenging, but research has identified ways in which we can continue to improve long-term outcomes and QoL for adolescents with CKD/ESKD., (© 2016 S. Karger AG, Basel.)

Early-onset and late-onset Blount disease has been described with some clinical overlap between the two forms. Using PRISMA guidelines, we searched for articles that included demographics of patients with both types of Blount disease. On the basis of 24 articles that met our inclusion criteria, patients with early-onset Blount disease were more likely to have bilateral involvement [odds ratio (OR) 4.30, 95% confidence interval (CI) 2.27-8.17] and less likely to be Black (OR 0.20, 95% CI 0.08-0.53) or male (OR 0.32, 95% CI 0.13-0.78). Our results confirm that differences based on laterality, race, and sex exist between the two forms of Blount disease.

Purpose: Sternal foramina represent developmental defects in the sternum, which occur due to incomplete fusion of the sternal ossification centers. Sternal foramina have been correlated with several clinical implications and constitute a subject of interest for the forensic practice. The aim of this study is to define their incidence in Greek population., Methods: The presence of midline foramen was studied in 60 dried, adult sterna derived from the Anatomy Department of Medical School of Aristotle University of Thessaloniki. Measurements were made with a 0.01-mm accuracy caliber and photographic documentation was obtained. Additionally, computed tomography scanning of the sterna was performed., Results: Sternal foramina were found in 11 subjects, resulting in an incidence of 18.3% over the total population. In 27.3% of the subjects with sternal foramen, a single sternal foramen was observed in the body of the sternum, while in 45.5% of the sterna presenting sternal foramina, multiple xiphoidal foramina were noticed. In two specimens, association of xiphoidal foramina with sternal cleft was documented., Conclusion: Sternal foramina are variant quite common in the population, with distinct imaging pattern and awareness of their existence is important for the physician.

The skeletal dysplasias are a group of more than 450 heritable disorders of bone. They frequently present in the newborn period with disproportion, radiographic abnormalities, and occasionally other organ system abnormalities. For improved clinical care, it is important to determine a precise diagnosis to aid in management, familial recurrence, and identify those disorders highly associated with mortality. Long-term management of these disorders is predicated on an understanding of the associated skeletal system abnormalities, and these children are best served by a team approach to health care surveillance., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Fetal skeletal dysplasias are a heterogeneous group of rare genetic disorders, affecting approximately 2.4-4.5 of 10,000 births. We performed a retrospective review of the perinatal autopsies conducted between the years 2002-2011 at our center. The study population consisted of fetuses diagnosed with skeletal dysplasia with subsequent termination, stillbirth and live-born who died shortly after birth. Of the 2002 autopsies performed, 112 (5.6%) were diagnosed with skeletal dysplasia. These 112 cases encompassed 17 of 40 groups of Nosology 2010. The two most common Nosology groups were osteogenesis imperfecta [OI, 27/112 (24%)] and the fibroblast growth factor receptor type 3 (FGFR3) chondrodysplasias [27/112 (24%)]. The most common specific diagnoses were thanatophoric dysplasia (TD) type 1 [20 (17.9%)], and OI type 2 [20 (17.9%)]. The combined radiology, pathology, and genetic investigations and grouping the cases using Nosology 2010 resulted in a specific diagnosis in 96 of 112 cases., (© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Osteoarthritis of the knee is associated with deformities of the lower limb. Tibia valga is a contributing factor to lower limb alignment in valgus knees. We evaluated 97 valgus knees and 100 varus knees. Long-leg films were taken in weight bearing with both knees in full extension. For valgus knees, 52 knees (53%) had a tibia valga deformity. Average tibia valgus deformation was 5.0°. For varus knees, there was only 1 case of tibia valga (1%), with a deformation of 2.5°. The aim of this study was to assess the prevalence of primary tibia valga in valgus and varus knees and understand how it affects our approach to total knee arthroplasty (TKA). We recommend having full-leg length films when planning for TKA in valgus knees., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Objective: To epidemiologically characterize the population treated at our orthopedic clinic with a diagnosis of septic arthritic of the hip between 2006 and 2012., Methods: Fifteen patients diagnosed with septic arthritis of the hip between 2006 and 2012 were retrospectively evaluated. The patients' clinical and epidemiological characteristics were surveyed; a sensitivity profile relating to the microorganisms that caused the infections and the complications relating to the patients' treatment and evolution were identified., Results: Septic arthritis was more common among males. Most diagnoses were made through positive synovial fluid cultures, after joint drainage was performed using the Smith-Petersen route. Among the comorbidities found, the most prevalent were systemic arterial hypertension, diabetes mellitus, and human immunodeficiency virus. The pathological joint conditions diagnosed prior to joint infection were osteoarthrosis and developmental dysplasia of the hip. The infectious agent most frequently isolated was Staphylococcus aureus. From the clinical and laboratory data investigated, 53.33% of the cases presented with fever, and all except one patient presented with increased measures in inflammation tests. Gram staining was positive in only 26.66% of the synovial fluid samples analyzed. Six patients presented with joint complications after treatment was administered., Conclusion: S. aureus is the most common pathogen in acute infections of the hip in our setting. Factors such as clinical comorbidities are associated with septic arthritis of the hip. Because of the relatively small number of patients, given that this is a condition of low prevalence, there was no statistically significant correlation in relation to worse prognosis for the disease.

Purpose: The purpose of the present epidemiologic study is to record the radiographic presence of trochlear dysplasia and patella alta in patients who undergo anterior cruciate ligament (ACL) reconstruction as a potential underlying factor for post-operative anterior knee pain (AKP)., Methods: All consecutive cases of skeletally-mature ACL-deficient knees that would undergo ACL reconstruction in three different hospitals were prospectively included during a six-month period. Inclusion criteria were acute and sub-acute ACL injury with no previous ipsilateral knee operation. Patients with chronic ACL tears, prior-to-ACL-injury history of patellar instability or other PF disorders were excluded from the study., Results: A total of 299 knees were included (mean age 32 ± ten years). Forty-four (14.7 %) knees had a positive 'crossing sign' in the lateral X-rays and 255 (85.3 %) had no sign of trochlear dysplasia (p < 0.01). Among the cases with trochlear dysplasia, 41 (93 %) had type A trochlear dysplasia with the presence only of the 'crossing sign' and three (7 %) had type C trochlear dysplasia. Patellar height results included a mean Caton-Deschamps index of 1.0 ± 0.14 (0.5-1.4). Twenty (6.6 %) knees had an index of less than 0.8, and two (0.6 %) knees had an index less than 0.6. In contrast, 15 (5.0 %) knees had an abnormal value of more than 1.2, indicating patella alta., Conclusions: The most important finding of the study is the increased prevalence of trochlear dysplasia and patella alta in patients with ACL injury, when compared to the incidence of trochlear dysplasia and patella alta in the general population in the literature. This finding could sound as an alert of a possible additional risk factor for post-operative anterior knee pain after ACL reconstruction.

Background: The incidence of infantile Blount disease is rising in parallel to the increasing obesity in children., Material and Methods: Seven children (3 female) between the ages of 17 and 30 months (21.8 ± 4.3 months) were included in the study., Results: All patients had complaints of inward bowing of the legs and excess weight gain. The biochemical and hormonal assessments of all patients yielded normal results. Patients were diagnosed with infantile Blount disease based on clinical, laboratory, and radiological findings., Conclusion: This disease should be differentiated from physiological genu varum, and the potential psychosocial and physical complications are prevented with early diagnosis and treatment.

Objective: To assess the prevalence of skeletal dysplasias (SDs) in patients with idiopathic short stature (ISS) or small for gestational age (SGA) status., Setting: Rare Endocrine/Growth Diseases Center in Paris, France., Design: A prospective study on consecutive patients with ISS and SGA enrolled from 2004 to 2009., Method: We used a standardized workup to classify patients into well-established diagnostic categories. Of 713 patients with ISS (n=417) or SGA status (n=296), 50.9% underwent a skeletal survey. We chose patients labeled normal or with a prepubertal slowdown of growth as a comparison group., Results: Diagnoses were ISS (16.9%), SGA (13.5%), normal growth (24.5%), transient growth rate slowing (17.3%), endocrine dysfunction (12%), genetic syndrome (8.9%), chronic disease (5.1%), and known SD (1.8%). SD was found in 20.9% of SGA and 21.8% ISS patients and in only 13.2% in our comparison group. SD prevalence was significantly higher in the ISS group than in the comparison group, especially (50%) for patients having at least one parent whose height was <-2 SDS. Dyschondrosteosis and hypochondroplasia were the most frequently identified SD, and genetic anomaly was found in 61.5 and 30% respectively. Subtle SD was found equally in the three groups and require long-term growth follow-up to evaluate the impact on final height., Conclusion: SD may explain more than 20% of cases of growth retardation ascribed to ISS or SGA, and this proportion is higher when parental height is <-2 SDS. A skeletal survey should be obtained in patients with delayed growth in a context of ISS or SGA.

Background: In order to investigate the epidemiology and features of Blount disease in Japan, the Japanese Pediatric Orthopaedic Association conducted a multicenter study on Blount disease in 2003., Methods: Questionnaires were sent to 1,350 training hospitals of the Japanese Orthopaedic Association. This study included those with stage I or II diagnosed between 1990 and 2002 and those with stage III or higher diagnosed between 1980 and 2002 based on the Langenskiöld classification. The questionnaire items included age at diagnosis, sex, presence or absence of a family history of bowlegs, past history of trauma, birthplace, age when starting to walk, height and weight at the initial presentation, laterality of the affected knee, disease types (infantile or adolescent), treatments, and plain radiographic findings., Results: The results for 212 patients with 296 affected knees were obtained. The disease types were infantile in 190 patients with 270 affected knees and adolescent in 22 patients with 26 affected knees. There were more girls among cases with both types. Among the infantile-type cases, there were more patients with bilaterally affected knees; however, in the adolescent-type cases, there were more patients with unilaterally affected knees. Patients with either type tended to be obese at diagnosis. There was little difference in age at which patients with either type started to walk, compared with the mean age for the general population. Conservative treatment was applied to most infantile-type cases in stage I or II, whereas surgery was performed in all but one of those with stage III or IV of the disease. Most adolescent-type cases underwent surgery., Conclusions: This was the first multicenter study on Blount disease in Japan. Among 296 knees, the majority of these knees had stage I or II Blount disease. Very few cases had stage III or higher disease, and there were 35 knees with the infantile type and 19 with the adolescent type in the 23 years from 1980 through 2002.

Background: This study investigated whether long-term treatment with antiepileptic drugs (AEDs) had negative effects on statural growth and serum calcium levels in children with epilepsy in Taiwan., Methods: Children with epilepsy treated with one prescription of AEDs (monotherapy) for at least 1 year were selected. The AEDs included valproic acid (VPA; Deparkin) in 27 children (11 boys and 16 girls) aged 4-18 years, oxcarbazepine (Trileptal) in 30 children (15 boys and 15 girls) aged 5-18 years, topiramate (Topamax) in 19 children (10 boys and 9 girls) aged 6-18 years, and lamotrigine (Lamicta) in eight children (5 boys and 3 girls) aged 5-13 years. Patients with a history of febrile convulsions were selected as the controls., Results: One year of VPA treatment significantly impaired the statural growth of pediatric patients with epilepsy (p < 0.005) compared with the control group. The underlying mechanism may have been due to the direct effect of VPA on the proliferation of growth plate chondrocytes rather than alterations of serum calcium., Conclusions: These results raise serious concerns about the growth of pediatric epilepsy patients who use AEDs, and potentially the need to closely monitor growth in children with epilepsy and adolescents under AED treatment, especially VPA.

The possible aetiology of osteochondrosis and, to a lesser extent, other developmental orthopaedic diseases or juvenile osteochondral conditions (JOCC), has been intensively investigated. However, most studies have focused on single factors of this multi-factorial disorder, or have been conducted under experimental conditions. This paper aims to present and discuss the scientific background of the BOSAC (Breeding, Osteochondral Status and Athletic Career) research program, a multi-factorial investigation on JOCC risk factors in field conditions. The epidemiology of JOCC in horses born in Normandy between 2002 and 2004 was studied. Horses were subjected to repeated body measurements, blood sampling and locomotion evaluation from birth until yearling sales. A radiographic examination, including 10 views of the limbs, was performed on each subject at approximately 6 and 17months of age. Information on nutrition and management programmes was collected by specialists from visits to the farms and the use of questionnaires. A total of 393 foals of three French breeds were monitored from birth to weaning, and 321 of these remained available for further follow-up, making the study unique as regards both the number of subjects and the variety of information collected. The study was designed to describe the evolution of JOCC, and determine possible early markers, risk factors and prognostic factors with respect to performance. Relevant data, suitable for epidemiological analyses, were collected under various field conditions that reflect current management practices in Normandy, France's main horse breeding region., (Copyright © 2013 Elsevier Ltd. All rights reserved.)

Conclusion: Otologic and audiologic abnormalities are both highly prevalent in Chinese children with skeletal dysplasias. Audiologic and otologic evaluations with medical intervention are recommended for these children., Objective: Children with skeletal dysplasia have a number of otolaryngologic issues including hearing loss. This study aimed to investigate the otologic and audiologic features of Chinese children with skeletal dysplasia in central China., Methods: Otologic evaluations and pure tone audiometry were performed in children with skeletal dysplasias. To explore the potential associations with hearing loss, we studied various craniofacial anomalies., Results: A total of 125 children (mean age 9.2 years, range 5-18 years) with skeletal dysplasia were enrolled, and otoscopic examination identified eardrum abnormalities in 45.6% of the children. Audiologic analysis revealed 14 cases (11.2%) with conductive hearing loss (CHL) and 22 cases (17.6%) with sensorineural hearing loss (SNHL).

Purpose of Review: Pectus carinatum has been termed the undertreated chest wall deformity. Recent advances in patient evaluation and management, including the development of nonoperative bracing protocols, have improved the care of children with this condition., Recent Findings: Recent evidence confirms that children with pectus carinatum have a disturbed body image and a reduced quality of life. Treatment has been shown to improve the psychosocial outcome of these patients., Summary: Patients with pectus carinatum are at risk for a disturbed body image and reduced quality of life. Until recently, treatment required surgical reconstruction. A growing body of literature, however, now supports the use of orthotic bracing as a nonoperative alternative in select patients. This article reviews the current literature and describes the evaluation and management of children with pectus carinatum deformity.

Background: Prader-Willi syndrome (PWS) is a genetic disorder causing multisystem abnormalities with obesity. Obesity is a well established cause of Blount disease., Methods: A 7-year-old girl with PWS presented with genu varum of the left knee with deformity of the proximal medial tibial condyle, which was consistent with Blount disease., Results: A lateral physeal stapling and subsequent osteotomy for the left proximal tibia and fibula were performed with improved anatomical alignment., Conclusion: Blount disease has not been reported in the literature in association with PWS despite excessive obesity.

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with osseous abnormalities occurring in up to one-third of patients. Several studies have documented osteopenia in both children and adults with NF1; however, the significance of lower bone mineral density (BMD) in relationship to fracture incidence is not well elucidated in NF1, particularly in children. We undertook a retrospective study to determine prevalence and location of fractures in children and adolescents with NF1, ages 5-20 years, using a standardized questionnaire. We surveyed 256 individuals with NF1 from two multidisciplinary NF centers and 178 controls without NF1 of similar ages and sex. Participants with known long bone dysplasia (LBD) were analyzed separately. Data collected included numbers and location of fractures, dietary calcium intake, and physical activity levels. There was no difference in prevalence of ever having a fracture between the NF1 group without LBD (22%) and the control group (25%); median number of fractures also did not differ. There were significant differences in fracture location with a higher frequency of fractures of the lower extremities in NF1 individuals without LBD compared to controls. Both NF1 cohorts had lower rates of physical activity than controls (P < 0.0001). Our data demonstrate that the likelihood of having had a fracture is not higher in young NF1 individuals without LBD in comparison to healthy controls. The lower physical activity level may have a "protective effect" for those with NF1, thus keeping their fracture incidence lower than expected for their relative degree of osteopenia., (Copyright © 2013 Wiley Periodicals, Inc.)

Background: The purpose of the present study was to investigate the radial distribution patterns of cartilage degeneration in dysplastic hips at different stages of secondary osteoarthritis (OA) by using radial delayed gadolinium-enhanced magnetic resonance imaging of cartilage (dGEMRIC), and to assess whether pre-contrast measurements are necessary., Methods: Thirty-five hips in 21 subjects (mean age ± SD, 27.6 ± 10.8 years) with acetabular dysplasia (lateral CE angle < 25°) were studied. Severity of OA was assessed on radiographs using Tönnis grading. Pre- (T1pre) and post-contrast T1 (T1Gd) values were measured at 7 sub-regions on radial reformatted slices acquired from a 3-dimensional (3D) T1 mapping sequence using a 1.5 T MR scanner. Values of radial T1pre, T1Gd and ΔR1 (1/T1Gd - 1/T1pre) of subgroups with different severity of OA were compared to those of the subgroup without OA using nonparametric tests, and bivariate linear Pearson correlations between radial T1Gd and ΔR1 were analyzed for each subgroup., Results: Compared to the subgroup without OA, the subgroup with mild OA was observed with a significant decrease in T1Gd in the anterosuperior to superior sub-regions (mean, 476 ~ 507 ms, p = 0.026 ~ 0.042) and a significant increase in ΔR1 in the anterosuperior to superoposterior and posterior sub-regions (mean, 0.93 ~ 1.37 s-1, p = 0.012 ~ 0.042). The subgroup with moderate to severe OA was observed with a significant overall decrease in T1Gd (mean, 404 ~ 452 ms, p = 0.001 ~ 0.020) and an increase in ΔR1 (mean, 1.17 ~1.69 s-1, p = 0.001 ~ 0.020). High correlations were observed between radial T1Gd and ΔR1 for all subgroups (r = -0.869 ~ -0.944, p < 0.001)., Conclusions: Radial dGEMRIC without pre-contrast measurements is useful for evaluating different patterns of cartilage degeneration in the entire hip joint of patients with hip dysplasia, particularly for those in early stages of secondary OA.

Background: Residual size discrepancy between the affected and unaffected limbs is a distinct but not well-understood consequence of an obstetrical brachial plexus injury. This study aimed to document the extent of limb length differences in children with obstetrical brachial plexus injury compared with typically developing children. The effects of age, growth patterns, severity, and surgical intervention were also explored. Also, this study examined the reliability of the clinical measurement technique., Methods: A prospective cohort of 179 children with obstetrical brachial plexus injury was systematically evaluated for limb length and girth by a multidisciplinary team. Clinical measurements were obtained at regular intervals until 12 months and then yearly. A control group of typically developing children aged 6 months to 17 years had limb length and girth measured on one occasion., Results: Interrater reliability of clinical measurement techniques demonstrated high consistency, with an intraclass correlation of 0.90 (p < 0.0001). Limb measurements were recorded at nine time points. Paired t tests of children with and without surgical intervention found significant differences between affected and unaffected sides in arm, forearm, and total length as early as the 1-month measurement and at most other time points (p < 0.05). The 3-month total limb length difference was a statistically significant predictor of 12-month limb length difference (p < 0.05)., Conclusions: Obstetrical brachial plexus injury significantly affects the length of the arm and forearm. Early detectable limb length deficits are associated with the likelihood of requiring surgical reconstruction. Clinical limb length measurement can be performed reliably and noninvasively.

Background: The congenital orthopaedic anomalies in Thai population had a limited data and the previously studies are based on only hospital chart records., Objective: To determine the incidence of common congenital orthopedic problems by physical examination in newborn at Siriraj Hospital., Material and Method: A prospective study was conducted by physical examination of 3,396 newborns from June 2009 to September 2009. All orthopaedic abnormalities of newborns were recorded along with maternal age, obstetric history of mother, complications during pregnancy, complications in labour stage, mode of delivery and presentation. Sex of newborn, birth weight, body length and APGAR score were recorded., Results: Incidence of calcaneovalgus was found in 60:1,000 live births following by metatarsus adductus in 7.6:1,000, polydactyly or syndactyly in 2.6:1,000, talipes equninovarus in 2.4:1,000, brachial plexus injury in 1.5:1,000, developmental dysplasia of hip in 0.6:1,000, osteogenesis imperfecta in 0.6:1,000, skeketal dysplasia in 0.6:1,000, congenital vertical talus in 0.3: 1,000 and fracture clavicle at birth in 0.3: 1,000., Conclusion: In the present study, the calcaneovalgus was the most common orthopaedic problem followed by metatasus adductus, polydactyly or syndactyly.

Congenital chondrodystrophy of unknown origin (CCUO), often referred to as 'acorn calf disease' or congenital joint laxity and dwarfism (CJLD), has been reported in beef cattle in Canada, the United States, Europe, South Africa, New Zealand and Australia. An association of CCUO with grazing drought-affected pastures, feeding hay-only or silage-only diets or supplementation with apple pulp suggests a nutritional cause such as a mineral deficiency. This review compares published reports on CCUO in order to identify common features among outbreaks and to provide a basis for future research into the condition. A protocol for investigation of outbreaks is provided to improve the outcome of future comparisons., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Background: Although many literature studied the effect of many factors on the prognosis of the early-onset Blount disease, studies that were written on the prognostic factors affecting late onset tibia vara are still limited., Purpose: The aim of this study is to evaluate the prognostic value of the Langenskiold classification system for late onset tibia vara., Methods: Twenty children from the Sporting Health Insurance Student Reference Hospital-Alexandria, with a diagnosis of late onset tibia vara were evaluated for the effect of the Langenskiold staging system on the prognosis after they all had been treated by gradual correction by Ilizarov technique using the so called "juxta-articular hinge assembly" after a mean follow-up period of 4.9 years (range : 4-6, SD 0.75)., Results: The difference in varus recurrence rates between the "low grade group" and "high grade group" was found to be statistically significant (p = 0.008) as will be discussed later. There was no statistically significant relation between the age of the patients at the time of operation, sex, length of the follow up period and the degree of pre-operative varus deformity angle (DA) and the recurrence (p > 0.05)., Conclusion: We concluded that Langenskiold staging system is a reliable, reproducible and a good prognostic factor for late onset tibia vara.

The Utah Birth Defect Network (UBDN) collects population-based data for Utah on births from all resident women. The prevalence of skeletal dysplasias and epidemiologic characteristics/outcomes were evaluated. Cases categorized as a skeletal dysplasia from all live births, stillbirths, and pregnancy terminations (TAB) between 1999 and 2008 were reviewed by three clinical geneticists. After case review, 153 were included for analysis (88% live births, 3% stillborn, 9% TAB), and categorized by groupings defined by molecular, biochemical, and/or radiographic criteria as outlined in the 2010 Nosology and Classification of Genetic Skeletal Disorders. The overall prevalence for skeletal dysplasias was 3.0 per 10,000 births, and 20.0 per 10,000 stillbirths. The most common diagnostic groups were osteogenesis imperfecta (OI; n = 40; 0.79 per 10,000), thanatophoric dysplasia (n = 22; 0.43 per 10,000), achondroplasia (n = 18; 0.35 per 10,000), and cleidocranial dysplasia (n = 6; 0.12 per 10,000). The most common groups based on the 2010 Nosology and Classification of Genetic Skeletal Disorders were the FGFR3 chondrodysplasia group (n = 41; 0.81 per 10,000), the OI/decreased bone density group (n = 40; 0.79 per 10,000), and the type 2 collagen group (n = 10; 0.2 per 10,000). Median age of postnatal diagnosis was 30 days (range 1-2,162). Of those deceased, 88% were prenatally suspected; of those alive 29% prenatally suspected. Median age of death for live born individuals was 1 day (range 1-1,450 days). Previously reported prevalence rates vary, but our data provide a population-based approach not limited to the perinatal/neonatal period. Understanding the range for survival within each group/diagnosis is beneficial for health care providers when counseling families., (Copyright © 2012 Wiley Periodicals, Inc.)

Introduction: The study is a retrospective and prospective analysis of the results of examinations of children for the occurrence of dorsal asymmetry carried out ten years ago and repeated recently., Material and Methods: A group of 100 children and adolescents aged 4-16 years, including 58 girls and 42 boys, was examined initially in 1997 and then re-examined after 10 years (at the age of 14-26). The clinical assessment (Adam's test) was performed each time by the same examiner, the 1st author of this study, using the same methodology and in the same conditions. A Rippstein plurimeter was used for the examination, with differences of 2 degrees or more being regarded as a sign of asymmetry. The prevalence of particular types of dorsal asymmetry was calculated separately for girls and boys, and these results were compared statistically using the squared Chi test., Results: The prevalence of back asymmetry had increased by the time of the second examination, especially the type Th-L sin, the difference being statistically significant (p<0.005). The prevalence of type Th dex- L sin asymmetry had also increased, but the difference was not statistically significant. A statistically significant decrease in prevalence was found for the type Th dex. The prevalence of double-arch and single-arch asymmetry was found to have increased in both genders. The difference between first and second examinations was statistically significant for double-arch asymmetry (p<0.05)., Conclusions: 1. The prevalence of slight dorsal asymmetries increased as the children grew older. 2. The location of dorsal asymmetry often changes after puberty. 3. The 2nd examination showed significant asymmetry indicating scoliosis among some children and adolescents with minor asymmetry observed in the 1st examination.

Summary: High bone mineral density on routine dual energy X-ray absorptiometry (DXA) may indicate an underlying skeletal dysplasia. Two hundred fifty-eight individuals with unexplained high bone mass (HBM), 236 relatives (41% with HBM) and 58 spouses were studied. Cases could not float, had mandible enlargement, extra bone, broad frames, larger shoe sizes and increased body mass index (BMI). HBM cases may harbour an underlying genetic disorder., Introduction: High bone mineral density is a sporadic incidental finding on routine DXA scanning of apparently asymptomatic individuals. Such individuals may have an underlying skeletal dysplasia, as seen in LRP5 mutations. We aimed to characterize unexplained HBM and determine the potential for an underlying skeletal dysplasia., Methods: Two hundred fifty-eight individuals with unexplained HBM (defined as L1 Z-score ≥ +3.2 plus total hip Z-score ≥ +1.2, or total hip Z-score ≥ +3.2) were recruited from 15 UK centres, by screening 335,115 DXA scans. Unexplained HBM affected 0.181% of DXA scans. Next 236 relatives were recruited of whom 94 (41%) had HBM (defined as L1 Z-score + total hip Z-score ≥ +3.2). Fifty-eight spouses were also recruited together with the unaffected relatives as controls. Phenotypes of cases and controls, obtained from clinical assessment, were compared using random-effects linear and logistic regression models, clustered by family, adjusted for confounders, including age and sex., Results: Individuals with unexplained HBM had an excess of sinking when swimming (7.11 [3.65, 13.84], p < 0.001; adjusted odds ratio with 95% confidence interval shown), mandible enlargement (4.16 [2.34, 7.39], p < 0.001), extra bone at tendon/ligament insertions (2.07 [1.13, 3.78], p = 0.018) and broad frame (3.55 [2.12, 5.95], p < 0.001). HBM cases also had a larger shoe size (mean difference 0.4 [0.1, 0.7] UK sizes, p = 0.009) and increased BMI (mean difference 2.2 [1.3, 3.1] kg/m(2), p < 0.001)., Conclusion: Individuals with unexplained HBM have an excess of clinical characteristics associated with skeletal dysplasia and their relatives are commonly affected, suggesting many may harbour an underlying genetic disorder affecting bone mass.