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In-transit metastases (ITM) are defined as metastatic lymph nodes or deposits occurring between the primary tumor and proximal draining lymph node basin. In extremity rhabdomyosarcoma (RMS), they have rarely been reported. This study evaluates the frequency, staging and survival of patients with ITM in distal extremity RMS. Methods: Patients with extremity RMS distal to the elbow or knee, enrolled in the EpSSG RMS 2005 trial between 2005 and 2016 were eligible for this study. Results: One hundred and nine distal extremity RMS patients, with a median age of 6.2 years (range 0–21 years) were included. Thirty seven of 109 (34%) had lymph node metastases at diagnosis, 19 of them (51%) had ITM, especially in lower extremity RMS. 18F-FDG-PET/CT detected involved lymph nodes in 47% of patients. In patients not undergoing 18F-FDG-PET/CT lymph node involvement was detected in 22%. The 5-yr EFS of patients with ITM vs proximal lymph nodes vs combined proximal and ITM was 88.9% vs 21.4% vs 20%, respectively (p = 0.01) and 5-yr OS was 100% vs 25.2% vs 15%, respectively (p = 0.003). Conclusion: Our study showed that in-transit metastases constituted more than 50% of all lymph node metastases in distal extremity RMS. 18F-FDG-PET/CT improved nodal staging by detecting more regional and in-transit metastases. Popliteal and epitrochlear nodes should be considered as true (distal) regional nodes, instead of in-transit metastases. Biopsy of these nodes is recommended especially in distal extremity RMS of the lower limb. Patients with proximal (axillary or inguinal) lymph node involvement have a worse prognosis.

Measurements of osteoarticular relationships and their related soft tissue structures using multiple imaging modalities, play an important role in the diagnosis and management of traumatic and non-traumatic adult ankle and foot disorders. As in the paediatric foot, familiarity with anatomical landmarks/lines related to the adult standard radiographic projections is a necessary prerequisite before their clinical application. It is important to remember that the normal painless adult foot can have a wide range of bony relationships and measured values can indeed be in the abnormal range. Contralateral assessment and comparisons are very important in this respect (Steel et al. 1980). In this chapter the large number of lines, angles and measurements are presented by grouping them under the heading of the standard radiographic view that allows their evaluation to be made. Weight-bearing films are essential as there are significant measurement differences from non-weight-bearing radiographic measurements. More detailed coverage of the main angles then follows. In particular special attention is given to the difficulties in evaluating the distal tibiofibular syndesmosis and the current roles that CT, MRI and US play in its evaluation in trauma and post-operative scenarios. Attention to the important soft tissue structures is then included emphasizing the role of US and MRI in evaluating the dimensions and morphological features of ligaments and tendons.

Purpose The aim of this study was to investigate whether post-mortem computed tomography (PMCT) provides additional information regarding the cause of death and underlying diseases in a general practitioners’ (GP), out-of-hospital population. Methods and materials Bodies donated to our anatomy department between January 2014 and January 2018, who consecutively underwent a total body PMCT and had given permission for retrieval of their medical records during life, were included. PMCT scans were assessed by a radiologist and compared with the cause of death as stated in the medical records. Discrepancies were analyzed with an adjusted Goldman classification. Results Ninety-three out of the 274 scanned donors during the inclusion period had given consent for the retrieval of their medical records, of which 79 GP’s responded to the request thereof (31 men, 48 women, average age 72.8 years, range 36–99). PMCT identified 49 (62%) cases of cancer, 10 (12.7%) cardiovascular diseases, 8 (10.1%) severe organ failures, 5 (6.3%) cases with signs of pneumonia, 2 (2.5%) other causes, and 7 (8.9%) cases without an (underlying) definitive cause of death. Eleven major discrepancies on the Goldman classification scale, with possible relevance to survival between PMCT and GP records, were identified. Conclusion PMCT can have added value for the detection of additional findings regarding the cause of death in an out-of-hospital, GP’s population, especially to identify or exclude major (previously non-diagnosed) underlying diseases.

Radiation exposure to the thyroid gland during treatment of childhood, adolescent and young adult cancer (CAYAC) may cause differentiated thyroid cancer (DTC). Surveillance recommendations for DTC vary considerably, causing uncertainty about optimum screening practices. The International Late Effects of Childhood Cancer Guideline Harmonization Group, in collaboration with the PanCareSurFup Consortium, developed consensus recommendations for thyroid cancer surveillance in CAYAC survivors. These recommendations were developed by an international multidisciplinary panel that included 33 experts in relevant medical specialties who used a consistent and transparent process. Recommendations were graded according to the strength of underlying evidence and potential benefit gained by early detection and appropriate management. Of the two available surveillance strategies, thyroid ultrasound and neck palpation, neither was shown to be superior. Consequently, a decision aid was formulated to guide the health care provider in counseling the survivor. The recommendations highlight the need for shared decision making regarding whether to undergo surveillance for DTC and in the choice of surveillance modality. (C) 2017 Elsevier Ltd. All rights reserved.

Aims To develop an expert consensus statement regarding appropriate clinical and forensic post mortem neurological imaging. Methods An expert panel of clinicians were recruited from registered members of the British Neuropathological Society (BNS) and the International Society of Forensic Radiology and Imaging (ISFRI) with post mortem expertise. Following a focus group meeting, 16 core statements were incorporated into an online modified Delphi survey and each panellist was asked to score their level of agreement. Following the first iteration, two statements that failed to reach consensus were modified and re-rated. Consensus was predefined as 75% agreement across responders. Results Seventeen experts joined the panel and 12 (70.6%) attended the focus group meeting; 14 (82%) completed both iterations of the survey. Consensus was reached for need of adequate clinical history, multidisciplinary discussion, establishment of special interest groups to discuss cases, gathering further evidence to inform imaging choices, establishment of methods for quality assessment in reporting standards and adequate funding for imaging services. The panel agreed that pathologists should be responsible for neuroimaging referrals, collating results of ancillary tests, and producing the final post mortem report. Areas requiring further discussion include the impact of double reporting, indications for neuroimaging and utilities of three-dimensional printing. Conclusion The BNS/ISFRI statement represents current views of an expert panel of health professionals engaged in post-mortem neuroimaging. We hope this provides a working guideline for less experienced operators, stimulates discussion and highlights the most pressing clinical and research questions.

Contains fulltext : 193604.pdf (Publisher’s version ) (Open Access) Clinical post-mortem radiology is a relatively new field of expertise and not common practice in most hospitals yet. With the declining numbers of autopsies and increasing demand for quality control of clinical care, post-mortem radiology can offer a solution, or at least be complementary. A working group consisting of radiologists, pathologists and other clinical medical specialists reviewed and evaluated the literature on the diagnostic value of post-mortem conventional radiography (CR), ultrasonography, computed tomography (PMCT), magnetic resonance imaging (PMMRI), and minimally invasive autopsy (MIA). Evidence tables were built and subsequently a Dutch national evidence-based guideline for post-mortem radiology was developed. We present this evaluation of the radiological modalities in a clinical post-mortem setting, including MIA, as well as the recently published Dutch guidelines for post-mortem radiology in foetuses, neonates, and children. In general, for post-mortem radiology modalities, PMMRI is the modality of choice in foetuses, neonates, and infants, whereas PMCT is advised in older children. There is a limited role for post-mortem CR and ultrasonography. In most cases, conventional autopsy will remain the diagnostic method of choice. CONCLUSION: Based on a literature review and clinical expertise, an evidence-based guideline was developed for post-mortem radiology of foetal, neonatal, and paediatric patients. What is Known: * Post-mortem investigations serve as a quality check for the provided health care and are important for reliable epidemiological registration. * Post-mortem radiology, sometimes combined with minimally invasive techniques, is considered as an adjunct or alternative to autopsy. What is New: * We present the Dutch guidelines for post-mortem radiology in foetuses, neonates and children. * Autopsy remains the reference standard, however minimal invasive autopsy with a skeletal survey, post-mortem computed tomography, or post-mortem magnetic resonance imaging can be complementary thereof.

We present a unique case of a four-week-old boy who died of a severe hypoxic encephalopathy due to a subdural hematoma. A week before his demise, a small left sided parieto-occipital subdural hemorrhage was seen on both CT and MRI. On the right side a larger, fronto-parietal subdural hemorrhage was present with a prominently defined protuberance to the right hemisphere, causing a midline shift to the left. Subdural hematomas have a broad differential diagnosis, including abusive head trauma which can have far reaching consequences. In order to diagnose the underlying cause of the subdural hematoma, and subsequently confirm or refute the differential diagnosis, a medicolegal autopsy was ordered. The autopsy revealed a rare primary intraosseous vascular malformation of the skull, at the location of the subdural hematoma. This, in combination with the coagulation disorder due to alpha-1-antitrypsin deficiency, was considered to be the underlying cause of death.

Objectives The incidence of children developing metachronous contralateral inguinal hernia (MCIH) is 7–15%. Contralateral groin exploration during unilateral hernia repair can prevent MCIH development and subsequent second surgery and anaesthesia. Preoperative ultrasonography is a less invasive strategy and potentially able to detect contralateral patent processus vaginalis (CPPV) prior to MCIH development. Methods We queried MEDLINE, Embase and Cochrane library to identify studies regarding children aged < 18 years diagnosed with unilateral inguinal hernia without clinical signs of contralateral hernia, who underwent preoperative ultrasonography of the contralateral groin. We assessed heterogeneity and used a random-effects model to obtain pooled estimates of sensitivity, specificity and area under the receiver operating characteristic curve (AUC). Results Fourteen studies (2120 patients) were included, seven (1013 patients) in the meta-analysis. In studies using surgical exploration as reference test (n = 4, 494 patients), pooled sensitivity and specificity were 93% and 88% respectively. In studies using contralateral exploration as reference test following positive and clinical follow-up after negative ultrasonographic test results (n = 3, 519 patients), pooled sensitivity was 86% and specificity 98%. The AUC (0.984) shows high diagnostic accuracy of preoperative ultrasonography for detecting CPPV, although diagnostic ultrasonographic criteria largely differ and large heterogeneity exists. Reported inguinal canal diameters in children with CPPV were 2.70 ± 1.17 mm, 6.8 ± 1.3 mm and 9.0 ± 1.9 mm. Conclusion Diagnostic accuracy of preoperative ultrasonography to detect CPPV seems promising, though may result in an overestimation of MCIH prevalence, since CPPV does not invariably lead to MCIH. Unequivocal ultrasonographic criteria are mandatory for proper diagnosis of CPPV and subsequent prediction of MCIH. Key Points • Diagnostic accuracy of preoperative ultrasonography for detection of CPPV in children with unilateral inguinal hernia is high. • Preoperative ultrasonographic evaluation of the contralateral groin assumedly results in an overestimation of MCIH prevalence. • Unequivocal ultrasonographic criteria are mandatory for proper diagnosis of CPPV and risk factor identification is needed to predict whether CPPV develops into clinically apparent MCIH. Electronic supplementary material The online version of this article (10.1007/s00330-018-5625-6) contains supplementary material, which is available to authorized users.

Objective: Post-mortem computed tomography (PMCT) is an established method for disease, complications, and cause of death determination in both clinical and forensic cases. By adding intravascular infusion of contrast medium, computed tomography angiography (PMCTA) provides additional information on vascular structures and hemorrhages. When easily applicable and low in costs, this technique would be more frequently applied and of additional value to clinical and educational purposes, particularly in forensic scientific context. Materials and Methods: PMCTA was performed on 10 bodies of the anatomy department. First, a metal T-piece was inserted into the femoral artery as part of standard practice for conservation. Secondly, surplus contrast medium with sodium chloride was infused into the body through a catheter tube set attached to the metal T-piece, using a readily available enteroclysis pump from our radiology department. Results: With added costs of approximately € 266 (personnel and materials) and an additional procedure time of 15-20 minutes, successful infusion of contrast mixture was achieved with the enteroclysis pump. Partial or complete opacification was measured in 89% of arteries, with enhancement of soft tissue visualization. Conclusion: This study successfully evaluated an inexpensive and easy to use method to perform PMCTA for post-mortem investigations.

Rickets and residual rickets are often encountered in Dutch archeological skeletal samples. However, no archeological Dutch paleopathological case of adult osteomalacia has been described in literature to date. This paper describes the first four archeological Dutch paleopathological cases of osteomalacia and assesses the value of the various modalities (macroscopic assessment, radiology and histology) that may be used for diagnosis. The skeletal remains investigated originate from the Meerenberg psychiatric hospital cemetery in Bloemendaal, the Netherlands, and date from 1891 - 1936. The remains of 69 adult individuals were inspected for macroscopic lesions which may be associated with osteomalacia. In cases suspect for osteomalacia, complimentary radiological and histological investigations (BSE-SEM and light microscopy) were performed. Macroscopically, four individuals presented with lesions (highly) suggestive of osteomalacia. Histological examination (both BSE-SEM and light microscopy) provided valuable information to come to an eventual diagnosis of osteomalacia in all four cases. Light microscopy proved to be an feasible alternative for BSE-SEM. The added value of radiological analyses was limited. The individuals identified were most likely patients in the psychiatric hospital, and the reason for their institutionalization and/or the regime in the institution may have played a role in the development of the osteomalacia observed.

Background: Treatment of differentiated thyroid carcinoma (DTC) often involves administration of radioactive iodine (I-131) for remnant ablation or adjuvant therapy. As DTC has favorable outcome and the incidence is increasing, concerns have been raised about the possible adverse effects of I-131 therapy. We systematically reviewed the literature to examine the risk of intermediate and long-term adverse effects of I-131 therapy in DTC patients. Methods: Multiple electronic databases were searched up to November 2014 for English-language, controlled studies that reported on the risk of salivary gland dysfunction, lacrimal gland dysfunction, gonadal dysfunction, female reproductive outcomes or second primary malignancies (SPM) after I-131 exposure. The certainty of the evidence found was assessed using GRADE. Results: In total, 37 articles met all inclusion criteria, no studies reporting on adverse effects after I-131 treatment focused solely on children. After exposure to I-131 for DTC, patients experienced significantly more frequently salivary gland dysfunction (prevalence range: 16-54%, moderate-level evidence), lacrimal gland dysfunction (prevalence: 11%, low-level evidence), transient male gonadal dysfunction (prevalence: 35-100%, high-level evidence), transient female gonadal dysfunction (prevalence: 28%, low-level evidence) and SPM (prevalence: 2.7-8.7%, moderate-level evidence) compared to unexposed patients. I-131 therapy seems to have no deleterious effects on female reproductive outcomes (very-low level evidence). The prevalence and severity of adverse effects were correlated to increasing cumulative I-131 activity. Conclusion: Treatment with I-131 for DTC may have significant adverse effects, which seem to be dose dependent. These adverse effects of treatment must be balanced when choosing for I-131 therapy in patients with DTC. (C) 2015 Elsevier Ltd. All rights reserved.

We present a case of a previously healthy, five month old boy who, after a short history of mild abdominal complaints died unexpectedly. In this case no parental permission for a conventional autopsy could be obtained on religious grounds, but a and post-mortem CT was consented to and performed. Based on the clinical evaluation combined with PMCT findings a probable cause of death, ileosigmoid knotting, could be established.

We present two cases of infants who died under suspicious circumstances. After clinical and legal investigations, non-accidental constrictive asphyxia inflicted by one of the parents was established. The first case presents a to date not yet reported, unique mechanism of trauma. In order to stop his daughter from crying, the father admitted that he sometimes sat on his baby while she was lying on the bed. Occasionally increasing his force by pulling with his hands on the bottom of the bed. In the second case tight swaddling and encircling chest compression was the causative mechanism. In both cases the father was sentenced to imprisonment with mandate psychiatric care. Only two previous reports of this uncommon and relatively unknown cause of child abuse, called constrictive asphyxia, are known. In all reported cases static loading of the chest resulted in rib fractures and demise of the child. This rare abusive mechanism should be known to pediatric radiologists and pathologists.

This paper presents the outcome of the first international forensic radiology and imaging research summit, organized by the International Society of Forensic Radiology and Imaging, the International Association of Forensic Radiographers, the National Institute of Justice of the United States of America, and the Netherlands Forensic Institute. During this meeting, an international and multidisciplinary panel of forensic scientists discussed the current state of science in forensic radiology, and drafted a research agenda to further advance the field. Four groups for further research focus were identified: big data and statistics, identification and biological profiling, multimodal imaging, and visualization and presentation. This paper describes each of these research topics and thereby hopes to contribute to the development of this exciting new field of forensic medical science.

OBJECTIVES: To determine whether imaging findings can be used to differentiate between impact and non-impact head trauma in a group of fatal and non-fatal abusive head trauma (AHT) victims. METHODS: We included all AHT cases in the Netherlands in the period 2005-2012 for which a forensic report was written for a court of law, and for which imaging was available for reassessment. Neuroradiological and musculoskeletal findings were scored by an experienced paediatric radiologist. RESULTS: We identified 124 AHT cases; data for 104 cases (84%) were available for radiological reassessment. The AHT victims with a skull fracture had fewer hypoxic ischaemic injuries than AHT victims without a skull fracture (p=0.03), but the relative difference was small (33% vs. 57%). There were no significant differences in neuroradiological and musculoskeletal findings between impact and non-impact head trauma cases if the distinction between impact and non-impact head trauma was based on visible head injuries, as determined by clinical examination, as well as on the presence of skull fractures. CONCLUSIONS: Neuroradiological and skeletal findings cannot discriminate between impact and non-impact head trauma in abusive head trauma victims. Language: en

Introduction Blunt abdominal trauma (BAT) is an important but often unrecognized cause of death in children. Imaging plays a vital role in the early detection of abdominal trauma. The exact role of imaging in the management of BAT in children is still under research. The aim of this study was to assess diagnostic accuracy of a step-up imaging strategy, where the decision to observe or to perform an intervention depends on the vital parameters of the patient, in combination with the presence or absence of free fluid at Focused Assessment with Sonography for Trauma (FAST) and the findings on CT (performed selectively), for pediatric patients presenting to the ED with a blunt abdominal trauma. Methods Consecutive patients aged ≤16 years admitted between January 2008 and December 2012 to a Dutch level 1 trauma centre were included in this retrospective study. Sensitivity, negative predictive value (NPV) and the negative likelihood ratio (LR−) of the imaging strategy were calculated. Results The cohort consisted of 122 patients; 66 (54%) patients were discharged home after primary survey, 51 (41%) patients were admitted and observed, 3 (2%) patients underwent transarterial embolization and 2 (2%) patients underwent surgery. Treatment failed in 1 patient, initially selected for observation. The sensitivity of the imaging strategy was 0.833 (0.446–0.990). The NPV and LR− were 0.991 (0.963–1.000) and 0.167 (0.028–0.997), respectively. Conclusion The step-up imaging strategy that is applied in our academic level 1 trauma centre has a high sensitivity and a high negative predictive value. No clinically relevant injuries were missed without doing unnecessary harm, e.g. radiation or an intervention.

Bone age determination from hand radiographs is one of the oldest radiographic procedures. The first atlas was published by Poland in 1898, and to date the Greulich Pyle atlas, although it dates from 1959, is still the most commonly used method. Bone age rating is time-consuming, suffers from an unsatisfactorily high rater variability, and therefore already 25 years ago it was proposed to replace the manual rating by an automated, computerized method, a field nowadays referred to as computer-aided diagnosis (CAD). The pursuit of this goal reached a first stage of accomplishment in 1992–1996 with the presentation of several systems. However, they had limited clinical value, and efforts in CAD research were increasingly focused on lesion detection for cancer screening. It was only in 2008 that a fully-automated bone age method was presented, which appears to be clinically acceptable. In this paper we consider the requirements that should be met by an automated bone age method and review the state of the art. Integration in PACS and saving time are important factors for radiologists. But it is the validation of the methods which poses the greatest challenge, because there is no gold standard for bone age rating, and the direct comparison to manual rating is therefore not sufficient for demonstrating that manual rating can be replaced by automated rating. One needs additional studies assessing the precision of a method and its accuracy when used for adult height prediction, which serves as an objective.

Introduction In cases of neonaticide with delayed finding of the body, interpretation of autopsy results can be difficult because of decomposition. Postmortem computed tomography (PMCT) has become an increasingly popular tool in the (pediatric) forensic field. We performed a retrospective study to compare the outcome of PMCT with autopsy results in suspected neonaticide, in neonates found more than one week after their demise. We compared the performance of both methods on (1) determining gestational age, (2) differentiating between live birth and still birth and (3) determining cause of death. Method We selected all consecutive neonaticide cases with an estimated postmortem interval longer than one week, who underwent a forensic autopsy including a total body PMCT in the Netherlands Forensic Institute in the period 2008–2012. Both a pathologist and radiologist scored gestational age, signs of live birth and cause of death for each case. Results 22 cases of neonaticide were identified in the study period, of which 15 cases were estimated to be found more than 1 week after death. In 12 of these a total body PMCT was performed. In all cases, late postmortem changes were present. Gestational age could be assessed with PMCT in 100% of the cases and with autopsy in 58% of the cases. In all cases neither PMCT nor autopsy was able to assess live birth and cause of death. Conclusion PMCT is a better tool for estimating gestational age in case of suspected neonaticide with late postmortem changes compared to autopsy and should therefore be a standard part of the work-up. Signs of live birth and cause of death could not be determined with neither of the methods, an adjusted post mortem examination including limited autopsy for these cases might be developed.

Defecation-related functional gastrointestinal disorders (FGIDs), such as infant dyschezia, functional constipation and functional non-retentive faecal incontinence, as defined by the Rome IV criteria, are common problems in childhood. The symptomatology varies from relatively mild, such as crying before passage of soft stools or infrequent defecation to severe problems with faecal impaction and the daily involuntary loss of faeces in the underwear. Conventional radiography is widely available, relatively cheap and is non-invasive. The drawback however, is radiation exposure. This review describes and evaluates the value of different existing scoring methods to assess faecal loading on an abdominal radiograph with or without the use of radio-opaque markers, to measure colonic transit time, in the diagnosis of these defecation-related FGIDs. Insufficient evidence exists for a diagnostic association between clinical symptoms of functional constipation or functional nonretentive faecal incontinence and faecal loading on an abdominal radiograph. Furthermore, evidence does not support the routine use of colonic transit studies to diagnose functional constipation. Colonic transit time measurement may be considered in discriminating between functional constipation and functional non-retentive faecal incontinence and in patients in which the diagnosis is not clear such as having an unreliable medical history. In children with the suspicion of defecation-related FGIDs, the diagnosis should be made based on the Rome IV criteria.

Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detail the prenatal clinical and sonographic findings of a recently described hereditary caudal regression syndrome, in four fetuses reported to be homozygous for a mutation in the T (brachyury) gene. The syndrome occurred in three consanguineous, but unrelated families, originating from the same geographical area. All affected fetuses had persistence of the notochord in association with abnormal vertebral ossification, sacral agenesis, and bilateral clubfoot. These findings suggest that, in case of prenatal diagnosis of sacral agenesis, an advanced ultrasound examination should assess the vertebral ossification and the rare persistence of the notochord, in order to rule the involvement of the T gene.

Background Laterality defects are quite common in thoracoileopagus and parapagus dicephalus but rare in other types of conjoined twins. Objective To present the presumed laterality defects in cephalothoracoileopagus and prosopothoracoileopagus conjoined twins, based on the unilateral or bilateral absence or duplication of the spleen. Materials and methods Three human anatomical specimens of craniothoracoileopagus (CTIP) twins and one of prosopothoracoileopagus (PTIP) twins were investigated. The specimens were part of the Museum Vrolik collection of the Department of Anatomy and Embryology of the Academic Medical Centre, University of Amsterdam, The Netherlands. The specimens were taken out of their jars and scanned with multidetector CT and volumetric T2-weighted MRI at 1.5 T. Results The internal anatomy of the specimens was largely in accordance with previous reports. However, there was no recognisable spleen in the right twin in one CTIP specimen, in the left twin in one other CTIP specimen, and in both twins in the third CTIP specimen and in the PTIP specimen. Conclusion Asplenia and polysplenia are considered reliable indicators of right and left isomerism, respectively. However, three of our four specimens had laterality patterns that did not correspond with those previously reported. Since no other parameters of laterality defects could be verified in these specimens, we concluded that asplenia was unlikely to be caused by laterality defects.

We report an Indonesian patient with bone fragility and congenital joint contractures. The initial diagnosis was Osteogenesis Imperfecta type III (OI type III) based on clinical and radiological findings. Because of (i) absence of COL1A1/2 mutations, (ii) a consanguineous pedigree with a similarly affected sibling and (iii) the existence of congenital joint contractures with absence of recessive variants in PLOD2, mutation analysis was performed of the FKBP10 gene, recently associated with Bruck syndrome and/or recessive OI. A novel homozygous deletion in FKBP10 was discovered. Our report of the first Indonesian patient with clinically Bruck syndrome, confirms the role of causative recessive FKBP10 mutations in this syndrome. (C) 2011 Elsevier Masson SAS. All rights reserved

Osteogenesis imperfecta (OI) is characterized by susceptibility to bone fractures, with a severity ranging from subtle increase in fracture frequency to prenatal fractures. The first scientific description of OI dates from 1788. Since then, important milestones in OI research and treatment have, among others, been the classification of OI into 4 types (the ‘Sillence classification’), the discovery of defects in collagen type I biosynthesis as a cause of most cases of OI and the use of bisphosphonate therapy. Furthermore, in the past 5 years, it has become clear that OI comprises a group of heterogeneous disorders, with an estimated 90% of cases due to a causative variant in the COL1A1 or COL1A2 genes and with the remaining 10% due to causative recessive variants in the 8 genes known so far, or in other currently unknown genes. This review aims to highlight the current knowledge around the history, epidemiology, pathogenesis, clinical/radiological features, management, and future prospects of OI. The text will be illustrated with clinical descriptions, including radiographs and, where possible, photographs of patients with OI.

Abusive head trauma (AHT) is one of the most severe forms of physical child abuse. If a child initially survives severe AHT the neurological outcome can be poor. In recent years several children were seen who developed multicystic encephalomalacia (MCE) after documented severe AHT. A search of the Netherlands Forensic Institute database in The Hague was performed. Inclusion criteria were cases of AHT between 1999 and 2010 where the child was under the age of 1 year old at the time of trauma. Trauma mechanism and radiological information were collected. Five children, three boys and two girls (mean age 57 days, range 8–142 days) who developed cystic encephalomalacia after inflicted traumatic brain injury were included. Survival ranged from 27 to 993 days. In all cases judicial autopsy was performed. All cases came before court and in each case child abuse was considered to be proven. In two cases the perpetrator confessed, during police interrogation, to shaking of the child only. Although a known serious outcome, this is one of the few reports on MCE as a result of AHT. In all cases the diagnosis was confirmed at autopsy.

Sex estimation techniques are frequently applied in forensic anthropological analyses of unidentified human skeletal remains. While morphological sex estimation methods are able to endure population differences, the classification accuracy of metric sex estimation methods are population-specific. No metric sex estimation method currently exists for the Dutch population. The purpose of this study is to create Dutch population specific sex estimation formulae by means of osteometric analyses of the proximal femur. Since the Netherlands lacks a representative contemporary skeletal reference population, 2D plane reconstructions, derived from clinical computed tomography (CT) data, were used as an alternative source for a representative reference sample. The first part of this study assesses the intra- and inter-observer error, or reliability, of twelve measurements of the proximal femur. The technical error of measurement (TEM) and relative TEM (%TEM) were calculated using 26 dry adult femora. In addition, the agreement, or accuracy, between the dry bone and CT-based measurements was determined by percent agreement. Only reliable and accurate measurements were retained for the logistic regression sex estimation formulae; a training set (n = 86) was used to create the models while an independent testing set (n = 28) was used to validate the models. Due to high levels of multicollinearity, only single variable models were created. Cross-validated classification accuracies ranged from 86% to 92%. The high cross-validated classification accuracies indicate that the developed formulae can contribute to the biological profile and specifically in sex estimation of unidentified human skeletal remains in the Netherlands. Furthermore, the results indicate that clinical CT data can be a valuable alternative source of data when representative skeletal collections are unavailable.

Foreign body aspiration is frequently encountered in young children, in the majority of cases it will not lead to an adverse outcome. However, in case of coin battery ingestion more serious adverse outcomes, including death, have been reported. We present a case with fatal outcome due to exsanguination, of a 2-year-old child with an aberrant right subclavian artery (or arteria lusoria) and coin battery ingestion. Radiological and autopsy findings and relevant literature are discussed.

Summary Hand radiographs are obtained routinely to determine bone age of children. This paper presents a method that determines a Paediatric Bone Index automatically from such radiographs. The Paediatric Bone Index is designed to have minimal relative standard deviation (7.5%), and the precision is determined to be 1.42%. Introduction We present a computerised method to determine bone mass of children based on hand radiographs, including a reference database for normal Caucasian children. Methods Normal Danish subjects (1,867), of ages 7–17, and 531 normal Dutch subjects of ages 5–19 were included. Historically, three different indices of bone mass have been used in radiogrammetry all based on \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$ A = \pi {\text{ }}T{\text{ }}W\left( {{\text{1}} - T/W} \right) $$\end{document}, where T is the cortical thickness and W the bone width. The indices are the metacarpal index A/W2, DXR-BMD = A/W, and Exton-Smith’s index A/(WL), where L is the length of the bone. These indices are compared with new indices of the form A/(WaLb), and it is argued that the preferred index has minimal SD relative to the mean value at each bone age and sex. Finally, longitudinal series of X-rays of 20 Japanese children are used to derive the precision of the measurements. Results The preferred index is A/(W1.33L0.33), which is named the Paediatric Bone Index, PBI. It has mean relative SD 7.5% and precision 1.42%. Conclusions As part of the BoneXpert method for automated bone age determination, our method facilitates retrospective research studies involving validation of the proposed index against fracture incidence and adult bone mineral density.

Cerebral arterial air embolism (CAAE) has been reported as a rare complication of medical intervention. There has been one reported case of CAAE after the use of an intraosseous infusion (IO) system. We report on a case of CAAE after tibial IO infusion in a 7-month-old girl during resuscitation.

We report a case of neonatal dural sinus malformation already visible on antenatal ultrasound. This is a rare disease entity in infants and children. Clinical diagnosis was made by demonstrating a cranial murmur on auscultation; macrocrania and signs of progressive cardiac failure. Imaging studies as cerebral ultrasound, postnatal MRI scan and MR angiography demonstrated a large dural sinus malformation originating from the sagittal sinus with extensive arteriovenous fistulae. Due to the extent of the lesion, the existing ischemic brain damage and involvement of the torcular, no therapeutic options were available and the child died of irreversible cardiac failure. The diagnosis was confirmed with autopsy. We discuss the clinical presentation, imaging and neuropathological results and relate our findings to embryological data and the existing literature.

Objective: Acute respi- ratory tract infection is a common reason for hospitalization in children with Down syndrome (CDS) and is characterized by a high morbidity. The severe course of disease in CDS may be related to a higher incidence of acute lung injury (ALI). This study evaluated the incidence of ALI and acute respiratory distress syndrome (ARDS) in mechanically ventilated CDS. Design and setting: Retrospec- tive cohort study in a pediatric ICU. Patients and participants: Cases were all mechanically ventilated CDS admitted to our unit between January 1998 and July 2005. All mechanically ventilated patients without Down syn- drome from January 1998 to January 2001 served as controls. Postopera- tive patients (cases and controls) and those with a cardiac left to right shunt were excluded. Measurements and results: The main outcome measure was the incidence of ALI and ARDS. The criteria for ALI were met in 14 of 24 CDS (58.3%) in 41 of 317 of controls (12.9%; OR 9.4, 95% CI 3.9-22.6). The criteria for ARDS were met in 11 of 24 CDS (46%) and in 21 of 317 of controls (7%;OR 11.9, 95% CI 4.8-29.8). None of the CDS with ALI died; in the control group ten patients with ALI died. Conclu- sions: CDS had a significantly higher incidence of ALI and ARDS than children without Down syndrome. The explanation for this remains to be elucidated; further study is necessary before clinical implications become clear.

Introduction The purpose of this study was to assess occurrence of fluid stasis in the sinus, trachea and mainstem bronchi on PMCT. Materials and methods Patients were collected from different groups, two adult and two paediatric groups. Patients who died from drowning or evident trauma to head and neck were excluded. Results Adults Two-hundred-and-one PMCT scans, 118 (59%) males and 83 (41%) females. Age was known for 185/201 subjects (92%), median was 79 years (IQR 66–85 years). The frontal sinus contained fluid in 13/194 (7%), the left maxillary sinus contained fluid in 31/198 (16%), the right in 42/198 (21%). In 19/201 (9%) fluid was present in the trachea at the level of the subglottis, in 37/201 (18%) at the midlevel, 72/201 (36%) at the carina, 91/201 (45%) at the left and in 82/201 (41%) at the right mainstem bronchus. Children Seventy-seven PMCT scans, 42 (55%) boys and 35 (45%) girls. median age was 0.5 years (IQR 3 months–6 years). The frontal sinus contained fluid in 3/76 (4%), the left maxillary sinus in 14/52 (27%), the right in 13/52 (25%), in 18/77 (24%) fluid was present in the trachea at the subglottic level, in 32/77 (42%) at the midlevel, in 36/77 (47%) at the level of the carina, in 34/77 (44%) at the left and in 37/77 (48%) at the right main stem bronchus. Conclusion The presence of fluid in the sinuses, trachea and/or mainstem bronchi Is common in non-drowning cases and Is a normal finding in PMCT.

This paper describes an investigation of the sudden and unexpected death of a five-and-a-half-month-old boy. As in every Dutch case of sudden unexpected death in infancy (SUDI), a multidisciplinary diagnostic approach was used. This included post-mortem radiography, showing a linear discontinuity of the parietal bone. Originally this was interpreted as a skull fracture, but autopsy indicated no signs of mechanical trauma. Instead the defect was defined as a unilateral accessory suture of the parietal bone. The initial erroneous diagnosis had severe adverse consequences and thus every health care professional or forensic specialist dealing with paediatric mechanical traumas should be cautious of this rare anomaly.

Purpose Treatment with I-131-MIBG is associated with significant thyroid damage. This study was undertaken to investigate the long-term efficacy of current thyroid prophylaxis, to explore the relationship between thyroid dysfunction and thyroid volume after exposure to I-131-MIBG and to evaluate the possible negative effects of I-131-on the parathyroid glands. Methods Of 81 long-term surviving patients with neuroblastoma treated with I-131-MIBG during the period 1999-2012, 24 were finally evaluated. Patients received thyroxine (T4), methimazole and potassium iodide as thyroid protection. In all patients (para) thyroid function was evaluated and ultrasound investigation of the (para) thyroid gland(s) was performed. Thyroid dysfunction was defined as a plasma thyrotropin concentration >5.0 mU/L (thyrotropin elevation, TE) or as the use of T4 at the time of follow-up. Hyperparathyroidism was defined as a serum calcium concentration above the age-related reference range in combination with an inappropriately high parathyroid hormone level. Results At a median follow-up of 9.0 years after I-131-MIBG treatment, thyroid disorders were seen in 12 patients (50 %; 9 with TE, 5 with a thyroid nodule and 1 patient was subsequently diagnosed with differentiated thyroid carcinoma). No significant risk factors for the occurrence of thyroid damage could be identified. In 14 of 21 patients (67 %) in whom thyroid volume could be determined, the volume was considered small (

Background: There is no international consensus on surveillance strategies for differentiated thyroid carcinoma (DTC) after radiotherapy for childhood cancer. Ultrasonography could allow for early detection of DTC, however, its value is yet unclear since the prognosis of DTC is excellent. We addressed the evidence for the question: 'is outcome of DTC influenced by tumor stage at diagnosis?'. Methods: A multidisciplinary working group answered the sub-questions: 'is recurrence or mortality influenced by DTC stage at diagnosis? Does detection of DTC at an early stage contribute to a decline in adverse events of treatment?' The literature was systematically reviewed, and conclusions were drawn based on the level of evidence (A: high, B: moderate to low, C: very low). Results: In children, level C evidence was found that detection of DTC at an early stage is associated with lower recurrence and mortality rates. No evidence was found that it influences morbidity rates. In adults, clear evidence was found that less advanced staged DTC is a favorable prognostic factor for recurrence (level B) and mortality (level A). Additionally, it was found that more extensive surgery increases the risk to develop transient hypoparathyroidism (level A) and that higher doses of radioiodine increases the risk to develop second primary malignancies (level B). Conclusion: Identification of DTC at an early stage is beneficial for children (very low level evidence) and adults (moderate to high level evidence), even considering that the overall outcome is excellent. These results are an important cornerstone for the development of guidelines for childhood cancer survivors at risk for DTC. (C) 2014 Elsevier Ltd. All rights reserved.

Item does not contain fulltext BACKGROUND: Initial antibiotic treatment for acute appendicitis has been shown to be safe in adults; so far, not much is known about the safety and efficacy of this treatment in children. The aims of this study were to investigate the feasibility of a randomized controlled trial (RCT) evaluating initial antibiotic treatment for acute appendectomy in children with acute simple appendicitis and to evaluate the safety of this approach. METHODS: In a multicenter, prospective cohort study patients aged 7-17 years with a radiologically confirmed simple appendicitis were eligible. Intravenous antibiotics (amoxicillin/clavulanic acid 250/25 mg/kg 4 times daily; maximum 6,000/600 mg/d and gentamicin 7 mg/kg once daily) were administered for 48-72 hours. Clinical reevaluation every 6 hours, daily blood samples, and ultrasound follow-up after 48 hours was performed. In case of improvement after 48 hours, oral antibiotics were given for a total of 7 days. At any time, in case of clinical deterioration or non-improvement after 72 hours, an appendectomy could be performed. Follow-up continued until 8 weeks after discharge. Adverse events were defined as major complications of antibiotic treatment, such as allergic reactions, perforated appendicitis, and recurrent appendicitis. RESULTS: Of 44 eligible patients, 25 participated (inclusion rate, 57%; 95% CI, 42%-70%). Delayed appendectomy was performed in 2, and the other 23 were without symptoms at the 8 weeks follow-up. Minor complications occurred in three patients. None of the patients suffered from an adverse event or a recurrent appendicitis. CONCLUSION: Our study shows that an RCT comparing initial antibiotic treatment strategy with urgent appendectomy is feasible in children; the intervention seems to be safe.

Introduction Postmortem imaging (both CT and MRI) has become a widely used tool the last few years, both for adults and children. If it would be known which findings are normal postmortem changes, interpretation of abnormal findings becomes less ambiguous. Our aim was to describe postmortem intracranial radiological findings on postmortem CT (PMCT) in children, which did not have a relationship with the cause of death, and to determine whether these findings have a relationship with the postmortem interval or with medical interventions. Materials and methods We selected all consecutive pediatric autopsies that were performed at the Netherlands Forensic Institute in the period 1-1-2008 to 31-12-2011, whereby the subject underwent total body PMCT. We collected data on age at death, gender, cause of death determined by forensic autopsy and time between death and PMCT. Normal findings that were scored were: gray-white differentiation of the brain, collapse of the ventricles, air in the orbit, fluid accumulation in the frontal and maxillary sinuses, and air in vessels of head and neck. Results One-hundred-fifty-nine forensic pediatric autopsies were performed in the 4 year study period at the NFI; 77 underwent a total body PMCT, of which 68 were included in the analyses. Fluid accumulation in the sinuses was present 30–40% of the cases in which the sinuses were developed. In 22% of all children intravascular intracranial air, either arterial or venous, was detected. We did not find a relationship between the duration of the postmortem interval and the appearance of any of the findings. Intravenous infusion is not significantly associated with the presence of intravascular air, except for air in the left and right common carotid artery ( B = 2.9, P = 0.05). Conclusions By demonstrating the intracranial abnormalities that appear postmortem, we have tried to provide more insight in the range of findings that can be seen with pediatric PMCT. As these findings resemble antemortem pathology, it is important that the radiologist who interprets PMCT has knowledge of these normal postmortem findings.

Summary. We present the clinical, radiological, and pathological findings of open lung biopsies from monozygotic prematurely born male twins with respiratory distress at ages 6 and 8 weeks postnatally. Radiological examination showed a reticular nodular interstititial pattern on chest radiography. High-resolution computed tomography (HRCT) revealed ground-glass opacification and thickened interstitial septae in both infants. Lung biopsies showed a similar histology. There was diffuse interstitial thickening of the alveolar septa by mesenchymal cells, without prominent hyperplasia of type 2 pneumocytes, and without airspace exudates. Sections were periodic acidSchiff (PAS)-positive within the cytoplasm of interstitial cells, indicating the presence of glycogen. Thus the diagnosis of pulmonary interstitial glycogenosis was made. Both infants were treated with glucocorticoids and had a favorable outcome. We speculate that pulmonary interstitial glycogenosis could be a histopathological form of chronic lung disease (CLD) of infancy. Pediatr

Item does not contain fulltext We have evaluated the applicability of a new Digital X-ray Radiogrammetry (DXR) system in a Dutch Caucasian pediatric population. For this study we enrolled 535 healthy participants who all signed an informed consent form. In addition, 20 children suffering from inflammatory bowel disease (IBD) and juvenile chronic arthritis (JCA) were enrolled. Radiographs of the left hand were obtained from all participants. From the healthy population a subset of children with a history of forearm fractures were separately analyzed. Measurements consisted of DXR (X-posure; Pronosco-Sectra, Linkoping, Sweden). Five hundred thirty-five subjects were enrolled in the study. Twenty-two subjects (4.3%) were discontinued (age 3-10 years), all because of a nonrecognizable radiograph by the DXR system. The short-term coefficient of variation of DXR in this population was 0.59%. Significant differences in DXR-BMD between boys and girls for the ages of 11, 12, 16, 17, and 18 years were found. There were also significant differences in DXR-BMD between the sequential Tanner stages. For 88 subjects repeat radiographs were available (mean interval 1.8 years). In all cases an increase in DXR-BMD was seen. Girls with IBD, JCA, or a history of forearm fractures and boys with IBD showed a significantly lower DXR-BMD compared with healthy controls. We show that DXR is an applicable technique in children. Also, in a small subpopulation it is possible to discriminate children with a high risk of low BMD.

Background The T gene (brachyury gene) is the founding member of the T-box family of transcription factors and is vital for the formation and differentiation of the mesoderm and the axial development of all vertebrates.Results We report here on four patients from three consanguineous families exhibiting sacral agenesis, a persistent notochordal canal and abnormal ossification of the vertebral bodies, and the identification and characterisation of their underlying genetic defect. Given the consanguineous nature and the similarity of the phenotypes between the three families, we performed homozygosity mapping and identified a common 4.1Mb homozygous region on chromosome 6q27, containing T, brachyury homologue (mouse) or T. Sequencing of T in the affected individuals led to the identification of a homozygous missense mutation, p.H171R, in the highly conserved T-box. The homozygous mutation results in diminished DNA binding, increased cell growth, and interferes with the normal expression of genes involved in ossification, notochord maintenance and axial mesoderm development.Conclusions We have identified a shared homozygous mutation in three families in T and linked it to a novel syndrome consisting of sacral agenesis, a persistent notochordal canal and abnormal ossification of the vertebral bodies. We suggest that screening for the ossification of the vertebrae is warranted in patients with sacral agenesis to evaluate the possible causal involvement of T.

A six day old male neonate, born after attempted external version (ECV) and vaginal breech birth, was evaluated for pain during diaper changes. US of the leg showed a small subperiosteal fluid collection at the distal right femur. Conventional radiographs demonstrated the presence of a classic metaphyseal corner fracture (CML). This case is to our knowledge the first to report a CML after ECV and vaginal delivery.

There is a need for a reliable bone assessment technique in children. In this study, we compare an existing technique used in children, radiographic absorptiometry (RA), with a relatively novel technique, quantitative tibial ultrasonometry (QUS). In a prospective cohort study, we enrolled 290 girls (mean age 12.7 years) and 273 boys (mean age 12.4 years). Radiographs of the left hand and the left index finger were taken with an aluminium reference wedge within the field of exposure. Radiographic absorptiometry on the second middle phalanx at the mid-level (BMD50%) and proximal quarter (BMD25%) was performed with interactive software. Tibial QUS was performed using the SoundScan Compact. Multiple regression analysis showed that SOS correlated significantly with BMD25% for both boys (r = 0.65, P < 0.001) and girls (r = 0.59, P < 0.001), taking into account age and gender. The same applied for the correlation between speed of sound (SOS) and BMD50% in boys (r = 0.62, P < 0.001) and girls (r = 0.67, P < 0.001). Cubic regression between calendar age and BMD25% showed the best fit for both boys (r2 = 0.60) and girls (r2 = 0.60). For BMD50% a difference in regression was found between boys and girls. Quadratic regression gave a satisfactory fit for boys (r2 = 0.61 ) whereas for girls, a cubic relation was best (r2 = 0.59). Overall, there was a significant correlation between BMD25% and BMD50% for boys r = 0.89 and for girls r = 0.91 (both P < 0.001). Our data show a significant correlation between two different bone assessment techniques. In addition, these data suggest that both tibial ultrasonometry and RA are useful techniques in children.

Bone densitometry in children is a relatively new topic of interest within the field of osteoporosis. Bone densitometry techniques using an X-ray source have the disadvantage of radiation exposure. Also on some systems, motion artifacts are caused by long scan times. Tibial quantitative ultrasonometry (QUS) is ideally suited for children as it is radiation free and the interactive measurement provides real-time quality control. In this prospective study, we present data from 596 healthy children-309 girls, mean age 12.9 years (range 6.1-19.9), and 287 boys, mean age 12.3 years (range 6.1-19.6) from Rotterdam, The Netherlands. For all subjects, a short questionnaire regarding overall health was completed. To assess skeletal age, an X-ray of the left hand was taken and tibial QUS of the right tibia was performed using the SoundScan Compact. A statistically significant correlation was found between age and speed of sound (SOS)-r(2)(boys) = 0.52 and r(2)(girls) = 0.63 (both P < 0.001) and between skeletal age and SOS-r(2)(boys) = 0.56 and r(2)(girls) = 0. 63 (both P < 0.001). In boys, significant increase of mean SOS is seen between Tanner stages II and III and between IV and V. In girls there is a significant increase of mean SOS among all Tanner stages, except stages II and III. This is the first study to present normative tibial QUS data for Caucasian children and adolescents. In this study, normative data relative to skeletal age are also provided, facilitating the implementation of this technique in children with growth disorders showing dissociation between calendar and skeletal age.

In the burns unit of the Red Cross Hospital, Beverwijk. The Netherlands we performed a retrospective analysis to evaluate whether the spread of multi-resistant micro-organisms (MRMO) in burn victims with a high risk of contamination can be prevented by isolation in a quarantine and isolation unit (QIU). We analysed 1006 patients who where consecutively admitted to the burns unit between 26-03-1985 and 31-12-1992. The age TBSA, and the bacteriological status of all patients were recorded. With regard to the stay in the QIU we recorded the actual number of days between the accident and the time of admission, the duration of the stay, and the therapy given. Of 1006 patients, 72 met the criteria of the Dutch Health Inspectorate for classification as high risk of MRMO contamination. Sixty-one of these 72 patients were treated in the QIU. The mean duration of stay in the QIU was 8.2 days, admission was at 10.2 days postburn, and 20 patients did harbour MRMO. There was no report of any cross-contamination. Since the QIU became operational there have been no outbreaks of MRMO in our burns unit. In our opinion this shows the effectiveness of the QIU.

High plasma C-reactive protein (CRP) levels are associated with favorable outcome in adults with acute lung injury (ALI). The association between CRP levels and outcome has not been studied in ALI in children. We performed a historical cohort study in 93 mechanically ventilated children (0–18 years) with ALI. The CRP level within 48 h of disease onset was tested for association with 28-day mortality and ventilator-free days (VFD). Clinical parameters and ventilator settings were evaluated for possible confounding. Fourteen patients died within 28 days. The median (interquartile range) CRP level in nonsurvivors was 126 mg/L (64; 187) compared with 56 mg/L (20; 105) in survivors (p = 0.01). For every 10-mg/L rise in CRP level, the unadjusted odds (95 % confidence interval (95 % CI)) for mortality increased 8.7 % (2.1–15.8 %). Cardiovascular organ failure at onset of ALI was the strongest predictor for mortality (odds ratio, 30.5 (6.2–152.5)). After adjustment for cardiovascular organ failure, for every 10-mg/L rise in CRP level, the OR (95 % CI) for mortality increased 4.7 % (−2.7–12.6 %; p = 0.22). Increased CRP levels were associated with a decrease in VFD (ρ = −0.26, p = 0.01). Conclusion: increased plasma CRP levels are not associated with favorable outcome in ALI in children. This is in contrast with findings in adults with ALI.

De meeste beschadigingen van organen in de buikholte ontstaan door een ernstige traumatische gebeurtenis. In de VS wordt beschadiging van intra-abdominale organen bij ongeveer 90% van de kinderen met een buiktrauma veroorzaakt door de inwerking van uitwendig stomp mechanisch geweld (stomp abdominaal trauma – SAT ). De resterende 10% komt voor rekening van diverse andere oorzaken, zoals scherp penetrerend mechanisch geweld en chemisch trauma in de vorm van ingestie van etsende stoffen (zuren of logen) of voorwerpen, bijvoorbeeld batterijen.

Fracturen zijn na hematomen, contusies van de huid en brandwonden de meest voorkomende letsels bij kindermishandeling. Naar schatting zijn bij 20% van de slachtoffers van fysieke kindermishandeling fracturen het eerste signaal. Fracturen die het gevolg zijn van kindermishandeling, wijzen over het algemeen op een ernstige vorm van kindermishandeling. Fracturen kunnen op alle anatomische locaties voorkomen (hoewel sommige locaties meer verdacht zijn dan andere), zijn vaker multipel en kunnen verschillende stadia van genezing tonen. In de meerderheid van de kinderen zijn er geen andere lichamelijke afwijkingen zoals blauwe plekken bij het top-teenonderzoek zichtbaar.

Background Children with severe neurological impairment and intellectual disability (ID) are susceptible for developing low bone mineral density (BMD) and fractures. BMD is generally measured with dual-energy X-ray absorptiometry (DXA). Objective To describe the occurrence of factors that may influence the feasibility of DXA and the accuracy of DXA outcome in children with severe neurological impairment and ID. Materials and methods Based on literature and expert opinion, a list of disrupting factors was developed. Occurrence of these factors was assessed in 27 children who underwent DXA measurement. Results Disrupting factors that occurred most frequently were movement during measurement (82%), aberrant body composition (67%), small length for age (56%) and scoliosis (37%). The number of disrupting factors per child was mean 5.3 (range 1–8). No correlation was found between DXA outcomes and the number of disrupting factors. Conclusion Factors that may negatively influence the accuracy of DXA outcome are frequently present in children with severe neurological impairment and ID. No systematic deviation of DXA outcome in coherence with the amount of disrupting factors was found, but physicians should be aware of the possible influence of disrupting factors on the accuracy of DXA.

We report a boy with asymmetric crying facies and bilateral absence of the 5th ray of the feet. In addition, craniofacial computed tomography showed a solitary median maxillary central incisor in combination with a narrow apertura piriformis. To our knowledge this intriguing combination of congenital abnormalities has not been described before.