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1.
Forensic Sci Int ; 346: 111675, 2023 May.
Article in English | MEDLINE | ID: mdl-37011431

ABSTRACT

This paper presents the results of a study on bullet trajectory deflection, for 9 mm Luger Full Metal Jacket Round Nose (FMJ-RN) bullets fired through 23-24 cm of ballistic gelatine. The bullets were fired at different velocities. Impact velocity, energy transfer and bullet trajectory deflection after gelatine perforation were measured and calculated. As was expected, energy transfer to the gelatine blocks generally increased with increasing impact velocity, indicating an altering bullet/gelatine interaction with altering velocity. This alteration did not result in a discernible alteration of bullet trajectory deflection. Deflection angles fell between 5.7° and 7.4° for 136 of the 140 fired shots, with four outliers below 5.7°.

2.
Surg Radiol Anat ; 44(1): 99-103, 2022 Jan.
Article in English | MEDLINE | ID: mdl-34709422

ABSTRACT

INTRODUCTION: We present a case of dual drainage of the right upper lobe of the lung into the left atrium and via partial anomalous venous pulmonary return (PAPVR) into a persistent left superior vena cava (SVC). DISCUSSION: It is only in the minority of PAPVR cases where the anomalous pulmonary veins cross the midline. We provide a review of current literature on this topic and an explanatory embryological model. Knowledge of embryonic development and possible anatomic variations, including the concept of dual venous drainage of the lung, leads to better interpretation of imaging, with more accurate description of the morphology at hand. High-resolution multidetector computed tomography (MDCT) helps to delineate the exact vascular anatomy. This will enhance a better understanding of and anticipation on the patient's disease status, with more accurate planning of intervention, and possibly less complications.


Subject(s)
Persistent Left Superior Vena Cava , Pulmonary Veins , Drainage , Humans , Lung/diagnostic imaging , Pulmonary Veins/diagnostic imaging , Vena Cava, Superior/diagnostic imaging
3.
Eur J Sport Sci ; 20(9): 1197-1205, 2020 Oct.
Article in English | MEDLINE | ID: mdl-31928133

ABSTRACT

Rationale: Explore the MRI-appearance of the healthy distal radial physis and the distribution of stress-related changes in physeal thickness in young gymnasts to aid in the understanding of the pathophysiological process of stress-related physeal injury. Methods: Symptomatic gymnasts with clinically suspected overuse injury of the distal radial physis and age and gender-matched asymptomatic gymnasts and healthy non-gymnasts underwent an MRI-scan of the wrist. A cartilage-specific sequence was used to obtain three-dimensional reconstructions of the distal radial physis. Heat maps and line charts of these reconstructions visualised distribution of physeal thickness per study group and were used to explore differences between study groups. Symptomatic gymnasts displaying the most profound physeal widening (n = 10) were analysed separately. Results: Twenty-seven symptomatic - (skeletal age 12.9 ± 1.5 years), 16 asymptomatic - (skeletal age 12.8 ± 1.9 years) and 23 non-gymnasts (skeletal age 13.6 ± 1.9 years) were included for analysis. Physes of healthy non-gymnasts had a thin centre and increased in thickness towards the borders. Gymnasts demonstrated an increase in thickness of the entire physeal surface. In symptomatic gymnasts increase in physeal thickness was most prominent at the volar side when compared to asymptomatic gymnasts and non-gymnasts. Conclusion: The healthy distal radial physis is characterised by a thin centre surrounded by thicker borders. Stress applied to the wrist during gymnastics causes an overall increase in physeal thickness. Profound thickness increase is present at the volar side of the physis mainly in symptomatic gymnasts. These results can help unravel the pathophysiological mechanism of stress-related physeal injury in gymnasts and aid early injury identification.


Subject(s)
Gymnastics/physiology , Radius/diagnostic imaging , Adolescent , Case-Control Studies , Child , Cumulative Trauma Disorders/etiology , Female , Growth Plate/anatomy & histology , Growth Plate/diagnostic imaging , Gymnastics/injuries , Humans , Magnetic Resonance Imaging , Male , Radius/anatomy & histology , Radius/injuries , Stress, Mechanical
4.
Eur Radiol ; 30(4): 2280-2292, 2020 Apr.
Article in English | MEDLINE | ID: mdl-31834508

ABSTRACT

BACKGROUND: MRI and CT have been extensively used to study fetal anatomy for research and diagnostic purposes, enabling minimally invasive autopsy and giving insight in human fetal development. Novel (contrast-enhanced) microfocus CT (micro-CT) and ultra-high-field (≥ 7.0 T) MRI (UHF-MRI) techniques now enable micron-level resolution that combats the disadvantages of low-field MRI and conventional CT. Thereby, they might be suitable to study fetal anatomy in high detail and, in time, contribute to the postmortem diagnosis of fetal conditions. OBJECTIVES: (1) To systematically examine the usability of micro-CT and UHF-MRI to study postmortem human fetal anatomy, and (2) to analyze factors that govern success at each step of the specimen preparation and imaging. METHOD: MEDLINE and EMBASE were systematically searched to identify publications on fetal imaging by micro-CT or UHF-MRI. Scanning protocols were summarized and best practices concerning specimen preparation and imaging were enumerated. RESULTS: Thirty-two publications reporting on micro-CT and UHF-MRI were included. The majority of the publications focused on imaging organs separately and seven publications focused on whole body imaging, demonstrating the possibility of visualization of small anatomical structures with a resolution well below 100 µm. When imaging soft tissues by micro-CT, the fetus should be stained by immersion in Lugol's staining solution. CONCLUSION: Micro-CT and UHF-MRI are both excellent imaging techniques to provide detailed images of gross anatomy of human fetuses. The present study offers an overview of the current best practices when using micro-CT and/or UHF-MRI to study fetal anatomy for clinical and research purposes. KEY POINTS: • Micro-CT and UHF-MRI can both be used to study postmortem human fetal anatomy for clinical and research purposes. • Micro-CT enables high-resolution imaging of fetal specimens in relatively short scanning time. However, tissue staining using a contrast solution is necessary to enable soft-tissue visualization. • UHF-MRI enables high-resolution imaging of fetal specimens, without the necessity of prior staining, but with the drawback of long scanning time.


Subject(s)
Fetus/diagnostic imaging , Magnetic Resonance Imaging/methods , X-Ray Microtomography/methods , Autopsy/methods , Humans , Whole Body Imaging
5.
Int J Legal Med ; 134(4): 1457-1463, 2020 Jul.
Article in English | MEDLINE | ID: mdl-31853676

ABSTRACT

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.


Subject(s)
Autopsy , Cause of Death , Forensic Medicine , Tomography, X-Ray Computed , Electronic Health Records/statistics & numerical data , General Practitioners , Humans , Radiologists
6.
Int J Legal Med ; 134(1): 267-272, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31734727

ABSTRACT

Existing literature on the relationship between bullet diameter and bullet defect diameter in the human calvarium is summarized and discussed. The hypothesis, derived from the literature, that bullet deformation influences bullet defect diameter was studied in a small controlled experiment. The mean defect size caused by non-deforming projectiles was found to be smaller than the mean defect size caused by deforming projectiles of equal original mass and size. The p value of the difference between the two means, measured in two different ways, was found to be 0.002 for both in a Mann-Whitney U test and was significant if the confidence level is set at 5%.


Subject(s)
Forensic Ballistics , Skull/injuries , Wounds, Gunshot , Aged , Humans , Male , Statistics, Nonparametric
7.
Integr Comp Biol ; 59(1): 29-47, 2019 07 01.
Article in English | MEDLINE | ID: mdl-30649320

ABSTRACT

Contemporary papers and book chapters on nephrology open with the assumption that human kidney development passes through three morphological stages: pronephros, mesonephros, and metanephros. Current knowledge of the human pronephros, however, appears to be based on only a hand full of human specimens. The ongoing use of variations in the definition of a pronephros hampers the interpretation of study results. Because of the increased interest in the anamniote pronephros as a genetic model for kidney organogenesis we aimed to provide an overview of the literature concerning kidney development and to clarify the existence of a pronephros in human embryos. We performed an extensive literature survey regarding vertebrate renal morphology and we investigated histological sections of human embryos between 2 and 8 weeks of development. To facilitate better understanding of the literature about kidney development, a referenced glossary with short definitions was composed. The most striking difference between pronephros versus meso- and metanephros is found in nephron architecture. The pronephros consists exclusively of non-integrated nephrons with external glomeruli, whereas meso- and metanephros are composed of integrated nephrons with internal glomeruli. Animals whose embryos have comparatively little yolk at their disposal and hence have a free-swimming larval stage do develop a pronephros that is dedicated to survival in aquatic environments. Species in which embryos do not have a free-swimming larval stage have embryos that are supplied with a large amount of yolk or that develop within the body of the parent. In those species the pronephros is usually absent, incompletely developed, and apparently functionless. Non-integrated nephrons were not identified in histological sections of human embryos. Therefore, we conclude that a true pronephros is not detectable in human embryos although the most cranial part of the amniote excretory organ is often confusingly referred to as pronephros. The term pronephros should be avoided in amniotes unless all elements for a functional pronephros are undeniably present.


Subject(s)
Kidney/embryology , Pronephros/embryology , Vertebrates/embryology , Animals , Humans , Kidney/anatomy & histology , Pronephros/anatomy & histology , Vertebrates/anatomy & histology
8.
J Forensic Leg Med ; 61: 122-127, 2019 Feb.
Article in English | MEDLINE | ID: mdl-30579224

ABSTRACT

Postmortem interval (PMI) estimations which are used as evidence in Dutch court are sometimes solely based on the experience of the forensic physician without a scientific background. The aim of this study was to investigate the degree of agreement between forensic physicians and their PMI estimations. Fifteen cases were selected from 1534 external postmortem investigations. Photographs of the human remains were presented to 89 forensic physicians in the Netherlands with the instruction to estimate the PMI based on their experience, knowing the remains were found indoors and in which season. Data analysis was conducted by using an interclass correlation (ICC) and Spearman's rank correlation coefficient. This study shows a poor correlation (ICC = 0.254) between the PMI estimations of the 89 forensic physicians. It is therefore not advised that PMI estimations based on experience be used as evidence in court.


Subject(s)
Observer Variation , Photography , Postmortem Changes , Professional Competence , Forensic Medicine , Humans , Netherlands , Reproducibility of Results , Statistics as Topic
9.
Forensic Sci Int ; 286: 268.e1-268.e8, 2018 May.
Article in English | MEDLINE | ID: mdl-29548547

ABSTRACT

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.


Subject(s)
Femur/diagnostic imaging , Sex Determination by Skeleton/methods , Adult , Female , Femur/anatomy & histology , Forensic Anthropology , Humans , Logistic Models , Male , Netherlands , Reproducibility of Results , Tomography, X-Ray Computed , Young Adult
10.
Biomed Opt Express ; 8(9): 4122-4134, 2017 Sep 01.
Article in English | MEDLINE | ID: mdl-28966851

ABSTRACT

Intraoperative peripheral nerve lesions are common complications due to misidentification and limitations of surgical nerve identification. This study validates a real-time non-invasive intraoperative method of nerve identification. Long working distance collimated polarized light imaging (CPLi) was used to identify peripheral radial nerve branches in a human cadaver hand by their nerve specific anisotropic optical reflection. Seven ex situ and six in situ samples were examined for nerves, resulting after histological validation, in a 100% positive correct score (CPLi) versus 77% (surgeon). Nerves were visible during a clinical in vivo observation using CPLi. Therefore CPLi is a promising technique for intraoperative nerve identification.

11.
Clin Anat ; 30(8): 1049-1057, 2017 Nov.
Article in English | MEDLINE | ID: mdl-28514509

ABSTRACT

This study presents a reference for the dimensions of the tarsal sinus and canal in healthy adults in different foot positions to facilitate understanding of the kinematics of the subtalar joint, the effect of an implant, and other clinical issues. In a 3D CT stress test on 20 subjects, the right foot was forced into a neutral and eight different extreme foot positions while CT scans were obtained. The bones were segmented in the neutral foot position. The kinematics of the bones in the extreme positions were determined relative to the neutral position. The dimensions of the tarsal sinus and canal were calculated by determining the radii of the maximal inscribed spheres at 20 equidistant locations along an axis in 3D surface models of the tali and calcanei in each foot position. The radii were small on the medial side and increased laterally. Medial from the middle, the radii were small and not significantly different among the various foot positions. At the lateral side, the dimensions were affected mainly by eversion or inversion and less by dorsiflexion or plantarflexion. The pattern was reproducible among subjects, but there were between-subject differences. The dimensions are mostly determined by rotation in the frontal plane. A pivot point was found medial from the middle. These data serve as a reference and model for predicting the effect of sinus implants and understanding such clinical problems as sinus tarsi syndrome. Between-subjects differences have to be taken into account. Clin. Anat. 30:1049-1057, 2017. © 2017 Wiley Periodicals, Inc.


Subject(s)
Calcaneus/anatomy & histology , Subtalar Joint/anatomy & histology , Talus/anatomy & histology , Analysis of Variance , Biomechanical Phenomena , Calcaneus/diagnostic imaging , Foot/anatomy & histology , Foot/diagnostic imaging , Humans , Imaging, Three-Dimensional , Posture , Range of Motion, Articular , Rotation , Subtalar Joint/diagnostic imaging , Talus/diagnostic imaging , Tomography, X-Ray Computed
12.
Insights Imaging ; 8(3): 301-310, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28439719

ABSTRACT

OBJECTIVES: To determine the advantages of radiological imaging of a collection of full-term teratological fetuses in order to increase their scientific and educational value. BACKGROUND : Anatomical museums around the world exhibit full-term teratological fetuses. Unfortunately, these museums are regularly considered as "morbid cabinets". Detailed dysmorphological information concerning the exhibited specimens is often lacking. Moreover, fetuses with severe and complex congenital anomalies are frequently diagnosed incompletely, incorrectly or not at all. METHODS: In order to verify diagnoses and to enrich their educational and scientific value, we imaged 41 out of the 72 teratological specimens present in the collection of our Anatomy and Pathology Museum in Nijmegen (The Netherlands) by means of magnetic resonance imaging (MRI) and computed tomography (CT). Additionally, contemporary dysmorphological insights and 3D models are implemented in the teratology education of medical students and residents. CONCLUSIONS: Full-term teratological fetuses have become increasingly rare and deserve a prominent place in every anatomical museum; they are suitable for contemporary teratological research and education. Modern radiological techniques markedly enhance their scientific and didactic value. TEACHING POINTS: • To explore the scientific and educational potential of institutionalised teratological collections • To understand the additional value of radiological imaging in diagnosing teratological specimens • To learn about the specific settings of MRI parameters when scanning fixed specimens • To recognise specific internal dysmorphology in several congenital anomalies.

13.
Case Rep Obstet Gynecol ; 2016: 7625341, 2016.
Article in English | MEDLINE | ID: mdl-28116192

ABSTRACT

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.

14.
J Med Genet ; 51(2): 90-7, 2014 Feb.
Article in English | MEDLINE | ID: mdl-24253444

ABSTRACT

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 4.1 Mb 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.


Subject(s)
Abnormalities, Multiple/genetics , Fetal Proteins/genetics , Notochord/abnormalities , Ossification, Heterotopic/genetics , Sacrum/abnormalities , Spine/abnormalities , T-Box Domain Proteins/genetics , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/mortality , Amino Acid Sequence , Base Sequence , Cell Line, Tumor , Cell Proliferation , Chromosomes, Human, Pair 6/genetics , Comparative Genomic Hybridization , Consanguinity , Female , Genetic Association Studies , Homozygote , Humans , Infant , Infant, Newborn , Male , Mutation, Missense , Notochord/diagnostic imaging , Ossification, Heterotopic/diagnostic imaging , Ossification, Heterotopic/mortality , Pedigree , Protein Binding , Protein Transport , Sacrum/diagnostic imaging , Spine/diagnostic imaging , Syndrome , Ultrasonography, Prenatal
15.
Homo ; 64(2): 129-41, 2013 Apr.
Article in English | MEDLINE | ID: mdl-23473075

ABSTRACT

A sternal cleft or bifid sternum is a rare anterior chest wall abnormality. Although several cases have been reported in clinical literature, very little reference has been made to this anomaly in palaeopathological texts. This paper presents a case of superior sternal clefting observed in a middle-aged female with concurrent Paget's disease and congenital hyperkyphosis excavated from a 19th century Dutch psychiatric asylum cemetery in Bloemendaal, The Netherlands. The embryological development of the sternum and associated developmental abnormalities are reviewed and a differential diagnosis is performed on the suite of observed skeletal anomalies. Goltz syndrome, congenital hypothyroidism, disruption of the Hoxb-4 gene, acute excessive maternal alcohol consumption during pregnancy, Coffin-Lowry syndrome and PHACES syndrome were considered as possible causative agents, with the latter two conditions determined to be the most likely. The psychiatric asylum context, from which the individual came, supports the differential diagnosis as neurological abnormalities are common in these two syndromes. This article demonstrates that the integration of embryology, modern clinical literature and palaeopathological principles is vital in the interpretation of developmental anomalies from an archaeological context.


Subject(s)
Sternum/abnormalities , Diagnosis, Differential , Female , History, 19th Century , History, 20th Century , Humans , Kyphosis/complications , Kyphosis/history , Middle Aged , Netherlands , Osteitis Deformans/complications , Osteitis Deformans/history , Paleopathology , Sternum/embryology
16.
Skeletal Radiol ; 42(4): 467-72, 2013 Apr.
Article in English | MEDLINE | ID: mdl-22976477

ABSTRACT

OBJECTIVE: To identify factors that influence the quality of postmortem magnetic resonance (MR) images of musculoskeletal (MSK) structures as described in the literature, and to evaluate the extent to which these MR images are affected. MATERIALS AND METHODS: Four useful studies were retrieved from a PubMed and EMBASE search, covering the literature up to 1 March 2012. Three additional studies were included after a manual search from reference lists. RESULTS: Four human studies and three animal studies are considered in this review. Postmortem MRI quality can be affected by storage temperature, repeated freezing and thawing and fixation. Provided there was an adequate, but above-freezing storage temperature, postmortem changes in fresh cadavers did not appear to affect the MR image quality of MSK structures up to 14 days after death. Image contrast, signal intensities, and relaxation times are temperature-dependent, regardless of whether the specimen was fresh or postmortem for up to 7 days. Bad image quality can occur owing to accelerated autolysis. Freezing and thawing did not affect image quality, unless repeated too often, or whenever a heating pad was used to speed up the thawing process. Conventional formalin-based fixation leads to swelling of soft tissue and fluid accumulation in joints, and therefore to deteriorated images, with image quality just sufficient to visualize gross anatomy. CONCLUSION: Various factors were identified that affect postmortem MR image quality of MSK structures. Postmortem MR image quality was good, except for images of the fixated specimen. Freezing is the preferred method of conservation for specimens that are to be subjected to postmortem MRI.


Subject(s)
Magnetic Resonance Imaging/methods , Musculoskeletal System/anatomy & histology , Postmortem Changes , Animals , Cadaver , Humans , Temperature
17.
Pediatr Radiol ; 42(6): 653-9, 2012 Jun.
Article in English | MEDLINE | ID: mdl-22237480

ABSTRACT

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.


Subject(s)
Abnormalities, Multiple/diagnosis , Spleen/abnormalities , Twins, Conjoined , Cadaver , Female , Humans , Male , Radiography , Spleen/diagnostic imaging , Spleen/pathology
18.
Virchows Arch ; 436(1): 28-35, 2000 Jan.
Article in English | MEDLINE | ID: mdl-10664159

ABSTRACT

Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by generalized osteosclerosis and advanced skeletal maturation. The histopathological characteristics of three novel cases (two isolated cases and a sib-pair) of BOCD are presented and correlated with the clinical and radiographical findings, and the relevant literature is reviewed. The results of our study confirm the existence of two separate types of BOCD, which we propose naming type I: the severe, 'classical' form, and type II: a less severe form.


Subject(s)
Osteochondrodysplasias/pathology , Adult , Bone Density , Consanguinity , Female , Fetal Death/genetics , Gestational Age , Humans , Infant, Newborn , Male , Osteochondrodysplasias/diagnostic imaging , Osteochondrodysplasias/genetics , Osteosclerosis/genetics , Osteosclerosis/pathology , Pregnancy , Radiography
19.
Am J Med Genet ; 85(2): 134-9, 1999 Jul 16.
Article in English | MEDLINE | ID: mdl-10406666

ABSTRACT

The Museum Vrolik collection of human anatomy comprises 360 recently redescribed specimens with congenital anomalies. The specimen described here dated from 1881 and presented with a general embryonic appearance, disproportionate short stature, brachycephaly, widened cranial sutures, hypertelorism, microphthalmia, bilateral cleft lip and palate, micrognathia, short and curved limbs, polysyndactyly, and abnormal female genitalia. Conventional radiography was hampered by decalcification of the skeleton, due to acidification of the preservation fluid. The use of additional imaging techniques, i.e., mammography, computerized tomography with three-dimensional reconstruction, and magnetic resonance imaging eventually led us to conclude that the condition of our specimen was similar to Piepkorn type skeletal dysplasia, boomerang dysplasia, and a condition described by Carpenter and Hunter [1982: J Med Genet 19:311-315], though none of these diagnoses seemed fully applicable.


Subject(s)
Abnormalities, Multiple/diagnosis , Bone and Bones/abnormalities , Abnormalities, Multiple/history , Craniofacial Abnormalities/diagnostic imaging , Craniofacial Abnormalities/history , Diagnosis, Differential , Female , History, 19th Century , Humans , Magnetic Resonance Imaging , Tomography, X-Ray Computed
20.
J Audiov Media Med ; 22(4): 186-94, 1999 Dec.
Article in English | MEDLINE | ID: mdl-10795381

ABSTRACT

The golden age of descriptive teratology (congenital anomalies) was between 1750 and 1850. During that period, the study of human congenital malformations, especially those dramatic examples designated as 'monsters', attracted special attention. One of the finest collections in this field was Museum Vrolikianum, the collection of father and son, Gerardus (1775-1859) and Willem Vrolik (1801-1863). Willem, a specialist in teratology, described many of these specimens in his Handbook of Pathological Anatomy (1844) and his teratology atlas Tabulae ad illustrandam embryogenesin hominis et mammaliam tam naturalem quam abnormem (1849). This collection is still an integral part of the Museum Vrolik in the Academic Medical Center in Amsterdam. From 1991 to 1994, the collection of congenital anomalies was re-catalogued and re-described according to contemporary syndromological views. We diagnosed rare syndromes with multiple congenital anomalies, rare skeletal dysplasias, closure defects of the neural tube and conjoined and acardiac twins. We came to the conclusion that some anomalies of the conditions diagnosed have been reported only a few times. Certain cases demonstrate relationships between different malformations, and provide critical 'missing links' in the teratological series. For the diagnosis of the clinical syndromes in some of the specimens magnetic resonance imaging (MRI), computed tomography (CT), spiral CT and radiographical techniques were of crucial importance and are discussed in this paper.


Subject(s)
Congenital Abnormalities/history , Museums , Abnormalities, Severe Teratoid/history , Congenital Abnormalities/pathology , History, 19th Century , Humans , Magnetic Resonance Imaging , Medical Illustration/history , Museums/history , Netherlands , Osteogenesis Imperfecta/history , Tomography, X-Ray Computed
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