DOCSLIB.ORG

Kniest Dysplasia: New Radiographic Features in the Skeleton

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Kniest Dysplasia: New Radiographic Features in the Skeleton Kniest Dysplasia: New Radiographic Features in the Skeleton Radiology Case Reports Volume 2, Issue 2, 2007 Kniest Dysplasia: New Radiographic Features in the Skeleton Catherine Maldjian, Felix S. Chew, Robert Klein, Akbar Bonakdarpour, James McCarthy, & John Kelly Objective: To describe skeletal findings in patients with Kniest dysplasia, focusing on osseous abnor- malities that have not been characteristically associated with this disorder. Materials and Methods: This was a retrospective study. The radiographs of four patients with known Kniest dysplasia were evaluated by three musculoskeletal radiologists. Results: Bilateral radial head dislocations and bilateral clubfeet were seen in our series. Other charac- teristic findings for this dysplasia were seen in all four patients. Conclusions: Clubfeet and radial head dislocations may be associated with Kniest dysplasia. The pres- ence of these osseous findings in the context of multiple skeletal abnormalities suggestive of a skeletal dysplasia should indicate the possibility of Kniest dysplasia and pathognomonic features for this entity should be sought. Introduction flattening and squaring-off of the epiphyses of tubular bones of the hands, narrowing of joint spaces, trefoil- Kniest dysplasia is a skeletal dysplasia with dispropor- shaped pelvis, marked coxa vara, and platyspondyly (1-6). tionate short stature. The classically described and clinically With growth, the long bones assume a dumbbell morphol- recognized phenotype is the result of severely affected ogy (1,6). The histologic features in Kniest dysplasia corre- skeletal growth, with associated features of retinal detach- late with abnormal cartilage growth, including disorganized ment and deafness (1-6). The key radiographic manifesta- growth plates, soft crumbly cartilage with a "Swiss-cheese" tions include splaying of the long bone metaphyses with appearance, and diastase resistant intracytoplasmic inclu- irregular punctate epiphyses and fluffiness and irregularity sions in the resting chondrocytes (7). Scanning electron of growth plates; loss of normal trabecular bone pattern; microscopy can demonstrate fragmentation and disintegra- tion of collagen fibrils resulting in a web-like pattern and large open cyst-like spaces, and deficiency and disorganiza- Citation: Maldjian C, Chew FS, Klein R, Bonakdarpour A, McCarthy J, Kelly J. Kniest tion of the collagen fibrils (7). At the molecular level, there dysplasia: new radiographic features in the skeleton. Radiology Case Reports. [Online] 2007;2:89. is a specific amino acid deletion at the c-terminus of the Copyright: © 2007 Catherine Maldjian. This is an open-access article distributed under type II collagen helix that disrupt the normal triple helix the terms of the Creative Commons Attribution-NonCommercial-NoDerivs 2.5 License, configuration; this deletion may result from any of several which permits reproduction and distribution, provided the original work is properly cited. Commercial use and derivative works are not permitted. mutations in the type II collagen gene (COL2A1) (8-11). These mutations are expressed in the heterozygous state Catherine Maldjian ([email protected]) and Robert Klein are in the Department of Radiology, Westchester Medical Center, Valhalla, NY 10595, USA and although most cases are probably sporadic (12), al- though autosomal dominant transmission is known. Felix S. Chew is in the Department of Radiology, University of Washington, Seattle, WA 98105, USA Kniest dysplasia has generally been classified as a type of Akbar Bonakdapour is in the Department of Diagnostic Imaging, Temple University Hospi- chondrodysplasia, and because of its molecular basis, it tal, Philadelphia, PA 19140, USA may also be considered to be a form of collagenopathy, or James McCarthy and John Kelly are in the Department of Orthopedic Surgery, Temple more specifically, a type II collagenopathy. Besides Kniest University Hospital and Shriner's Hospital for Children, Philadelphia, PA 19140, USA dysplasia, other clinical entities caused by mutations in the Published: June 30, 2007 COL2A1 gene resulting in type II collagenopathy include DOI: 10.2484/rcr.v2i2.89 achondrogenesis II, hypochondrogenesis, spondyloepiphys- RCR Radiology Case Reports | radiology.casereports.net 72 2007:2(2):72-77 Kniest Dysplasia: New Radiographic Features in the Skeleton Figure 1A. Kniest dysplasia, Case 1. AP radiograph of the pelvis demonstrates absence of the capital femoral epiphy- ses, broadening of the metaphyses, widening of the sym- physis pubis, and a narrow pelvis. While the capital femoral epiphyses are not seen, they are in actuality enlarged, but ossify late. eal dysplasia congenita, Stickler arthroophthalmopathy and mild dominant spondyloarthropathy (12). This group of collagenopathies shares clinical and radiological manifesta- tions that may be expressed as a continuous spectrum of phenotypes, ranging from perinatally lethal to very mild conditions. Biochemical studies of cartilage collagens and morphological analysis of cartilage sections suggest that the abnormalities of type II collagen structure and biosynthesis are the main pathogenetic factors in the phenotypic fea- tures of these conditions (13). Because of the wide range of clinical manifestations of type II collagenopathies and the potential that the characterization of the basic molecular Figure 1B. Kniest dysplasia, Case 1. Frontal radiograph of defect might lead to specific genotype-phenotype correla- the spine demonstrates mild platyspondyly and a scoliosis. tions, we hypothesized that it would be worthwhile re- examining the range of skeletal abnormalities in Kniest dysplasia. We describe the radiographic features in four disproportionate short stature, and progressive deafness. patients with Kniest dysplasia, focusing on osseous abnor- The diagnosis of Kniest dysplasia in this case was estab- malities that have not that have not been characteristically lished by clinical and radiographic criteria. Radiographic associated with this condition. evaluation at 12 years of age demonstrated a spinal scolio- sis and mild platyspondyly (Figure 2). Radiographs of the Case Reports feet demonstrated persistent bilateral clubfoot deformities. Hazy calcifications adjacent to the metaphyses characteris- Case 1: This newborn male presented with bilateral club- tic for Kniest dysplasia were seen. Flattening of the meta- feet that were treated with serial casting. Clinically, the pa- tarsal epiphyses, also classic for this rare entity, were dem- tient demonstrated disproportionate short stature, hearing onstrated. A frontal projection of the pelvis showed small loss, visual impairment, and scoliosis. The diagnosis of capital femoral epiphyses with bilateral dislocations and a Kniest dysplasia in this case was established by clinical and widened symphysis. radiographic criteria. Radiographs obtained at birth Case 3: As a newborn, this male showed hypoplasia of showed typical absence of the capital femoral epiphyses the pubic bones with a "dessert cup" shape to the pelvis, with widening of the symphysis (Figure1). The long bones and absence of the capital femoral epiphysis (Figure 3). were dumbbell-shaped and the spine demonstrated a mild The pelvis resembled that seen in Morquio's dysplasia; platyspondyly. however the latter entity would not present with abnormal Case 2: As a newborn, this male presented with bilateral findings at birth. The diagnosis of Kniest dysplasia in this clubfeet and was treated with serial casting. The patient case was established by clinical and radiographic criteria. clinically demonstrated cleft palate, depressed nasal bridge, Radiographs obtained at two years of age demonstrated bilateral radial head dislocations and a flattened appear- RCR Radiology Case Reports | radiology.casereports.net 73 2007:2(2):72-77 Kniest Dysplasia: New Radiographic Features in the Skeleton Figure 2. Kniest dysplasia, Case 2. AP radiograph of the Figure 1C. Kniest dysplasia, Case 1. Lateral radiograph of pelvis demonstrates broad proximal femoral metaphyses the right foot shows increased calcific density near the dis- with relatively small capital femoral epiphyses and bilateral tal tibial epiphysis and metaphysis, characteristic for this hip dislocation. The pelvis has a configuration similar to that dysplasia. The talocalcaneal angle is decreased with paral- seen in Case 1. lelism, consistent with clubfoot. Case 4: This 5-year-old female with a known diagnosis of Kniest dysplasia had clinically demonstrated disproportion- ate short stature, joint contractures, and typical facies with saddle nose and moon-shaped face. The diagnosis of Kni- est dysplasia in this case was established by clinical and radiographic criteria. Hand radiographs demonstrated characteristic flattening of the metacarpal heads (Figure 4). The pelvis and spine in this patient also showed changes compatible with Kniest dysplasia. The femurs demon- strated a classic dumbbell configuration. Discussion Kniest dysplasia, also called metatrophic dwarfism type 2, pseudometatrophic dysplasia, and Swiss-cheese cartilage dysplasia, is a rare entity that demonstrates one or more the following clinical manifestations: flat facies, low nasal bridge, cataracts, deafness, and disproportionate short stat- ure (1-6). Skeletal dysplasias can often be similar in clinical and radiologic appearance, however certain findings may assist in discriminating between the many forms of dyspla- sia. There is a specific biochemical abnormality in Kniest dysplasia, but clinical and radiographic evaluation
Load more

Recommended publications
  • Kniest Dysplasia Natural History
    Richard M. Pauli, M.D., Ph.D., Midwest Regional Bone Dysplasia Clinics revised 8/2009 KNIEST DYSPLASIA NATURAL HISTORY INTRODUCTION: The following summary of the medical expectations in Kniest Dysplasia is neither exhaustive nor cited. It is based upon the available literature as well as personal experience in the Midwest Regional Bone Dysplasia Clinics (MRBDC). It is meant to provide a guideline for the kinds of problems that may arise in children with this disorder, and particularly to help clinicians caring for a recently diagnosed child. For specific questions or more detailed discussions, feel free to contact MRBDC at the University of Wisconsin – Madison [phone – 608 262 6228; fax – 608 263 3496; email – [email protected]]. Kniest Dysplasia is an infrequent bone dysplasia, which is particularly characterized by progressive stiffness and enlargement of various joints. In addition, it shares many other medical risks with other disorders of type II collagen (such as Spondyloepiphyseal Dysplasia, Congenita). Individuals will typically have both a short trunk and a constricted chest from birth and arms and legs that appear to be disproportionately long. MEDICAL ISSUES AND PARENTAL CONCERNS TO BE ANTICIPATED PROBLEM: GROWTH EXPECTATIONS: Marked short stature is typical; ultimate adult height is usually between 100 and 140 cm (about 39 in to 55 in). MONITORING: No diagnosis-specific growth grid is available. INTERVENTION: No known treatment is effective. Growth hormone is not likely to be effective since this disorder is secondary to intrinsic abnormality of bone growth. Limb lengthening, suggested but controversial in other short stature syndromes, is probably not an option since much of the effects of this disorder is on spine growth not primarily the limbs.
    [Show full text]
  • Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders
    Comprehensive Skeletal Dysplasias and Disorders Panel Test code: MA3301 Is a 251 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of disorders involving the skeletal system. About Comprehensive Skeletal Dysplasias and Disorders This panel covers a broad spectrum of skeletal disorders including common and rare skeletal dysplasias (eg. achondroplasia, COL2A1 related dysplasias, diastrophic dysplasia, various types of spondylo-metaphyseal dysplasias), various ciliopathies with skeletal involvement (eg. short rib-polydactylies, asphyxiating thoracic dysplasia dysplasias and Ellis-van Creveld syndrome), various subtypes of osteogenesis imperfecta, campomelic dysplasia, slender bone dysplasias, dysplasias with multiple joint dislocations, chondrodysplasia punctata group of disorders, neonatal osteosclerotic dysplasias, osteopetrosis and related disorders, abnormal mineralization group of disorders (eg hypopohosphatasia), osteolysis group of disorders, disorders with disorganized development of skeletal components, overgrowth syndromes with skeletal involvement, craniosynostosis syndromes, dysostoses with predominant craniofacial involvement, dysostoses with predominant vertebral involvement, patellar dysostoses, brachydactylies, some disorders with limb hypoplasia-reduction defects, ectrodactyly with and without other manifestations, polydactyly-syndactyly-triphalangism group of disorders, and disorders with defects in joint formation and synostoses. Availability 4 weeks Gene Set Description
    [Show full text]
  • Impact of Collagen Alterations on Human Health
    International Journal of Molecular Sciences Review From Structure to Phenotype: Impact of Collagen Alterations on Human Health Lavinia Arseni 1,†, Anita Lombardi 2,† and Donata Orioli 2,* 1 Department of Molecular Genetics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany; [email protected] 2 Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, 27100 Pavia, Italy; [email protected] * Correspondence: [email protected]; Tel.: +49-0382-546330. † These authors contributed equally to this work. Received: 31 March 2018; Accepted: 4 May 2018; Published: 8 May 2018 Abstract: The extracellular matrix (ECM) is a highly dynamic and heterogeneous structure that plays multiple roles in living organisms. Its integrity and homeostasis are crucial for normal tissue development and organ physiology. Loss or alteration of ECM components turns towards a disease outcome. In this review, we provide a general overview of ECM components with a special focus on collagens, the most abundant and diverse ECM molecules. We discuss the different functions of the ECM including its impact on cell proliferation, migration and differentiation by highlighting the relevance of the bidirectional cross-talk between the matrix and surrounding cells. By systematically reviewing all the hereditary disorders associated to altered collagen structure or resulting in excessive collagen degradation, we point to the functional relevance of the collagen and therefore of the ECM elements for human health. Moreover, the large overlapping spectrum of clinical features of the collagen-related disorders makes in some cases the patient clinical diagnosis very difficult. A better understanding of ECM complexity and molecular mechanisms regulating the expression and functions of the various ECM elements will be fundamental to fully recognize the different clinical entities.
    [Show full text]
  • Discover Dysplasias Gene Panel
    Discover Dysplasias Gene Panel Discover Dysplasias tests 109 genes associated with skeletal dysplasias. This list is gathered from various sources, is not designed to be comprehensive, and is provided for reference only. This list is not medical advice and should not be used to make any diagnosis. Refer to lab reports in connection with potential diagnoses. Some genes below may also be associated with non-skeletal dysplasia disorders; those non-skeletal dysplasia disorders are not included on this list. Skeletal Disorders Tested Gene Condition(s) Inheritance ACP5 Spondyloenchondrodysplasia with immune dysregulation (SED) AR ADAMTS10 Weill-Marchesani syndrome (WMS) AR AGPS Rhizomelic chondrodysplasia punctata type 3 (RCDP) AR ALPL Hypophosphatasia AD/AR ANKH Craniometaphyseal dysplasia (CMD) AD Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy ARSB syndrome AR ARSE Chondrodysplasia punctata XLR Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) B3GALT6 Ehlers-Danlos syndrome progeroid type 2 (EDSP2) AR Multiple joint dislocations, short stature and craniofacial dysmorphism with B3GAT3 or without congenital heart defects (JDSCD) AR Spondyloepimetaphyseal dysplasia (SEMD) Thoracic aortic aneurysm and dissection (TADD), with or without additional BGN features, also known as Meester-Loeys syndrome XL Short stature, facial dysmorphism, and skeletal anomalies with or without BMP2 cardiac anomalies AD Acromesomelic dysplasia AR Brachydactyly type A2 AD BMPR1B Brachydactyly type A1 AD Desbuquois dysplasia CANT1 Multiple epiphyseal dysplasia (MED) AR CDC45 Meier-Gorlin syndrome AR This list is gathered from various sources, is not designed to be comprehensive, and is provided for reference only. This list is not medical advice and should not be used to make any diagnosis.
    [Show full text]
  • REVIEW ARTICLE Genetic Disorders of the Skeleton: a Developmental Approach
    Am. J. Hum. Genet. 73:447–474, 2003 REVIEW ARTICLE Genetic Disorders of the Skeleton: A Developmental Approach Uwe Kornak and Stefan Mundlos Institute for Medical Genetics, Charite´ University Hospital, Campus Virchow, Berlin Although disorders of the skeleton are individually rare, they are of clinical relevance because of their overall frequency. Many attempts have been made in the past to identify disease groups in order to facilitate diagnosis and to draw conclusions about possible underlying pathomechanisms. Traditionally, skeletal disorders have been subdivided into dysostoses, defined as malformations of individual bones or groups of bones, and osteochondro- dysplasias, defined as developmental disorders of chondro-osseous tissue. In light of the recent advances in molecular genetics, however, many phenotypically similar skeletal diseases comprising the classical categories turned out not to be based on defects in common genes or physiological pathways. In this article, we present a classification based on a combination of molecular pathology and embryology, taking into account the importance of development for the understanding of bone diseases. Introduction grouping of conditions that have a common molecular origin but that have little in common clinically. For ex- Genetic disorders affecting the skeleton comprise a large ample, mutations in COL2A1 can result in such diverse group of clinically distinct and genetically heterogeneous conditions as lethal achondrogenesis type II and Stickler conditions. Clinical manifestations range from neonatal dysplasia, which is characterized by moderate growth lethality to only mild growth retardation. Although they retardation, arthropathy, and eye disease. It is now be- are individually rare, disorders of the skeleton are of coming increasingly clear that several distinct classifi- clinical relevance because of their overall frequency.
    [Show full text]
  • Skeletal Dysplasias Precision Panel Overview Indications
    Skeletal Dysplasias Precision Panel Overview Skeletal Dysplasias, also known as osteochondrodysplasias, are a clinically and phenotypically heterogeneous group of more than 450 inherited disorders characterized by abnormalities mainly of cartilage and bone growth although they can also affect muscle, tendons and ligaments, resulting in abnormal shape and size of the skeleton and disproportion of long bones, spine and head. They differ in natural histories, prognoses, inheritance patterns and physiopathologic mechanisms. They range in severity from those that are embryonically lethal to those with minimum morbidity. Approximately 5% of children with congenital birth defects have skeletal dysplasias. Until recently, the diagnosis of skeletal dysplasia relied almost exclusively on careful phenotyping, however, the advent of genomic tests has the potential to make a more accurate and definite diagnosis based on the suspected clinical diagnosis. The 4 most common skeletal dysplasias are thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta and achondrogenesis. The inheritance pattern of skeletal dysplasias is variable and includes autosomal dominant, recessive and X-linked. The Igenomix Skeletal Dysplasias Precision Panel can be used to make a directed and accurate differential diagnosis of skeletal abnormalities ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum
    [Show full text]
  • 5 Congenital Defect of Craniovertebral Junction in Twins with Kniest Dysplasia
    OiT, 4 (4) 2006: 5-8 • Ortho & Trauma 4 (4) 2006: 5-8 Congenital defect of craniovertebral junction in twins with Kniest dysplasia – case report MACIEJ TESIOROWSKI1, STANISLAW KWIATKOWSKI2, BARBARA JASIEWICZ1, WOJCIECH KACKI1, ADRIAN RYMARCZYK1, PIOTR SEBASTIANOWICZ1 1 Jagiellonian University College of Medicine. Department of Orthopaedics and Rehabilitation, Zakopane, ul. Balzera 15, 34-501 Zakopane, Poland 2 Jagiellonian University College of Medicine. Department of Paediatric Surgery, Division of Neurosurgery, Cracow, ul. Wielicka 265, 30-663 Krakow, Poland Barbara Jasiewicz, Jagiellonian University College of Medicine. Department of Orthopaedics and Rehabilitation, Zakopane, ul. Balzera 15, 34-501 Zakopane, Poland e-mail: [email protected] phone: +48 (18) 20 142 97 fax +48 (18) 20 146 18 Abstract Kniest dysplasia is a rare disease from the group of osteochondrodysplasias, rated type II colagenopathies, and like other skeletal dys- plasias may be associated with defects of cranio-vertebral junction with atlanto-axial instability. Objects: a case of spontaneous atlanto- axial subluxation with spinal canal narrowing at the level of craniovertebral junction in twins with Kniest dysplasia was presented. Methods: on the basis of clinical examination, radiographs and MRI study, children were qualified for operative treatment - posterior widening of the foramen magnum and occipito-cervical fusion with titanium anchors. During control examination 4 years after primary surgery, patients was very active, without any neurological deficits, x-ray pictures and MRI study revealed widening of the foramen magnum and full fusion in the place of surgery. Conclusion: authors suggestion is that in the case of foramen magnum and spinal canal narrowing, operative treatment with decompression of nervous structures and stabilization should be advised.
    [Show full text]
  • WES Gene Package Hearing Impairment.Xlsx
    Whole Exome Sequencing Gene package Hearing impairment, version 2, 23‐9‐2016 Technical information After DNA was enriched using Agilent Sureselect Clinical Research Exome (CRE) Capture, samples were run on the Illumina Hiseq platform. The aim is to obtain 50 million total reads per exome with a mapped fraction >0.98. The average coverage of the exome is ~50x. Data are demultiplexed by Illumina software bcl2fastq. Reads are mapped to the genome using BWA (reference: http://bio‐bwa.sourceforge.net/). Variant detection is performed by Genome Analysis Toolkit (reference: http://www.broadinstitute.org/gatk/). Analysis is performed in Cartagenia using The Variant Calling File (VCF) followed by filtering. It is not excluded that pathogenic mutations are being missed using this technology. At this moment, there is not enough information about the sensitivity of this technique with respect to the detection of deletions and duplications of more than 5 nucleotides and of somatic mosaic mutations (all types of sequence changes). HGNC approved Phenotype description including OMIM phenotype ID(s) OMIM median depth % covered % covered gene symbol gene ID >10x >20x ACTB ?Dystonia, juvenile‐onset, 607371 102630 77 100 100 Baraitser‐Winter syndrome 1, 243310 ACTG1 Deafness, autosomal dominant 20/26, 604717 102560 104 100 100 Baraitser‐Winter syndrome 2, 614583 ADCY1 ?Deafness, autosomal recessive 44, 610154 103072 55 95 89 AIFM1 Combined oxidative phosphorylation deficiency 6, 300816 300169 79 100 99 Cowchock syndrome, 310490 Deafness, X‐linked 5, 300614
    [Show full text]
  • Achondrogenesis
    Achondrogenesis Authors: Doctors Laurence Faivre1 and Valérie Cormier-Daire Creation Date: July 2001 Update: May 2003 Scientific Editor: Doctor Valérie Cormier-Daire 1Consultation de génétique, CHU Hôpital d'Enfants, 10 Boulevard Maréchal de Lattre de Tassigny BP 7908, 21079 Dijon Cedex, France. [email protected] Abstract Keywords Disease name and synonyms Prevalence Diagnosis criteria / Definition Clinical description Differential diagnosis Diagnostic methods Etiology Genetic counseling Antenatal diagnosis Management including treatment Unresolved questions References Abstract Achondrogenesis is a lethal disorder characterized by deficient endochondral ossification, abdomen with disproportionately large cranium, and anasarca. Radiological features are characteristic, with virtual absence of ossification of the vertebral column, sacrum and pelvic bones. There are 2 types of achondrogenesis, and differentiation between those types is possible through clinical and radiological andhistological studies. Type I achondrogenesis is of autosomal recessive inheritance with the subtype IB caused by mutations in the diastrophic dysplasia sulfate transporter DTDST gene, and type II achondrogenesis caused by de novo dominant mutations in the collagen type II-1 COL2A1 gene. Keywords endochondral ossification deficiency, lethol disorder, anasarca, absence of ossification in vertebral column, DTDST gene, COL2A1 gene Disease name and synonyms Diagnosis criteria / Definition According to the current classification, there are Association of:
    [Show full text]
  • Spondyloepiphyseal Dysplasia Congenita
    SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Vernon Tolo, MD ICEOS 2018 DISCLOSURE • EDITOR EMERITUS, JBJS SED CONGENITA – CHROMOSOMAL SITE 12q13.11-q13.2 – TYPE II COLLAGEN DEFECT • COL2A1 MUTATION • CLINICAL PICTURE – SHORT TRUNK AND LIMBS – HANDS/ FEET FAIRLY NORMAL – LUMBAR LORDOSIS – FROM SPINE AND HIPS – WADDLING GAIT, EXT. ROTATION – ABOUT 50% WITH C1-C2 INSTABILITY SED CONGENITA – ODONTOID HYPOPLASIA IN MOST • FLEX-EXT NECK XRAYS – FLEXION OR EXTENSION INSTABILITY MAY BE SEEN • FLEX-EXT MRI IN YOUNG SED CONGENITA • FLEXION-EXTENSION C-SPINE MRIs (Mackenzie, et al. 2013) – 31 SKELETAL DYSPLASIA PATIENTS • AVERAGE AGE 3 YEARS • VARIETY OF DIAGNOSES – 6 WITH XRAY INSTABILITY WITH NORMAL MRI – 9 WITH NORMAL XRAYS HAD ABNORMAL MRI – 14 HAD SURGERY – 17 CONTINUED OBSERVATION – NO COMPLICATIONS FROM MRI SED CONGENITA – FLEX/EXT MRI USEFUL – HELPS IN SURGERY DECISION – 11 year old with 7 mm C1-C2 motion – No surgery recommended after MRI SED CONGENITA – ATLANTO-AXIAL INSTABILITY TREATMENT • PRESENT AT YOUNG AGE OFTEN • FUSION UNINSTRUMENTED OR INSTRUMENTED – ALWAYS ILIAC CREST OR RIB AUTOGRAFT • FUSE OCCIPUT TO C2 IF NO IMPLANTS • MAY DO C1-C2 OR O-C2 WITH IMPLANTS SED CONGENITA UNINSTRUMENTED FUSION – SIGNAL CHANGE IN CORD AT AGE 3 • ILIAC CREST GRAFT AND HALO FOR 3 MONTHS – IMPROVED MRI AT 7 YEARS POST FUSION • 2000 2002 nonunion? 2007 fusion 8 SED CONGENITA • UNINSTRUMENTED FUSION – DECOMPRESSION AND FUSION AT 4 – HALO 3 MONTHS – post-op 2 yrs 5 years 7 years SED CONGENITA • UNINSTRUMENTED FUSION – INSTABILITY AT AGE 2 – MRI WITH COMPRESSION ON FLEXION – OCCIPUT TO C2 FUSION IN HALO • NOW 1 YEAR POST-OP SED CONGENITA • SIMPLE INSTRUMENTED FUSION – 15 Y.O.
    [Show full text]
  • Connective Tissue Disorder NGS Panel
    Connective Tissue Disorder Next Generation Sequencing (NGS) Rev 1.00 Panels: Information for Ordering Providers Background Heritable connective tissue disorders are a group of conditions caused by genetic variants that impact the development and maintenance of the extracellular matrix, which provides support and structure throughout the body. Connective tissue represents the most abundant tissue type in the body, and is comprised of proteins such as collagen and elastin. Due to the widespread role of connective tissue in most organs and body systems, connective tissue disorders can present with a diverse array of cutaneous, ocular, skeletal, cardiovascular, and craniofacial features.1 The panels listed below include genes related to aortopathies and other groups of heritable connective tissue disorders. Associated clinical features or genetic conditions are listed for each gene and the inheritance pattern for each condition (AD – autosomal dominant, AR – autosomal recessive, XL – X-linked). Please be advised that order restrictions apply for the following panels. Carrier testing/presymptomatic testing is currently restricted to Clinical Genetics. Testing for symptomatic patients is restricted based on clinical specialty. Please refer to the APL Test Directory for specific ordering restrictions for each panel. Aortopathy Panels (Core and Extended) Aortopathies are a group of disorders that affect the structure of the aorta, conferring an increased susceptibility to aortic dilation, aneurysm, and/or dissection. An aortic aneurysm is defined as localized dilation of the aorta to a diameter that is 50% greater than normal, while an aortic dissection refers to a tear in the inner layer of the aorta, which can lead to aortic rupture and sudden cardiac death.2 Aortic aneurysms and dissections can occur in the thoracic aorta or in the abdominal aorta.
    [Show full text]
  • Kniest Dysplasia in a Girl Aged 6 Years
    Case Report iMedPub Journals Journal of Rare Disorders: Diagnosis & Therapy 2016 http://wwwimedpub.com ISSN 2380-7245 Vol. 2 No. 1: 8 DOI: 10.21767/2380-7245.100037 Kniest Dysplasia in a Girl Aged 6 Years Petrasova Sarka1, Zemková Daniela1,2, Marik Ivo1,3, Mortier Geert R4 and Abstract Kozlowski Kazimierz5 We report clinical, radiological and anthropological findings from the first Czech patient with Kniest dysplasia whose radio-clinical diagnosis was confirmed by 1 Ambulant Centre for Defects of DNA studies. Kniest dysplasia is an inherited disorder associated with defects in Locomotor Apparatus, Prague, Czech Republic type of collagen II with specific clinical and characteristic radiographic findings. 2 Paediatric Department, University Our affected girl had dysmorphic and radiographic features consistent with Hospital Motol, Prague, Czech Republic Kniest disease: cleft palate, hip dysplasia, dysmorphic flat face, short trunk and 3 Faculty of Health Studies, West Bohemia extremities, spine deformity, platyspondyly, short and broad femoral necks. University, Pilsen, Czech Republic Mental development was normal. Body height was below norm (-3.2 SD) and 4 Department of Medical Genetics, muscular hypotrophy of the extremities and trunk was noticeable. Molecular Antwerp University Hospital, B-2650 studies supported the diagnosis of Kniest disease by identification of the COL2A1 Edegem, Belgium 5 Radiological Department of Westmead mutation (c.1023+1G>A) in intron 16. NSW 2145, Sydney, Australia Keywords: Kniest disease/dysplasia; Spondylo-epi-metaphyseal dysplasia; Collagenopathy type II; Anthropometry Corresponding author: Marik Ivo Received: February 03, 2016; Accepted: February 09, 2016; Published: February 15, 2016 [email protected] Head of the Ambulant Centre for Defects Introduction of Locomotor Apparatus, Prague, Czech Republic.
    [Show full text]