Part I, Cervical Spine
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M ONITOR a Semi-Annual Data and Research Update Texas Department of Health, Bureau of Epidemiology
Texas Birth Defects M ONITOR A Semi-Annual Data and Research Update Texas Department of Health, Bureau of Epidemiology VOLUME 10, NUMBER 1, June 2004 FROM THE DIRECTOR The web site also has a useful glossary linked to risk factor summaries for a number of birth defects. INTERACTIVE WEB PAGE ALLOWS EASY RESEARCH SYMPOSIUM ACCESS TO TEXAS BIRTH DEFECTS DATA Birth defects data were recently highlighted at the Texas In partnership with Texas Department of Health's Center for Birth Defects Research Symposium on April 9 in San Anto- Health Statistics, birth defects data are now available on the nio. The following speakers provided insight into the causes Texas Health Data web site. Visitors to the site (http://soup- of birth defects: fin.tdh.state.tx.us/) will be able to query data from the Texas Birth Defects Registry. Linking Birth Defects and the Environment, with Prelimi- nary Findings from an Air Pollution Study in Texas (Peter The Registry uses active surveillance to collect information Langlois, Ph.D., TBDMD and Suzanne Gilboa, M.H.S., U.S. about infants and fetuses with birth defects, born to women Environmental Protection Agency) residing in Texas. Data are presented for 49 defect catego- ries, plus a category for “infants and fetuses with any moni- Neural Tube Defects: Multiple Risk Factors Among the tored birth defect” beginning with deliveries in 1999, when Texas-Mexico Border Population (Lucina Suarez, Ph.D., the Texas Birth Defects Registry became statewide. Texas Department of Health) The Embryonic Consequences of Abnormal -
Klippel-Feil Syndrome and Thoracic Outlet Syndrome
Neurological Disorders & Epilepsy Journal Open Access Clinical Image Klippel-Feil Syndrome and Thoracic Outlet Syndrome Ali Rıza Sonkaya1*, Erkan Kaya2, Serdar Firtina3 and Mehmet AK4 1Department of Neurology, Okmeydam Training and Research Hospital, Turkey 2Department of Physical Medicine and Rehabilitation, Rehabilitation Hospital, Turkey 3Department of Cardiology, Cyprus Military Hospital, Turkey 4Department of Radiology, Ilker Celikcan Physical Medicine and Rehabilitation Hospital, Turkey A R T I C L E I N F O CLINICAL IMAGE Article history: Received: 08 September 2017 Klippel–Feil Syndrome (KFS) is a rare disease that was firstly described in Accepted: 12 October 2017 Published: 18 October 2017 1912 by Maurice Klippel and Andre Feil. It is a bone disorder recognized by the abnormal fusion of two or more spinal bones, it seem in the cervical Copyright: © 2017 Sonkaya AR et al., vertebrae. It has three major features which are short neck, limited age of Neurol Disord Epilepsy J This is an open access article distributed motion in the cervical spine and low hairline at the beck [1]. under the Creative Commons Attribution License, which permits unrestricted use, We report the case of a 26-year-old male patient was admitted to distribution, and reproduction in any medium, provided the original work is cardiology clinic with complaint of left arm and chest pain. Mitral valve properly cited. prolapse detected by transthoracic echocardiography. Patient was referred to Citing this article: Sonkaya AR, Kaya E, Firtina S, Mehmet AK. Klippel-Feil physical therapy and rehabilitation clinic due to cervical scoliosis and the short Syndrome and Thoracic Outlet Syndrome. Neurol Disord Epilepsy J. -
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Folia Morphol. Vol. 77, No. 2, pp. 386–392 DOI: 10.5603/FM.a2017.0080 O R I G I N A L A R T I C L E Copyright © 2018 Via Medica ISSN 0015–5659 www.fm.viamedica.pl Incidental imaging findings of congenital rib abnormalities: a case series and review of developmental concepts A.M. Aignătoaei1, C.E. Moldoveanu2, I.-D. Căruntu3, S.E. Giuşcă3, S. Partene Vicoleanu3, A.H. Nedelcu3 1Department of Pathology, “Sf. Spiridon” Clinic Hospital, 1, Independenţei Square, Iaşi, Romania 2Department of Radiology, Pneumology Clinic Hospital, 30, dr. Iosif Cihac Street, Iaşi, Romania 3Department of Morphofunctional Sciences, “Grigore T. Popa” University, 16, University Street, Iaşi, Romania [Received: 12 June 2017; Accepted: 24 July 2017] Background: Congenital rib abnormalities are found in approximately 2% of the general population. Usually, they occur in isolation and are rarely symptomatic, but they can also be associated with other malformations. Materials and methods: We reviewed imaging examinations performed over a period of 2 years (2014–2015), enabling us to identify isolated rib abnormalities in 6 adult patients. Results: The case series consisted in 3 cases with bilateral cervical ribs and 1 case each with bifid rib, costal fusion and rib pseudarthrosis. In all patients, the costal anomalies were discovered incidentally. All rib malformations were detected at thoracic radiography, except for the rib pseudarthrosis, which was identified at computed tomography (CT) scan. Differential diagnosis was made between cer- vical ribs and abnormalities of the C7 transverse process and of the first rib, while the other costal malformations were distinguished from tumoural, traumatic or inflammatory lesions of the chest wall, lung and pleura. -
Saethre-Chotzen Syndrome
Saethre-Chotzen syndrome Authors: Professor L. Clauser1 and Doctor M. Galié Creation Date: June 2002 Update: July 2004 Scientific Editor: Professor Raoul CM. Hennekam 1Department of craniomaxillofacial surgery, St. Anna Hospital and University, Corso Giovecca, 203, 44100 Ferrara, Italy. [email protected] Abstract Keywords Disease name and synonyms Excluded diseases Definition Prevalence Management including treatment Etiology Diagnostic methods Genetic counseling Antenatal diagnosis Unresolved questions References Abstract Saethre-Chotzen Syndrome (SCS) is an inherited craniosynostotic condition, with both premature fusion of cranial sutures (craniostenosis) and limb abnormalities. The most common clinical features, present in more than a third of patients, consist of coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. The estimated birth incidence is 1/25,000 to 1/50,000 but because the phenotype can be very mild, the entity is likely to be underdiagnosed. SCS is inherited as an autosomal dominant trait with a high penetrance and variable expression. The TWIST gene located at chromosome 7p21-p22, is responsible for SCS and encodes a transcription factor regulating head mesenchyme cell development during cranial tube formation. Some patients with an overlapping SCS phenotype have mutations in the FGFR3 (fibroblast growth factor receptor 3) gene; especially the Pro250Arg mutation in FGFR3 (Muenke syndrome) can resemble SCS to a great extent. Significant intrafamilial -
CASE REPORT Congenital Posterior Atlas Defect Associated with Anterior
Acta Orthop. Belg., 2007, 73, 282-285 CASE REPORT Congenital posterior atlas defect associated with anterior rachischisis and early cervical degenerative disc disease : A case study and review of the literature Dritan PASKU, Pavlos KATONIS, Apostolos KARANTANAS, Alexander HADJIPAVLOU From the University of Crete Heraklion, Greece A rare case of a wide congenital atlas defect is report- diagnosed posterior atlas defect coexisting with an ed. A 25 year-old woman was admitted after com- anterior rachischisis, presenting with radicular arm plaints of radicular pain in the right arm. pain resistant to conservative therapy. In addition, a Radiographs incidentally revealed aplasia of the pos- review of the literature is presented with emphasis terior arch of the atlas together with anterior rachis- on the possibility of the association between the chisis. A review of the literature is presented and a atlas defect and early disc degeneration. possible association with early disc degeneration is discussed. CASE REPORT Keywords : spine ; congenital disorders ; computed tomography ; MR imaging ; disc degeneration. A 25 year-old woman presented with neck pain radiating to the right arm over the last 5 days. She also reported intermittent neck and arm pain for the INTRODUCTION past 4 years. The patient had consulted in our hos- pital for an episode of cervical pain one year previ- Malformations of the atlas are relatively rare and ously without arm pain but was discharged from exhibit a wide range including aplasia, hypoplasia the emergency department without any radiological and various arch clefts (2, 15). The reported inci- examination. Her symptoms deteriorated with neck dence in a large study of 1,613 autopsies with flexion, with pain referred to the upper thoracic regard to presence of congenital aplasia is 4% for the posterior arch and 0.1% for the anterior arch (5- 8). -
Oral Surgery Procedures in a Patient with Hajdu-Cheney Syndrome Treated with Denosumab—A Rare Case Report
International Journal of Environmental Research and Public Health Article Oral Surgery Procedures in a Patient with Hajdu-Cheney Syndrome Treated with Denosumab—A Rare Case Report Magdalena Kaczoruk-Wieremczuk 1,†, Paulina Adamska 1,† , Łukasz Jan Adamski 1, Piotr Wychowa ´nski 2 , Barbara Alicja Jereczek-Fossa 3,4 and Anna Starzy ´nska 1,* 1 Department of Oral Surgery, Medical University of Gda´nsk,7 D˛ebinkiStreet, 80-211 Gda´nsk,Poland; [email protected] (M.K.-W.); [email protected] (P.A.); [email protected] (Ł.J.A.) 2 Department of Oral Surgery, Medical University of Warsaw, 6 St. Binieckiego Street, 02-097 Warsaw, Poland; [email protected] 3 Department of Oncology and Hemato-Oncology, University of Milan, 7 Festa del Perdono Street, 20-112 Milan, Italy; [email protected] 4 Division of Radiotherapy, IEO European Institute of Oncology, IRCCS, 435 Ripamonti Street, 20-141 Milan, Italy * Correspondence: [email protected] † Co-first author, these authors contributed equally to this work. Abstract: Background: Hajdu-Cheney syndrome (HCS) is a very rare autosomal-dominant congenital disease associated with mutations in the NOTCH2 gene. This disorder affects the connective tissue and is characterized by severe bone resorption. Hajdu-Cheney syndrome most frequently affects Citation: Kaczoruk-Wieremczuk, M.; the head and feet bones (acroosteolysis). Case report: We present an extremely rare case of a 34- Adamska, P.; Adamski, Ł.J.; Wychowa´nski,P.; Jereczek-Fossa, year-old male with Hajdu-Cheney syndrome. The patient was admitted to the Department of Oral B.A.; Starzy´nska,A. Oral Surgery Surgery, Medical University of Gda´nsk,in order to perform the extraction of three teeth. -
A Narrative Review of Poland's Syndrome
Review Article A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment Eman Awadh Abduladheem Hashim1,2^, Bin Huey Quek1,3,4^, Suresh Chandran1,3,4,5^ 1Department of Neonatology, KK Women’s and Children’s Hospital, Singapore, Singapore; 2Department of Neonatology, Salmanya Medical Complex, Manama, Kingdom of Bahrain; 3Department of Neonatology, Duke-NUS Medical School, Singapore, Singapore; 4Department of Neonatology, NUS Yong Loo Lin School of Medicine, Singapore, Singapore; 5Department of Neonatology, NTU Lee Kong Chian School of Medicine, Singapore, Singapore Contributions: (I) Conception and design: EAA Hashim, S Chandran; (II) Administrative support: S Chandran, BH Quek; (III) Provision of study materials: EAA Hashim, S Chandran; (IV) Collection and assembly: All authors; (V) Data analysis and interpretation: BH Quek, S Chandran; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: A/Prof. Suresh Chandran. Senior Consultant, Department of Neonatology, KK Women’s and Children’s Hospital, Singapore 229899, Singapore. Email: [email protected]. Abstract: Poland’s syndrome (PS) is a rare musculoskeletal congenital anomaly with a wide spectrum of presentations. It is typically characterized by hypoplasia or aplasia of pectoral muscles, mammary hypoplasia and variably associated ipsilateral limb anomalies. Limb defects can vary in severity, ranging from syndactyly to phocomelia. Most cases are sporadic but familial cases with intrafamilial variability have been reported. Several theories have been proposed regarding the genesis of PS. Vascular disruption theory, “the subclavian artery supply disruption sequence” (SASDS) remains the most accepted pathogenic mechanism. Clinical presentations can vary in severity from syndactyly to phocomelia in the limbs and in the thorax, rib defects to severe chest wall anomalies with impaired lung function. -
Anencephalic Fetus with Craniospinal Rachischisis – Case Report
Case Study International Journal of Research - GRANTHAALAYAH ISSN (Online): 2350-0530 May 2021 9(5), 24–29 ISSN (Print): 2394-3629 ANENCEPHALIC FETUS WITH CRANIOSPINAL RACHISCHISIS – CASE REPORT 1 Ayse KONAC 1Gelisim University Health Sciences, Istanbul, Turkey ABSTRACT Anencephaly, in which a substantial part of the brain, skull, or scalp is miss- ing, is a lethal neural tube defect (NTD) that occurs during the fourth week of pregnancy after failed cranial neuropore closure. One in every 1,000 births is anencephalic, and newborns with this NTD are not viable or treatable. Associ- ated with anencephaly is rachischisis, or severe incomplete neural tube closure and exposure of the spinal cord. Ultrasonography can quickly diagnose anen- cephaly. Like other NTDs, nutritional and environmental factors both play a role in the development of anencephaly. Here, we report and discuss an unusual case of a 12-week gestation anencephalic fetus with craniospinal rachischisis and its embryological roots. In our case, except from the low socio-economic life of the patient, the Received 18 April 2021 absence of a predisposing factor that could cause such an anomaly, the abor- Accepted 4 May 2021 tion being in the irst trimester and the occurrence in the irst pregnancy of the Published 31 May 2021 patient as a result of 5-year infertility made us think that pathology examination Corresponding Author of the abortus material is important in complet or incomplete abortions. Ayse KONAC, ayse.konac1@gmail. com DOI 10.29121/ Keywords: Anencephaly, Neural Tube Defect, Rachischisis, İncomplet Abortion, granthaalayah.v9.i5.2021.3899 First Trimester Funding: This research received no speciic grant from any funding agency in the public, commercial, or not-for-proit sectors. -
Some Sequels of Abnormality at the Thoracic Outlet* by J
Thorax: first published as 10.1136/thx.2.1.1 on 1 March 1947. Downloaded from Thorax (1947), 2, 1. SOME SEQUELS OF ABNORMALITY AT THE THORACIC OUTLET* BY J. R. LEARMONTH Edinburgh This paper-on obstruction at the thoracic outlet-deals with the results of anomalies of bone and muscle; first rib, cervical rib, and scaleni. Though thoracic surgeons approach these structures from a different exposure, and with a different end in view, they may be interested in the related types of vascular and nervous disturbance, and may like to compare them with any anomalies thev have encountered in their own operative procedures and which were possibly not associated with clinical symptoms. MORPHOLOGY N~~~~~~~~~~~~~~~~~~~~~~~~1 http://thorax.bmj.com/ The- arrangement of the bones which form the thoracic outlet derives from the typical thoracic segment (Fig. 1). This con- sists of a central piece or centrum (the body of the vertebra) carrying a dorsal and a ventral hoop of bone. The dorsal hoop (neural arch) provides the laminae and spinous process. The central piece or centrum may be defective as on October 3, 2021 by guest. Protected copyright. to one half (hemivertebra), producing both scoliosis and absence of one rib, which inevit- ably alter the architecture of the thoracic out- let on both sides; or it may be fused with adjoining central pieces. The ventral hoop, or haemal arch, is much expanded in the thor- acic region. The haemal arch has a double origin, from a dorsal segment of bone, the pleurapophysis, and a ventral segment, the FIG. 1.-Typical thoracic segment *An address to the Society of Thoracic Surgeons (Owen). -
Closed Spinal Dysraphism and Tethered Cord
ACNRSO14_Layout 1 04/09/2014 22:14 Page 28 NEUROSURGERY ARTICLE Ruth-Mary deSouza trained in medicine at Closed Spinal Dysraphism Guy’s, Kings and St Thomas Medical School and graduated in 2008. She entered the London and Tethered Cord Neurosurgery training programme in 2010 and is currently an ST5 trainee on the South Thames Syndrome: A Review of Neurosurgery programme. David Frim Multidisciplinary Team Management is Professor of Surgery, Neurology and Paediatrics at the University of Chicago. He is an Summary internationally recognised • Embryology of spinal dysraphism clinical Neurosurgeon and Neurosciences Researcher • Clinical features of tethered cord syndrome who specialises in the care • Multidisciplinary management of closed spinal dysraphism of children and adults with congenital neurosurgical problems. Currently, Dr Frim serves as principal investigator on laboratory studies related to neural injury and clinical studies focusing on Abstract outcomes after treatment of congenital anomalies of the nervous system especially as related to cognition. The initial diagnosis as well as the long term management of occult spinal dysraphism and Dr Frim is joint senior author of the article. tethered spinal cord is often managed by a large number of healthcare professionals including Paediatricians, GPs, Neurologists, Neurosurgeons, Rehabilitation Physicians and Paige Terrien Church Therapists. We review the entity of spinal dysraphism. An approach to the evaluation and is an Assistant Professor of diagnosis of these entities is subsequently discussed. In addition, concepts involved in the Paediatrics at the pathophysiology, neurosurgical repair, and outcome are presented in the context of postop - University of Toronto. She is the Director of the erative management issues that rely upon the knowledge of all professionals who may Neonatal Follow Up Clinic encounter these patients. -
Ultrasonographic Screening for Fetal Rib Number Anomalies
Original Article Hong Kong J Gynaecol Obstet Midwifery 2020;20(2):81-7 | https://doi.org/10.12809/hkjgom.20.2.08 Ultrasonographic screening for fetal rib number anomalies Florrie NY YU, MBChB, MRCOG, FHKAM (Obstetrics and Gynaecology) Teresa WL MA, MBBS, FRCOG, FHKAM (Obstetrics and Gynaecology) Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong Objective: To determine associations between fetal rib number anomalies detected on ultrasonography and chromosomal anomalies and other structural anomalies, and the outcome of affected pregnancies. Methods: All cases of fetal rib number anomalies referred to the Prenatal Diagnosis Clinic of Queen Elizabeth Hospital between 1 January 2016 and 31 December 2019 were reviewed. Fetal ribs were examined by static three- dimensional multiplanar or volume contrast ultrasonography. Genetic counselling was offered. The prenatal and postnatal records were reviewed. Results: 21 fetuses with rib number anomalies were identified over 4 years. The most common presentation was unilateral or bilateral absence of the 12th thoracic rib (n=12, 57.1%), followed by the presence of lumbar rib (n=6, 28.6%) and the presence of cervical rib (n=3, 14.3%). Three (14.3%) fetuses were identified to have anomalies in other systems: unilateral absence of nasal bone (n=1) and minor vascular anomalies (n=2). One patient with multiple anomalies of the fetus underwent amniocentesis, and the chromosomal microarray analysis was normal. Postnatally, 13 babies had chest radiographs taken. Two were confirmed to have normal number of ribs. Prenatal and postnatal findings were consistent in 6 (46.2%) babies. Conclusion: Fetal rib number anomalies were an isolated finding in most cases. -
The Filum Disease and the Neuro-Cranio-Vertebral Syndrome
Royo-Salvador et al. BMC Neurology (2020) 20:175 https://doi.org/10.1186/s12883-020-01743-y RESEARCH ARTICLE Open Access The Filum disease and the Neuro-Cranio- vertebral syndrome: definition, clinical picture and imaging features Miguel B. Royo-Salvador1*, Marco V. Fiallos-Rivera1, Horia C. Salca1 and Gabriel Ollé-Fortuny2 Abstract Background: We propose two new concepts, the Filum Disease (FD) and the Neuro-cranio-vertebral syndrome (NCVS), that group together conditions thus far considered idiopathic, such as Arnold-Chiari Syndrome Type I (ACSI), Idiopathic Syringomyelia (ISM), Idiopathic Scoliosis (IS), Basilar Impression (BI), Platybasia (PTB) Retroflexed Odontoid (RO) and Brainstem Kinking (BSK). Method: We describe the symptomatology, the clinical course and the neurological signs of the new nosological entities as well as the changes visible on imaging studies in a series of 373 patients. Results: Our series included 72% women with a mean age of 33.66 years; 48% of the patients had an interval from onset to diagnosis longer than 10 years and 64% had a progressive clinical course. The commonest symptoms were: headache 84%, lumbosacral pain 72%, cervical pain 72%, balance alteration 72% and paresthesias 70%. The commonest neurological signs were: altered deep tendon reflexes in upper extremities 86%, altered deep tendon reflexes in lower extremities 82%, altered plantar reflexes 73%, decreased grip strength 70%, altered sensibility to temperature 69%, altered abdominal reflexes 68%, positive Mingazzini’s test 66%, altered sensibility to touch 65% and deviation of the uvula and/or tongue 64%. The imaging features most often seen were: altered position of cerebellar tonsils 93%, low-lying Conus medullaris below the T12L1 disc 88%, idiopathic scoliosis 76%, multiple disc disease 72% and syringomyelic cavities 52%.