DOCSLIB.ORG

Developmental Syndromes and Malformations of the Urinary Tract

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Developmental Syndromes and Malformations of the Urinary Tract Pediatric Nephrology DOI 10.1007/978-3-642-27843-3_5-1 # Springer-Verlag Berlin Heidelberg 2014 Developmental Syndromes and Malformations of the Urinary Tract Chanin Limwongse* Department of Medicine, Division of Medical Genetics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkoknoi, Bangkok, Thailand Introduction Birth defects involving the kidney and urinary system are often encountered and frequently occur in association with other structural abnormalities. A congenital urinary tract anomaly may provide the first clue to the recognition of multiorgan developmental abnormalities. Nevertheless many renal anomalies remain asymptomatic and undiagnosed. Therefore it is critical, not only for pediatric nephrologists but also for pediatricians in general, to be familiar with the common anomalies involving the kidney and urinary system and the more complex disorders with which they may be associated. The kidney is a pivotal organ in dysmorphology. Although the number of single malformations involving the kidney is limited, combinations of these malformations in conjunction with anomalies involving other organ systems are found in more than 500 syndromes. In addition, many well- known sequences and associations involve the kidney and urinary tract. This chapter discusses common malformations, sequences, and associations involving the kidney and urinary tract and provides a summary of conditions that have these anomalies as one of their features. In addition, Tables 1, 2, and 3 summarize more detailed information about a large number of disorders, including their phenotypic features, reported urinary tract anomalies, pattern of inheritance, causative genes, and related references. These tables can be used both to provide readily available information about potential urinary tract anomalies for patients with a diagnosed genetic syndrome and to suggest a differential diagnosis when anomalies are identified. Readers interested in additional details about a specific syndrome are referred to standard reference textbooks and databases about syndromes and malformations for further reading (e.g., [5–7]). Online Mendelian Inheritance in Man (OMIM; https://www.omim.org) is currently considered the most updated online information for cataloging genetic syndromes and can lead readers to many informative sites through its various links. To understand the pathophysiologic basis of structural abnormalities, it is important to be familiar with the meaning of certain terms as they are used in describing malformations and syndromes: Malformation refers to a single structural anomaly that arises from an error in organogenesis. Such an error may be due to the failure of cells or tissues to form, to die (programmed cell death), or to induce others. Examples include renal agenesis, horseshoe kidney, and bladder exstrophy. Deformation refers to a single structural anomaly that arises from mechanical forces, such as intrauterine constraint. Examples include many cases of metatarsus adductus, torticollis, and congenital scoliosis. The underlying tissue may be normal or abnormal, and sometimes a malformation (e.g., renal agenesis) can predispose patients to a deformation (e.g., Potter’s sequence from oligohydramnios). *Email: [email protected] *Email: [email protected] Page 1 of 46 # DOI 10.1007/978-3-642-27843-3_5-1 Pediatric Nephrology Springer-Verlag Berlin Heidelberg 2014 Table 1 Syndromes and disorders that have urinary tract anomalies as a frequent feature Urinary tract abnormalities ureter = sclerosis = horseshoe stenosis nephromegaly dysplasia = = = = Other associated Tumor Reflux Nephritis Cystic Duplication Hypoplasia Hydronephrosis Diverticula Atresia Syndromes Renal agenesis Ectopia Other associated anomalies anomalies Gene(s) References Abruzzo-Erickson H Coloboma, cleft palate, hypospadias, XR Unk [48] deafness, short stature Acrocephalopolydactylous + + + Acrodactyly, hand hexadactyly, AR Unk [49] dysplasia (Elejalde syndrome) overgrowth, visceromegaly, globular body, redundant neck skin Acrorenal (Dieker) 1 E + + + Ua Ectrodactyly, oligodactyly, hypoplastic Sporadic Unk [50] carpal/tarsal bones Acrorenal (Johnson-Munson) 1, U, Ua Aphalangy, hemivertebrae, genital/ AR Unk [50] 2 intestinal/anal dysgenesis Acrorenal (Siegler) E + U + Short stature, hypoplastic radii/ulnae/ Uncertain Unk [50] humeri, oligodactyly Acrorenal-mandibular 1 + Ectrodactyly, hypoplastic mandible AR Unk [51] Acrorenal-ocular 1 E + B Hypoplastic thumb, optic coloboma, cleft AD SALL4 [52] lip/palate Adrenoleukodystrophy,neonatal See Pseudo-Zellweger Aglossia-adactylia 1 Micrognathia, cranial nerve palsy Sporadic Unk [53] Agnathia-holoprosencephaly H + Arrhinencephaly, situs inversus, midline Sporadic Unk [54] defects Alagille 1 + + + Cholestasis, peripheral pulmonic stenosis, AD JAG1 [55] characteristic face Page 2 of 46 Alport + Nephritis, proteinuria, deafness AD, AR, XL COL4 [56] Alsing + Nephritis, nephronophthisis, optic AR Unk [57] coloboma, hip dislocation # DOI 10.1007/978-3-642-27843-3_5-1 Pediatric Nephrology Alstrom + Diabetes mellitus, retinopathy, short AR ALMS1 [58] Springer-Verlag Berlin Heidelberg 2014 stature, deafness Amelogenesis imperfecta type IG + Enamel hypoplasia, nephrolithiasis, AR Unk [59] enuresis Amyloidosis type 5 + Nephropathy, proteinuria, cranial nerve AD GELSOLIN [60] palsy, cutis laxa Angiotensin-converting enzyme + IUGR, oligohydramnios, patent ductus Sporadic none [61] (ACE) inhibitor, maternal use arteriosus, limb anomalies, renal artery stenosis, progressive renal failure Aniridia-Wilms tumor (WAGR) + Aniridia, ambiguous genitalia, hypospadia, AD WT1 [62] short stature Axial mesodermal dysplasia 1 Bladder exstrophy, vertebral anomalies, Uncertain Unk [63] Goldenhar-like Baldellou 1 Hypoparathyroidism, ocular coloboma, Uncertain Unk [64] MR, seizures Baller-Gerold + E + + Craniosynostosis, radial aplasia, AR RECQL4 [65] malformed ear, anal atresia Barakat + Mesangial sclerosis, MR, optic atrophy, AD GATA3 [66] nystagmus Bardet-Biedl + + + + + + Obesity, polysyndactyly, MR, retinopathy, AR BBS1-12 [67, 68] hypogonadism Beckwith-Wiedemann E + + + + Overgrowth, macroglossia, omphalocele, Sporadic, AD CDKN1C, [69–72] embryonal tumors NSD1, H19 Berardinelli + + Insulin resistance, lipodystrophy, AR BSCL2 [73] acanthosis nigricans, MR Brachymesomelia-renal + Micrognathia, corneal opacity, craniofacial Uncertain Unk [74] dysmorphism Branchio-oculo-facial 1 Philtrum hypertrophy, cleft lip/palate, AD TFAP2A [75] branchial remnant Branchio-oto-renal 1, E + + + + + Branchial remnant, preauricular pit/tag, AD EYA1, SIX5 [76] 2 microtia, deafness Braun-Bayer + U + Deafness, bifid uvula, digital anomalies Uncertain Unk [77] Page 3 of 46 Cat eye See Table 3 Chromosomal (continued) Table 1 (continued) # DOI 10.1007/978-3-642-27843-3_5-1 Pediatric Nephrology Springer-Verlag Berlin Heidelberg 2014 Urinary tract abnormalities ureter = sclerosis = horseshoe stenosis nephromegaly dysplasia = = = = Other associated Tumor Reflux Nephritis Cystic Duplication Hypoplasia Hydronephrosis Diverticula Atresia Syndromes Renal agenesis Ectopia Other associated anomalies anomalies Gene(s) References Caudal duplication 1, E + + + Duplication of colon, sacrum, genitalia, Sporadic AXIN1 [78] 2 vertebral defects Caudal regression 1, E, + + Ua + Atresia of colon, anus, genitalia, vertebral AD, AR VANGL1 [79, 80] 2 H defects, TE fistula Cerebro-hepato-renal (Passarge) + See Zellweger syndrome AR PEX [81] Cerebro-oculo-hepato-renal + Cerebellar hypoplasia, hepatic fibrosis, AR Unk [82] Leber amaurosis Cerebro-osteo-nephro dysplasia + + Rhizomelic limb shortening, cerebral AR Unk [83] atrophy, MR, seizures CHARGE + E + + + + U + See text for details Sporadic, AD CHD7 [33–37] Chondroectodermal dysplasia 1 + + + Acromelic dwarfism, polydactyly, nail AR EVC, EVC2 [84, 85] (Ellis van Creveld) dystrophy, tooth hypoplasia narrow thorax, CHD Cocaine, maternal use 1, + + Ua + Vascular disruption anomalies affecting Sporadic none [86] 2 multiple organs Cornelia de Lange 1 + + + + SS, microcephaly, limb defect, hirsutism, Sporadic NIPBL, [87] synophrys SMC1L1 Crossed renal ectopia-pelvic E + U Clubbing of fingers, gynecomastia Uncertain Unk [88] lipomatosis Czeizel + U Ectrodactyly, spina bifida, megacystis AD Unk [89] Diabetic mother, infant of 1, E, + + + + Ua + Neural tube defect, cardiac/limb anomalies, Sporadic none [90, 91] 2 H sacral agenesis DiGeorge/velocardiofacial 1, E + + + + + See Table 3 Chromosomal Page 4 of 46 3 Denys-Drash E + + + Pseudohermaphroditism, Wilms tumor, Sporadic WT1 [92] proteinuria # DOI 10.1007/978-3-642-27843-3_5-1 Pediatric Nephrology Down See Table 3 Chromosomal Springer-Verlag Berlin Heidelberg 2014 Ectrodactyly-ectodermal 1 + + + + Ectrodactyly, hypohidrosis, sparse hair, AD Unk [93] dysplasia-clefting (EEC) cleft lip/palate Elejalde See acrocephalopolydactylous dysplasia Epstein + Thrombocytopenia, nerve deafness, AD MYH9 [94] cataract Facio-cardio-renal H + U Cardiomyopathy, conduction defect, MR, AR Unk [95] typical face Fanconi anemia 1 E, + + + + Pancytopenia, limb defects, leukemia, AR FANCA-N [96, 97] H lymphoma Fetal alcohol 1 E, + + + + IUGR, DD, microcephaly, short palpebral Sporadic none [98] H fissure Fibromatosis, infantile + + Multiple myofibromatosis, myositis AR Unk [99] ossificans Fraser cryptophthalmos 1, + U Fused eyelids, ear/genital anomalies, AR FRAS1 [100] 2 syndactyly Frasier + + Male pseudohermaphrodite, amenorrhea, AD WT1 [101] ovarian cysts Goeminne + + Congenital torticollis, keloids, XR Unk [102] cryptorchidism
Load more

Recommended publications
  • Glossary for Narrative Writing
    Periodontal Assessment and Treatment Planning Gingival description Color: o pink o erythematous o cyanotic o racial pigmentation o metallic pigmentation o uniformity Contour: o recession o clefts o enlarged papillae o cratered papillae o blunted papillae o highly rolled o bulbous o knife-edged o scalloped o stippled Consistency: o firm o edematous o hyperplastic o fibrotic Band of gingiva: o amount o quality o location o treatability Bleeding tendency: o sulcus base, lining o gingival margins Suppuration Sinus tract formation Pocket depths Pseudopockets Frena Pain Other pathology Dental Description Defective restorations: o overhangs o open contacts o poor contours Fractured cusps 1 ww.links2success.biz [email protected] 914-303-6464 Caries Deposits: o Type . plaque . calculus . stain . matera alba o Location . supragingival . subgingival o Severity . mild . moderate . severe Wear facets Percussion sensitivity Tooth vitality Attrition, erosion, abrasion Occlusal plane level Occlusion findings Furcations Mobility Fremitus Radiographic findings Film dates Crown:root ratio Amount of bone loss o horizontal; vertical o localized; generalized Root length and shape Overhangs Bulbous crowns Fenestrations Dehiscences Tooth resorption Retained root tips Impacted teeth Root proximities Tilted teeth Radiolucencies/opacities Etiologic factors Local: o plaque o calculus o overhangs 2 ww.links2success.biz [email protected] 914-303-6464 o orthodontic apparatus o open margins o open contacts o improper
    [Show full text]
  • Morphologic Diversity in Human Papillomavirus-Related Oropharyngeal Squamous Cell Carcinoma: Catch Me If You Can! James S Lewis Jr
    Modern Pathology (2017) 30, S44–S53 S44 © 2017 USCAP, Inc All rights reserved 0893-3952/17 $32.00 Morphologic diversity in human papillomavirus-related oropharyngeal squamous cell carcinoma: Catch Me If You Can! James S Lewis Jr Department of Pathology, Microbiology, and Immunology; Department of Otolaryngology, Vanderbilt University Medical Center, Nashville, TN, USA As the human papillomavirus (HPV)-related oropharyngeal squamous cell carcinoma epidemic has developed in the past several decades, it has become clear that these tumors have a wide variety of morphologic tumor types and features. For the practicing pathologist, it is critical to have a working knowledge about these in order to make the correct diagnosis, not to confuse them with other lesions, and to counsel clinicians and patients on their significance (or lack of significance) for treatment and outcomes. In particular, there are a number of pitfalls and peculiarities regarding HPV-related tumors and their nodal metastases that can easily result in misclassification and confusion. This article will discuss the various morphologic types and features of HPV- related oropharyngeal carcinomas, specific differential diagnoses when challenging, and, if established, the clinical significance of each finding. Modern Pathology (2017) 30, S44–S53; doi:10.1038/modpathol.2016.152 It is now well-established that human papilloma- Among its many effects on clinical practice, the virus (HPV) is responsible for a large fraction of oropharyngeal HPV epidemic has put pathologists at oropharyngeal squamous cell carcinomas (SCC), the forefront of diagnosis and recognition of these particularly in the United States and Europe.1 Many unique tumors, which are much less clinically have termed the increase in HPV-related orophar- aggressive than conventional head and neck SCC, 7 yngeal SCC as an epidemic.2,3 There are numerous and which are beginning to be managed differently.
    [Show full text]
  • MICHIGAN BIRTH DEFECTS REGISTRY Cytogenetics Laboratory Reporting Instructions 2002
    MICHIGAN BIRTH DEFECTS REGISTRY Cytogenetics Laboratory Reporting Instructions 2002 Michigan Department of Community Health Community Public Health Agency and Center for Health Statistics 3423 N. Martin Luther King Jr. Blvd. P. O. Box 30691 Lansing, Michigan 48909 Michigan Department of Community Health James K. Haveman, Jr., Director B-274a (March, 2002) Authority: P.A. 236 of 1988 BIRTH DEFECTS REGISTRY MICHIGAN DEPARTMENT OF COMMUNITY HEALTH BIRTH DEFECTS REGISTRY STAFF The Michigan Birth Defects Registry staff prepared this manual to provide the information needed to submit reports. The manual contains copies of the legislation mandating the Registry, the Rules for reporting birth defects, information about reportable and non reportable birth defects, and methods of reporting. Changes in the manual will be sent to each hospital contact to assist in complete and accurate reporting. We are interested in your comments about the manual and any suggestions about information you would like to receive. The Michigan Birth Defects Registry is located in the Office of the State Registrar and Division of Health Statistics. Registry staff can be reached at the following address: Michigan Birth Defects Registry 3423 N. Martin Luther King Jr. Blvd. P.O. Box 30691 Lansing MI 48909 Telephone number (517) 335-8678 FAX (517) 335-9513 FOR ASSISTANCE WITH SPECIFIC QUESTIONS PLEASE CONTACT Glenn E. Copeland (517) 335-8677 Cytogenetics Laboratory Reporting Instructions I. INTRODUCTION This manual provides detailed instructions on the proper reporting of diagnosed birth defects by cytogenetics laboratories. A report is required from cytogenetics laboratories whenever a reportable condition is diagnosed for patients under the age of two years.
    [Show full text]
  • Orphanet Report Series Rare Diseases Collection
    Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic
    [Show full text]
  • Dermatopathology
    Dermatopathology Clay Cockerell • Martin C. Mihm Jr. • Brian J. Hall Cary Chisholm • Chad Jessup • Margaret Merola With contributions from: Jerad M. Gardner • Talley Whang Dermatopathology Clinicopathological Correlations Clay Cockerell Cary Chisholm Department of Dermatology Department of Pathology and Dermatopathology University of Texas Southwestern Medical Center Central Texas Pathology Laboratory Dallas , TX Waco , TX USA USA Martin C. Mihm Jr. Chad Jessup Department of Dermatology Department of Dermatology Brigham and Women’s Hospital Tufts Medical Center Boston , MA Boston , MA USA USA Brian J. Hall Margaret Merola Department of Dermatology Department of Pathology University of Texas Southwestern Medical Center Brigham and Women’s Hospital Dallas , TX Boston , MA USA USA With contributions from: Jerad M. Gardner Talley Whang Department of Pathology and Dermatology Harvard Vanguard Medical Associates University of Arkansas for Medical Sciences Boston, MA Little Rock, AR USA USA ISBN 978-1-4471-5447-1 ISBN 978-1-4471-5448-8 (eBook) DOI 10.1007/978-1-4471-5448-8 Springer London Heidelberg New York Dordrecht Library of Congress Control Number: 2013956345 © Springer-Verlag London 2014 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifi cally the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfi lms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifi cally for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work.
    [Show full text]
  • I ABSTRACTS I BARD Cosmaan, M.D., EDITOR NATIONAL COMMITTEE Oscar E. Beder, D.D.S. Andrew Blitzer, M.D. Robert M. Briggs, M.D. W
    I ABSTRACTS I BARD CosmaAN, M.D., EDITOR NATIONAL COMMITTEE Oscar E. Beder, D.D.S. Stephen Glaser, M.D. Norman J. Lass, Ph.D. Andrew Blitzer, M.D. Alexander Goldenberg, D.D.S. Dennis O. Overman, Ph.D. Robert M. Briggs, M.D. John B. Gregg, M.D. Dennis M. Ruscello, Ph.D. William Cooper, M.D. Jerry Alan Greene, D.V.M. F. T. Sporck, M.D. Jack C. Fisher, M.D. Daubert Telsey, D.D.S. INTERNATIONAL COMMITTEE Paul Fogh-Andersen, M.D., Copenhagen, Denmark Seiichi Ohmori, M.D., Tokyo, Japan Jean L. Grignon, M.D., Nevilly, France Anthony D. Pelly, M.D., Sydney, Australia Jose Guerrero-Santos, M.D., Guadalajara City, Helen Peskova, M.D., Prague, Czechoslovakia Mexico H. Reichert, M.D., Stuttgart, West Germany Stewart B. Heddle, M.D., Ontario, Canada W. H. Reid, M.D., Glasgow, Scotland Junji Machida, D.D.S., Shiojiri City, Japan E. Schmid, M.D., Stuttgart, West Germany Francesco Minnervini, M.D., Rome, Italy Jean Claude Talmant, M.D., Nantes, France Beninceton, I. C., and C1irroRrp, T., An injec- the inconveniences. A great deal of patience tion technique for palatal defects, ]. is required to properly communicate with Prosth. Dent., 47: 414-418, 1982. these patients. (Goldenberg) To further retention of prosthetic devices obturating palatal defects, advantage is taken FuKupa, T., Goto, T., Wapa, T., and Mrya- of undercuts, Extension of borders are made ZAKI, T'., Maternal mentality for the chil- with flexible arms into the undercuts without dren with clefts, /J. Jap. Cleft Palate Assoc., undue impingement, and the prosthesis can 6(2): 55-62, 1981.
    [Show full text]
  • Journal 2016
    Journal of ENT masterclass ISSN 2047-959X Journal of ENT MASTERCLASS® Journal of Journal ENT MASTERCLASS ® VOL: 9 No: 1 Year Book 2016 Volume 9 Number 1 YEAR BOOK 2016 VOLUME 9 NUMBER 1 JOURNAL OF ENT MASTERCLASS® Volume 9 Issue 1 December 2016 TriVantage | APS | NIM 3.0 Contents Welcome message 3 Hesham Saleh Confidence Intracranial complications of suppurative ear disease 4 James E.F. Howard and Matthew S. Rollin The large vestibular aqueduct syndrome 9 Security Cheka. R. Spencer Management of sudden sensorineural hearing loss 13 Safety Stephen J Broomfi eld Patulous eustachian tube 19 Sam MacKeith and Ian Bottrill Principles of facial reanimation 24 Ahmed Allam and Glen J. Watson A multidisciplinary approach to the management of paediatric drooling 29 C Paul and A Addison Extra-uterine intrapartum treatment (EXIT) and upper airway obstruction of the newborn 34 Colin R Butler, Elizabeth F Maughan and Richard Hewitt The management of paediatric facial nerve palsy 41 Sachin Patil, Neeraj Bhangu, Kate Pryde and Andrea Burgess Paediatric sleep physiology and sleep disordered breathing 50 Gahleitner F, Hill CM and Evans HJ Paediatric tracheostomy 57 Morad Faoury, Andrea Burgess and Hasnaa Ismail-Koch Paediatric vocal cord paralysis 64 Virginia Fancello, Matthew Ward, Hasnaa Ismail-Koch and Kate Heathcote Transoral laser surgery for advanced laryngeal cancer 69 Isabel Vilaseca and Manuel Bernal-Sprekelsen Open partial surgery for primary and recurrent laryngeal cancer 75 Giuseppe Spriano, Giuseppe Rizzotto, Andy Bertolin, Giuseppe Mercante, Antonio Schindler, Erika Crosetti, and Giovanni Succo Management of professional voice problems 83 A.S Takhar, R. Awad, A. Aymat and N.
    [Show full text]
  • A Rare Case of Plunging Infected Ranula: MRI Diagnosis
    Central JSM Clinical Case Reports Bringing Excellence in Open Access Case Report *Corresponding author Chiara Schiarelli, Neuroradiologist, Institute of Radiology, Catholic University, “A. Gemelli” Hospital, A Rare Case of Plunging Largo “A. Gemelli”, Rome, Italy Tel:+390630155402; Fax:0635501928; Email: Submitted: 23 November 2015 Infected Ranula: MRI Diagnosis Accepted: 18 January 2016 Schiarelli C*, Sciandra M, TartaglioneTand Colosimo C Published: 20 January 2016 Department of Radiology, Catholic University, Italy Copyright © 2016 Schiarelli et al. ISSN: 2373-9819 Abstract OPEN ACCESS Ranula is a rare benign acquired cystic lesion that occurs at the floor of the mouth. Keywords It is difficult to diagnose when it is plunging. The objective of this report was to describe a case of multicompartmental extensive ranula with atypical clinical and ultrasound • Ranula features. We present a case of left submandibular swelling in a child. Imaging features • US (US and MR), differential diagnosis of huge submandibular lesions and tips of surgical • MR strategies are discussed.MRplays an important role in the diagnosis of plunging ranula in children, addressing surgical approach and technique. ABBREVIATION with or without excision of thesublingual gland or excision of the sublingual gland with “evacuation” of a plunging ranula. The US: Ultrasound Scan; MR: Magnetic Resonance; MRI: Magnetic extraoral approach removes the ranula sac together with the Resonance Imaging; W: weighted submandibular gland[1,2,10]. INTRODUCTION CASE PRESENTATION Ranula is a sublingual gland mucocele; it’s a mucous An 8-year-old male patient presented with a painless extravasation cyst, which occurs as a result of trauma or submandibular swelling, without fever or history of trauma.
    [Show full text]
  • Nova Scotia Atlee Perinatal Database Coding Manual 7Th Edition
    Nova Scotia Atlee Perinatal Database Coding Manual 7th Edition (REVISED) Reprinted January 2000 NOVA SCOTIA ATLEE PERINATAL DATABASE CODING MANUAL TABLE OF CONTENTS (A) ROUTINE INFORMATION LISTING OF HOSPITALS .......................1 DELIVERED ADMISSIONS ......................3 UNDELIVERED ADMISSIONS ..................59 POSTPARTUM ADMISSIONS ...................69 NEONATAL ADMISSIONS .................... 79 ANOMALY ADMISSIONS ......................91 (B) CLASSIFICATION OF MATERNAL DISEASES AND PROCEDURES (Blue Section) I. Previous Pregnancy Maternal Diseases.............. 01 II. Present Pregnancy Maternal Diseases............... 02 A. Obstetrical ..............................02 B. Non-Obstetrical..........................07 C. Labour Complications .....................15 D. Non-Delivery Procedures ..................16 E. Analgesia During Labour ...................20 F. Anesthesia During Labour/Delivery ..........22 G. Anesthesia for Non-Delivery Procedures ......24 H. Lacerations ..............................25 I. Postpartum Complications..................26 J. Postpartum Infections .....................29 K. Maternal Therapy.........................31 L. Maternal Death or Undelivered Fetal Death....33 M. Infection in Present Pregnancy .............34 N. Complications of Anesthesia................37 O. Antibiotic Therapy........................39 P. Fetal Procedures..........................40 Q. Methods of Induction ......................41 7th Edition, April 2001, V7.2 Table of Contents and Index i NOVA SCOTIA ATLEE PERINATAL DATABASE
    [Show full text]
  • Pepid Pediatric Emergency Medicine Clinical Topics
    PEPID PEDIATRIC EMERGENCY MEDICINE CLINICAL TOPICS NEONATOLOGY • CEPHAL HEMATOMA • CYSTIC FIBROSIS • ABDOMINAL AND CHEST WALL • CEREBRAL PALSY • CYTOMEGALOVIRUS (CMV) DEFECTS (NEONATE AND INFANT) • CHRONIC NEONATAL LUNG • DELAYED TRANSITION • ABNORMAL HEAD SHAPE DISEASE • DRUG EXPOSED INFANT • ABO-INCOMPATIBILITY • COMNGENITAL PARVOVIRUS B 19 • ERYTHROBLASTOSIS FETALIS • ACNE - INFANTILE • CONGENITAL CANDIDIASIS • EXAMINATION OF THE NEWBORN • ALIGILLE SYNDROME • CONGENITAL CATARACTS • EXCHANGE TRANSFUSION • AMBIGUOUS GENITALIA • CONGENITAL CMV • EYE MISALIGNMENT • AMNIOTIC FLUID ASPIRATION • CONGENITAL COXSACKIEVIRUS • FETAL HYDRONEPHROSIS • ANAL ATRESIA • CONGENITAL DYSERYTHROPOIETIC • FETOMATERNAL TRANSFUSION • ANEMIA - SEVERE AT BIRTH ANEMIA • FFEDS/FLUIDS - PRETERM • ANEMIA OF PREMATURITY • CONGENITAL EMPHYSEMA • FPIES(FOOD PROTEIN INDUCED • ANHYDRAMNIOS SEQUENCE • CONGENITAL GLAUCOMA ENTEROCOLITIES SYNDROME) • APGAR SCORE • CONGENITAL GOITER • GASTRO INTESTINAL REFLUX • APNEA OF PREMATURITY • CONGENITAL HEART BLOCK • GROUP B STREPTOCOCCUS • APT TEST • CONGENITAL HEPATIC FIBROSIS • HEMORRHAGIC DISEASE OF THE • ASPHYXIATING THORACIC DYSTRO- • CONGENITAL HEPATITIS B NEWBORN PHY (JEUNE SYNDROME) INFECTION • HEPATIC RUPTURE • ATELECTASIS • CONGENITAL HEPTITIS C • HIV • ATRIAL SEPTAL DEFECTS INFECTION • HYALINE MEMBRANE DISEASE • BARLOW MANEUVER • CONGENITAL HYDROCELE • HYDROCEPHALUS • BECKWITH-WIEDEMANN SYN- • CONGENITAL HYPOMYELINATING • HYDROPS FETALIS DROME • CONGENITAL HYPOTHYROIDISM • HYPOGLYCEMIA OF INFANCY • BENIGN FAMILIAL NEONATAL
    [Show full text]
  • Review Article
    Published online: 2019-04-03 Review Article RRoboticobotic nneckeck ssurgery:urgery: RationalesRationales andand evolutionsevolutions ABSTRACT Conventional operations for various surgical neck lesions adopted the transcervical scar, which were disfi guring and caused various postoperative morbidities. The advent of the surgical robotics as a result of advancement in technology led to a technical breakthrough in the fi eld of head and neck surgery. Together with the application of the robot, we have seen the promising role of the retroauricular (RA) approach from its versatile applications. This review will discuss in detail various robotic head and neck surgeries via RA approach. Key words: Minimally invasive surgery; neck surgery; retroauricular approach; robot Introduction anterior neck mass, and thyroglossal duct cyst[1-5] Recently, the surgical robotics has been exploited with the TO approach Conventional operations for various neck pathologies, which in removing the thyroid gland and the entire larynx.[6-11] need surgical removal, were accomplished with the adoption Perhaps, the most widely acknowledged and popularized of a transcervical scar. This in most cases resulted in a grossly surgical approach would be the TA approach. The gasless [12] noticeable scar. Considering the fact that the neck is the TA approach surgery was initially reported by Dutta et al., but its full-scale application with the incorporation of the most easily recognized and exposed area, this unfavorable robot was achieved by Kang Sw et al. who have practiced
    [Show full text]
  • ACASS Annual Report 6
    AAllbbeerrttaa CCoonnggeenniittaall AAnnoommaalliieess SSuurrvveeiillllaannccee SSyysstteemm A N U L R E P O T 11998800 -- 22000011 ALBERTA CONGENITAL ANOMALIES SURVEILLANCE SYSTEM SIXTH REPORT 1980 – 2001 Alberta Children’s Hospital Alberta Health and Wellness Research Centre Health Surveillance Department of Medical Genetics PO Box 1360 STN MAIN University of Calgary Edmonton, Alberta T5J 2N3 1820 Richmond Road SW Calgary, Alberta T2T 5C7 Division of Vital Statistics Alberta Registries 10365-97 Street Edmonton, Alberta T5J 3W7 Medical Consultant: R.B. Lowry Manager: B. Sibbald Health Surveillance Consultants: L. Svenson F-L. Wang i Suggested citation: Alberta Health and Wellness (2004) Alberta Congenital Anomalies Surveillance System: Sixth Report, 1980 – 2001. Edmonton: Author. For additional information please contact: Health Surveillance Alberta Health and Wellness P. O. Box 1360 STN MAIN Edmonton, AB T5J 2N3 CANADA Telephone: +1-780-427-4518 Toll-Free: 310-0000 (Alberta only) Website: www.health.gov.ab.ca ISSN: 1490-9761 (print) ISSN: 1710-8594 (online) ii ACKNOWLEDGEMENTS The Alberta Congenital Anomalies Surveillance System (ACASS) receives funding from the Alberta Ministry of Health and Wellness for the on-going collection of data on all congenital anomalies in the province. We would particularly like to thank Dr. Stephan Gabos, Director, Health Surveillance Branch, for his strong support of this activity. The success of ACASS depends upon the interest and activities of many people. We thank health records personnel in the province’s hospitals, unit clerks, nurses, clinic co- coordinators and physicians. Many physicians were contacted by letter in order to obtain additional clarifying information and their prompt replies are appreciated. The additional information is vital in improving the quality of the data.
    [Show full text]