81. SOTOS SYNDROME : Contact A Family - For Families With Disabled Children: Informa Sotos syndrome cerebral gigantism in Childhood. In this rare syndrome babiesare generally significantly larger and heavier than average caused by http://www.cafamily.org.uk/Direct/s36.html

printer friendly SOTOS SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Sotos syndrome: Cerebral Gigantism in Childhood In this rare syndrome babies are generally significantly larger and heavier than average caused by excessive prenatal and early post-natal growth. Characteristics include macrocephaly (large head) with accelerated bone maturation, delayed development and language problems, widely spaced eyes, prominent jaw, and high arched palate. Intelligence varies from normal to mild learning disability. Children may be clumsy or ataxic (unsteady). Growth rate usually slows at 4-5 years. Early adolescent development usually occurs. Adults are usually within normal height parameters. Weaver syndrome is a condition characterised by: accelerated growth; mild hypotonia ; loose skin; thin hair; and camptodactyly (permanent immobility of a flexed finger joint). Inheritance patterns Most cases are sporadic mutations. Once established inheritance is autosomal dominant. Weaver syndrome inheritance probably has some pattern of inheritance though this has not been fully determined. Prenatal diagnosis Macrocephaly, large hands, long arms and excessive growth are detectable using ultrasound scanning. Genetic counselling is available for affected families.

82. Sotos TITLE Serial neuroimaging studies in Sotos syndrome (cerebral gigantism syndrome) . TITLE Scoliosis in cerebral gigantism, sotos syndrome. http://www.indiana.edu/~pietsch/sotos.html

return to Shufflebrain main menu SOTOS SYNDROME Infantile Giantism, the recent scientific literature A search of MEDLINE conducted at Indiana University , Bloomington, Indiana web contact: pietsch@indiana.edu The following items were compiled from MEDLINE using SilverPlatter and are presented with the latter organization's generous co-operation and permission. ( See SilverPlatter's Worldwide Library for bibliographic search information Sotos syndrome infantile (cerebral) giantism is a pre- and post-natal condition of in which a child's head and muscles grow at abnormally rapid rates and become unusually large. The cause is unknown. Useful Links: NINDS (National Institutes of Health) NORD Sotos Support Group Record 1 of 41 in MEDLINE EXPRESS (R) 1999/01-1999/10 TITLE: Tumors and nontumors in Sotos syndrome [letter] AUTHOR(S): Cohen-MM Jr SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 May 21; 84(2): 173-5 INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299 PUBLICATION YEAR: 1999 LANGUAGE OF ARTICLE: ENGLISH COUNTRY OF PUBLICATION: UNITED-STATES MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Diagnosis,-Differential; Infant-; Nevus-diagnosis; Syndrome-

83. GASNet Anesthesiology: Contents A - C cerebral gigantism. Sotos s Syndrome (cerebral gigantism). Cerebrohepatorenal.Bowen Syndrome (Cerebrohepatorenal Syndrome). Cerebrohepatorenal http://www.gasnet.org/pediatric-syndromes/a2c_br.php

Contents A - C - pediatric syndromes - Acidosis Fanconi's Syndrome (Renal Tubular Acidosis) Albers Albers - Schönberg Disease (Osteopetrosis, Marble Bone Disease) Albright Albright - Butler Syndrome (Primary Distal Renal Tubular Acidosis) Albright McCune - Albright Syndrome Aldrich Wiskott - Aldrich Alström Alström Syndrome Analbumenia Analbumenia Analphalipoproteinemia Tangier Disease (Analphalipoproteinemia) Andersen Andersen Disease (Glycogen Storage Disease Type IV) Anderson Anderson Syndrome Angelman Angelman's Syndrome Angioneurotic Hereditary Angioneurotic Edema Angioosteohypertrophy Klippel - Trenaunay Syndrome (Angioosteohypertrophy) Anhydrotic Christ - Siemens - Touraine Syndrome (Anhydrotic Ectodermal Dysplasia) Apert Apert Syndrome Arnold Arnold - Chiari Malformation Arthogryposis Arthogryposis Multiplex Congenita Asphyxiating Jeune's Syndrome (Asphyxiating Thoracic Dystrophy) Ataxia Ataxia - Telangiectasia Ataxia Friedreich's Ataxia Auricular Goldenhar Syndrome (Auriculo Vertebral Syndrome) Bardet Bardet - Biedl Syndrome Barré Guillain - Barré Syndrome Bartter Bartter Syndrome Bassen Bassen - Kornzweig Syndrome Beckwith Beckwith - Wiedemann Syndrome Behçet Behçet Syndrome Blackfan Blackfan - Diamond Syndrome Biedl Bardet - Biedl Syndrome Biedl Lawrence - Moon - Biedl Syndrome Bloch Bloch - Sulzberger Syndrome Bowen Bowen Syndrome (Cerebrohepatorenal Syndrome) Bullae Cockayne - Touraine Syndrome (Dystrophic Epidermolysis Bullae) Butler Albright - Butler Syndrome (Primary Distal Renal Tubular Acidosis) Carpenter Carpenter Syndrome Central Core

84. FAIVRE L Apparent sotos syndrome (cerebral gigantism) in a child with trisomy20p11.2p12.1 mosaicism. Amer. J. Med. Genet., 91 (4), 273-276, 2000 http://www.necker.fr/irnem/Unites 2000/histo.htm

FAIVRE L., PRIEUR A.M., LE MERRER M., HAYEM F., PENET C., WOO P., HOFER M., DAGONEAU N., SERMET I., MUNNICH A., CORMIER-DAIRE V. Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Amer. J. Med. Genet., (Services cités : The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition characterized by the association of congenital or early onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia, Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions have been observed in some patients, Recently, the disease gene has been assigned to human chromosome region 1q25-q31, and truncating mutations have been identified in the megakaryocyte stimulating factor gene, Studying 12 patients from 8 unrelated families, we emphasized hip and spine involvement, particularly in the course of the disease as shown in a 58-year-old patient. Despite clinical variability, linkage studies support genetic homogeneity of the disease. [References: 25] FAIVRE L., VIOT G., PRIEUR M., TURLEAU C., GOSSET P., ROMANA S., MUNNICH A., VEKEMANS M., CORMIER DAIRE V.

85. Tillväxtavvikelser, Storvuxna Barn E. Gigantism F. cerebral gigantism (Sotos syndrom) II. HÖG VIKT Definitioner Se OMIM (cerebral gigantism). II. HÖG VIKT. DEFINITIONER. Övervikt http://www.internetmedicin.se/dyn_main.asp?page=679

86. The Medical Algorithms Project, Chapter43 Overgrowth Syndromes, Phenotypic Features of Sotos Syndrome (cerebral gigantism).Myotonic Dystrophy, Phenotypes of Gennarelli et al in Myotonic Dystrophy http://www.medalreg.com/www/inactive/ch43.html

43. Medical Genetics Algorithm references are at the bottom of this window In the following only the first few algorithm links are active. To activate all please register (free) and login with your username Section Algorithm Guidelines and Indications for Genetic and Chromosome Analysis Indications for Genetic Evaluation Indications for Chromosome Analysis in Assisted Fertilization Guidelines for Genetic Screening to Detect Heterozygotes (Carrier Detection) Number Needed to Screen (NNS) Guidelines of the International Myotonic Dystrophy Consortium for Genetic Testing in Myotonic Dystrophy Ethical Guidelines of Ross and Moon for Genetic Testing of a Child Data of Macpherson et al for Predicting the Probability of Successful In Vitro Tissue Culture Growth from a Stillborn Fetus or Newborn Infant General Characteristics of Genetic Disorders With Mendelian Inheritance Hardy-Weinberg Formula and Gene Frequencies Hardy-Weinberg Formula Direct Count of Gene Frequencies Huntington's Chorea Risk of Huntington's Chorea in a Healthy First Degree Relative with an Affected Parent Risk of Huntington's Chorea in a Health Second Degree Relative with Unaffected Parent Age of Onset of Huntington's Chorea Based on the CAG Repeat Size Predicting the Risk of Recurrence Equation of Friedman for Predicting the Risk of Recurrence for an Autosomal Dominant Disease with Negative Family History Equation of Young for Predicting the Risk of Recurrence for an Autosomal Dominant Disease with Negative Family History Recurrence Risk for Germinal Mosaics

87. Sotos Syndrom - Små Och Mindre Kända Handikappgrupper En annan benämning på tillståndet är cerebral gigantism, som betyder storväxthetutlöst cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. http://www.sos.se/smkh/1997-29-020/1997-29-020.htm

Socialstyrelsen 106 30 Stockholm Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Sotos syndrom Cerebral gigantism Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Dokumentinformation Dokumentdatum: 2004-06-22 HTML-version: 4.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik Praktiska tips mun-h-center@vgregion.se , Internetadress www.mun-h-center.com Resurspersoner Kurser, erfarenhetsutbyte, rekreation agrenska@agrenska.se

88. Clinical Obstetrics And Gynecology - UserLogin Weaver syndrome is a rare disorder marked by accelerated skeletal growth,campylodactyly, and unusual facies. Seizures and cerebral gigantism may occur. http://www.clinicalobgyn.com/pt/re/clnobgyn/fulltext.00003081-200006000-00006.ht

LWWOnline LOGIN eALERTS REGISTER ... Archive You are attempting to access protected content. To access this content please login using an established account or create/activate an account. If you have already created/ activated an online account, please login below: User Name: Password: Note: passwords are CASE SENSITIVE If you are a new user or guest visiting an LWWonline site for the first time, please complete the new account setup process to view or purchase content. Forgot your password? Subscribe Renewal Information Subscribe to RSS feed utrdc-pt01 Release 4.0

89. List Of Diseases: C - CureResearch.com cerebral gigantism see Soto s Syndrome; Cerebral haemorrhage see Cerebralhemorrhage Cerebral hemorrhage; Cerebral malaria type of Malaria http://www.cureresearch.com/lists/condsc.htm

IMPORTANT! Use of this site is subject to our Home Contents Diseases Search Search: Condition Lists By Organ By Class By Prevalence By Deaths ... Full List Current chapter: Disease and Condition Lists Next sections List of Diseases: D List of Diseases: E List of Diseases: F List of Diseases: G ... List of Diseases: H Next chapters: Disease Statistics Category Lists Administrative Pages Medical Dictionary ... Malpractice List of Diseases: C A B C D ... Z C C. neoformans ... see Cryptococcosis C. neoformans var. gattii ... type of Cryptococcosis C. neoformans var. neoformans ... type of Cryptococcosis C. pneumoniae ... see Chlamydia pneumoniae CAD ... see Coronary heart disease CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) ... type of Multi-Infarct Dementia Caesarian Section Caisson disease ... see Decompression sickness Calcaneofibular ligament sprain ... type of Ankle sprain Calcification Calcinosis Calcium deficiency Calcium metabolism disorders ... type of Metabolic disorders Calcium stone ... type of Kidney stones Calcium stones ... type of Urinary stones Calcivirus ...

90. Gigantism cerebral gigantism (The Mosby Medical Encyclopedia). exophthalmosmacroglossia-gigantismsyndrome (The Mosby Medical Encyclopedia) http://www.infoplease.com/ce6/sci/A0820796.html

in All Infoplease Almanacs Biographies Dictionary Encyclopedia Daily Almanac for Sep 8, 2005 Skip Navigation Home Almanacs ... Word of the Day Editor's Favorites Back to School Hurricanes Daylight Saving Time Hispanic Heritage Month ... Mississippi Infoplease Tools Periodic Table Conversion Tool Perpetual Calendar Year by Year ... Site Map College Center Scholarship Search College Resources Career Center Job Search Post Your Resume Continuing Ed. more . . . Search: Infoplease Info search tips Search: Biographies Bio search tips google_ad_client = 'pub-1894504138907931'; google_ad_width = 120; google_ad_height = 240; google_ad_format = '120x240_as'; google_ad_type = 'text'; google_ad_channel =''; google_color_border = ['336699','B4D0DC','DFF2FD','B0E0E6']; google_color_bg = ['FFFFFF','ECF8FF','DFF2FD','FFFFFF']; google_color_link = ['0000FF','0000CC','0000CC','000000']; google_color_url = ['008000','008000','008000','336699']; google_color_text = ['000000','6F6F6F','000000','333333']; Encyclopedia gigantism gigantism, acromegaly results. Giants appear in the legends and folklore of many cultures. The Columbia Electronic Encyclopedia

91. Congenital, Hereditary, And Neonatal Diseases And Abnormalities Syndrome Branchio-Oto-Renal Syndrome - Cat Eye Syndrome (not on MeSH) -cerebral gigantism (not on MeSH) - CHARGE Syndrome (not on MeSH) - Chromosome http://www.mic.ki.se/Diseases/c16.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database -NOTE: info may be outdated!! [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [B Mertz] - Access Excellence GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com

92. General Information and mental retardation),9 Sotos syndrome (characterized by cerebral gigantism),and SimpsonGolabi-Behemel syndrome (characterized by macroglossia, http://www.acor.org/cnet/62789.content.tmp

Wilms’ Tumor and Other Childhood Kidney Tumors General Information This cancer treatment information summary provides an overview of the prognosis, diagnosis, classification, staging, and treatment of Wilms’ tumor and other childhood kidney tumors (i.e., clear cell sarcoma of the kidney, rhabdoid tumor of the kidney, neuroepithelial tumor of the kidney, and cystic partially-differentiated nephroblastoma). (Refer to the PDQ summary on Unusual Cancers of Childhood for more information about childhood renal cell carcinoma treatment.) The National Cancer Institute provides the PDQ pediatric cancer treatment information summaries as a public service to increase the availability of evidence-based cancer information to health professionals, patients, and the public. These summaries are updated regularly according to the latest published research findings by an Editorial Board of pediatric oncology specialists. Cancer in children and adolescents is rare. Children and adolescents with cancer should be referred to medical centers that have a multidisciplinary team of cancer specialists with experience treating the cancers that occur during childhood and adolescence. This multidisciplinary team approach incorporates the skills of the primary care physician, pediatric surgical subspecialists, radiation oncologists, pediatric medical oncologists/hematologists, rehabilitation specialists, pediatric nurse specialists, social workers, and others in order to ensure that children receive treatment, supportive care, and rehabilitation that will achieve optimal survival and quality of life. Refer to the PDQ

93. List Of Neurological Disorders -- Facts, Info, And Encyclopedia Article cerebral gigantism (A loss or deficiency of motor control with involuntary spasmscaused by permanent brain damage present at birth) Cerebral palsy http://www.absoluteastronomy.com/encyclopedia/L/Li/List_of_neurological_disorder

List of neurological disorders [Categories: Psychiatric disorders, Lists of diseases] This is a list of major and frequently observed (A disorder of the nervous system) neurological disorder s (e.g. (Click link for more info and facts about Alzheimer's disease) Alzheimer's disease ), symptoms (e.g. (Click link for more info and facts about back pain) back pain ), signs (e.g. (Inability to use or understand language (spoken or written) because of a brain lesion) aphasia ) and syndromes (e.g. (Click link for more info and facts about Aicardi syndrome) Aicardi syndrome A Acquired Epileptiform Aphasia (Click link for more info and facts about Acute Disseminated Encephalomyelitis) Acute Disseminated Encephalomyelitis (Click link for more info and facts about Adrenoleukodystrophy) Adrenoleukodystrophy (Click link for more info and facts about Agenesis of the corpus callosum) Agenesis of the corpus callosum (Inability to recognize objects by use of the senses) Agnosia (Click link for more info and facts about Aicardi syndrome) Aicardi syndrome (Click link for more info and facts about Alexander disease) Alexander disease (Click link for more info and facts about Alpers' disease) Alpers' disease (Click link for more info and facts about Alternating hemiplegia) Alternating hemiplegia (Click link for more info and facts about Alzheimer's disease) Alzheimer's disease Amyotrophic lateral sclerosis (see (Click link for more info and facts about Motor Neurone Disease) Motor Neurone Disease (A defect in brain development resulting in small or missing brain hemispheres)

94. Gendia | FISH Analysis cerebral gigantism. 117550. 5p11.1 q11.1 deletion. TSC2 - PKD1 DELETION.16p13.3 - p13.12 deletion. VELOCARDIOFACIAL, VCF » SHPRINTZEN » CATCH22 http://www.gendia.net/tests_tab15.html

FISH Analyses 1. Microdeletion Syndromes Please send: - at least 3 ml of heparinised (Na of Li) whole blood, - or 10 to 20 ml of amniotic fluid, - or at least 10 mg of chorionic villi. Syndrome OMIM Target ALAGILLE, AGS » ARTERIOHEPATIC DYSPLASIA 20p12 deletion ANGELMAN, AS » HAPPY PUPPET SYNDROME 15q11 - q13 deletion BECKWITH-WIEDEMANN, BWS » EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME 11p15.1 - p15.2 duplication CHARCOT-MARIE-TOOTH TYPE 1A, CMT1A 17p11.2 duplication CRI DU CHAT » CAT CRY SYNDROME 5p15.2 deletion DIGEORGE, DGS 10p13 - p14 deletion DIGEORGE, DGS 22q11.2 / 22q13 deletion GONADAL DYSGENESIS » XY FEMALE » SWYER SYNDROME » DELETION SEX-DETERMINING REGION Y, SRY Yp11.3 / Xp11.1-q11.1 deletion ICHTHYOSIS DUE TO STEROID SULFATASE DEFICIENCY Xp22.32 deletion KALLMANN, KAL1 » HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA Xp22.3 / Xp11.1-q11.1 deletion

95. Dorlands Medical Dictionary cerebral gigantism, gigantism in the absence of increased levels of growth hormone,attributed to a cerebral defect; infants are large, and accelerated http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

96. C Index CEREBELLAR HYPOPLASIA. CEREBELLOOCULOCUTANEOUS TELANGIECTASIA. CEREBELLORETINALHEMANGIOBLASTOMATOSIS. cerebral gigantism http://www.childhealthinfo.com/cindex.htm

ChildHealthInformation Center - The Online Database A B C D ... Z Please click on the "box below" to view the following topics. C Part I CAESAREAN DELIVERY CALCIUM CAMPS CANADIAN RESOURCES CANCER CAR SAFETY CARBAMYL PHOSPHATE SYNTHETASE (CPS) DEFICIENCY CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (CDGS) CARDIO-FACIO-CUTANEOUS SYNDROME CARDIOPULMONARY RESUSCITATION (CPR), CHOKING CARIES/CAVITIES CARNITINE DEFICIENCY CARPENTER SYNDROME CARTILAGE-HAIR HYOPLASIA CAT'S CRY SYNDROME CATALOGS (for CHILDREN PRODUCTS, etc.) CATARACTS CAUSALIGIA SYNDROME CD-ROM PUBLICATIONS CELEBRITIES CELIAC DISEASE CELIAC SPRUE CENTERS FOR DISEASE CONTROL CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL CEREBELLAR HYPOPLASIA CEREBELLO-OCULOCUTANEOUS TELANGIECTASIA CEREBELLORETINAL HEMANGIOBLASTOMATOSIS CEREBRAL GIGANTISM Please click on the "box below" to view the following topics. C Part II CEREBRAL PALSY CEREBROOCULORENAL CEREBROSIDE LIPIDOSIS CEREBROTENDINOUS XANTHOMATOSIS CESAREAN BIRTH CHALASODERMIA CHANARIN-DORFMAN SYNDROME CHARCOT-MARIE-TOOTH DISEASE CHARGE SYNDROME CHARITY CHEMICAL PRODUCTS CHEMKE SYNDROME CHICKEN-POX CHILD ABUSE AND NEGLECT CHILD ADVOCACY CHILD BEHAVIOR and DISCIPLINE CHILD CARE (HOW-TO) CHILD CUSTODY CHILD DAY CARE CHILD DEVELOPMENT CHILD PERSONALITY CHILD PRODUCTS CHILD SUPPORT CHILDBIRTH CHILDBIRTH, NATURAL

97. Endotext.com - Pediatric Endocrinology, Gigantism Sotos syndrome, also known as cerebral gigantism, was first described in 1964103.Since then, several hundred cases have been reported. http://www.endotext.org/pediatrics/pediatrics1b/pediatrics1b.htm

GIGANTISM Chapter 1B - Erica A. Eugster and Ora H. Pescovitz May 19, 2004 Index Contributors Search I. INTRODUCTION Gigantism refers to a condition characterized by extreme physical size and stature. By definition, this originates during infancy, childhood or adolescence, while epiphyseal growth plates remain open. Although often used to specifically denote growth hormone excess, the term gigantism is also applied to a number of non-hormonally mediated overgrowth conditions in children. All forms of gigantism are extremely rare, and have in common a complex pathophysiologic origin and extraordinary clinical manifestations. Although many aspects of overgrowth disorders remain to be elucidated, insights into the molecular genetic basis of several forms of gigantism have contributed greatly to our understanding of specific mediators of growth and cellular function. Both growth hormone hypersecretion and overgrowth syndromes will be reviewed in this chapter. II. GROWTH HORMONE EXCESS . The major difference between these two conditions is that gigantism results from excessive GH production during the period of active growth, and acromegaly results from GH excess ensuing after epiphyseal fusion has occurred. A further distinction relates to the overall incidence of these disorders. While acromegaly is uncommon, occurring at an estimated worldwide annual rate of 2.8-4 cases per million

98. Search By Disease Cerebral cholesterinosis. 140, cerebral gigantism. 141, Cerebral hemorrhage,familial. 142, Cerebral hemorrhage, hereditary, with amyloidosis http://www.eddnal.com/directory/disease.php?letter=C&page=10

99. UCSD Musculoskeletal Radiology exclude cerebral gigantism (.1712 pituitary gigantism (.511) .145 Congenitalbowing. exclude camptomelic syndrome (.1624), physiological bowing (.135) http://medicine.ucsd.edu/bonepit/ACR film library/Pathology index.htm

UCSD Musculoskeletal Radiology bonepit.com Pathology Index .1 NORMAL ROUTINE PLAIN FILM exclude. normal variant (.13) .12 SPECIAL TECHNIQUE, PROCEDURE, PROJECTION Digital radiographic techniques, tomography, MR, nuclear medicine .1211 Computed tomography .12111 Unenhanced .12112 Enhanced with intravenous drip or bolus .12113 Dynamic enhanced technique .12114 Delayed scanning following enhancement (e.g., for detection of liver lesions) .12115 Spiral scanning .12116 CT angiography .12117 Three-dimensional reconstruction .12118 High-resolution technique .12119 Other, including serial enhancement studies (e.g., for diagnosis of hemangioma) .1214 Magnetic resonance (MR) .12141 Morphologic magnetic resonance imaging .121411 Spin echo .121412 Gradient echo .121413 Inversion recovery .121414 Chemical shift imaging .121415 Specific resonance suppressed include: fat suppression, water suppression .121416 High-speed imaging include: echo planar .121417 Magnetization transfer .121419 Other .12142 MR angiography (morphological vascular imaging) .12143 Contrast-enhanced studies, trace studies

100. Familial Sotos Syndrome Is Caused By A Novel 1 Bp Deletion Of The NSD1 Gene -- H cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Familial Sotossyndrome (cerebral gigantism) craniofacial and psychological http://jmg.bmjjournals.com/cgi/content/full/40/1/51

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Matsumoto, N Related Collections Genetics Journal of Medical Genetics BMJ Publishing Group LETTER TO JMG Familial Sotos syndrome is caused by a novel 1 bp deletion of the gene N Kurotaki N Miyake M Somer and N Matsumoto Department of Paediatrics, University of Helsinki, Helsinki, Finland Department of Clinical Genetics, University of Helsinki, Helsinki, Finland Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan CREST, Science and Technology Corporation, Kawaguchi, Japan Medix Laboratories Ltd, Espoo, Finland and Institute of Medical Technology, University of Tampere and Tampere University Hospital, Finland

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 5     81-100 of 104    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20