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Silver-russell Syndrome: more detail

Silver-Russell Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by Icon Health Publications, 2004-06-09
Growth Disorders: Achondroplasia, Dwarfism, Acromegaly, Primordial Dwarfism, Psychosocial Short Stature, Midgetville, Silver-russell Syndrome
Russell-Silver syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Paul Johnson, 2005

lists with details

Pediatrics Head Circumference And Body Proportions Before And
by other syndromes (eg, emotional deprivation, severe chronic illness,chondrodysplasia), with the exception of silverrussell syndrome, were excluded.
http://www.findarticles.com/p/articles/mi_m0950/is_3_114/ai_n6206676
Silver-Russellin Oireyhtymä - Kehitysvamm. Tietopankki
A newborn girl with suspected silverrussell syndrome, Nordmann Y, The spectrumof silver-russell syndrome a clinical and molecular genetic study and
http://www.saunalahti.fi/kup/syndroma/silver-russell.htm

Extractions: Russell-Silverin dwarfismi Oireyhtymä koostuu sikiöaikaisen kasvun vajavuudesta, syntymänjälkeisestä luuston kehityksen epäkypsyydestä, kasvun epäsymmetrisyydestä, seksuaalisen kehityksen poikkeavuudesta, pienistä kolmiomaisista kasvoista, ihon maitokahvimaisista läiskistä, sormijäsenten epämuodostumista, lantion tai kyynärpäiden sijoiltaan menoista ja muista epämuodostumista. Vammautuneen otsa on ulkoneva tai kohoava, alaleuka pieni ja kärjekäs. Kovakalvo (silmämunan valkoinen kerros) on sinertävä. Suu on suuri ja alakulmistaan alaspäin kääntynyt. Sormien ja varpaiden keskijäsenet ovat vajaakasvuiset aiheuttaen koukkuisuutta ja viidensien sormien vinoutumista. Raajojen pitkät luut ovat hontelot ja olkaluut lyhyet. Muita ominaisuuksia ovat verensokerin niukkuus, munuaistiehyiden happomyrkytystila, kasvaneet gonadotropiini-tasot (sukupuolihormonien eritystä sääteleviä hormoneja) ja toisinaan kasvuhormonin vähäisyys. Kasvun hidastuminen ja toisinaan psyykkinen kehitysvammaisuus ovat tyypillisiä piirteitä. Noin kolmanneksella vammautuneista lapsista on siittimen alahalkio ja piilokivekset. Virtsateiden poikkeuksia ovat vesimunuainen, virtsanjohtimien tukos, munuaisaltaan ja munuaisen tulehdus, virtsan takaisinvirtaus ja munuaisten laajentuma.
[Frontiers In Bioscience 9, 387-403, January 1, 2004]
Grb10 imprinting and silverrussell syndrome; 5. Structure and function of Grb10domains 5.1. Proline rich sequence 5.2. Pleckstrin homology (PH) domain
http://www.bioscience.org/2004/v9/af/1226/3.htm

Extractions: [Frontiers in Bioscience 9, 387-403, January 1, 2004] Grb10: MORE THAN A SIMPLE ADAptor PROTEIN Mei A. Lim , Heimo Riedel , and Feng Liu Department of Pharmacology, University of Texas Health Science Center at San Antonio, San Antonio, Texas, 78229, USA, Department of Biological Sciences, Wayne State University, Detroit, Michigan, 48202, USA TABLE OF CONTENTS 1. Abstract 2. Introduction 3. Grb10 discovery, genomic structure and splice variants 4. Grb10 tissue distribution and imprinting 4.1. Mouse Grb10 4.2. Human Grb10 4.3. Grb10 imprinting and Silver-Russell Syndrome 5. Structure and function of Grb10 domains 5.1. Proline rich sequence 5.2. Pleckstrin homology (PH) domain 5.3. Src homology domain 2 (SH2) domain 5.4. Domain b etween the P H and S H2 (BPS) 6. The role of Grb10 in signaling 6.1. Interaction of Grb10 with receptor tyrosine kinases 6.1.1. Effect of Grb10 on insulin signal transduction 6.1.2. Effect of Grb10 on biological events downstream of IR/IGF-IR 6.1.3. Interaction of Grb10 with other receptor tyrosine kinases 6.2. Interaction of Grb10 with non-receptor kinases
Silver-Russells Syndrom - Små Och Mindre Kända Handikappgrupper
Craniofacial and dental characteristics of silverrussell syndrome. Growth hormone therapy in Silver Russell Syndrome 5 years experience of the
http://www.sos.se/smkh/2001-29-128/2001-29-128.HTM

Extractions: HTML-version 1.0 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. Orsak till sjukdomen/skadan Symtom Dessutom styrks diagnosen ytterligare om barnet har: 5. Krokiga lillfingrar. Praktiska tips Resurspersoner kerstin.albertsson-wikland@pediat.gu.se
Newsletter References
Ranke MB, Lindberg A. Growth hormone treatment of short children born small forgestational age or with silverrussell syndrome results from KIGS (Kabi
http://www.aap.org/sections/Endocrinology/references.htm

Extractions: References Botero D, Lifshitz F. Intrauterine growth retardation and long-term effects on growth. Curr Opin Pediatr 11:340-347,1999. Chatelain P, Peretti N, Lapillonne A, Nicolino M, Salle B, et al. New insights into the postnatal growth of infants born "idiopathic' small for gestational age. J Pediatr Endocrinol Metab 14:1515-1519,2001.
Medizinische Genetik
silverrussell syndrome, ascertainment of total and segmental uniparental disomySupported by Novartis. Molecular genetic and clinical investigations of
http://www.medgen.unizh.ch/Pages/Forschung.html

Extractions: Angelman Syndrom Beckwith-Wiedemann Syndrom CATCH-22 Chromosomenuntersuchung Cystische Fibrose FISH-Schnelltest Fragiles X Syndrom Klinefelter Syndrom Myotone Dystrophie Steinert Prader-Willi Syndrom Rett Syndrom Silver-Russel Syndrom (UPD7) Subtelomer-FISH Turner Syndrom Williams Syndrom - Zytogenetik - Molekulargenetik Albright Syndrom Angelman Syndrom Bardet-Biedl Syndrom Beckwith-Wiedemann Syndrom Cystische Fibrose Chorea Huntington DiGeorge Syndrom Down Syndrom Fragiles X Syndrom Mikrodeletion 22q11 Miller-Dieker Syndrom Myotone Dystrophie Steinert Neuralrohrdefekte Neurofibromatose Prader-Willi Syndrom Rett Syndrom Shprintzen Syndrom Smith-Lemli-Opitz Syndrom Sotos Syndrom Spinale Muskelatrophie Smith-Magenis Syndrom Uniparentale Disomie Velo-cardio-faciales Syndrom Williams Syndrom RESEARCH PROJECTS DIVISION OF MEDICAL MOLECULAR GENETICS AND GENE DIAGNOSTICS Eye diseases ICF and Braegger Syndrome Lymphedema Marfan Syndrome ... Collaborations PROJECTS CONDUCTED BY PROFESSOR A. SCHINZEL AND DR. A. BAUMER
Medizinische Genetik
Martinez MJ, Binkert F, Schinzel A, Kotzot D. No Evidence of dup(7)(p11.2p13) insilverrussell syndrome Am J Med Genet 2001 99; 335-337
http://www.medgen.unizh.ch/Pages/Pub01.html

Extractions: Angelman Syndrom Beckwith-Wiedemann Syndrom CATCH-22 Chromosomenuntersuchung Cystische Fibrose FISH-Schnelltest Fragiles X Syndrom Klinefelter Syndrom Myotone Dystrophie Steinert Prader-Willi Syndrom Rett Syndrom Silver-Russel Syndrom (UPD7) Subtelomer-FISH Turner Syndrom Williams Syndrom - Zytogenetik - Molekulargenetik Albright Syndrom Angelman Syndrom Bardet-Biedl Syndrom Beckwith-Wiedemann Syndrom Cystische Fibrose Chorea Huntington DiGeorge Syndrom Down Syndrom Fragiles X Syndrom Mikrodeletion 22q11 Miller-Dieker Syndrom Myotone Dystrophie Steinert Neuralrohrdefekte Neurofibromatose Prader-Willi Syndrom Rett Syndrom Shprintzen Syndrom Smith-Lemli-Opitz Syndrom Sotos Syndrom Spinale Muskelatrophie Smith-Magenis Syndrom Uniparentale Disomie Velo-cardio-faciales Syndrom Williams Syndrom Martinez M-J, Binkert F, Schinzel A, Kotzot D. No Evidence of dup(7)(p11.2p13) in Silver-Russell Syndrome Am J Med Genet 2001 99; 335-337
Full Listing
SHWACHMAN SYNDROME, SIALIC ACID STORAGE DISEASE, SIALIDOSIS, SICKLE CELL,silverrussell syndrome, SINGLE PARENTS, SKELETAL DYSPLASIA, SKIN DISORDERS,
http://www.doctor.gp/help/full_listing.htm
Russell-Silver Syndrome
frequently, asymmetry in the size of the two halves or other parts of the body.Alternative Names. silverrussell syndrome; Silver syndrome
http://www.healthscout.com/ency/1/001209.html

Extractions: Search HealthScout Web MEDLINE Special Offers TV Specials Chronic Pain Erectile Dysfunction GERD Diabetes ... High Tech Health Top Features Bipolar Disorder Resources Sleep Skin Cancer Migraines ... Diabetes Health Organizer Resources Healthscout News 3D Health Animations Health Videos Health Encyclopedia ... Drug Library Drug Information Drug Search Drug Interactions Image Database Pill Identifier Channels Home Today Women Men ... Drug Checker Medical Health Encyclopedia Injury Disease Nutrition Poison ... Prevention Definition: Rusell-Silver syndrome is a congenital disease (present at birth) characterized by short stature and, frequently, asymmetry in the size of the two halves or other parts of the body. Causes, incidence, and risk factors: Genetic problems are thought to cause this syndrome, although the specific gene(s) remain to be discovered. The pattern of inheritance has not been determined, but in most cases it seems to occur without any family history of the condition. Children with Russell-Silver syndrome are born small and generally achieve less than 5 feet at adult height. Side-to-side asymmetry is fairly common. For example, a left body part may be larger than the right counterpart. This asymmetry may occur anywhere including the face.
Identification Of The Meg1/Grb10 Imprinted Gene On Mouse Proximal Chromosome 11,
silverrussell syndrome a dissection of the genetic aetiology and candidatechromosomal regions silver-russell syndrome and ring chromosome 7
http://www.pnas.org/cgi/content/abstract/95/3/1102

Extractions: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Citation Map Services Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles Search for citing articles in: Identification of the imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene androgenetic embryos prenatal growth deficiency growth factor receptor-bound protein insulin and insulin-like growth factors signal transduction pathways Naoki Miyoshi Yoshimi Kuroiwa Takashi Kohda Hiroshi Shitara Hiromichi Yonekawa Tohru Kawabe Hideaki Hasegawa Sheilla C. Barton M. Azim Surani Tomoko Kaneko-Ishino and Fumitoshi Ishino Gene Research Center, Tokyo Institute of Technology
2003 [UK-Aachen]
Translate this page Genetic disturbances in silver-russell syndrome and significance for molecular Genetic findings in silver-russell syndrome up-date and applications for
http://www.ukaachen.de/content/listpage/3951306
Silver-Russell, Syndrome De
Translate this page Base de données sur les maladies rares et les médicaments orphelins.
http://www.orpha.net/static/FR/silverrussell.html
► Russell-Silver Syndrome
A medical encycopedia article on the topic Russell-Silver syndrome. Alternative Names. Silver Russell syndrome; Silver syndrome
http://www.umm.edu/ency/article/001209.htm

Extractions: Causes, incidence, and risk factors: Genetic problems are thought to cause this syndrome although the specific gene(s) remain to be discovered. The pattern of inheritance has not been determined but in most cases it seems sporadic, that is to say, there is no family history in preceding generations/siblings. Children with Russell-Silver syndrome are born small and generally achieve less than 5 feet at adult height. Side-to-side asymmetry is fairly common, for example a left body part may be larger than the right counterpart. This asymmetry may occur anywhere including the face. Other findings include excessive sweating , a small triangular face which makes the skull look large by comparison, inward curving 5th fingers, and pigmented skin lesions called cafe-au-lait spots
Evidence Against A Major Role Of PEG1/MEST In SilverRussell Syndrome
The European Journal of Human Genetics is the official Journal of the EuropeanSociety of Human Genetics, publishing highquality, original research papers,
http://www.nature.com/ejhg/journal/v6/n2/abs/5200164a.html

Extractions: NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help SEARCH my account e-alerts subscribe register ... Site features NPG Subject areas Access material from all our publications in your subject area: Biotechnology Cancer Chemistry NEW! Dentistry Development Drug Discovery Earth Sciences ... Physics March 1998, Volume 6, Number 2, Pages 114-120 Table of contents Previous Abstract Next PDF Original paper Evidence against a major role of PEG1/MEST in Silver Russell syndrome Anne M Riesewijk , Nadya Blagitko , Albert A Schinzel , Landian Hu , Ute Schulz , Ben CJ Hamel , Hans-Hilger Ropers and Vera M Kalscheuer 2,a Department of Human Genetics, University Hospital Nijmegen, The Netherlands Max-Planck-Institute for Molecular Genetics, Berlin, Germany a Abstract Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by interauterine and postnatal growth retardation, with or without additional dysmorphic features. Most cases are sporadic but a few familial cases have been described. A subset of patients exhibit maternal uniparental disomy for chromosome 7 (mUPD7) strongly suggesting that genomic imprinting plays a role in the aetiology of the disease. We and others have recently characterised the human PEG1/MEST gene, the first imprinted gene known to be located on chromosome 7. Although the function of
Syndrome De Silver Russell
Translate this page Le syndrome de Silver Russel description et prise en charge. Service de PédiatrieCliniques St Luc Bruxelles.
http://www.pediatrie.be/Silver_ Russel.htm

Extractions: Dr. D. Hermans , L.Beauport A . Définition et Incidence Le syndrome de Silver Russell associe un retard de croissance intra-utérin sans croissance de rattrapage postnatale, avec plusieurs caractéristiques morphologiques et une asymétrie des membres. On ne connaît pas précisément lincidence de ce syndrome mais elle se situe entre 1/50.000 à 1/100.000 naissances vivantes et plus de 500 cas sont rapportés dans la littérature (1). B. Symptomatologie De nombreuses caractéristiques ont été décrites dans le syndrome de Silver Russell et expliquent la grande diversité phénotypique qui le caractérise (2,3). Les signes suivants se retrouvent dans la majorité des enfants présentant cette maladie: Petit poids à la naissance avec absence de rattrapage de croissance pendant les deux premières années de la vie Un rapport poids/taille insuffisant mais avec un périmètre crânien généralement normal pour lâge Une insuffisance ou une absence total dappétit lié à un fonctionnement anormal des récepteurs à la sérotonine au niveau du système nerveux central Asymétrie corporelle Visage triangulaire front large et bombé , pseudohydrocéphalie, hypoplasie du menton et du milieu de la face, coins de la bouche tournés vers le bas et lèvre supérieure mince, palais ogival, microdontie, oreilles bas implantées et en rotation postérieure ou oreilles saillantes (cfr photos
MedlinePlus Medical Encyclopedia: Topics Beginning With Si-Sp
Silicosis acute; Silver syndrome see Russell-Silver syndrome; Silver-Russellsyndrome see Russell-Silver syndrome Simian crease; Simple carbohydrates
http://www.nlm.nih.gov/medlineplus/ency/encyclopedia_Si-Sp.htm

Extractions: Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z SIADH see Dilutional hyponatremia (SIADH) Sialadenitis see Salivary gland infections Sialogram Sialography see Sialogram Sialolithiasis see Salivary duct stones Sibilant rhonchi see Wheezing Sick sinus syndrome Sickle cell anemia Sickle cell anemia - resources Sickle cell disease see Sickle cell anemia Sickle cell test Sickledex see Sickle cell test Sickness and chicken soup see Chicken soup and sickness Side pain see Flank pain Sideropenic dysphagia see Plummer-Vinson syndrome/esophageal web SIDS see Sudden infant death syndrome SIDS - resources Sigmoidoscopy Silent ear infection see Otitis media with effusion Silent otitis media see Otitis media with effusion Silicoproteinosis see Silicosis - acute Silicosis Silicosis - acute Silver syndrome see Russell-Silver syndrome Silver-Russell syndrome see Russell-Silver syndrome Simian crease Simple carbohydrates see Carbohydrates Simple pulmonary eosinophilia (Loeffler's syndrome) Simple seizure see Partial (focal) seizure Simple sugars see Carbohydrates Sinequan see Doxepin overdose Singapore hemorrhagic fever see Dengue hemorrhagic fever Single palmar crease see Simian crease Singultus see Hiccups Sinus infection see Sinusitis Sinus node dysfunction see Sick sinus syndrome Sinuses X-ray Sinusitis Sinusitis - acute see Sinusitis Sinusitis - chronic Siphonaptera see Fleas Sipple's syndrome see Multiple Endocrine Neoplasia (MEN) II Sitz bath Sjogren syndrome Skeletal limb abnormalities Skeletal survey see
Russell (Silver) Syndrome
RussellSilver syndrome Support Group Support Group Silver-Russellsyndrome, ascertainment of uniparental disomy; Also see Uniparental Disomy
http://www.bdid.com/russellsilver.htm
¡i¨u¨£¿ò¶Ç¯e¯f¤@ÂI³q¡j - ¥Í¤Æ¿ò¶ÇÀËÅç«Ç
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http://ntuh.mc.ntu.edu.tw/gene/genehelp/database/case/record_4.htm

Extractions: SilverÂå®v©ó1953¦~¡ARussellÂå®v©ó1954¦~¤À§O³ø§i¤F¤@¸s¤l®c¤º¥Íªø¿ðº¢( IUGR, intrauterine growth retardation ) ªº¨àµ£¡A³o¨Ç±w¨à¦P®É¨ã¦³¨§÷¸G¤p¡BÁy¤p§e¤T¨¤§Î¡B§C¦ì¦Õ¡B²Ä¤¤â«üÅs¦±µ¥¯S¼x¡A ¦¹¯g©ó¬O©R¦W¬°Silver -Russell syndrome¡C ¨ä¥L¦³§U©ó¶EÂ_ªº¯S¼x¡A¦p²Ä¤¤â«üÅs±×¡B¨Ö«ü¡B©@°Ø¤û¥¤´³¡B¤G¤âÁuªø«×¸û¨°ªµu ªº±wªÌ¬O¦]¬°²Ä7¹ï¬V¦âÅé¥À·½³æ¿Ë¤GÅé¯g (maternal uniparental disomy) ¡A¤Ö©ó1%ªº±wªÌ¦b¬V¦âÅé 7p11.2 - p12°Ï°ì¶¡¤@ÓGRB10 (human growth factor receptor-bound protein 10)ªº°ò¦]¦³ö¡C

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