81. DBGET Result: UniProt Q96L73 DISEASE Defects in NSD1 are the cause of sotos syndrome CC MIM117550; Most cases of sotos syndrome are sporadic and may CC represent new dominant http://www.genome.jp/dbget-bin/www_bget?uniprot Q96L73

82. NORD - National Organization For Rare Disorders, Inc. Synonyms of sotos syndrome. Cerebral Gigantism. Disorder Subdivisions sotos syndrome is a rare genetic disorder characterized by excessive growth that http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Sotos Syndrom

83. Altered Insulin Sensitivity And Secretion In Sotos Syndrome Background sotos syndrome is an uncommon condition characterised by rapid growth, There is limited data on metabolic abnormalities in sotos syndrome. http://www.endocrine-abstracts.org/ea/0005/ea0005p97.htm

Endocrine Abstracts previous abstract next abstract Abstract Altered insulin sensitivity and secretion in sotos syndrome S Nag , SMA Bennett , J Gerrard , M Walker Department of Endocrinology, University of Newcastle, Newcastle upon Tyne; Department of Diabetes and Metabolism, University of Newcastle, Newcastle upon Tyne. Background: Sotos syndrome is an uncommon condition characterised by rapid growth, large body size and acromegaloid facies.There is limited data on metabolic abnormalities in Sotos syndrome. Aims: We investigated insulin sensitivity and secretion rates in a 22 year old girl with Sotos syndrome, prompted by the observation of a flat glucose response after an oral glucose challenge. Methods: Glucose tolerance was assessed with a 75g 2-h oral glucose tolerance test (OGTT), with paired samples for plasma glucose and insulin measured every 30-min. Insulin sensitivity was assessed during a 150-min euglycaemic hyperinsulinaemic clamp.Insulin secretion rates (ISR) were calculated from C-peptide kinetics during a stepped glucose infusion over 160-min. Results: The subject's BMI was 30.02 kg/m

84. Jahrbuch-CD Der MPG 2003 - Mutations In NSD1 Are Responsib Mutations in NSD1 are responsible for sotos syndrome, but are not a frequent finding In contrast to the high mutation detection rate in sotos syndrome, http://www.mpg.de/forschungsergebnisse/wissVeroeffentlichungen/archivListenJahrb

Publikation Beteiligte Max-Planck-Institute MPI f¼r molekulare Genetik Autoren Tuerkmen, S.; Gillessen-Kaesbach, G.; Meinecke, P.; Albrecht, B.; Neumann, L. M.; Hesse, V.; Palanduz, S.; Balg, S.; Majewski, F.; Fuchs, S.; Zschieschang, P.; Greiwe, M.; Mennicke, K.; Kreuz, F. R.; Dehmel, H. J.; Rodeck, B.; Kunze, J.; Tinschert, S.; Mundlos, S.; Horn, D.; Publikationstyp Artikel Titel Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes Zusammenfassung Quelle European Journal of Human Genetics Sprache English Rechte © 2003 Nature Publishing Group Identifikation ISI 000186074200007 ISSN 1018-4813 DOI 10.1038/sj.ejhg.5201050 Schlagworte NSD1, Sotos syndrome, Weaver syndrome, direct sequencing, FISH

85. Server/Human/doc : Haploinsufficiency of NSD1 causes sotos syndrome. The results indicate thathaploinsufficiency of NSD1 is the major cause of sotos syndrome. ; http://veille-srv.inist.fr/bin/dilib/AppliHuman2/doc.fibres.cgi?/applis/veille/h

86. Journal Of The American Academy Of Child And Adolescent Psychiatry : Language An Current Article Language and behavior in children with sotos syndrome. The prevalence of sotos syndrome is unknown, and the heritability has not yet http://static.highbeam.com/j/journaloftheamericanacademyofchildandadolescentpsy/

Library Web Executives New! ... Customer Support Question / Keyword(s): Advanced Search Current Article: Language and behavior in children with Sotos syndrome. Start J Journal of the American Academy of Child and Adolescent Psychiatry November 01, 1994 ... Language and behavior in children with Sotos syndrome. Language and behavior in children with Sotos syndrome. Journal of the American Academy of Child and Adolescent Psychiatry; November 01, 1994; Finegan, Jo-Anne K. Cole, Trevor R.P. Kingwell, Elaine Smith, Mary Lou Smith, Meagan Sitarenios, Gabriel Finegan, Jo-Anne K. Cole, Trevor R.P. Kingwell, Elaine Smith, Mary Lou Smith, Meagan Sitarenios, Gabriel Journal of the American Academy of Child and Adolescent Psychiatry November 01, 1994 Examination of behavioral characteristics in a number of genetic conditions has led to the view that specific syndromes are associated with particular "behavioral phenotypes." In the present report we examine the behavioral phenotype of children with Sotos syndrome. Sotos syndrome (Sotos et al., 1964) involves early accelerated growth ([greater than]97th percentile), advanced bone age, acromegaloid features, delayed attainment of early motor and language milestones, and a nonprogressive neurological disorder. Cole and Hughes (1990, 1994) present comprehensive descriptions of the syndrome including photographs that illustrate the facial gestalt and show frontal bossing, antimongoloid slant of the palpebral fissures, and prominent jaw. The prevalence of Sotos syndrome is unknown, and the heritability has not yet been determined, although the vast majority of cases appear to be sporadic. Neuropathological findings have not yet been reported.

87. CISE - Recherche syndrome de Sotos / sotos syndrome Support Association of Canada http://www.hsj.qc.ca/CISE/rech_101.asp?id_sujet=100339

88. Health Library - 12.42.224.150/library/healthguide/enus/SelfHelp/t Promotiessotos syndrome or cerebral gigantism was first described in 1964 by Professor Sotos . In the subgroup of patients with typical sotos syndrome 81% were http://12.42.224.150/library/healthguide/en-us/illnessconditions/topic.asp?hwid=

89. Sotos Syndrom - Små Och Mindre Kända Handikappgrupper sotos syndrome a study of the diagnostic criteria and natural history. Fifty microdeletions among 112 cases of sotos syndrome Low copy repeats 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

90. JW Pediatrics And Adolescent Medicine -- Sign In sotos syndrome is characterized by overgrowth starting in the prenatal periodand associated with advanced bone age and an enlarged skull. http://pediatrics.jwatch.org/cgi/content/full/2002/812/8

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91. Sotos Syndrome Syndrome, sotos syndrome. Synonyms, Nevo syndrome. Sotos sequence. cerebral gigantism.macrosomiamental retardation syndrome http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome604.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Sotos syndrome Synonyms Nevo syndrome Sotos sequence cerebral gigantism macrosomia-mental retardation syndrome mental retardation-overgrowth sequence Summary Increased birth weight with excessive growth during the first four years of life, macrocephaly, characteristic facial features, nonprogressive cerebral disorder and mental retardation. Major Features Head and neck: Macrocephaly, dolichocephaly and frontal bossing, and mandibular prognathism are the most frequent features. Eyes: Hypertelorism and downslanting palpebral fissures. Occasional nystagmus and strabismus. Mouth and oral structures: Highly arched palate and premature eruption of teeth. Hand and foot: Large hands and feet are a constant feature. Syndactyly may be associated Spine: Occasional vertebra plana and kyphoscoliosis. Muscles: Hypotonia and weakness. Skin appendages: Receding hairline and occasional brittle nails. Nervous system: Dilatation of the cerebral ventricles, absence of corpus callosum, and prominent cortical sulci and cavum septum pellucidum are common. Cardiovascular system: Congenital heart anomalies may occur.

92. Sotos Syndrome Information Page: National Institute Of Neurological Disorders An sotos syndrome Support Association PO Box 4626 Wheaton, IL 60189 sssa@well.com http//www.well.com/user/sssa Tel 888246-7772 http://www.ninds.nih.gov/disorders/sotos/sotos.htm

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Sotos Syndrome Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Soto's Syndrome NINDS Sotos Syndrome Information Page Synonym(s): Cerebral Gigantism Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Sotos Syndrome? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Sotos Syndrome? Is there any treatment? There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic. What is the prognosis? Sotos syndrome is not a life-threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age years, however, coordination problems may persist into adulthood. What research is being done?

93. NINDS Forwarding Page Also known as cerebral gigantism, an information sheet compiled by NINDS. http://www.ninds.nih.gov/health_and_medical/disorders/sotos.htm

NINDS has redesigned its website and the URL for the page you were seeking has changed. The new URL for this page is /disorders/sotos/sotos.htm . Please update your bookmark to this page. You will be automatically taken to this page in 5 seconds, or you can click the link to go there now.

94. Sotos' Syndrome (www.whonamedit.com) sotos syndrome A syndrome of excessive growth during the first 4 to 5 years oflife, cerebral gigantism, acromegalic features, and mild mental retardation http://www.whonamedit.com/synd.cfm/2464.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Sotos' syndrome Also known as: Nevo's syndrome Sotos' sequence Synonyms: Cerebral gigantism, cerebral gigantism in childhood, constitutional gigantism, gigantismus cerebralis, gigantismus constitutionalis, gigantismus idiopathicus, hypothalamic gigantism, macrostomia-mental retardation syndrome, mental retardation-overgrowth sequence, pituitary gigantism, prenatal gigantism with macrocephaly. Associated persons: S. Nevo Juan Fernandez Sotos Description: A syndrome of excessive growth during the first 4 to 5 years of life, with cerebral gigantism and generalised large muscles in childhood, acromegalic features, and a nonprogressive cerebral disorder with nonprogressive mild mental retardation and defective coordination. After early childhood growth seems to approach normal, remaining, however, two standard deviations above means for chronological age. Birth weight and length greater than normal. Other principal features are dolicocephaly, macrocrania, hypertelorism, antimongoloid palpebral slant, high-arched palate, frontal bossing, mandibular prognathism, and precocious dentition. Occasionally, obesity, convulsions, abnormal dermatoglyphic pattern. Both sexes. Most cases are sporadic but some are transmitted as an autosomal dominant trait.

95. Sotos, Syndrome De Translate this page Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/FR/sotos.html

Accès à la base de données Orphanet Sotos, syndrome de Accès direct aux détails Résumé (Nuclear receptor-binding Su-var, Enhancer of zeste and trithorax Domain protein 1); localisé en 5q35. Les mutations identifiées sont des haploinsuffisances. *Auteur : Dr S. Aymé (septembre 2002)*. Signes de la maladie AGE OSSEUX AVANCE FENTE PALPEBRALE ANTIMONGOLOIDE FRONT BOMBE/BOSSES FRONTALES FRONT HAUT GRANDE TAILLE / GIGANTISME HYPERTELORISME MACROCEPHALIE NEZ PLAT PALAIS OGIVAL/ETROIT PROGNATHISME RETARD MENTAL / PSYCHO-MOTEUR TRANSMISSION AUTOSOMIQUE DOMINANTE DENTS ERUPTION PRECOCE/DENTS NEONATALES DOLICHOCEPHALIE/SCAPHOCEPHALIE NEOPLASIE / CANCER ANOMALIE CHROM. STRUCT.EQ.DE NOVO CONVULSIONS EPILEPSIE E.E.G. ANORMAL FACE GROSSIERE OREILLE GRANDE/LONGUE/LARGE RETROGNATHISME/MICROGNATHISME STRABISME Mise à jour : 04/09/2005 Accès à la base de données Orphanet

96. Sotos Syndrome My son has been diagnosed as sotos syndrome (Cerebral Gigantism) carier. Many says sotos syndrome cariers IQ mean=72 but we see our child s seems http://neuro-www.mgh.harvard.edu/neurowebforum/ChildNeurologyArticles/11.20.967.

Sotos' Syndrome This article submitted by Edi Prabowo Soebandi on 11/20/96. Author's Email: mistpi@ibm.net My son has been diagnosed as Sotos' Syndrome (Cerebral Gigantism) carier. Examination on Fra-X has showed negative. He is now two years-old with motoric development quiet OK. Compare to other children in his group his milestone is a bit delayed but not in a severe distant. He is able to play and co-ordinate his eyes, arms, and legs. We however view that his language development is too slow and needs a special treatment.He also not able to walk yet but seems to get it soon as he is now starting to stand still with one or two steps fowards. How do we as parents be able to improve his conditions ? Many says Sotos' Syndrome cariers' IQ mean=72 but we see our child's seems better than that so we wonder how can we measure his IQ ? What is the 'best' chance of a Sotos' Syndrome carier will be, compare to normal kids ? (I have informed the 'worst' case already). Next Article Previous Article Return to Topic Menu Here is a list of responses that have been posted to this article... Early Intervention (12/12/96) 7:47 PM You now have TWO OPTIONS: Post a new Article or post a Response to this Article Click here to post a new Article!

97. The Haworth Press Online Catalog: Table Of Contents A pattern of specific motor concerns in children with sotos syndrome was revealedincluding generally delayed gross motor skills, balance and deficits and http://www.haworthpress.com/store/Toc_views.asp?TOCName=J006v06n01_TOC&desc=Volu

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