81. OMIM - SOTOS SYNDROME http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=framedSynopsis&id=117550

82. Universiteit Van Tilburg 1999). Unique case of sotos syndrome in an identical twin neuropsychologicalfindings of a three year followup. Paper presented http://www.uvt.nl/webwijs/pub.html?anr=751995

83. J Med Genet -- KOK Et Al. 36 (4): 346 EDITOR Involvement of region 3p21 of chromosome 3 in the development ofsotos syndrome is suggested by two patients who have been described. http://www.jmedgenet.com/cgi/content/full/36/4/346

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation Search PubMed for articles by: KOK, K SCHRANDER-STUMPEL, C T R M Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: Genetics J Med Genet 346-347 ( April ) Letters to the editor Breakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6) E DITOR Involvement of region 3p21 of chromosome 3 in the development of Sotos syndrome is suggested by two patients who have been described. One is a Sotos syndrome patient carrying an apparently balanced translocation t(3;6)(p21;p21). The other is a non-smoking female with Sotos syndrome who died of small cell lung cancer at 22 years of age. This type of cancer is characterised by a consistent loss of heterozygosity at 3p21.3. We were able to set up an EBV immortalised lymphoblastoid cell line from a blood sample from the patient with the t(3;6) and show by fluorescent in situ

84. ADC -- YULE 80 (5): 493 Letters to the editor. Cancer in sotos syndrome. NonHodgkin s lymphomahas also been reported in three other patients with sotos syndrome. http://adc.bmjjournals.com/cgi/content/full/archdischild;80/5/493b

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles in ADC Online Search PubMed for articles by: YULE, S M Alert me when: new articles cite this article Download to Citation Manager Arch Dis Child 493 ( May ) Letters to the editor Cancer in Sotos syndrome E DITOR We greatly enjoyed reading the article by Cole on overgrowth disorders in childhood. While the article alluded to the increased risk of malignant disease among children with Beckwith-Wiedeman syndrome (BWS) no mention was made of the increased risk of cancer in Sotos syndrome. We recently treated a 3 year old boy with Sotos syndrome for abdominal B cell lymphoblastic lymphoma (Murphy stage III) in accordance with United Kingdom children's cancer study group protocol 9002. Although his lymphoma exhibited only a partial response to standard chemotherapy, he remains disease free two years later following second look surgery and subsequent high dose treatment with autologous bone marrow rescue.

85. J Med Genet -- Abstracts: Rio Et Al. 40 (6): 436 ABSTRACT sotos syndrome is an overgrowth syndrome characterised by pre and postnatalovergrowth, macrocephaly, advanced bone age, and typical facial features. http://jmg.bmjjournals.com/cgi/content/abstract/40/6/436

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation Search PubMed for articles by: Rio, M Cormier-Daire, V Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: Genetics Journal of Medical Genetics BMJ Publishing Group SHORT REPORT Spectrum of mutations in Sotos and Weaver syndromes M Rio L Clech J Amiel L Faivre S Lyonnet M Le Merrer S Odent D Lacombe P Edery R Brauner O Raoul P Gosset M Prieur M Vekemans A Munnich L Colleaux and V Cormier-Daire Correspondence to: ABSTRACT Sotos syndrome is an overgrowth syndrome characterised by pre- and postnatal overgrowth, macrocephaly, advanced bone age, and typical facial features. Weaver syndrome is a closely related condition characterised by a distinctive craniofacial appearance, advanced carpal maturation, widened distal long bones, and camptodactyly. Haploinsufficiency of the gene has recently been reported as the major cause of Sotos syndrome while point mutations accounted for a minority of cases. We looked for

86. J Med Genet -- Abstracts: Cole And Hughes 31 (1): 20 ARTICLES. sotos syndrome a study of the diagnostic criteria and natural history. Homepage S. P Robertson and A. Bankier sotos syndrome and cutis laxa J. Med. http://jmg.bmjjournals.com/cgi/content/abstract/31/1/20

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Cole, T. R. Hughes, H. E. Alert me when: new articles cite this article Download to Citation Manager Journal of Medical Genetics, 1994, Vol 31, 20-32 ARTICLES Sotos syndrome: a study of the diagnostic criteria and natural history TR Cole and HE Hughes Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, UK. Seventy-nine patients with a provisional diagnosis of Sotos syndrome were clinically assessed, and their photographs between the ages of 1 and 6 years evaluated. These photographs, together with photographs of first degree relatives, also at ages 1 to 6 years, were reviewed by four clinical geneticists. Forty-one probands (but no first degree relatives) were identified in whom the facial gestalt was thought to be characteristic of Sotos syndrome. Comparison of anthropometric measurements, bone age, and

87. Human Protein: Q96L73 - Nuclear Receptor Binding SET Domain Containing Protein 1 HA, Kinoshita,A., Mizuguchi,T., Yoshiura Ki,K., Ohta,T., Kishino,T., Fukushima,Y.,Niikawa,N., Matsumoto,N., Haploinsufficiency of NSD1 causes sotos syndrome. http://harvester.embl.de/harvester/Q96L/Q96L73.htm

Human protein: Q96L73 - Nuclear receptor binding SET domain containing protein 1 (NR-binding SET domain containing protein) (Androgen receptor-associated coregulator 267). EMBL FORUM Length: 2696 aa , molecular weight: 296649 Da , CRC64 checksum: UniProt ensEMBL Entrez RZPD ... EBI-Hinxton-"Uniprot-Swissprot-TrEMBL" database General information Entry name Accession number Created Rel. 42, 10-OCT-2003 Sequence update Rel. 42, 10-OCT-2003 Annotation update Rel. 43, 29-MAR-2004 Description and origin of the Protein Description Nuclear receptor binding SET domain containing protein 1 (NR-binding SET domain containing protein) (Androgen receptor-associated coregulator 267). Gene name(s) NSD1 OR ARA267. Organism source Homo sapiens (Human). Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. NCBI TaxID References Wang,X., Yeh,S., Wu,G., Hsu,C.-L., Wang,L., Chang,T., Yang,Y., Guo,Y., Chang,C., Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells. J. Biol. Chem.

88. 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. 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.

89. Sotos' Syndrome - General Practice Notebook sotos syndrome. sotos syndrome presents in childhood with developmentaldelay, high forehead, large hands and feet and tall for age. http://www.gpnotebook.co.uk/cache/1167720489.htm

Sotos' syndrome Sotos' syndrome presents in childhood with developmental delay, high forehead, large hands and feet and tall for age. Click here for more information...

90. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page Version pour Impression, MALADIE sotos, syndrome de, Synonyme(s) Gigantismecérébral, CIM Q87.3, Le syndrome de sotos est une affection http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=821

91. ORPHANET® : Sotos, Syndrome De Translate this page ORPHANET. Accès à la base de données Orphanet. sotos, syndromede. Accès direct aux détails Résumé Le syndrome de sotos est 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 : 01/06/2004 Accès à la base de données Orphanet

92. En Masse Sotos (syndrome De) Translate this page sotos (syndrome de) Voir également macrocéphalie, microcéphalie, dolicocéphalie,hypothalamus, facteur de croissance, hypertélorisme, prognathisme http://www.vulgaris-medical.net/texts/sotos.htm

Sotos (syndrome de) Voir également macrocéphalie, microcéphalie, dolicocéphalie, hypothalamus, facteur de croissance, hypertélorisme, prognathisme, ventricule cérébral, syndactylie. En anglais : cerebral gigantism. Synonyme : gigantisme cérébral. Syndrome (association de signes) rare survenant chez l'enfant et se caractérisant par : Une taille supérieure à la normale à la naissance Une croissance staturopondérale (du poids et de la taille) trop rapide Des troubles endocriniens Des malformations du crâne et du visage Un retard mental variable Des convulsions Causes Il semble s'agir d'un syndrome d'origine génétique, transmis suivant le mode dominant (il suffit que l'un des deux parents porte l'anomalie génétique pour que l'enfant présente la maladie). Le mécanisme même de ce syndrome semble être en rapport avec une sécrétion anormale d'éléments habituellement fabriqués (sécrétés) par l'organisme et intervenant dans la croissance d'un individu (facteurs de croissance). Les malformations du crâne sont : Macrocéphalie : crâne anormalement développé Front large et proéminent présentant des bosses frontales saillantes Arcades sourcilières saillantes Hypertélorisme : malformation du crâne et du visage se caractérisant par un agrandissement de la petite aile du sphénoïde (os horizontal situé à l'intérieur du crâne, derrière les orbites, à sa partie moyenne), entraînant un agrandissement de la distance séparant les deux orbites contenant les yeux, et de la racine du nez.

93. Cerebral Gigantism (Sotos Syndrome). Graded Specialist (Paediatrics), INHS Dhanvantari, Port Blair. Cerebral gigantism(sotos syndrome). Medical Journal Armed Forces India. 1996 July; 52(3) 2001. http://medind.nic.in/imvw/imvw11615.html

94. Sotos' Syndrome sotos syndrome. Author s Email cadou@trenton.edu I am asking anyoneout there who knows more1information about sotos syndrome (ie. http://neuro-www.mgh.harvard.edu/neurowebforum/GeneralFeedbackArticles/SotosSynd

Sotos' Syndrome This article submitted by A Worried Cousin on 8/23/96. Author's Email: cadou@trenton.edu I am asking anyone out there who knows more1information about Sotos' Syndrome (ie. support groups for1or in France, growth and mental development expectations,1sensory-motor developement, psycho-social development, etc)1Basically, I'm interested in everything about the syndrome1and it's effects on the people and environment around them.1If *anyone* has information I would appreciate a response!1Thank you! Next Article Previous Article Return to Topic Menu Here is a list of responses that have been posted to this article... You now have TWO OPTIONS: Post a new Article or post a Response to this Article Click here to post a new Article! If you would like to post a Response to this article, fill out this form completely... Do not use slashes ("/") or colons (":") or other "special" characters in your Article title! Also, please be sure to make your Response Title something descriptive...NOT the same title as the original article.. Response Title: Author: Author Email: Response Text: Original Article: (Don't change this field!)

95. Search Results April 2004, (PubMed). Carlo W, et al. Cervical instability in sotossyndrome a case report. Spine. 2004 Apr 16; 29(7), pp. E1536 http://www.mypubmed.com/search/Search.cgi/SearchResult?Database=PubMed&IR_FreeTe

96. Redirect http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?117550

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