21. Sotos Syndrome Articles, Support Groups, And Resources sotos syndrome articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). sotos syndrome. http://www.medhelp.org/HealthTopics/Sotos_Syndrome.html

[Health Topics A-Z] A B C D ... Z Sotos Syndrome Support Groups: Sotos Syndrome Support Association [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

22. Sotos Syndrome Support Association sotos syndrome Support Association. International network. Founded 1984. Providesinformation and mutual support for families of children with sotos syndrome. http://www.medhelp.org/amshc/amshc571.htm

Title: PRISMS (Parents and Researchers Interested in Smith-Magenis) Description: Parent-to-parent program offering support, advocacy and education for families affected by Smith-Magenis syndrome. Information and referrals, literature, phone support, newsletter. Dues $20. Scope: International Founded: Address: 76 S. NeBoston Rd. Francestown, New Hampshire, 03043-3511 United States Telephone: Email: cbessette@top.monad.net Web Address: http://www.kumc.edu/gec/support/smith-ma.html This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to ed@selfhelpgroups.org Updated: 02/2003

23. A Write Shop, Editing & Publishing Company. $9.95. Cerebral Gigantism. sotos syndrome. A chapter is included with thelatest information on sotos syndrome, also known as Cerebral Gigantism. http://www.awriteshop.com/sotossyndrome.htm

Sandy's Story Available in E-Book format only. Download Adobe Acrobat Reader Click here for information about E-Book Reader. Cerebral Gigantism Sotos Syndrome Learn how a young mother struggles to get the appropriate medical, educational and social needs for her child in the late 60’s and early 70’s. Discover how she contends with family, friends and strangers for acceptance of her disabled daughter. Find out how Sandy’s untimely death was due to malpractice because she was disabled. Experience how Sandy’s life and death teaches her mother of the need for reform in the medical, educational and social fields in dealing with disabled children and their families. Realize how Sandy’s mother vows, after her daughter’s death, to spend the remainder of her life improving the lives of disabled individuals.

24. Sotos Syndrome Survey Analysis; Walter Gilbert sotos syndrome Survey Analysis. Various Statistics. However, I believe the resultsgive a general indication of some of the problems accompanying sotos syndrome. http://www.otal.umd.edu/~walt/sotos/web1.htm

Sotos Syndrome Survey Analysis Various Statistics Walter Gilbert Return to the main page. Number of females Number of males Total individuals Total number of families - - (One familiy has twins) Vision problems Count Percent * Normal * Some problem * Serious problem Comments Tooth problems Count Percent * Yes * No Comments Foot and walking problems Count Percent * Yes * No Comments Nose bleeds Count Percent * Normal * Problem Comments Tantrums Count Percent * Normal * Some Problem * Serious Problem Comments Other medical problems Ear infections Count Percent * Reported * Not reported Comments Upper respiratory problems Count Percent * Reported * Not reported Sleep Count Percent * Normal * Problem Comments Allegeries Count Percent * Yes * No Comments Bowel movement problems Count Percent * Normal * Some Problem * Serious Problem Comments Behavior Count Percent * Normal * Problem Comments Siblings * Ave. # children in family * # of families with twins * 1-child families * 2-child families * 3-child families * 4-child families * 5-child families * 6-child families * 7-child families Diagnosis Count Percent * Sotos * Sotos-like * Other More Sotos in family?

25. Sotos Syndrome Survey Analysis; Heights Of Sotos Children; Walter Gilbert Note For simplicity and clarity of writing, I will refer to the children(and the few adults) diagnosed with sotos syndrome as Sotos children. http://www.otal.umd.edu/~walt/sotos/sotos_growth_charts.htm

Height of Sotos Children Walter Gilbert Return to the main page. Note: For simplicity and clarity of writing, I will refer to the children (and the few adults) diagnosed with Sotos syndrome as Sotos children Comparing the heights of Sotos children with national norms is difficult given that responses to the survey come from all over the world. Therefore, the charts, below, reflect only children born in the United States and assumed (from eye and hair color) to be caucasian. Hopefully, this restricted sample will be representative of all Sotos children. In the following charts, each red dot represents the [current] age and height of a Sotos child from the survey. The green line represents the U.S. average height vs. age (the 50th percentile), the blue line represents the 75th percentile, and the black line the 95 percentile. That is, the height of 95% of U.S. caucasian children will be at or below this black line for a given age. It is easy to see that almost all of the the Sotos children are above the 95th percentile line; often well above it. However, as seems to be characteristic of Sotos syndrome, nothing is consistent: there are several children of average height for their age. Height data taken from the Third National Health and Nutrition Examination Survey , (NHANES III), 1988-94, conducted by the National Center for Health Statistics (NCHS) of the Centers for Disease Control and Prevention (CDC).

26. A Gene As A Major Cause Of Sotos Syndrome Has Been Identified A Gene as a Major Cause of sotos syndrome has been Identified. Imaizumi K et al. Haploinsufficiencyof NSD1 causes sotos syndrome. Nat Gen 30365366, 2002. http://www.gghjournal.com/volume18/18-4/articles/hall.gene.htm

H ome s earch ... nnouncements V olume 18, I ssue 4, D ecember T able of Contents 18-4 A Gene as a Major Cause of Sotos Syndrome has been Identified Imaizumi K et al. Sotos syndrome associated with a de novo balanced reciprocal translocation t( Am J Med Genet Kurotaki N et al. Haploinsufficiency of causes Sotos syndrome. Nat Gen A bstract Sotos syndrome is a relatively common neurologic disorder characterized by prenatal and postnatal overgrowth, advanced bone maturation, large skull with acromegalic features, and significant developmental delay. Most cases are sporadic, but autosomal dominant inheritance has been suggested in some instances and autosomal inheritance in a few rare instances. Reports of balanced translocations have pointed to several chromosomal sites as the location of a gene responsible for the syndrome. One of these has led to the identification of mutations of a nuclear hormone receptor cofactor as a major cause of this syndrome.

27. A Gene As A Major Cause Of Sotos Syndrome Has Been Identified A Gene as a Major Cause of sotos syndrome has been Identified. The group next analyzedDNA from 38 patients with the clinical diagnosis of sotos syndrome. http://www.gghjournal.com/volume18/18-4/pf/pfhall.sotos.htm

www.gghjournal.com Return to original format A Gene as a Major Cause of Sotos Syndrome has been Identified Judith G. Hall, OC, MD Volume 18, Issue 4, 2002 © 2002 Prime Health Consultants, Inc. Sotos syndrome is a relatively common neurologic disorder characterized by prenatal and postnatal overgrowth, advanced bone maturation, large skull with acromegalic features, and significant developmental delay. Most cases are sporadic, but autosomal dominant inheritance has been suggested in some instances and autosomal inheritance in a few rare instances. Reports of balanced translocations have pointed to several chromosomal sites as the location of a gene responsible for the syndrome. One of these has led to the identification of mutations of a nuclear hormone receptor cofactor as a major cause of this syndrome. Kurotaki et al analyzed DNA from a patient with a de novo translocation 46 ,XX,t (5;8)(q35;q24.1) that had been reported previously by

28. Health Library - Sotos Syndrome sotos syndrome. sotos syndrome is a rare genetic disorder characterized by excessivegrowth that occurs prior to and after birth (prenatally and postnatally). http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

29. Tobi's Links For Sotos Syndrome Tobi's Links for sotos syndrome. The sotos syndrome Support AssociationEnter What is sotos syndrome Enter sotos syndrome Enter Sotos http://www.expage.com/page/tobi12

Tobi's Links for Sotos Syndrome Sotos Syndrome Support Association of Canada Enter The Sotos Syndrome Support Association Enter What is Sotos Syndrome Enter Sotos Syndrome Enter Sotos Syndrome Enter Visit my Specific Special Needs Site Enter Visit my Homepage Enter Sign Guestbook Read Guestbook This page has been accessed times. oas_ad('Bottom');

30. Department Of Human Genetics - Clinical Laboratory And Patient Services Clinical Laboratory Services. sotos syndrome Testing. NSD1 analysis isindicated for individuals with a clinical diagnosis of sotos syndrome. http://www.genes.uchicago.edu/clinic/SotosTest.html

Clinical Laboratory Services Sotos Syndrome Testing analysis is indicated for individuals with a clinical diagnosis of Sotos syndrome. Microdeletions, identifiable by FISH analysis, and mutations of the gene have recently been identified in patients with Sotos syndrome. These preliminary findings suggest that about 77% of patients with a clinical diagnosis of Sotos syndrome have either a deletion or mutation in the gene. We offer FISH analysis for deletion detection. Mutation analysis is currently being validated for clinical use; please check back on availability. Sample specifications FISH - 5 cc of blood in a green top/sodium heparin tube Turn-around-time FISH - 12 days Cost: FISH - $325 CPT codes FISH - 88230, 88271, 88291, 88273 Please contact UCGS personnel if you wish to discuss the specifics of your case, or if you have any questions. Kurotaki et al., Haploinsufficiency of NSD1 causes Sotos syndrome (2002) Nature Genetics, 30: 365-366. Sample Submission Instructions and Paperwork General Information Sample Submission Instructions Requisition Form Billing Options and Information Form ... Return to Clinical Laboratory Services NOTE: All files are in PDF format and require Adobe Acrobat Reader to view. If you do not have Acrobat Reader

31. NORD - National Organization For Rare Disorders, Inc. sotos syndrome. To purchase fulltext report ($7.50) View Cart/Checkout. Copyright1986, 1990, 1995, 1997, 1998 Synonyms of sotos syndrome Cerebral Gigantism. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Sotos Syndrom

32. Health Library - Sotos Syndrome sotos syndrome. sotos syndrome is a rare genetic disorder characterized by excessivegrowth that occurs prior to and after birth (prenatally and postnatally). http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

33. Sotos' Syndrome only one click For Medical Professionals only. Sotos' syndrome,,Print this article, (Juan Fernandez Sotos, born 1927, Spanishborn http://www.amershamhealth.com/medcyclopaedia/Volume VII/SOTOS SYNDROME.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Sotos' syndrome, (Juan Fernandez Sotos, born 1927, Spanish-born American paediatrician), the association of mental retardation with poor motor co-ordination and behavioural problems, a large head and high birth weight, and rapid growth in height and weight. Radiologically, there is a large dolichocephalic skull, large hands and feet, and an advanced bone age. There may also be kyphoscoliosis. HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe?

34. SOTOS SYNDROME (CEREBRAL GIGANTISM) Features Listed For sotos syndrome (CEREBRAL GIGANTISM). McKusick117550. Advanced bone age/large epiphyses; Advanced tooth eruption http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1613

35. Health Library - Sotos Syndrome sotos syndrome. Self Help Clearinghouse. sotos syndrome Support Association.International network. Founded 1984.Provides http://bhagh.nhshealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29sot

36. Health Library - Sotos Syndrome sotos syndrome. Self Help Clearinghouse. sotos syndrome Support Association.International network. Founded 1984.Provides http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29s

37. Health Library sotos syndrome. sotos syndrome Support Associationsotos syndrome. SouthernCalifornia Orthopedic Institute Bulletin Board -Orthopedic. http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/_SearchResults.asp?le

38. Health Library - Sotos Syndrome Saint Luke's Health System eLibrary. sotos syndrome. Self Help Clearinghouse.sotos syndrome Support Association. International network. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

39. Health Library Survivors. sotos syndrome. sotos syndrome Support AssociationSotosSyndrome. SOWN (Supportive Older Women's Network)-Women's Issues. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/_SearchResults.asp?l

40. Family Village - Parent To Parent Discussion Board Surgery for Epilepsy (Bev Mortimer) 1/10/2003; sotos syndrome (Jenni) 1/9/2003; rett+arnoldchiari (Irmak) 12/9/2002; sotos syndrome or maybe something else http://chronus.waisman.wisc.edu/fv/discussion/messages.asp?BoardId=2

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