SURF SOLUTIONS : Hot Sites Of The Week Sotos syndrome and to provide a better understanding to parents, government andthe public at large of Sotos syndrome (cerebral gigantism) through education. http://www.kolumbus.fi/tomppas/service/hotsites.htm
Extractions: If your site is listed, click here for award info. Hot Sites of the Week - March 31 April 1-6/ Private Ivy JewishCafe.com JewishCafe.com is a comfortable, relaxed virtual Cafe, in which single, divorced, and widowed can meet interesting and interested people in a flourishing singles community. Whether you're looking for a companion, a date, or a soul mate, JewishCafe.com is the place for you! Warm, romantic, inviting.... Dolphin Bay Surf Tour Operator - Surf Tour Operator, Eastern Cape, South Africa. The Jolly Boys Th e Jolly Boys are the foremost performers of Mento, the ribald, witty first cousin of Jamaican reggae. Like reggae, Mento is marked by a shuffling, syncopated guitar strum, an irreverent attitude, and a lazy, swaying danceability. Unlike reggae, Mento has no sacramental roots, nor does it strain after profundity. Fame Production.biz
AnsMe Directory - Health > Conditions And Diseases > C Cerebellar Vermis Agenesis. Cerebral Abscess. Cerebral Edema. cerebral gigantism.Cerebral Palsy. Cerebrocostomandibular Syndrome. Cerebrohepatorenal Syndrome. http://dir.ansme.com/health/43345.html
Syndrome DB - Table Of Contents CPD IV) cerebellotrigeminal and focal dermal dysplasia cerebellotrigeminaldermaldysplasia cerebellotrigeminodermal dysplasia cerebral gigantism cerebral GM1 http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_c.html
New Page 0 excretion). (5) Sotos syndrome (cerebral gigantism) autosomal dominantovergrowth ( 97th %ile) characterized by macrocrania, large. hands http://www.bol.ucla.edu/~ofattal/Tallstatureevaluation.htm
Extractions: TALL STATURE Home Etiologies a. Familial tall stature (parents and other close relatives are tall) b. Exogenous obesity (tall during early years, but do not typically end up tall) c Endocrinological cause (1) Sexual precocity (again tall early on if untreated, but end up short if either (2) Hyperthyroidism (grow rapidly prior to institution of treatment and then, with establishment of euthyroidism, grow slowly returning to genetic height channel; may actually lose height potential if hyperthyroid for substantial period of time) (3) Gigantism (GH excess secondary to pituitary tumor - very rare) (4) Males with either estrogen deficiency (aromatase deficiency) or estrogen receptor deficiency (implies that estrogen action is more important than androgen action insofar as ultimate fusion of epiphyses is concerned) d. Genetic disorders roduction by Leydig cells and infertility with seminiferous tubules (bulk of testes) replaced by hyalinization and fibrosis; and gynecomastia] (2) Marfan syndrome (arachnodactyly, joint laxity, scoliosis, upward lens dislocation, and aortic dilatation and aneurysm)
Malattie Rare E Genetiche Lettera "G" Translate this page Gigantisme partiel-hémihypertrophie-macrocéphalie Gigantisme type fryer {}* Gigantismo cerebraleSotos Syndromecerebral gigantism/Sotos syndrome http://utenti.lycos.it/fmfpc/G.htm
Extractions: Dal 22 Marzo 2003 il server Lycos, che ospita le pagine FMFPC, subirà un *fermo tecnico*. Le pagine resteranno accessibili ma non verranno aggiornate per circa una settimana. - Tutti i servizi di FMFPC continueranno a funzionare. - È ora possibile accedere al sito anche attraverso l'indirizzo alternativo di FMFPC (sito mirror) all'URL http://digilander.libero.it/fmfpc/portale.htm * G Sindrome[Sindrome oculogenitolaringea/ OPITZ SINDROME DI G syndrome[Opitz-Frias syndrome/autosomal dominant Opitz syndrome (ADOS)/BBB syndrome/BBBG syndrome/BBB G syndrome/BBG syndrome/G BBB syndrome/hypospadias-dysphagia syndrome/hypertelorism-hypospadias syndrome/oculo-genito-laryngeal syndrome/telecanthus-hypospadias syndrome/X-linked Opitz syndrome (XLOS)] Hiperterorim with Esophageal Abnormality and Hipospadia G syndrome[Hypospadias-dysphagie, syndrome/Syndrome d'Opitz-Frias]
The Contact A Family Directory - SOTOS SYNDROME Sotos syndrome cerebral gigantism in childhood. In this rare syndromebabies are generally significantly larger and heavier than http://www.cafamily.org.uk/Direct/s36.html
Extractions: printer friendly SOTOS SYNDROME home more about us in your area conditions information ... how you can help search this site Sotos syndrome: cerebral gigantism in childhood In this rare syndrome babies are generally significantly larger and heavier than average caused by excessive pre-natal 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
Das Sotos-Syndrom cerebral gigantism in Childhood im New England Journal of Medicine schilderte er dieses Syndrom, das auch zerebraler Gigantismus genannt http://www.sotossyndrom.de/synd.htm
LARGE HEADS cerebral gigantism; Aminoacidurias; Tay Sachs; Leukodystophies; Mucopolysaccharidosis.References Dias MS and Li V. Pediatric Neurosurgical Disease. http://pedclerk.bsd.uchicago.edu/largeHeads.html
Extractions: Large Heads (Macrocephaly) The average head circumference at birth is 33-35 cm and grows about 2 cm per month. Head circumferences should be measured at each visit and plotted on a growth chart. Although head size often follows body growth, small infants may have large heads and vice versa. It is not unusual for the head circumference to cross percentiles during the first year of life, but if the infant has a large head, other family membersí heads should be measured and plotted and a full developmental assessment and examination should be performed. Large heads are often a familial feature. The posterior fontanel usually closes at 6-8 weeks of life and the anterior fontanel between 12-18 months. Evaluation History Developmental assessment Symptoms of increased intracranial pressure-lethargy, poor feeding, irritability, vomiting History of trauma, prematurity, infections. Family history of neurologic disorders Physical examination findings split sutures and bulging anterior fontanel prominent veins setting sun eyes Abnormal tone and increased DTRs thorough skin inspection including evaluation for midline spinal lesions.
Sotos Syndrome Support Group Of Canada Sotos syndrome and to provide a better understanding to parents, government andthe public at large of Sotos syndrome (cerebral gigantism) through education, http://www.sssac.com/
Sotos Syndrome Survey Analysis; Walter Gilbert years of life. It is also called cerebral gigantism because of the distinctiveshape and size of the head. Unfortunately, this rapid http://walter.gilbert.name/sotos/
Extractions: Background Sotos Syndrome is a rare genetic condition marked by rapid physical growth which begins before birth and extends thru the first years of life. It is also called cerebral gigantism because of the distinctive shape and size of the head. Unfortunately, this rapid physical development is usually accompanied by delayed motor, cognitive and social development. Muscle tone is low and speech is significantly impaired. See more information at: Sotos syndrome: What is it? Also unfortunately, while Sotos syndrome is classified as a genetic condition, there is no genetic test which can confirm a diagnosis. There is a very active, international community of parents of children who have been diagnosed as having classic Sotos or being Sotos-like . It is centered around an e-mail list; current and archived messages are available at http://groups.yahoo.com/group/Sotosyndrome/ Analyses Having belonged to the Sotos e-mail list for about a year, it became apparent to me that many of the affected children shared traits and symptoms as diverse as eye color, dental problems, and bowel movement abnormalities. Therefore, in November, 2000, I developed a 40-question survey which was e-mailed to the Sotos list. To date [May, 2001], I have received just over 60 responses. I have entered these into a large spreadsheet and have done some analysis which will be presented here. These web pages will likely change often as new responses are received and more analysis is conducted.
UKNOWFBRITISH EMBASSYFLife Sciences 31Oct Prof Norio Shinkawa of Nagasaku University, School of Medicine found thatthe cause of cerebral gigantism is a single gene deletion by conducting http://www.uknow.or.jp/be_e/science/science_news/CG000003.htm
Extractions: Prof Masaharu Noda of the Okazaki National Research Institute has found the mechanism by which helicobacter pylori causes stomach ulcer. The bacteriafs toxin bind itself to a protein on the cell surface, which transmits the wrong signals, causing the removal of the mucous membrane. (Nikkei 24/2/03) 24-Feb The National Cancer Centre in collaboration with Olympus Optical and Tokyo Institute of Technology, has developed a new type of endoscope, equipped on the top edge with a filter, which passes only blue short waves. It enables the detection of early stage cancer cells at a 20 times higher rate. (Nikkei 24/2/03) 24-Feb
Extractions: Väestöliiton perinnöllisyysklinikka 2002 Sotosin oireyhtymästä Avainsanat (synonyymit): Sotos, Sotosin oireyhtymä, Sotosin syndrooma, Sotos syndrome, cerebral gigantism Sotosin oireyhtymälle hyvin tyypillisiä ulkonäköpiirteitä ovat kupera, leveä ja korkea otsa, pitkänomainen kallon muoto, pitkä ja kärkeensä kapeneva leuka, ylöskaartuvat kulmakarvat ja hiukan alaspäin suuntautuvat luomiraot. Hiusraja on tavallista ylempänä ja nuorempana tukka on etenkin ohimoseudussa harvaa ja heikkokasvuista. Nenän, leuan ja poskien ihopunotus yleistä. Sotosin oireyhtymässä kasvu on nopeinta varhaislapsuudessa. Kasvulle ominaista on vartaloon nähden suhteellisesti pitkät raajat ja pituuteen nähden usein isot kämmenet ja jalkaterät. Vaikka lopullinenkin pituus on usein keskimääräistä suurempi ei odotettavissa kuitenkaan ole jättikasvua. Sotos tytöillä kuukautiset näyttävät tulevan hiukan keskimääräistä nuorempana kun taas Sotos-pojilla murrosikäkehitys näyttää alkavan keskimääräistä myöhemmin. Tutkittua tietoa Sotos-henkilöitten hedelmällisyydestä ei ole, harvinaisista yksittäistapauksista kertova tieto ei puhu normaaleja lapsensaantimahdollisuuksia vastaan. Sisäelinten rakennepoikkeavuudet kuten sydänviat ovat Sotosin oireyhtymässä vain vähän yleisempiä kuin väestössä keskimäärin. Varhaislapsuudessa välikorva- ja hengitystietulehdukset ovat tavallisia. Ruoansulatuselimistön tavallisia oireita ovat lisääntynyt ruokahalu ja juominen sekä ummetus. Virtsatulehduksia ja virtsan takaisinvirtausta rakosta virtsanjohtimiin (ns vesikoureteraalinen refluks, VUR) on esiintynyt noin viidenneksellä. Hoitoa vaativaa lattajalkaisuutta ja selän ryhtivirheitä voi kehittyä. Noin puolella Sotos-lapsista on epilepsiaa tai kuumekouristuksia. Nämä kohtausoireet eivät yleensä ole suuri hoito-ongelma. Silmien taittovirheet ovat tavallisia, mutta näkövammaisuus hyvin poikkeuksellista. Kuulovammaisuuskaan ei ole yleistä Sotosissa.
PedsSamples Other causes of neonatal macrosomia include maternal diabetes, Sotos Syndrome(cerebral gigantism), Weaver Syndrome and MarshallSmith Syndrome. http://www.medtext.net/pedssamples.html
Extractions: (Click here to return to order form) QUESTION 6. A 2-year-old boy is currently above the 97th percentile for length and weight. His neonatal history is significant for a birth weight of 4200 grams at 36 weeks gestation, severe hypoglycemia requiring glucocorticoid treatment, polycythemia, respiratory distress due to airway obstruction and omphalocele. In addition to routine well child care, what other screening should be done on an ongoing basis? A) Glucose tolerance test to detect early diabetes E) CBC to detect aplastic anemia ANSWER 6. D Renal ultrasound to detect Wilms tumor This child has Beckwith-Wiedemann Syndrome, which presents in the neonate with macrosomia, refractory hypoglycemia, polycythemia, macroglossia which may obstruct the airway and require surgical reduction, and omphalocele. Other characteristic findings include nevus flammeus of the forehead, large fontanels, prominent occiput and prominent metopic ridge. Because there is an increased incidence of Wilms tumor and of hepatoblastoma in these children, they require monitoring with renal ultrasounds and alpha fetoprotein throughout childhood. Other causes of neonatal macrosomia include maternal diabetes, Sotos Syndrome (cerebral gigantism), Weaver Syndrome and Marshall-Smith Syndrome. The long term prognosis of children with Beckwith-Wiedemann Syndrome is good if the early hypoglycemia is adequately treated.
Dep_VD 22). In addition, NSD1 has ben implicated in Sotos syndrome, a raregrowth disorder also known as cerebral gigantism (23). NSD2 http://www-igbmc.u-strasbg.fr/Departments/Dep_V/Dep_VD/Dep_VD3a.html
Extractions: T ranscriptional I ntermediary F actors 1) are members of a family of transcriptional regulators that play a role in controlling cell growth, differentiation and development in both mammals and Drosophila ) . Included in this family are several human proto-oncoproteins (hTIF1 and hTIF1 ) , and at least two developmental regulatory proteins (mTIF1 and dBonus) ( ) -, the TIF1 proteins have been found to be associated with chromatin ( ). Recent studies on one member of the family (mTIF1 ) have provided evidence for a dynamic nuclear distribution into the eu- versus heterochromatic compartments which is regulated during cell differentiation ( ). Several of the TIF1 family members (mTIF1 and dBonus) have been shown to possess intrinsic kinase activity ( ), whilst all of them can silence transcription when tethered to DNA through fusion to an heterologous DNA binding domain ( ). In the case of mTIF1 and mTIF1 , an epigenetic mechanism of control has been suggested by the finding of an association with members of the heterochromatin protein 1 (HP1) family ( ), a class of nonhistone chromosomal proteins with a well-established function in heterochromatin-mediated silencing. We have recently described a network of protein-protein interactions involving the HP1 proteins themselves and HP1 contacts with the core histone H3 (
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
Extractions: DEVELOPMENT OF THE HEART AND CARDIOVASCULAR SYSTEM Embryology Home Page Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Normally the blue numbers below would link to a full description of the abnormality. Back to UNSW Embryology-Heart Notes 100 entries displayed (out of 879 entries found), searching for "heart" BUNDLE BRANCH BLOCK ( Click here to see a typical entry, no external links will work from this page.
Dr. Marc Celentana Homepage 2002). A case of Sotos Syndrome (cerebral gigantism) associated withpsychosis and thought disorder. Manuscript in preparation. http://www.manhattan.edu/arts/psyc/faculty/celentana.html
Extractions: In general, Dr. Celentanas research examines the impact of traditional notions of masculinity on interpersonal relationships, and the use of constructivist psychotherapy with seriously disturbed populations. Related interests include personality assessment, leadership issues, and group dynamics. A case of Sotos Syndrome (Cerebral Gigantism) associated with psychosis and thought disorder . Manuscript in preparation. Constructions of Disorder: Meaning-Making Frameworks for Psychotherapy . Washington, D.C.: American Psychological Association Press. The Humanistic Psychologist, 25, Presentations: The body in experiential personal construct psychology. Paper presented at the 106th Annual Convention, American Psychological Association, San Francisco, CA, USA Leitner, L.M., Celentana, M.A. (1996, August). Constructivist therapy with serious disturbances.
Gigantism (cerebral) - General Practice Notebook gigantism (cerebral). Sotos' syndrome presents in childhood with developmentaldelay, high forehead, large hands and feet and tall for age. http://www.gpnotebook.co.uk/cache/745209880.htm
Ask Jeeves: Search Results For "Gigantism" html 10. NINDS Soto's Syndrome Information Page Soto's Syndrome (CerebralGigantism) information sheet compiled by NINDS. http//www http://webster.directhit.com/webster/search.aspx?qry=Gigantism
