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         Cerebral Gigantism:     more detail

61. 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.
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62. 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
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63. 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
Multiple Congenital Anomaly/Mental Retardation Syndromes
Table of Contents
Return to Entry Page
A
B C ... Z
C
C syndrome
Caffey pseudo-Hurler syndrome

Caffey syndrome

Calabro syndrome
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64. 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
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)
  • 65. Malattie Rare E Genetiche Lettera "G"
    Translate this page Gigantisme partiel-hémihypertrophie-macrocéphalie Gigantisme type fryer ••{}* Gigantismo cerebrale•Sotos Syndromecerebral gigantism/Sotos syndrome
    http://utenti.lycos.it/fmfpc/G.htm
    HOME FORUM Site Map / Mappa del sito FMFPC's International Guest/Book ... E-mail
    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
    ultimi aggiornamenti
    Elenco malattie rare e genetiche "lettera G"
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    aggiornato 13 Marzo, 2003 Cerca nel menu aree FMFPC
    AREE FMFPC Malattie Rare Febbre Mediterranea Familiare Laboratori Diagnosi Genetica Associazioni Malati Disabilità/Handicap Categorie Medicina (Directory) Ricerche WEB (Medicina)
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    A B C D ... F - G - H I J K ...
    legenda G
    * 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]

    66. 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
    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
    Most cases are sporadic mutations. Once established inheritance is autosomal dominant. Weaver syndrome inheritance probably has some pattern of inheritance though this has not been fully determined. Pre-natal diagnosis
    Macrocephaly, large hands, long arms and excessive growth are detectable using ultrasound scanning. Genetic counselling is available for affected families.

    67. 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
    Das Sotos-Syndrom
    E-mail: info@sotossyndrom.de

    68. 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
    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.
  • 69. 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/
    SSSAC/ACESS was incorporated January 2002 to provide educational and emotional support to Canadian families of persons with Sotos syndrome and to provide a better understanding to parents, government and the public at large of Sotos syndrome (Cerebral Gigantism) through education
    Sotos Syndrome Support Association of Canada
    1944 Dumfries
    Montreal , Quebec, H3P 2R9
    Charity/business tax number : #898824917RR001
    info@sssac.com

    No Content From This Site May Be Reproduced or Publicly Reposted Without Express
    Written Permission From Sotos Syndrome Support Association of Canada
    Site Design Arriba Caribe Group

    70. 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/
    Sotos Syndrome Survey Analysis
    Walter Gilbert
    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.

    71. UKNOWFBRITISH EMBASSYFLife 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
    SUB_MENU_BG="#AFAFAF"; SUB_MENU_BGROLLCOLOR="#FFFFFF"; SUB_MENU_SEPCOLOR="#000000"; SUB_MENU_BORDERCOLOR="#737373"; February 28-Feb
    Dr Masakazu Ueda of Keio University has developed a vector for gene therapy using hepatitis B virus. As it specifically binds to liver cells, it will enhance treatment of liver disorders. (Nikkan Kogyo 28/2/03) 28-Feb
    Hitachi has developed a new data-mining method for gene expression analysis by adopting gif-thenh rules, which present findings in a prioritised manner out of huge data sets. (Nikkan Kogyo 28/2/03) 24-Feb
    Prof Masaharu Noda of the Okazaki National Research Institute has found the mechanism by which helicobacter pylori causes stomach ulcer. The bacteriafs 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
    Takeda Chemical Industry Co found a receptor, GPR40, located on the surface of a beta cell of the pancreas, which promotes the secretion of insulin. (Nikkei and Nikkan Kogyo 24/2/03).

    72. Perinnöllisyysklinikan Tietolehtiset Sekä Tilauslomake
    Sotosin oireyhtymästä Avainsanat (synonyymit) Sotos, Sotosin oireyhtymä,Sotosin syndrooma, Sotos syndrome, cerebral gigantism.
    http://www.vaestoliitto.fi/toimintayksikot/perinnollisyysklinikka/sisaltosivut/s
    Erikoislääkäri Maarit Peippo
    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.

    73. PedsSamples
    Other causes of neonatal macrosomia include maternal diabetes, Sotos Syndrome(cerebral gigantism), Weaver Syndrome and MarshallSmith Syndrome.
    http://www.medtext.net/pedssamples.html
    PEDIATRICS SAMPLE QUESTIONS
    (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
      B) EEG to detect subtle seizures
      C) Head CT scan to detect ventriculomegaly
      D) Renal ultrasound to detect Wilms tumor
      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.

    74. 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
    The TIF1 gene family
    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 (

    75. 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

    76. UNSW Embryology-OMIM Heart Search
    PRECURSOR B; NPPB *120220 COLLAGEN, TYPE VI, ALPHA1; COL6A1 *106700 TOTAL ANOMALOUSPULMONARY VENOUS RETURN; TAPVR1 *117550 cerebral gigantism *302060 BARTH
    http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/heart/OMIM-heart.htm
    UNSW Embryology
    DEVELOPMENT OF THE HEART AND CARDIOVASCULAR SYSTEM Embryology Home Page
    Select Entries from OMIM
    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.
    PHOSPHORYLASE KINASE DEFICIENCY OF HEART
    HEART BLOCK, CONGENITAL
    HEART BLOCK
    GAP JUNCTION PROTEIN, ALPHA-1, 43-KD; GJA1
    CONGENITAL HEART DISEASE
    HOLT-ORAM SYNDROME; HOS
    GLYCOGEN STORAGE DISEASE IIb
    MCKUSICK-KAUFMAN SYNDROME; MKKS
    FATTY ACID-BINDING PROTEIN 3, MUSCLE AND HEART; FABP3
    CHOANAL ATRESIA, POSTERIOR; PCA HEART, MALFORMATION OF

    77. 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
    Dr. Marc Celentana
    Assistant Professor of Psychology
    Dr. Marc Celentana
    • B.A., Franklin and Marshall College, 1992 M.A., Miami University, 1997 Ph.D., Miami University, 2000
    Research and Scholarly Interests:
    In general, Dr. Celentana’s 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.
    Publications:
    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.

    78. 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
    gigantism (cerebral) Sotos' syndrome presents in childhood with developmental delay, high forehead, large hands and feet and tall for age.
    Click here for more information...

    79. 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

    80. C Website Results :: Linkspider UK
    Agenesis@ (5); cerebral Abscess@ (4); cerebral Edema@ (4); cerebralGigantism@ (4); cerebral Palsy@ (165); Cerebrocostomandibular Syndrome
    http://www.linkspider.co.uk/Health/ConditionsandDiseases/C/
    C Websites from Linkspider UK Keyword: C Linkspider UK Directory
    C
    Search for
    Directory Tree: Top Health Conditions and Diseases : C (0) Add URL Advertise Here! Personalize Amazon ...
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