Beschreibung Nr 1    Beschreibung Nr. 2  Beschreibung des Simpson-Golabi-Behmel-Syndrom Typ 2

Wissenschaftliche Artikel zu Simpson Golabi Behmel Syndrome

 das Weaver-Syndrom, das Beckwith-Wiedemann-Syndroms, und das Simpson-Golabi-Behmel-Syndrom oder Golabi-Rosen-Syndrom (weitere Informationen laut google sind erhältlich beim Koordinator der www.klinikschoensicht.de )

deutschsprachige Simpson-Rosen-Golabi-Behmel-Syndrom Betroffene und Angehörige sind eingeladen, sich hier zu melden: www.sotossyndrom.de

Istituto di Genetica Medica, Facolta de Medicina A. Gemelli, Universita Cattolica, Roma, Italy. ibige@rm.unicatt.it :

The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth/multiple congenital anomalies/dysplasia syndrome caused by a mutant X-linked gene. The spectrum of its clinical manifestations is broad, varying from very mild forms in carrier females to infantile lethal forms in affected males. A typically affected male will show tall stature, "coarse" face, supernumerary nipples, congenital heart defect, and generalized muscular hypotonia. Mental development is normal in most cases. There is an increased risk of neoplasia in infancy, especially Wilms tumor. The SGBS gene spans 500 kilobases in the Xq26 region and contains eight exons. It encodes an extracellular proteoglycan, designated glypican 3 (GPC3), capable of interacting with the insulin-like growth factor IGF2. At present, only deletions of various sizes have been found in a number of affected families.

aus Tumorerkrankunegn bei Kindern: Neben dem Wiedemann-Beckwith-Syndrom (WBS) disponieren noch das Simpson-Golabi-Behmel-Syndrom (SGBS) und das Perlman-Syndrom (PS) zu embryonalen Tumoren. ...

Hj Müller,
Abt. Medizinische Genetik,
Universitäts-Kinderspital beider Basel (UKBB) ,
4005 Basel
Tf: 061 685 64 33,
Fax: 061 685 60 11
email: Hansjakob.Mueller@unibas.ch

www.swiss-paediatrics.org

Simpson-Golabi-Behmel syndrom er en sjælden genetisk sygdom med X-bunden vigende ... Ved Simpson-Golabi-Behmel syndrom, type 1, som ofte er en lidt mildere ... www.csh.dk/sjaeldne_handicap/korte/Simpson-Golabi-Behmel.htm

http://www.csh.dk/om_csh/Aarsberetning_2005.htm

Argentinien: A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma