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         Bloch-sulzberger Syndrome:     more detail

101. Hypomelanosis Of Ito - HITS (UK) (Specific Eye Conditions Web Site)
Ectodermal Dysplasias, especially Naegeli Type; Incontinentia Pigmenti (BlochSulzbergerSyndrome); Systematized Nevus Depigmentosus; Tuberous Sclerosis;
http://www.eyeconditions.org.uk/hits.htm
SP ecific E ye C ondition S
www.eyeconditions.org.uk
Hypomelanosis of Ito Syndrome
HITS (UK) Family Support Network National Contact: Sandra Field, 33 Fernworthy Close, Torquay, Devon TQ2 7JQ
Tel:
London Contact: Terri Grant, Saskatchewan, 99 Great Cambridge Road,
Corner of Mayfair Gardens, London N17 7LN Tel: E-Mail: tgrant@hitsuk.freeserve.co.uk Website: www.e-fervour.com/hits HITS (UK) was fully established in February 2000 and we are currently in the process of becoming a registered charity. We can offer support by letter, e-mail, internet chat site with monthly "live chats", telephone and family days. We also produce a newsletter 3 times a year. The aim of HITS (UK) is to enrich the lives of children and families affected by Hypomelanosis of Ito by encouraging communication, facilitating the flow of information between families and health professionals, and generally reducing the sense of isolation patients and families may experience. We are a voluntary, not-for-profit organisation, and we are holding the first ever "Children of Ito" Family day on July 15th 2001. We hope to hold the 2nd Children of Ito Family day in July 2003, for more information please contact Terri Grant at

102. Incontinentia Pigmenti
This Web resource on incontinentia pigmenti (also known as BlochSulzbergerSyndrome) is produced by the National Institute of Neurological Disorders and
http://omni.ac.uk/browse/mesh/D007184.html
low graphics
Incontinentia Pigmenti
other: Dermatitis, Atopic Ehlers-Danlos Syndrome Epidermolysis Bullosa NINDS : incontinentia pigmenti information page This Web resource on incontinentia pigmenti (also known as Bloch-Sulzberger Syndrome) is produced by the National Institute of Neurological Disorders and Stroke (NINDS). A description of incontinentia pigmenti is provided, and available treatments, prognosis, and current research activities are all discussed. Links to related organisations are provided. This resource has a US focus. Patient Education Handout [Publication Type] Incontinentia Pigmenti
Last modified: 02 Sep 2005

103. Hereditaere Vaskulaere Netzhauterkrankungen
Bloch-Sulzbergersyndrome; Häufigkeit selten; Genetik X-chromosomal chromosomale
http://www.retinascience.de/krank_kell/heredit_vask.html
RetinaScience
aktualisiert: 20.5.2005
zum Seitenanfang
  • Synonym: Criswick-Schepens syndrome
  • Englisch: Familial exudative vitreoretinopathy (FEVR)
  • Genetik:
    • Autosomal dominant: Mutationen im FZD4-Gen oder LRP5-Gen, weitere chromosomale Genlokalisationen: EVR3
    • X-chromosomal: Mutationen im NDP-Gen
  • Symptomatik:
  • Klinischer Befund:
    • Netzhautverziehung nach temporal mit Makulaektopie
    Therapie:
  • Besonderheit:
zum Seitenanfang
Norrie Syndrom
  • Englisch: Norrie syndrome, Norrie disease
  • Genetik: X-chromosomal: Mutationen im NDP-Gen
  • Klinischer Befund:
  • Therapie:
  • Besonderheiten:
    • Eine exsudative Vitreoretinopathie oder eine Ablatio falciformis kann ebenfalls mit Mutationen im NDP-Gen assoziiert sein
    zum Seitenanfang
    Incontinentia pigmenti (Bloch-Sulzberger Syndrom)
    • Synonym: Bloch-Sulzberger Syndrom
    • Englisch: Incontinentia pigmentii, Bloch-Sulzberger syndrome
    • Genetik: X-chromosomal: chromosomale Genlokalisationen: Xp11, Xq28
    • Symptomatik:
    • Klinischer Befund:
      • Nicht selten ist der retinale Befund ungleich zwischen beiden Augen
    • Therapie:
    • Besonderheiten:
    zum Seitenanfang
    • Genetik: autosomal dominant: chromosomale Genlokalisation: VRN1
    • Genetik: autosomal rezessiv: chromosomale Genlokalisation: RNANC-Gen
    zum Seitenanfang

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