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Aarskog-Syndrom

  • Dierk A. VagtsEmail author
  • Uta Emmig
  • Heike Kaltofen
  • Peter Biro
Living reference work entry
Part of the Springer Reference Medizin book series (SRM)

Zusammenfassung

Aarskog-Syndrom.

Weiterführende Literatur

  1. Aarskog D (1970) A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 77:856–861CrossRefGoogle Scholar
  2. Bolsin SN, Gillbe C (1985) Opitz-Frias syndrome. A case with potentially hazardous anaesthetic implications. Anaesthesia 40:1189–1193CrossRefGoogle Scholar
  3. Kaname T, Yanagi K, Okamoto N et al (2006) Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. Am J Med Genet A 140:1331–1332CrossRefGoogle Scholar
  4. Orrico A, Galli L, Faivre L et al (2010) Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. Am J Med Genet A 152A:313–318CrossRefGoogle Scholar
  5. Schwartz CE, Gillessen-Kaesbach G, May M et al (2000) Two novel mutations confirm FDG1 is responsible for the Aarskog syndrome. Eur J Hum Genet 8:869–874CrossRefGoogle Scholar
  6. Shalev SA, Chervinski E, Weiner E et al (2006) Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. Am J Med Genet A 140:162–165CrossRefGoogle Scholar
  7. Völter C, Martínez R, Hagen R et al (2014) Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. Eur J Pediatr 173:1373–1376CrossRefGoogle Scholar
  8. Zielinski JA, Pack LL (2008) Bilateral anterior hip dislocation in a child with Aarskog syndrome: a case report. J Pediatr Orthop 28:729–732CrossRefGoogle Scholar

Copyright information

© © Springer-Verlag GmbH Deutschland 2018

Authors and Affiliations

  • Dierk A. Vagts
    • 1
    Email author
  • Uta Emmig
    • 2
  • Heike Kaltofen
    • 3
  • Peter Biro
    • 4
  1. 1.Marienhaus Klinikum HetzelstiftNeustadt WeinstraßeDeutschland
  2. 2.Struttura operativa complessa di anestesia e rianimazione, Ospedale San BiagioDomodossolaItalien
  3. 3.Klinik für Anästhesiologie und IntensivmedizinUniversitätsklinikum FreiburgFreiburgDeutschland
  4. 4.Universitätsspital Zürich, Institut für AnästhesiologieZürichSchweiz

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