Zusammenfassung

Autosomal-dominantes, zu 60% als Neumutation auftretendes faciales Dysmorphiesyndrom (Häufigkeit 1:8000–10000). Als häufigste Anomalien sind zu nennen:
  • antimongoloide Lidachse und Lidkolobome

  • Kiefer- und Ohrdysplasien mit Gehörgangs- und Gehördefekten.

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Literatur

  1. 1.
    Divelear VM, Sircar BN (1965) Anesthetic management in Treacher Collins syndrome. Anesthesiology 44: 247Google Scholar
  2. 2.
    Fraser FC, Ling D, Clogg D, Nogrady B (1978) Genetic aspects of the BOR syndrome-bronchiale fistulas, ear pits, hearing loss, and renal anomalies. Am J Med Genet 2: 241PubMedCrossRefGoogle Scholar
  3. 3.
    Herrmann J et al. (1975) The Stickler syndrome (hereditary arthroophtalmopathy). Birth Defects 11: 76PubMedGoogle Scholar
  4. 4.
    MacLennan FM, Robertson GS (1981) Ketamine for induction and intubation in Treacher Collins syndrome. Anaesthesia 36: 196PubMedCrossRefGoogle Scholar
  5. 5.
    Rasch DK, Browder F, Bait M, Greer D (1986) Anaesthesia for Treacher Collins and Pierre Robin syndromes: a report of three cases. Can Anaesth Soc J 33: 364PubMedCrossRefGoogle Scholar
  6. 6.
    Rimoin DL, Edgerton MT (1967) Genetic and clinical heterogenity in the oral-facial-digital syndromes. J Pediatr 71: 94PubMedCrossRefGoogle Scholar
  7. 7.
    Rogers BO (1964) Berry-Treacher Collins syndrome: a review of 200 cases. Brit J Plast Surg 17: 109PubMedCrossRefGoogle Scholar
  8. 8.
    Shprintzen RJ, Goldberg RB, Young D, Wolford L (1981) The velo-cardio-facial syndrome: A clinical and genetic analysis. Pediatrics 67: 167PubMedGoogle Scholar
  9. 9.
    Smith DW (1982) Recognizable patterns of human malformation. WB Saunders, Philadelphia London Toronto, 3rd edition, p 202Google Scholar
  10. 10.
    Townes PL, Brocks ER (1972) Hereditary syndrome of imperforate anus with hand, foot and ear anomalies. J Pediatr 81: 321PubMedCrossRefGoogle Scholar
  11. 1.
    Brinsfied DE, Plauth WH Jr (1978) Clinical recognition and medical management of congenital heart disease. In: Hurst JW, Logue RB, Schland RC et al. The Heart. McGraw-Hill, New YorkGoogle Scholar
  12. 2.
    Katz J, Steward DJ (1987) Anesthesia and Uncommon Pediatric Diseases. WB Saunders, Philadelphia London Toronto, p 273Google Scholar
  13. 3.
    Moffitt EA, McGoon DC, Ritter DG (1970) The diagnosis and correction of congenital cardiac defects. Anesthesiology 33: 144CrossRefGoogle Scholar
  14. 4.
    Polychronakos C, Letarte J, Collu R, Ducharme JR (1980) Carbohydrate intolerance in children and adolescents with Turner syndrome. J Pediatr 96:1009PubMedCrossRefGoogle Scholar
  15. 5.
    Strader WJ III, Wachtel HL, Landberg Jr GD (1971) Hypertension and aortic rupture in gonadal dysgenesis. J Pediatr 79: 473PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • Manfred Abel
    • 1
  1. 1.Anästhesie-AbteilungKinderkrankenhaus der Stadt KölnKöln 60Deutschland

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