PMID: 6974512Aug 1, 1981Paper

Kartagener's syndrome: a genetic defect affecting the function of cilia

American Journal of Otolaryngology
J D Imbrie

Abstract

Kartagener's syndrome, originally described as situs inversus, bronchiectasis, and sinusitis, has recently been demonstrated to be the result of a genetic defect manifest in structural and functional abnormalities of cilia. The absence of dynein arms in the cilia of patients with Kartagener's syndrome has been found be several investigators, utilizing electron microscopy. The cilia of four siblings, two with the syndrome and two without it, were studied by this method. The siblings with Kartagener's syndrome had specific abnormalities of the cilia and the normal siblings did not. The pathophysiology of the disease is discussed and applied to the evaluation and management of patients with Kartagener's syndrome and the immotile cilia syndrome.

References

May 1, 1979·The Laryngoscope·R JahrsdoerferR F Selden
Jul 23, 1976·Science·B A Afzelius
Oct 11, 1976·JAMA : the Journal of the American Medical Association·H T Ricketts
Nov 1, 1974·Archives of Environmental Health·I AndersenD F Proctor
Jun 1, 1960·British Heart Journal·M J FITZGERALD
Apr 1, 1964·The American Journal of Cardiology·R VANPRAAGHJ D KEITH

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Citations

Apr 1, 1987·Journal of Veterinary Internal Medicine·W B MorrisonC E Farnum
Oct 31, 2002·American Journal of Respiratory and Critical Care Medicine·Estelle EscudierAndré Coste
Aug 28, 1999·Radiographics : a Review Publication of the Radiological Society of North America, Inc·K E ApplegateD Murphy
May 1, 1988·The Annals of Otology, Rhinology, and Laryngology·J J Ballenger
Jan 10, 1998·The Annals of Otology, Rhinology, and Laryngology·S HassidR Kiss
Dec 1, 1989·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·J A PerkinsP Andrade
Jan 2, 2001·Acta Oto-laryngologica·M HoffmannS Maune

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