PROGRESSIVE LARYNGOTRACHEAL STENOSIS WITH SHORT STATURE AND ARTHROPATHY

Laryngotracheal stenosis is rare in adults, especially in the absence of a malignancy. It is most commonly caused by fibrosis following endo tracheal intubation or tracheal trauma. Other conditions causing progr essive airway narrowing include the mucopolysaccharidoses and autoimmu ne disorders. With the exception of storage diseases, there are no wel l-defined genetic disorders with progressive airway narrowing as a com mon complication. We have evaluated three unrelated individuals with t his potentially life-threatening finding, all of whom have a previousl y unrecognized condition, Each patient had short stature and joint sti ffness with no evidence for infectious, inflammatory, or metabolic dis eases as a cause of their condition. None of our patients had clinical findings indicative of known skeletal dysplasias or storage diseases. They had minor facial anomalies which included deeply set eyes, bushy eyebrows, and flat midface, Given the unique findings of our patients including adult onset critical tracheal stenosis, short stature, prog ressive joint limitation, and distinct facial anomalies, we conclude t hat they have a previously undescribed condition. (C) 1998 Wiley-Liss, Inc.