Confirmation of existence of a new syndrome: LAPS syndrome

Am J Med Genet. 2002 Apr 22;109(2):93-9. doi: 10.1002/ajmg.10316.

Abstract

In l998, Hopkin et al. described a new disorder characterized by progressive laryngotracheal stenosis, short stature, and arthropathy. We provide extensive clinical information on two additional unrelated patients with this distinctive disorder and propose the name LAPS syndrome, to reflect the most consistently recognized features, namely, Laryngotracheal stenosis, Arthropathy, Prognathism, and Short stature.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adult
  • Female
  • Growth Disorders / pathology*
  • Humans
  • Joint Diseases / pathology*
  • Karyotyping
  • Laryngostenosis / pathology*
  • Prognathism / pathology*
  • Syndrome
  • Tracheal Stenosis / pathology*