title: Confirmation of existence of a new syndrome: LAPS syndrome.
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.
authors.affiliation: Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA. nlindor@mayo.edu
authors.forename: Noralane M
authors.initials: NM
authors.lastname: Lindor
authors.forename: Jan L
authors.initials: JL
authors.lastname: Kasperbauer
authors.forename: Alan D
authors.initials: AD
authors.lastname: Hoffman
authors.forename: Joseph E
authors.initials: JE
authors.lastname: Parisi
authors.forename: Hongwei
authors.initials: H
authors.lastname: Wang
authors.forename: Matthew
authors.initials: M
authors.lastname: Warman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D005260:Female; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D007592:Joint Diseases / Q000473:pathology*; D007621:Karyotyping; D007829:Laryngostenosis / Q000473:pathology*; D011378:Prognathism / Q000473:pathology*; D013577:Syndrome; D014135:Tracheal Stenosis / Q000473:pathology*