Confirmation of existence of a new syndrome: LAPS syndrome.
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.
Lindor
Noralane M
NM
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA. nlindor@mayo.edu
Kasperbauer
Jan L
JL
Hoffman
Alan D
AD
Parisi
Joseph E
JE
Wang
Hongwei
H
Warman
Matthew
M
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*