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Am J Med Genet. 2002 Apr 22;109(2):93-9.

Confirmation of existence of a new syndrome: LAPS syndrome.

Author information

1
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA. nlindor@mayo.edu

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.

PMID:
11977156
DOI:
10.1002/ajmg.10316
[Indexed for MEDLINE]

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