Confirmation of existence of a new syndrome: LAPS syndrome

Noralane M. Lindor; Jan L. Kasperbauer; Alan D. Hoffman; Joseph E. Parisi; Hongwei Wang; Matthew Warman

doi:10.1002/ajmg.10316

Confirmation of existence of a new syndrome: LAPS syndrome

Noralane M. Lindor, Jan L. Kasperbauer, Alan D. Hoffman, Joseph E. Parisi, Hongwei Wang, Matthew Warman

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14 Scopus citations

Abstract

In 1998, 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.

Original language	English (US)
Pages (from-to)	93-99
Number of pages	7
Journal	American journal of medical genetics
Volume	109
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.10316
State	Published - Apr 22 2002

Keywords

Fibrosis
Pericardium
Short stature
Tracheal stenosis

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.10316

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title = "Confirmation of existence of a new syndrome: LAPS syndrome",

abstract = "In 1998, 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.",

keywords = "Fibrosis, Pericardium, Short stature, Tracheal stenosis",

author = "Lindor, {Noralane M.} and Kasperbauer, {Jan L.} and Hoffman, {Alan D.} and Parisi, {Joseph E.} and Hongwei Wang and Matthew Warman",

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T1 - Confirmation of existence of a new syndrome

T2 - LAPS syndrome

AU - Lindor, Noralane M.

AU - Kasperbauer, Jan L.

AU - Hoffman, Alan D.

AU - Parisi, Joseph E.

AU - Wang, Hongwei

AU - Warman, Matthew

PY - 2002/4/22

Y1 - 2002/4/22

N2 - In 1998, 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.

AB - In 1998, 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.

KW - Fibrosis

KW - Pericardium

KW - Short stature

KW - Tracheal stenosis

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EP - 99

JO - American journal of medical genetics

JF - American journal of medical genetics

IS - 2

ER -

Confirmation of existence of a new syndrome: LAPS syndrome

Abstract

Keywords

ASJC Scopus subject areas

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