Literature DB >> 11977156

Confirmation of existence of a new syndrome: LAPS syndrome.

Noralane M Lindor1, Jan L Kasperbauer, Alan D Hoffman, Joseph E Parisi, Hongwei Wang, Matthew Warman.   

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. Copyright 2002 Wiley-Liss, Inc.

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Year:  2002        PMID: 11977156     DOI: 10.1002/ajmg.10316

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Authors:  Livia Garavelli; Ilenia Maini; Federica Baccilieri; Ivan Ivanovski; Marzia Pollazzon; Simonetta Rosato; Lorenzo Iughetti; Sheila Unger; Andrea Superti-Furga; Marco Tartaglia
Journal:  Eur J Pediatr       Date:  2016-08-25       Impact factor: 3.183

2.  Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

Authors:  Caroline Michot; Carine Le Goff; Clémentine Mahaut; Alexandra Afenjar; Alice S Brooks; Philippe M Campeau; Anne Destree; Maja Di Rocco; Dian Donnai; Raoul Hennekam; Delphine Heron; Sébastien Jacquemont; Peter Kannu; Angela E Lin; Sylvie Manouvrier-Hanu; Sahar Mansour; Sandrine Marlin; Ruth McGowan; Helen Murphy; Annick Raas-Rothschild; Marlène Rio; Marleen Simon; Irene Stolte-Dijkstra; James R Stone; Yves Sznajer; John Tolmie; Renaud Touraine; Jenneke van den Ende; Nathalie Van der Aa; Ton van Essen; Alain Verloes; Arnold Munnich; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2014-01-15       Impact factor: 4.246

  2 in total

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