Literature DB >> 2029067

Ossicular abnormality in Larsen's syndrome: a case report.

R W Maack1, H R Muntz.   

Abstract

Larsen's syndrome consists of a skeletal dysplasia with multiple joint abnormalities and a characteristic facies. No reports of this syndrome have documented hearing loss due to ossicular joint abnormalities. A 6-year-old girl is presented with the characteristic abnormalities of Larsen's syndrome, a normal otoscopic examination, and significant bilateral conductive hearing loss. Exploratory tympanotomy demonstrated an incudostapedial joint abnormality, as well as a fixed stapes footplate. The possibility of ossicular joint abnormalities, in addition to the other joint abnormalities associated with this syndrome, must be considered.

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Year:  1991        PMID: 2029067     DOI: 10.1016/0196-0709(91)90073-o

Source DB:  PubMed          Journal:  Am J Otolaryngol        ISSN: 0196-0709            Impact factor:   1.808


  2 in total

1.  A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Authors:  Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen Firth; Mohammad Hassan Karimi-Nejad; Chong Ae Kim; Kathryn Leask; Melissa Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; Thomy de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; L C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
Journal:  J Med Genet       Date:  2006-06-26       Impact factor: 6.318

2.  Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.

Authors:  Katta Mohan Girisha; Abdul Mueed Bidchol; Luitgard Graul-Neumann; Ashish Gupta; Ute Hehr; Davor Lessel; Sean Nader; Hitesh Shah; Julia Wickert; Kerstin Kutsche
Journal:  BMC Med Genet       Date:  2016-04-06       Impact factor: 2.103

  2 in total

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