Literature DB >> 3172146

A further patient with the lethal type of Larsen syndrome.

J Clayton-Smith1, D Donnai.   

Abstract

We present a female infant with multiple joint dislocations, flat facies, cleft soft palate, redundant neck skin, pulmonary hypoplasia, and skeletal abnormalities.

Entities:  

Mesh：

Year:  1988        PMID： 3172146      PMCID： PMC1050530          DOI： 10.1136/jmg.25.7.499

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  1 in total

1.  Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies.

Authors:  R J Latta; C B Graham; J Aase; S M Scham; D W Smith
Journal:  J Pediatr       Date:  1971-02       Impact factor: 4.406
  1 in total
  4 in total

1.  Larsen syndrome--lethal variety.

Authors:  M L Kulkarni; Zaheeruddin Mohammed; Preethi M Kulkarni
Journal:  Indian J Pediatr       Date:  2005-12       Impact factor: 1.967

2.  Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.

Authors:  J Bonaventure; C Lasselin; J Mellier; L Cohen-Solal; P Maroteaux
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

3.  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

4.  Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome.

Authors:  G Pierquin; N Van Regemorter; C Fourneau; J Bormans; M Foerster; E Damis; N Cremer-Perlmutter; C M Lapiere; E Vamos
Journal:  Hum Genet       Date:  1991-09       Impact factor: 4.132
  4 in total

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