Literature DB >> 7526939

Larsen syndrome in siblings with consanguineous parents.

J M Topley1, E Varady, G G Lestringant.   

Abstract

Two siblings with Larsen syndrome and consanguineous parents are described, both with multiple joint dislocations and the typical facial appearance. Short stature is marked in both children and one had a diaphragmatic hernia which has not been previously described in this condition.

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Mesh：

Year:  1994        PMID： 7526939

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  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.  GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

Authors:  Nisha Patel; Hanan E Shamseldin; Nadia Sakati; Arif O Khan; Ameen Softa; Fatima M Al-Fadhli; Mais Hashem; Firdous M Abdulwahab; Tarfa Alshidi; Rana Alomar; Eman Alobeid; Salma M Wakil; Dilek Colak; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2017-05-04       Impact factor: 11.025
  2 in total

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