Literature DB >> 10735637

Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus.

R Becker1, R D Wegner, J Kunze, S Runkel, M Vogel, M Entezami.   

Abstract

Larsen syndrome shows a broad spectrum of clinical manifestation ranging from a lethal form of the disorder to a mild clinical expression with absence of major diagnostic features. Here we show that even intrafamilial manifestation may vary extremely to the point that Larsen syndrome in a father has been diagnosed only by typical sonographic features in an affected fetus.

Mesh:

Year:  2000        PMID: 10735637     DOI: 10.1034/j.1399-0004.2000.570210.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Antenatal diagnosis of Larsen syndrome.

Authors:  M L Kulkarni; Mohamed Haseen Basha; Sudhakar Hegade; Thiyagaraj A Kumarasamy; Akhil M Kulkarni
Journal:  Indian J Pediatr       Date:  2010-07       Impact factor: 1.967

2.  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

3.  Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene.

Authors:  N Winer; F Kyndt; A Paumier; A David; B Isidor; M Quentin; B Jouitteau; P Sanyas; H J Philippe; A Hernandez; D Krakow; C Le Caignec
Journal:  Prenat Diagn       Date:  2009-02       Impact factor: 3.050

4.  One Stage Bilateral Total Hip Arthroplasty in Siblings with Larsen Syndrome.

Authors:  Christian Merle; Wenzel Waldstein; Joseph D Lipman; Maximilian F Kasparek; Friedrich Boettner
Journal:  Open Orthop J       Date:  2016-11-30
  4 in total

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