Literature DB >> 14745669

Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family.

Ali Al-Kaissi1, Chokri Ammar, Maher Ben Ben Ghachem, Azza Hammou, Farid B Chehida.   

Abstract

We report on a 3 generation study of a Tunisian family, in which eight subjects had or have features of Larsen syndrome: three siblings, two females and one male are affected with flattened facies, multiple congenital joint dislocations, and club foot deformities. Five other family members were recognised as being variably affected with the syndrome. Over the three generations, despite the characteristic facial features being the most constant clinical signs of the syndrome, none of those still living had palatal clefts, the multiple infantile deaths in this family, however, were characterised by an association with cleft palate.

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Year:  2003        PMID: 14745669     DOI: 2003/45/smw-10281

Source DB:  PubMed          Journal:  Swiss Med Wkly        ISSN: 0036-7672            Impact factor:   2.193


  4 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.  The management of knee dislocation in a child with Larsen syndrome.

Authors:  Ali Al Kaissi; Rudolf Ganger; Klaus Klaushofer; Franz Grill
Journal:  Clinics (Sao Paulo)       Date:  2011       Impact factor: 2.365

3.  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.  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

  4 in total

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