ArticleClinical orthopaedics and related research2008
Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation.
Article in Clinical orthopaedics and related research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 30 citations in OpenAlex.
- Congenital and Bilateral Dislocation of the Knee: Case Report and Review of Literature.Orthopedic reviews · 2022Article
- Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.Human mutation · 2017Article
- Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.BMC medical genetics · 2016Article
- One Stage Bilateral Total Hip Arthroplasty in Siblings with Larsen Syndrome.The open orthopaedics journal · 2016Article
- [Congenital dislocation of the knee (CDK)].Der Orthopade · 2012Article
- Functional outcome following quadriceps tendon lengthening in congenital dislocation of the knee, with special reference to extensor weakness.Strategies in trauma and limb reconstruction · 2009Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
We treated a patient with multiple congenital joint dislocations and facial dysmorphisms consistent with Larsen syndrome. Sequencing of the FLNB gene resulted in identification of a novel, de novo 508G>C point mutation resulting in substitution of proline for a highly conserved alanine (A170P). This mutation has not been described previously but is likely causative because this alanine is highly conserved and is located in the calponin homology domain where other mutations have been described. We also report the successful use of a minimally invasive technique in achieving initial correction of bilateral congenital knee dislocations in this patient. The technique consists of serial manipulations and castings followed by an open quadriceps tenotomy. Longer followup is needed to ensure maintenance of correction and to avoid the need for more extensive surgery, which has been the traditional treatment for congenital knee dislocation associated with Larsen syndrome.
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Registered trials
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