Multiple congenital dislocations associated with characteristics facial abnormality

Larsen, Loren J.; Schottstaedt, Edwin R.; Bost, F.

doi:10.1016/s0022-3476(50)80268-8

Cited by 254 publications

(155 citation statements)

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“…Spatulate fingers were described in all cases of the initial paper by Larsen et al [16] and in 19 of 20 cases (95%) of Larsen syndrome with FLNB mutations reported by Bicknell et al [3]. Another hand anomaly, an accessory distal thumb phalanx, recently was reported in a patient with Larsen syndrome and a specific mutation in FLNB, but outside the calponin homology domain, causing the amino acid substitution G1691S [1].…”

Section: Discussionmentioning

confidence: 91%

“…In 1950, Larsen et al [16] described multiple congenital large joint dislocations with facial abnormalities in six genetically independent patients. Many sporadic cases have been described in addition to an autosomal-dominant form [17,24,25].…”

Section: Discussionmentioning

confidence: 99%

“…Larsen syndrome (OMIM 150250) was first described in 1950 as the combination of multiple joint dislocations and characteristic craniofacial abnormalities [16]. The incidence is estimated to be one in 100,000 live births with many cases now having an identifiable genetic etiology [27].…”

Section: Introductionmentioning

confidence: 99%

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Congenital Knee Dislocation in a Patient with Larsen Syndrome and a Novel Filamin B Mutation

Dobbs

Boehm²,

Grange³

et al. 2008

Clinical Orthopaedics &Amp; Related Research

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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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Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Congenital Knee Dislocation in a Patient with Larsen Syndrome and a Novel Filamin B Mutation

Dobbs

Boehm²,

Grange³

et al. 2008

Clinical Orthopaedics &Amp; Related Research

View full text Add to dashboard Cite

show abstract

“…Larsen syndrome is a congenital disorder, which consists of a skeletal dysplasia with multiple joint dislocations and a characteristic face [1]. The basis of the abnormalities is considered to be a generalized mesenchymal disorder involving connective tissues [2].…”

Section: To the Editormentioning

confidence: 99%

Pneumoperitoneum in a patient with Larsen syndrome

2013

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“…The association of multiple congenital joint dislocations with characteristic facies is known as Larsen syndrome (Larsen, Schottstaedt, and Bost, 1950 (Lee, 1973).…”

Section: Larsen Syndrome In Two Generationsmentioning

confidence: 99%