A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Bicknell, Louise S.; Farrington-Rock, Claire; Shafeghati, Yousef; Rump, Patrick; Alanay, Yasemin; Alembik, Yves; Almadani, Navid; Firth, Helen V.; Kariminejad, Mohammad Hassan; Kim, Chong; Leask, K.; Maisenbacher, Melissa; Moran, Ellen; Pappas, John; Prontera, Paolo; Ravel, Thomy de; Fryns, Jean‐Pierre; Sweeney, Elizabeth; Fryer, Alan; Unger, Sheila; Wilson, Louise C.; Lachman, Ralph S.; Rimoin, David L.; Cohn, Daniel H.; Krakow, Deborah; Robertson, Stephen P.

doi:10.1136/jmg.2006.043687

Cited by 107 publications

(131 citation statements)

References 54 publications

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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: 87%

“…Compared with five other patients with Larsen syndrome with mutations in the calponin homology domain [3], our patient had similar facial and spinal deformities but lacked the characteristic hand deformities (spatulate fingers) typically seen in this patient population (Table 1). 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].…”

Section: Discussionmentioning

confidence: 97%

“…However, the patient's unaffected mother also has the R2010C variant. A comparison was made between our patient and five other published cases of patients with Larsen syndrome [3] in terms of location of mutation in FLNB, amino acid change, and clinical features (Table 1).…”

Section: Case Reportmentioning

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: 87%

Section: Discussionmentioning

confidence: 97%

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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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“…Genetically, Larsen syndrome is primarily inherited through an autosomal dominant mode of transmission and associated with mutations in the Filamin B (FLNB) gene (8). Mapped to chromosome 3p14, Filamin B is a cytoskeletal protein that plays an important role in actin polymerization and signal transduction pathways that help control and guide proper skeletal development (9).…”

Section: Abstract: Carpal Bones; Larsen Syndrome; Supernumerarymentioning

confidence: 99%

“…It may also manifest with several hand anomalies, which may be of relevance to the hand surgeon. These include long cylindricalshaped fingers, spatula-shaped thumbs, short metacarpals and supernumerary carpal bones (8). Cervical kyphosis is the most serious manifestation of Larsen syndrome, predisposing patients to potentially life-threatening paralysis.…”

mentioning

confidence: 99%

Supernumerary Carpal Bones in Larsen Syndrome: A Review of the Literature and Case Study

Govshievich

Shararah²,

Aldekhayel³

et al. 2015

Plastic Surgery Case Studies

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Larsen syndrome is a rare congenital disorder commonly associated with dysmorphic facies, large joint dislocations, equinovarus or equinovalgus foot deformities, and various hand anomalies, including supernumerary carpal bones. The authors present a case of Larsen syndrome with bilateral supernumerary carpal bones as the sole clinical manifestation. A literature review investigating skeletal anomalies in patients with Larsen syndrome was performed and revealed that the present case represents a unique presentation of this disorder, lacking all of the major clinical features previously described in the literature. An approach to patients with supernumerary carpal bones is discussed.

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Airway malacia in children with achondroplasia

Dessoffy

Modaff

Pauli

2013

American J of Med Genetics Pt A

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This study was undertaken to assess the frequency of airway malacia in infants and young children with achondroplasia, a population well known to be at risk for a variety of respiratory problems. We also wished to evaluate what, if any, contribution airway malacia makes to the complex respiratory issues that may be present in those with achondroplasia. Retrospective chart review of all infants and young children with achondroplasia who were assessed through the Midwest Regional Bone Dysplasia Clinics from 1985 through 2012 (n = 236) was completed. Records of comprehensive clinical examinations, polysomnographic assessments, and airway visualization were reviewed and abstracted using a data collection form. Analyses were completed comparing the group with and those without evidence for airway malacia. Thirteen of 236 patients (5.5%) were found to have airway malacia. Most of those affected had lower airway involvement (9/13). The presence of airway malacia was correlated with an increased occurrence of obstructive sleep apnea as well as need for oxygen supplementation, airway surgeries and tracheostomy placement. Although estimates of the frequency of airway malacia in the general population are limited, its frequency in children with achondroplasia appears to be much higher than any published general population estimate. The presence of airway malacia appears to confound other breathing abnormalities in this population and results in the need for more invasive airway treatments.

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Cited by 107 publications

References 54 publications

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

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

Supernumerary Carpal Bones in Larsen Syndrome: A Review of the Literature and Case Study

Airway malacia in children with achondroplasia

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