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Page 1
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP. Bicknell LS, et al. J Med Genet. 2007 Feb;44(2):89-98. doi: 10.1136/jmg.2006.043687. Epub 2006 Jun 26. J Med Genet. 2007. PMID: 16801345 Free PMC article.
BACKGROUND: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. ...To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome …
BACKGROUND: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and crani …
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
Girisha KM, Bidchol AM, Graul-Neumann L, Gupta A, Hehr U, Lessel D, Nader S, Shah H, Wickert J, Kutsche K. Girisha KM, et al. BMC Med Genet. 2016 Apr 6;17:27. doi: 10.1186/s12881-016-0290-6. BMC Med Genet. 2016. PMID: 27048506 Free PMC article.
BACKGROUND: Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by large joint dislocations and craniofacial dysmorphism. ...(Gly1555Asp), c.2055G > C / p.Gln685delins10 and c.5021C > T / p.(Ala1674Val) as well as a frequently observed …
BACKGROUND: Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by large joint dislocations and craniofa …
Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis.
Handa A, Grigelioniene G, Nishimura G. Handa A, et al. Radiographics. 2023 May;43(5):e220067. doi: 10.1148/rg.220067. Radiographics. 2023. PMID: 37053103
The prototypes of bone dysplasia families include dysostosis multiplex family, achondroplasia family, spondyloepiphyseal dysplasia congenita family, and Larsen syndrome-otopalatodigital syndrome family. Since Spranger's proposal, the concept of bone dysplasia famili …
The prototypes of bone dysplasia families include dysostosis multiplex family, achondroplasia family, spondyloepiphyseal dysplasia congenita …
Cervicothoracic dislocation due to congenital and bone-dysplasia-related vertebral malformations.
Sergeenko OM, Evsyukov AV, Filatov EY, Ryabykh SO, Burtsev AV, Gubin AV. Sergeenko OM, et al. Spine Deform. 2023 Sep;11(5):1223-1238. doi: 10.1007/s43390-023-00690-1. Epub 2023 Apr 22. Spine Deform. 2023. PMID: 37086364
RESULTS: Only eight patients meeting the abovementioned selection criteria were found in the publications: three of them had the Klippel-Feil syndrome (KFS), two had one-level vertebral anomaly, one had neurofibromatosis (NF type 1), one had the Larsen syndrome, and …
RESULTS: Only eight patients meeting the abovementioned selection criteria were found in the publications: three of them had the Klippel-Fei …
Surgical Treatment of Congenital and Obligatory Dislocation of the Patella in Children.
Sever R, Fishkin M, Hemo Y, Wientroub S, Yaniv M. Sever R, et al. J Pediatr Orthop. 2019 Sep;39(8):436-440. doi: 10.1097/BPO.0000000000000973. J Pediatr Orthop. 2019. PMID: 31393310
The outcome measures were patellar stability, knee range of motion, Pedi-IKDC knee function score, and the PODCI global function score. RESULTS: The study group included 12 patients, 9 females and 3 males (15 knees) whose mean age was 5 years 2 months at diagnosis a …
The outcome measures were patellar stability, knee range of motion, Pedi-IKDC knee function score, and the PODCI global function s …
Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.
Menezes AH, Traynelis VC. Menezes AH, et al. Childs Nerv Syst. 2022 Feb;38(2):361-377. doi: 10.1007/s00381-021-05409-z. Epub 2021 Nov 22. Childs Nerv Syst. 2022. PMID: 34806157 Review.
Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, osteogenesis imperfecta (OI) 2, Aarskog syndrome 1, Weaver syndrome 1, Larsen syndrome 1, multiple cervical level disconnection …
Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, o …
Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.
S UK, Sankar S, Younes S, D TK, Ahmad MN, Okashah SS, Kamaraj B, Al-Subaie AM, C GPD, Zayed H. S UK, et al. Molecules. 2020 Nov 26;25(23):5543. doi: 10.3390/molecules25235543. Molecules. 2020. PMID: 33255942 Free PMC article.
The four autosomal dominant disorders that are associated with FLNB variants are Larsen syndrome, atelosteogenesis type I (AOI), atelosteogenesis type III (AOIII), and boomerang dysplasia (BD). Despite the intense clustering of FLNB variants contributing to the LS-A …
The four autosomal dominant disorders that are associated with FLNB variants are Larsen syndrome, atelosteogenesis type I (AOI …
A case study of atypical Larsen syndrome with absent hallmark joint dislocations.
Kodra N, Diamonstein C, Hauser NS. Kodra N, et al. Mol Genet Genomic Med. 2019 May;7(5):e648. doi: 10.1002/mgg3.648. Epub 2019 Mar 27. Mol Genet Genomic Med. 2019. PMID: 30916490 Free PMC article.
Whole-exome sequencing (WES) analysis indicated a diagnosis of Larsen syndrome, although their clinical presentation does not include the hallmark joint dislocations typically observed in Larsen syndrome. ...CONCLUSION: This is a highly unusual …
Whole-exome sequencing (WES) analysis indicated a diagnosis of Larsen syndrome, although their clinical presentation does not …
Management of severe cervical kyphosis in a patient with Larsen syndrome. Case report.
Madera M, Crawford A, Mangano FT. Madera M, et al. J Neurosurg Pediatr. 2008 Apr;1(4):320-4. doi: 10.3171/PED/2008/1/4/320. J Neurosurg Pediatr. 2008. PMID: 18377309 Review.
Larsen syndrome is a rare genetic disorder of the connective tissue that is characterized by multiple joint dislocations, distinctive deformities of the hands and feet, characteristic facial features, kyphoscoliosis, and segmentation anomalies of the vertebrae. ...A …
Larsen syndrome is a rare genetic disorder of the connective tissue that is characterized by multiple joint dislocations, dist …
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree.
Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Hickey SE, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004176. doi: 10.1101/mcs.a004176. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31836586 Free PMC article.
Larsen syndrome may present with pathology that primarily involves one joint and thus may be difficult to differentiate clinically from other skeletal dysplasias or arthrogryposis syndromes. ...(Glu1823del) variant maps to a filamin repeat domain where other disease …
Larsen syndrome may present with pathology that primarily involves one joint and thus may be difficult to differentiate clinic …
21 results