Images - Extra (too many) carpal bones in Larsen′s syndrome (original) (raw)
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Pediatric Radiology, 2006
Larsen syndrome is an autosomal-dominant disorder characterized by multiple joint dislocations, vertebral anomalies and dysmorphic facies. Both autosomaldominant and autosomal-recessive forms of the disorder have been proposed. Individuals with autosomal-dominant Larsen syndrome have characteristic "cylindrical-shape" thumbs caused by broad, shortened phalanges. Autosomaldominant Larsen syndrome results from heterozygosity for mutations in filamin B, a cytoskeletal protein involved in multicellular processes. We report here a patient with a duplicated or accessory distal thumb phalanx and multiple large joint dislocations who was shown to be heterozygous for a filamin B mutation predicting the amino acid substitution G1691S. This adds a new radiographic finding, duplicated or accessory distal phalanx, to the radiographic abnormalities seen in this rare dominant disorder.
A rare condition: Larsen Syndrome
Nursing Communications
This case report describe the case of A 29 months old male child born with He was born with dysmorphic features like low set of ears, depressed nasal bridge, micro-retrocongnatheis, a broad forehead, overlapping fingers with the abnormal thumb of the hands, elbow joint contracture, bilateral congenital talipes equinovarus, long broad arteries, and patent foramen ovale, diagnosed as Larsen syndrome.
Larsen Syndrome: A Case Report
Journal of Nepal Paediatric Society, 2012
Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. This rare inherited disorder is characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Awareness of this condition and assosciated complications helps in better follow up and management of these patients. Key words: Genu recurvatum; Short stature; Hypodontia; Bifid uvula; Submucosal cleft palate; Cardiac anomaly DOI: http://dx.doi.org/10.3126/jnps.v32i1.5349 J. Nepal Paediatr. Soc. Vol.32(1) 2012 85-87
BMC Medical Genetics, 2016
Background: Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by large joint dislocations and craniofacial dysmorphism. It is caused by missense or small in-frame deletions in the FLNB gene. To further characterize the phenotype and the mutation spectrum of this condition, we investigated seven probands, five sporadic individuals and a mother-son-duo with Larsen syndrome. Methods: The seven patients from six unrelated families were clinically and radiologically evaluated. All patients were screened for mutations in selected exons and exon-intron boundaries of the FLNB gene by Sanger sequencing. FLNB transcript analysis was carried out in one patient to analyse the effect of the sequence variant on pre-mRNA splicing. Results: All patients exhibited typical facial features and joint dislocations. Contrary to the widely described advanced carpal ossification, we noted delay in two patients. We identified the five novel mutations c.4927G > A/p.(Gly1643Ser), c.4876G > T / p.(Gly1626Trp), c.4664G > A / p.(Gly1555Asp), c.2055G > C / p.Gln685delins10 and c.5021C > T / p.(Ala1674Val) as well as a frequently observed mutation in Larsen syndrome [c.5164G > A/p.(Gly1722Ser)] in the hotspot regions. FLNB transcript analysis of the c.2055G > C variant revealed insertion of 27 bp intronic sequence between exon 13 and 14 which gives rise to in-frame deletion of glutamine 685 and insertion of ten novel amino acid residues (p.Gln685delins10). Conclusions: All seven individuals with Larsen syndrome had a uniform clinical phenotype except for delayed carpal ossification in two of them. Our study reveals five novel FLNB mutations and confirms immunoglobulin-like (Ig) repeats 14 and 15 as major hotspot regions. The p.Gln685delins10 mutation is the first Larsen syndrome-associated alteration located in Ig repeat 5. All mutations reported so far leave the filamin B protein intact in accordance with a gain-offunction effect. Our findings underscore the characteristic clinical picture of FLNB-associated Larsen syndrome and add Ig repeat 5 to the filamin B domains affected by the clustered mutations.
Biochemical and structural abnormalities of the connective tissue in Larsen's syndrome
International Orthopaedics, 1979
Skin, iliac crest cartilage and tendon of a patient affected with Larsen's syndrome were subjected to biochemical and ultrastructural investigation. A substantial increase in the ratio of glucosamine to galactosamine was found both in skin and cartilage. Ultrastructural abnormalities of collagen fibres and proteoglycan filaments were also found in Larsen's tissues. The significance of these findings are discussed.
Hand and Wrist: A Kaleidoscopic View of Accessory Ossicles, Variants, Coalitions, and Others
Seminars in Musculoskeletal Radiology, 2019
Accessory bones, variants, and coalitions are not uncommon at the hand-wrist region. They are often overlooked because they are usually asymptomatic and found incidentally on imaging. However, they may sometimes present as a (painful) swelling or mimic a (sequel of a) fracture. Other symptoms may be attributed to impingement and exercise-related pain. Thorough knowledge of the anatomy, systematic imaging analysis, and the awareness of their existence are the clues to a correct identification. Plain radiography and magnetic resonance imaging (MRI) play a pivotal role in the correct diagnosis. In general, signal intensity on MRI is similar to the normal bony structures. However, concomitant bone marrow edema may indicate the presence of impingement. Therefore, MRI sequences with fat suppression should be included in case of symptomatic findings. This article provides a kaleidoscopic overview of some of the prevalent bony anomalies of the hand-wrist region and their potential pathogeni...
Congenital Anomalies of the Hand
Journal of Craniofacial Surgery, 2009
To have a better understanding of teratogenic mechanisms of congenital absence of digits, ulnar and radial deficiencies, cleft hand, and symbrachydactyly were analyzed in clinical cases. The same anomalies were induced in rat fetuses by busulfan, and their characteristics were investigated. The formation process of longitudinal deficiency also was observed histologically. There seemed to be 4 teratogenic mechanisms of congenital absence of digits. Ulnar and radial deficiencies have the same clinical features, and the cause of these deficiencies is related closely to a deficit of mesenchymal cells in the limb bud caused by the impairment before the formation of the limb bud. Cleft hand, central polydactyly, and osseous syndactyly were induced by the same treatment at the same developmental stage in rats. Cleft hand formation process from osseous syndactylies and central polydactylies was supposed. The teratogenic mechanism of cleft hand seemed to be failure of induction of digital rays in the hand plate. The sequence of anomalies from brachysyndactyly, or the atypical cleft hand, to the transverse deficiency can be regarded as equivalent to the category of bony dysplasia of the hand. Congenital constriction ring syndrome does appear after the formation of the digital rays.
Congenital contractural deformities of the fingers and arthropathy
Annals of the Rheumatic Diseases, 1985
Four patients are described who presented with congenital finger contractures and arthropathy. There was synovial cell hyperplasia and giant cells but no inflammatory process. Radiographs showed flattening of the metacarpal and metatarsal heads and the proximal femoral ossification centres. In the oldest patient the process had subsided leaving slight contractures but severe impairment of hip mobility. In another the arthropathy was still prominent in the early teens. In a third, finger contractures had failed to respond to conservative or surgical measures.