Images - Extra (too many) carpal bones in Larsen′s syndrome (original) (raw)
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.
Larsen Syndrome and Associated Spinal Deformities
Cureus
Larsen syndrome is a rare genetic disorder that affects the connective tissue within the body. The present narrative review aims to examine the genetic basis of Larsen syndrome, clarify its symptoms, and define all the existing therapeutic approaches. A comprehensive search was performed in the PubMed database. Inclusion criteria considered molecular and clinical studies, management and surgical treatment of related deformities, case reports of patients with the syndrome, reviews of the associated anomalies, articles whose full text is available in PubMed, and articles published in the English language. Larsen syndrome is caused by mutations in the FLNB gene, which encodes the cytoskeletal protein filamin B, crucial in the development of the skeleton. Symptoms include joint dislocations, characteristic facial features and anomalies of the spine. Larsen syndrome may be conservatively treated initially, although surgical intervention is usually required. Various surgical techniques, including posterior spinal fusion, anterior decompression, circumferential arthrodesis, and single-stage 360° fixation, have been proposed along with growth-sparing procedures. Preoperative and postoperative care and education ensure optimal results. Further research is needed to identify novel therapeutic modalities for this condition.
Carpal coalition: a rare coincidence with hand deficiencies
Acta orthopaedica Belgica, 2003
Three cases in which congenital carpal fusion was associated with formation deficiencies of the hand are presented. In two patients with a lunate-triquetral and a capitate-hamate-trapezoid coalition, respectively, an ulnar deficient hand was also diagnosed. A subdivision of the first type of ulnar club hand deformities is proposed. Other skeletal anomalies included duplication of a phalanx and pseudoepiphysis of a metacarpal, respectively. In the latter case hypoplasia of the flexor tendons to the fingers, excluding the thumb, was also noted. In the third case, a proximal capitate-hamate coalition coexisted with aplasia of the flexor tendons to the middle finger.
Carpal Coalitions; Failures of Differentiation of the Carpus: A Description of Cases
Open Journal of Radiology, 2013
ABSTRACT Synostosis of carpal bones originates from lack of cavitation at the site of the future joint space with subsequent chondrification and ossification during the 4th to 8th weeks of intrauterine life. It is mostly seen as a chance finding discovered on radiographs. These coalitions are often asymptomatic, but can give complaints after trauma. We report six patients with different congenital carpal coalitions. These cases include synostoses of: scaphoid and trapezium, scaphoid and trapezium with a large scapholunate distance, lunate and triquetrum, capitate and trapezoid, capitate and hamate, triquetrum and pisiform. We also give a review of the literature and treatment proposal.
Symptomatic carpal coalition with degenerative changes: Report of two cases
European Journal of Radiology Extra, 2007
Congenital fibrous (synchondrosis) or bony (synostosis) coalition of carpal bones is a rare entity which is usually an asymptomatic incidental finding. We present one of each type which are symptomatic with degenerative changes. Radiological features of the abnormality are described with a brief review of the literature.
Three cases of multicentric carpotarsal osteolysis syndrome: a case series
BMC medical genetics, 2018
Multicentric carpotarsal osteolysis syndrome (MCTO) is characterized by progressive destruction and disappearance of the carpal and tarsal bones associated with nephropathy. MCTO is caused by loss-of-function mutations in the MAF bZIP transcription factor B (MAFB) gene. This report describes three unrelated patients with MAFB mutations, including two male and one female patient. Osteolytic lesions in the carpal and tarsal bones were detected at 2 years, 12 years, and 14 months of age, respectively. Associated proteinuria was noted at 4 years, 12 years, and 3 months of age, respectively. Kidney biopsy was performed in two of them and revealed focal segmental glomerulosclerosis (FSGS). One patient showed progression to end-stage renal disease, that is by 1 year after the detection of proteinuria. The second patient had persistent proteinuria but maintained normal renal function. In the third patient, who did not undergo a kidney biopsy, the proteinuria disappeared spontaneously. The b...
A revised and extended classification of the distal arthrogryposes
American Journal of Medical Genetics, 1996
Since the group of disorders known as the distal arthrogryposes (DAs) were defined, additional disorders characterized by multiple congenital contractures of the distal limbs were described, and the distribution of phenotypic findings in the DAs has been expanded. The breadth of disorders labeled as DAs has diminished the usefulness of the DA classification. W e propose a strict definition of DA and diagnostic criteria for DA disorders. Subsequently, we use these standards and propose a revised classification of discrete conditions that should be labeled DAs. Optimally, this serves as a framework for a DA classification based on underlying molecular and physiologic abnormalities.