"Larsen syndrome"

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. Larsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. The autosomal dominant type is caused by mutations in the gene that encodes the connective tissue protein, filamin B (FLNB by defects in collagen, exhibiting a wide specter of manifestations in connective tissue. A rare case is reported that was diagnosed with all these three hereditary connective tissue disorders. A 19 year-old, Norwegian male with a clinical diagnosis of Larsen syndrome and with healthy, non-consanguineous parents attended a reference center for rare connective tissue disorders. Findings at birth were

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. Larsen syndrome is characterized by the dislocation of large joints and other less consistent clinical findings. Heterozygous FLNB mutations account for the majority of Larsen syndrome cases, but biallelic mutations in CHST3 and B4GALT7 have been more recently described, thus confirming the existence of recessive forms , including P3H2, which hints at a potential disease mechanism. Our results suggest that GZF1 mutations cause a phenotype of severe myopia and significant articular involvement not previously described in Larsen syndrome.

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalized counseling on transmission risk to future

Management of joint dislocations of the lower limb in Larsen syndrome: practical approach INTRODUCTION Larsen syndrome is an autosomal-dominant osteochondrodysplasia characterised by large joint dislocations and craniofacial anomalies. CASE HISTORY We present a rare case of Larsen syndrome with bilateral dislocated hips and knees and severe clubfeet at 7-year follow-up. We undertook bilateral

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. 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. 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

One Stage Bilateral Total Hip Arthroplasty in Siblings with Larsen Syndrome Larsen syndrome is a rare genetic disorder caused by congenital weakness of the connective tissues. It can present with a variety of musculoskeletal and cardiovascular abnormalities. The current report describes two siblings with Larsen Syndrome who presented with severe bilateral hip arthritis and underwent one stage bilateral total hip arthroplasty (THA). The aim was to report on the clinical features of Larsen Syndrome and their implications for total hip replacement surgery. Two siblings, a 32 year-old female and a 30 year-old male, presented with severe bilateral hip arthritis and a history of Larsen Syndrome. Both patients underwent a detailed, multidisciplinary preoperative medical work up and radiological

* achondroplasia * mucopolysaccharidosis * Ehlers-Danlos syndrome * Marfan syndrome * osteogenesis imperfecta * Larsen syndrome * juvenile rheumatoid arthritis * juvenile ankylosing spondylitis * renal osteodystrophy * rickets * history of CSI or cervical spine surgery * occult congenital deformity such as os odontoideum (a congenitally short odontoid peg limiting the effectiveness of the transverse ligament

Larsen's Syndrome With C3 - C4 Spondyloptosis and Atlantoaxial Dislocation in an Adult. This is a clinical case report with a review of relevant literature. To describe a case of Larsen syndrome with C3-C4 spondyloptosis and atlantoaxial dislocation in a middle-aged female patient and to discuss management strategies. Spondyloptosis of the cervical spine is relatively rare and is caused by trauma, destruction of the vertebral bodies by tumors, or tuberculosis. Such gross vertebral displacement is usually associated with significant neurological deficits. Larsen syndrome is characterized by multiple joint displacements and can, very rarely, be associated with nontraumatic spondyloptosis of the cervical vertebra. A single case report of C1-C2 joint laxity causing atlantoaxial dislocation

Precocious appearance of the capital femoral ossific nucleus in larsen syndrome. Larsen syndrome is associated with multiple complications, including spinal deformities and recalcitrant joint dislocations. We noted capital femoral ossific nuclei on ultrasonographic images that were made for two infants with Larsen syndrome who were less than two weeks of age. We sought to confirm that this finding is common in patients with Larsen syndrome and unusual in patients with normal hips or idiopathic developmental dysplasia of the hip. We identified eight patients with Larsen syndrome who had undergone ultrasonographic or radiographic evaluation of the hips before the age of three months. We compared the findings for these eight patients with those for forty consecutive patients from

Ossicular malposition in Larsen syndrome: a case report Larsen syndrome is a rare condition that causes multiple large joint dislocations and characteristic flattened facies. We present a case of a patient with Larsen syndrome with a conductive hearing loss due to ossicular malposition/dislocation. We discuss the aetiopathogenesis of hearing loss in Larsen syndrome.

families. Affected individuals were more likely to be male and have bilateral clubfoot. Although most patients had isolated clubfoot, features consistent with Larsen syndrome, including upper extremity abnormalities such as elbow and thumb hypermobility and wide, flat thumbs, were noted in affected members of one family. We identified 19 additional rare FLNB missense variants located throughout the gene in patients with clubfoot, although rare, may be among the most commonly known genetic causes of clubfoot. Patients with FLNB variants often have isolated clubfoot, but they and their family members may be at an increased risk of having additional clinical features consistent with Larsen syndrome. Identification of FLNB variants may be useful for determining clubfoot recurrence risk and comorbidities.

* Congenital bilateral hip dislocation. * Severe GJH, with multiple dislocations/subluxations. * Skin hyperextensibility.Minor criteria * Muscle hypotonia. * Kyphoscoliosis. * Radiologically mild osteopenia. * Tissue fragility, including atrophic scars. * Easily bruised skin.A rare (but more common than aEDS) differential diagnosis is Larsen syndrome, a congenital disorder caused by a defect in the gene

are spared (as in Sinding-Larsen syndrome and involvement of first metatarsal sesamoids). The underlying processes seem to be essentially the same for isolated and multiple-site disease. However, presentations may vary, depending on the stresses and strains to which the epiphyses have been subjected. The efficacy of regeneration and repair determines the patient’s long-term clinical outcome.With complete

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. The location and/or type of variants in FLNB result in a spectrum of osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis syndrome and Larsen syndrome, to severe perinatal lethal forms, such as atelosteogenesis I and III and Boomerang dysplasia

Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings Non-randomly distributed missense mutations of () can lead to a spectrum of autosomal dominant-inherited skeletal malformations caused by bone hypoplasia, including Larsen syndrome (LS), atelosteogenesi-I (AO-I), atelosteogenesi-I (AO-III

reveal how mutations in Filamin genes known to cause Larsen syndrome and Frontometaphyseal dysplasia can affect the structure and therefore function of Filamin domains 16 and 17. Employing X-ray crystallography, the structure of these domains was first solved for the human Filamin B. The interaction seen between domains 16 and 17 is broken by shear force as revealed by steered molecular dynamics simulations. The effects of skeletal dysplasia associated mutations of the structure and mechanosensing properties of Filamin were studied by combining various experimental and theoretical techniques. The results showed that Larsen syndrome associated mutations destabilize or even unfold domain 17. Interestingly, those Filamin functions that are mediated via domain 17 interactions with other proteins

abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes. We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A). Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively. The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper

. Hereditary Myopathy (e.g. Bethlem) 1. Hypotonia 2. Weakness 3. Joint Laxity 4. Loeys-Dietz Syndrome 1. Aortic aneurysm 2. Cleft Palate 3. Bifid uvula 4. Hypertelorism 5. Hypotonia 5. Skeletal Dysplasia 1. Osteogenesis Imperfecta 2. Larsen Syndrome 6. Other congenital syndromes 1. Fragile X Syndrome IX. Complications 1. Pes Planus 2. Hip

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. First described as a variant of Larsen syndrome in Reunion Island (LRS) in the southern Indian Ocean, 'Larsen of Reunion Island syndrome' is characterized by dwarfism, hyperlaxity, multiple dislocations and distinctive facial features. It overlaps with Desbuquois dysplasia, Larsen syndrome and spondyloepiphyseal dysplasia with dislocations ascribed to CANT1, FLNB and CHST3 mutations, respectively. We collected the samples of 22 LRS cases. After exclusion of CANT1, FLNB and CHST3 genes, an exome sequencing was performed in two affected second cousins and one unaffected sister. We identified a homozygous missense mutation in B4GALT7, NM_007255.2: c.808C>T