Hands of a person with Larsen syndrome: Note the joint abnormalities of the left hand.
Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they observed dislocation of the large joints and face anomalies in six of their patients.[1] Patients with Larsen syndrome normally present with a variety of symptoms, including congenital anterior dislocation of the knees, dislocation of the hips and elbows, flattened facial appearance, prominent foreheads, and depressed nasal bridges.[2] Larsen syndrome can also cause a variety of cardiovascular[3] and orthopedic abnormalities.[4] This rare disorder is caused by a genetic defect in the gene encoding filamin B, a cytoplasmic protein that is important in regulating the structure and activity of the cytoskeleton.[5] The gene that influences the emergence of Larsen syndrome is found in chromosome region, 3p21.1-14.1, a region containing human type VII collagen gene.[6] Larsen syndrome has recently been described as a mesenchyme disorder that affects the connective tissue of an individual.[2] Autosomal dominant and recessive forms of the disorder have been reported, although most cases are autosomal dominant.[1] Reports have found that in Western societies, Larsen syndrome can be found in one in every 100,000 births, but this is most likely an underestimate because the disorder is frequently unrecognized or misdiagnosed.[6]
^ abMitra, N., Kannan, N., Kumar, V.S., Kavita, G. "Larsen Syndrome: A Case Report." Journal of Nepal Paediatric Society. 32.1 (2012): 85-87. Print.
^ abLiang, C.D., Hang, C.L. " Elongation of the Aorta and Multiple Cardiovascular Abnormalities Associated with Larsen Syndrome." Pediatric Cardiology. 22. (2001): 245-246. Print.
^Kiel, E.A., et al. "Cardiovascular Manifestations in the Larsen Syndrome." Pediatrics. 71.6 (1983): 942-946. Print.
^Johnston, C.E., Birch, J.G., Daniels, J.L. "Cervical Kyphosis in Patients Who Have Larsen Syndrome." Journal of Bone and Joint Surgery. 78.4 (1996): 538-545. Print.
^Krakow, D. et al. "Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis." Nature Genetics. 36.4 (2004): 405-410. Print.
^ abVujic, M., et al. "Localization of a Gene for Autosomal Dominant Larsen Syndrome to Chromosome Region 3p2I.I-I4.1 in the Proximity of, but Distinct from, the COL7A I Locus." American Journal of Human Genetics. 57. (1995): 1104-1113. Print.
Larsensyndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they observed dislocation of the large joints and face anomalies...
repeated joint dislocations may lead to a differential diagnosis of Larsensyndrome, as suggested in one reported case. Bone maturation may be delayed...
associated with racquet nail include Larsensyndrome, Brooke–Spiegler syndrome, Rubinstein–Taybi syndrome, Hajdu–Cheney syndrome, cartilage–hair hypoplasia, pycnodysostosis...
Larsen may refer to: Larsen (surname) Larsen Bay, in Alaska, United States Larsen Channel, in Antarctica Larsen Ice Shelf, in Antarctica Larsen Islands...
Newmarket, Ontario. Hines has a rare genetic joint condition called Larsen'ssyndrome and uses a power wheelchair. He is a strong supporter of numerous...
of genetic disorders such as Ellis–van Creveld syndrome, Larsensyndrome, and Ehlers–Danlos syndrome. As the injury may have self-reduced before arrival...
Long QT syndrome (LQTS) is a condition affecting repolarization (relaxing) of the heart after a heartbeat, giving rise to an abnormally lengthy QT interval...
patellofemoral pain syndrome is made by ruling out patellar tendinitis, prepatellar bursitis, plica syndrome, Sinding-Larsen and Johansson syndrome, and Osgood–Schlatter...
Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. As such...
They cannot pass the gene to the next generation.[citation needed] Larsensyndrome Bicknell LS, Morgan T, Bonife L, Wessels MW, Bialer MG, Willems PJ...
Euthyroid sick syndrome (ESS) is a state of adaptation or dysregulation of thyrotropic feedback control wherein the levels of T3 and/or T4 are abnormal...
predisposition to colon cancer. HNPCC includes (and was once synonymous with) Lynch syndrome, an autosomal dominant genetic condition that is associated with a high...
disorder or syndrome. Disorders associated with PRS include Stickler syndrome, DiGeorge syndrome, fetal alcohol syndrome, Treacher Collins syndrome, and Patau...
which includes many forms of arthritis as well as lupus and Sjögren's syndrome. Doctors who have undergone formal training in rheumatology are called...
Ehlers-Danlos syndrome may be considered a congenital disorder of glycosylation (CDG), according to the new CDG nomenclature. Mutations in B4GALT7 cause Larsen syndrome...
Global Information