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Larsen syndrome
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.〔Mitra, N., Kannan, N., Kumar, V.S., Kavita, G. "Larsen Syndrome: A Case Report." Journal Of Nepal Paediatric Society. 32.1 (2012): 85-87. Print.〕 Patients suffering from 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.〔Liang, C.D., Hang, C.L. " Elongation of the Aorta and Multiple Cardiovascular Abnormalities Associated with Larsen Syndrome." Pediatric Cardiology. 22. (2001): 245-246. Print.〕 Larsen syndrome can also cause a variety of cardiovascular〔Kiel, E.A., et al. "Cardiovascular Manifestations in the Larsen Syndrome." Pediatrics. 71.6 (1983): 942-946. Print.〕 and orthopedic abnormalities.〔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.〕 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.〔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.〕 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.〔Vujic, 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.〕 Larsen syndrome has recently been described as a mesenchyme disorder that affects the connective tissue of an individual.〔 Autosomal dominant and recessive forms of the disorder have been reported, although most cases are autosomal dominant.〔 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.〔
==Symptoms==
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