Back متلازمة لارسن Arabic Larsenův syndrom Czech Larsen-Syndrom German Síndrome de Larsen Spanish Larsenin oireyhtymä Finnish Syndrome de Larsen French Sindrome di Larsen Italian Zespół Larsena Polish Larsens syndrom Swedish Larsen sendromu Turkish
| Larsen syndrome | |
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| 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]
- ^ a b 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.
- ^ a b 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.
- ^ 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.
- ^ a b 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.