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• W3122395514 abstract "Latta RJ, Graham CB, Aase J, Scham SM, Smith DW. Larsen's Syndrome: A Skeletal Dysplasia with Multiple Joint Dislocations and Unusual Facies. J Pediatr 1971;78:291-8. Fifty years ago, Latta et al reported a 6-month-old male infant with multiple joint dislocations including the knee, hip, and elbow joints, as well as bilateral clubfoot deformities. The child had mid facial flattening and a low nasal bridge. Skeletal radiographs were significant for shortening of the proximal fibula; bilateral heel valgus with forefoot varus; shortening of the metatarsals, metacarpals, and phalanges; and hypoplasia of the distal half of the humerus. Spinal radiographs were significant for flattened hypoplastic vertebrae. The patient's radiographic features were very similar to those reported among 6 children, representing sporadic occurrences in their families, 21 years prior in The Journal by Larsen et al.1Larsen L.K. Schottstaedt E.R. Bost F.C. Multiple congenital dislocations associated with characteristic facial abnormality.J Pediatr. 1950; 37: 574Abstract Full Text PDF PubMed Scopus (197) Google Scholar Inheritance for Larsen syndrome was postulated to be autosomal dominant or autosomal recessive. Other features associated with Larsen syndrome include short stature, hypertelorism, flattened nasal bridge, cleft palate, hearing loss, and accessory carpal bones. Monoallelic missense mutations in filamin B were subsequently identified in 5 families with affected individuals affected by Larsen syndrome.2Krakow D. Robertson S.P. King L.M. Morgan T. Sebald E.T. Bertolotto C. et al.Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.Nat Genet. 2004; 36: 405-410Crossref PubMed Scopus (204) Google Scholar Filamins are cytoplasmic localized proteins that stabilize actin filament networks through their linkage to the cellular membrane and forming a platform for cell signaling to take place. Larsen syndrome is a clinically and genetically heterogeneous syndrome. Homozygous or compound heterozygous mutations in CHST3 have been associated with autosomal recessive Larsen syndrome, which is characterized by multiple joint dislocations in the neonatal period and evolves into spondyloepiphyseal dysplasia Omani type associated with kyphoscoliosis, disc degeneration, arthritis involving the spine hand hips, and dysplastic heart valves. Additional autosomal recessive forms of Larsen syndrome are characterized by mutations in B4GALT7and GZF1, which encodes GDNF-inducible zinc finger protein 1, a transcription factor with unknown function.3Patel N. Shamseldin H.E. Sakati N. Khan A.O. Ameen Softas A. Al-Fadhli F.M. et al.GZF1 mutations expand the genetic heterogeneity of Larsen syndrome.Am J Hum Genet. 2017; 100: 831-836Abstract Full Text Full Text PDF PubMed Scopus (10) Google Scholar GZF1-mediated Larsen syndrome is associated with severe myopia and milder skeletal involvement." @default.
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• W3122395514 title "50 Years Ago in T J P" @default.
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• W3122395514 doi "https://doi.org/10.1016/j.jpeds.2020.08.075" @default.
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