Tuberous Sclerosis Complex Associated with Heterotopic Ossification in a Young Girl

Roach, 1999, Tuberous sclerosis consensus conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association, J Child Neurol, 14, 401, 10.1177/088307389901400610 Dabora, 2001, Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs, Am J Hum Genet, 68, 64, 10.1086/316951 Sancak, 2005, Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex, Eur J Hum Genet, 13, 731, 10.1038/sj.ejhg.5201402 Cohen, 1993, The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients, J Bone Joint Surg Am, 75, 215, 10.2106/00004623-199302000-00008 Lin, 2006, De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva, J Hum Genet, 51, 1083, 10.1007/s10038-006-0069-2 Druce, 2002, A case report of myositis ossificans progressiva complicated by femoral nerve compression treated with radiotherapy, Rheumatology (Oxford), 41, 947, 10.1093/rheumatology/41.8.947 Hatano, 2004, MR imaging findings of an unusual case of myositis ossificans presenting as a progressive mass with features of fluid-fluid level, J Orthop Sci, 9, 399, 10.1007/s00776-004-0795-2 Kaplan, 2008, Fibrodysplasia ossificans progressiva, Best Pract Res Clin Rheumatol, 22, 191, 10.1016/j.berh.2007.11.007 Rosser, 2006, The diverse clinical manifestations of tuberous sclerosis complex: a review, Semin Pediatr Neurol, 13, 27, 10.1016/j.spen.2006.01.008 Kaplan, 2005, Fibrodysplasia ossificans progressiva: an historical perspective, Clin Rev Bone Miner Metab, 3, 179, 10.1385/BMM:3:3-4:179 Kaplan, 2008, Early diagnosis of fibrodysplasia ossificans progressiva, Pediatrics, 121, 1295, 10.1542/peds.2007-1980 de la Peña, 2005, Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA, J Bone Miner Res, 20, 1168, 10.1359/JBMR.050305 Shore, 2006, A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva, Nat Genet, 38, 525, 10.1038/ng1783 Naraghi, 1996, Heterotopic ossification, Orthopedics, 19, 145, 10.3928/0147-7447-19960201-10 Shah, 1994, Spinal deformity in patients who have fibrodysplasia ossificans progressiva, J Bone Joint Surg Am, 76, 1442, 10.2106/00004623-199410000-00002