Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5

Abelin, 2008, The sagittal balance of the spine in children and adolescents with osteogenesis imperfecta, Eur. Spine J., 17, 1697, 10.1007/s00586-008-0793-8 Battle, 1908, A remarkable case of difuse cancellous osteoma of the femur following a fracture, in which similar growths afterwards developed connection with other bones, Proc. R. Soc. Med., 1, 83 Bauze, 1975, A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of forty-two patients, J. Bone Joint Surg., 57, 2, 10.1302/0301-620X.57B1.2 Castelein, 2019, Complex spine deformities in young patients with severe osteogenesis imperfecta: current concepts review, J. Child. Orthop., 13, 22, 10.1302/1863-2548.13.180185 Cheung, 2007, Natural history of hyperplastic callus formation in osteogenesis imperfecta type V, J. Bone Miner. Res., 22, 1181, 10.1359/jbmr.070418 Chu, 1983, Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta, Nature., 304, 78, 10.1038/304078a0 Fitzgerald, 2013, Phenotypic variability in individuals with type V osteogenesis imperfecta with identical IFITM5 mutations, J. Rare Disord., 1, 37 Forlino, 2016, Osteogenesis imperfecta, Lancet., 387, 1657, 10.1016/S0140-6736(15)00728-X Forlino, 2011, New perspectives on osteogenesis imperfecta, Nat. Rev. Endocrinol., 7, 540, 10.1038/nrendo.2011.81 Glorieux, 2000, Type V osteogenesis imperfecta: a new form of brittle bone disease, J. Bone Miner. Res., 15, 1650, 10.1359/jbmr.2000.15.9.1650 Hui, 2011, Osteogenesis imperfecta type V, Skelet. Radiol., 40, 1633, 10.1007/s00256-011-1236-x Marini, 2013, New genes in bone development: what's new in osteogenesis imperfecta, J. Clin. Endocrinol. Metab., 98, 3095, 10.1210/jc.2013-1505 Semler, 2012, A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus, Am. J. Hum. Genet., 91, 349, 10.1016/j.ajhg.2012.06.011 Shapiro, 2013, Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation, J. Bone Miner. Res., 28, 1523, 10.1002/jbmr.1891 Sillence, 1994, Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation, Pediatr. Radiol., 24, 427, 10.1007/BF02011910 Sillence, 1979, Genetic heterogeneity in osteogenesis imperfect, J. Med. Genet., 16, 101, 10.1136/jmg.16.2.101 Takagi, 2012, A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta, PLoS One, 7, 10.1371/journal.pone.0036809 Van Dijk, 2014, Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment, Am. J. Med. Genet. Part A, 164A, 1470, 10.1002/ajmg.a.36545 Van Dijk, 2012, EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta, Eur. J. Hum. Genet., 20, 11, 10.1038/ejhg.2011.141 Warman, 2011, Nosology and classification of genetic skeletal disorders: 2010 revision, Am J Med Genet A., 155A, 943, 10.1002/ajmg.a.33909 Warman, 2012, A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V, Am. J. Hum. Genet., 91, 343, 10.1016/j.ajhg.2012.06.005 White, 2017, Best practices in peri-operative management of patients with skeletal dysplasias, Am. J. Med. Genet. A, 173, 2584, 10.1002/ajmg.a.38357