Osteoporosis in Stickler syndrome. A new family case with bone histology study

Stickler, 1965, Hereditary progressive arthro-ophthalmopathy, Mayo Clin Proc, 40, 433 Nowak, 1998, Genetics and hearing loss: a review of Stickler syndrome, J Commun Disord, 31, 437, 10.1016/S0021-9924(98)00015-X Temple, 1989, Stickler's syndrome, J Med Genet, 26, 119, 10.1136/jmg.26.2.119 Couchouron, 2011, Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome, Joint Bone Spine, 78, 45, 10.1016/j.jbspin.2010.03.012 Rai, 1994, Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis, Br J Rheumatol, 33, 1175, 10.1093/rheumatology/33.12.1175 Snead, 1999, Clinical and molecular genetics of Stickler syndrome, J Med Genet, 36, 353, 10.1136/jmg.36.5.353 Francomano, 1987, The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen, Genomics, 1, 293, 10.1016/0888-7543(87)90027-9 Rose, 2001, Thoracolumbar spinal abnormalities in Stickler syndrome, Spine, 26, 403, 10.1097/00007632-200102150-00017 Rose, 2005, Stickler syndrome: clinical characteristics and diagnostic criteria, Am J Med Genet A, 138A, 199, 10.1002/ajmg.a.30955 Audran, 2012, Is transiliac bone biopsy a painful procedure?, Clin Nephrol, 77, 97, 10.5414/CN107207 Snead, 1994, Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1, Eye, 8, 609, 10.1038/eye.1994.153 Prockop, 1992, Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases, N Engl J Med, 326, 540, 10.1056/NEJM199202203260807 Ahmad, 1991, Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy), Proc Natl Acad Sci U S A, 88, 6624, 10.1073/pnas.88.15.6624 Williams, 1996, A-2→G transition at the 3′ acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred, Am J Med Genet, 63, 461, 10.1002/(SICI)1096-8628(19960614)63:3<461::AID-AJMG9>3.0.CO;2-U Zechi-Ceide, 2008, Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis, Eur J Med Genet, 51, 183, 10.1016/j.ejmg.2007.12.008 Li, 2010, Adult presentation of Stickler syndrome type III, Clin Rheumatol, 29, 795, 10.1007/s10067-010-1382-x Sirko-Osadsa, 1998, Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α 2 (XI) chain of type XI collagen, J Pediat, 132, 368, 10.1016/S0022-3476(98)70466-4 Van Camp, 2006, A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene, Am J Hum Genet, 79, 449, 10.1086/506478 Poulson, 2004, Clinical features of type 2 Stickler syndrome, J Med Genet, 41, e107, 10.1136/jmg.2004.018382 Liberfarb, 1986, Prevalence of mitral valve prolapse in the Stickler syndrome, Am J Med Genet, 24, 387, 10.1002/ajmg.1320240302 Ahmad, 2003, Prevalence of mitral valve prolapse in Stickler syndrome, Am J Med Genet A, 116A, 234, 10.1002/ajmg.a.10619 Sebes, 2000, Hereditary arthro-ophthalmopathy (Stickler syndrome), Skeletal Radiol, 29, 613, 10.1007/s002560000268 Rudolph, 2003, Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly, Am J Ophthalmol, 135, 681, 10.1016/S0002-9394(02)02155-4 Li, 1995, Transgenic mice with targeted inactivation of the Col2 alpha 1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone, Genes Dev, 9, 2821, 10.1101/gad.9.22.2821 Kaarniranta, 2006, A mouse model for Stickler's syndrome: ocular phenotype of mice carrying a targeted heterozygous inactivation of type II (pro) collagen gene (Col2a1), Exp Eye Res, 83, 297, 10.1016/j.exer.2005.11.027 Chen, 2004, Bigenic Cre/loxP, puDeltatk conditional genetic ablation, Nucleic Acids Res, 32, e161, 10.1093/nar/gnh158