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Page 1
The type XI collagenopathies.
Spranger J. Spranger J. Pediatr Radiol. 1998 Oct;28(10):745-50. doi: 10.1007/s002470050459. Pediatr Radiol. 1998. PMID: 9799295 Review.
Type XI collagen is a minor component of cartilage collagen. Mutations of the three genes coding for its proteins are expressed in a peculiar phenotype. ...The pattern of clinical and radiographic changes is also found in some type II collagenopathies. On the …
Type XI collagen is a minor component of cartilage collagen. Mutations of the three genes coding for its proteins are expresse …
A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.
Miyamoto Y, Nakashima E, Hiraoka H, Ohashi H, Ikegawa S. Miyamoto Y, et al. Hum Genet. 2005 Nov;118(2):175-8. doi: 10.1007/s00439-005-0058-0. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16189708
Oto-spondylo-megaepiphyseal dysplasia (OSMED) is a skeletal dysplasia characterized by severe sensorineural hearing loss, enlarged epiphyses and early onset of osteoarthritis. ...These exon-skipping events are presumed to cause an in-frame delet …
Oto-spondylo-megaepiphyseal dysplasia (OSMED) is a skeletal dysplasia characterized by severe sensorineur …
Otospondylomegaepiphyseal Dysplasia: A Case Report of Clinical and Radiographic Findings.
Williams BR, Calhoun ARUL, Holton KJ, Kelly BJ, Sembrano JN. Williams BR, et al. JBJS Case Connect. 2020 Oct 16;10(4):e20.00140. doi: 10.2106/JBJS.CC.20.00140. JBJS Case Connect. 2020. PMID: 33512935
CASE: We present a long-term follow-up on a woman with otospondylomegaepiphyseal dysplasia (OSMED). At the age of 46 years, she is one of the oldest patients with the syndrome in the literature to date. We focus on the musculoskeletal anatomy and orthopaedic …
CASE: We present a long-term follow-up on a woman with otospondylomegaepiphyseal dysplasia (OSMED). At the age of 46 ye …
Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
Temtamy SA, Männikkö M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH. Temtamy SA, et al. Am J Med Genet A. 2006 Jun 1;140(11):1189-95. doi: 10.1002/ajmg.a.31205. Am J Med Genet A. 2006. PMID: 16637051
Oto-spondylo-megaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutation of type XI collagen. ...The purpose of this study is to report clinical and radiological findings in two molecularly proven Egyptian sibs with autosomal …
Oto-spondylo-megaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutation of type XI colla …
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG. van Steensel MA, et al. Am J Med Genet. 1997 Jun 13;70(3):315-23. doi: 10.1002/(sici)1096-8628(19970613)70:3<315::aid-ajmg19>3.3.co;2-y. Am J Med Genet. 1997. PMID: 9188673 Free article.
Clinical and roentgenographic findings are compatible with a diagnosis of oto-spondylo-megaepiphyseal dysplasia (OSMED). Histologic study of cartilage shows severe osteoarthritis, which may necessitate joint replacements in early adulthood. Ultr …
Clinical and roentgenographic findings are compatible with a diagnosis of oto-spondylo-megaepiphyseal dysplasia …
Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia.
Agarwal PP, Srinivasan A, Sharma R, Kabra M, Gupta AK. Agarwal PP, et al. Pediatr Radiol. 2003 Dec;33(12):893-6. doi: 10.1007/s00247-003-1033-3. Epub 2003 Sep 6. Pediatr Radiol. 2003. PMID: 13680008
Although it shares some features with spondylo-metaphyseal dysplasia, oto-spondylo-megaepiphyseal dysplasia and cleidocranial dysplasia, the presence of several unusual radiological findings sets it apart....
Although it shares some features with spondylo-metaphyseal dysplasia, oto-spondylo-megaepiphyseal dysplasia and …
Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED).
Li SW, Takanosu M, Arita M, Bao Y, Ren ZX, Maier A, Prockop DJ, Mayne R. Li SW, et al. Dev Dyn. 2001 Oct;222(2):141-52. doi: 10.1002/dvdy.1178. Dev Dyn. 2001. PMID: 11668593 Free article.
However, pepsin-resistant collagen chains of either alpha1(XI) or alpha1(V) were still detected on sodium dodecyl sulfate polyacrylamide gel electrophoresis. ...The mild phenotype is consistent with similar mutations in the COL11A2 gene seen in patients with nonocular Stic …
However, pepsin-resistant collagen chains of either alpha1(XI) or alpha1(V) were still detected on sodium dodecyl sulfate polyacrylam …
Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2.
Tokgöz-Yılmaz S, Sahlı S, Fitoz S, Sennaroğlu G, Tekin M. Tokgöz-Yılmaz S, et al. Int J Pediatr Otorhinolaryngol. 2011 Mar;75(3):433-7. doi: 10.1016/j.ijporl.2010.12.004. Epub 2011 Jan 3. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21208667 Free PMC article.
The aim of the study was to assess the audiological findings of a 4-year-old child with a homozygous COL11A2 mutation and to point out the role of continuous follow-ups in children with craniofacial syndromes after the newborn hearing screening. A 4-year-old boy with otospondy …
The aim of the study was to assess the audiological findings of a 4-year-old child with a homozygous COL11A2 mutation and to point out the r …
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.
Micale L, Morlino S, Schirizzi A, Agolini E, Nardella G, Fusco C, Castellana S, Guarnieri V, Villa R, Bedeschi MF, Grammatico P, Novelli A, Castori M. Micale L, et al. Genes (Basel). 2020 Dec 17;11(12):1513. doi: 10.3390/genes11121513. Genes (Basel). 2020. PMID: 33348901 Free PMC article.
Stickler syndrome (SS) is a hereditary connective tissue disorder affecting bones, eyes, and hearing. Type 2 SS and the SS variant otospondylomegaepiphyseal dysplasia (OSMED) are caused by deleterious variants in COL11A1 and COL11A2, respectively. ...We demon …
Stickler syndrome (SS) is a hereditary connective tissue disorder affecting bones, eyes, and hearing. Type 2 SS and the SS variant otospo …
Oto-spondylo-megaepiphyseal dysplasia (OSMED).
Giedion A, Brandner M, Lecannellier J, Muhar U, Prader A, Sulzer J, Zweymüller E. Giedion A, et al. Helv Paediatr Acta. 1982 Sep;37(4):361-80. Helv Paediatr Acta. 1982. PMID: 7153059
Four personal longitudinal observations and two cases from the literature are used to introduce the concept of oto-spondylo-megaepiphyseal dysplasia (OSMED). The condition may be recognized at birth. ...The diagnostic radiological findings are t …
Four personal longitudinal observations and two cases from the literature are used to introduce the concept of oto-spondylo- …
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