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Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC. Machol K, et al. Am J Med Genet A. 2017 Mar;173(3):733-739. doi: 10.1002/ajmg.a.38059. Epub 2016 Nov 26. Am J Med Genet A. 2017. PMID: 27888646 Free PMC article.
Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like …
Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare ske …
Bilateral rhegmatogenous retinal detachment in spondyloepimetaphyseal dysplasia-Strudwick type.
Szigiato AA, Hillier RJ, Muni RH. Szigiato AA, et al. Retin Cases Brief Rep. 2015 Winter;9(1):51-4. doi: 10.1097/ICB.0000000000000079. Retin Cases Brief Rep. 2015. PMID: 25383842
PURPOSE: To document the diagnosis and repair of bilateral retinal detachments in a child with spondyloepimetaphyseal dysplasia-Strudwick type, a rare autosomal dominant genetic disorder involving abnormal production of Type II collagen. ...RESU …
PURPOSE: To document the diagnosis and repair of bilateral retinal detachments in a child with spondyloepimetaphyseal dysplasia …
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR. Tiller GE, et al. Nat Genet. 1995 Sep;11(1):87-9. doi: 10.1038/ng0995-87. Nat Genet. 1995. PMID: 7550321
A clinical spectrum of chondrodysplasia phenotypes, ranging from mild to perinatal lethal, is due to defects in the gene for type II collagen, COL2A1. This spectrum includes Stickler syndrome, Kniest dysplasia, spondyloepiphyseal dysplasia congenita (SEDC), a …
A clinical spectrum of chondrodysplasia phenotypes, ranging from mild to perinatal lethal, is due to defects in the gene for type II …
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
Merrick B, Calder A, Wakeling E. Merrick B, et al. Am J Med Genet A. 2015 Dec;167A(12):3103-7. doi: 10.1002/ajmg.a.37282. Epub 2015 Aug 6. Am J Med Genet A. 2015. PMID: 26250472
Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia characterized by enchondroma-like lesions and anisospondyly. The former leads to discrepancies in limb length, and the latter, to progressive kyphoscoliosis. ...This may have important clinical implications, fo …
Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia characterized by enchondroma-like lesions and anisospondyly. The forme …
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type.
Amirfeyz R, Taylor A, Smithson SF, Gargan MF. Amirfeyz R, et al. J Pediatr Orthop B. 2006 Jan;15(1):41-4. doi: 10.1097/01202412-200601000-00009. J Pediatr Orthop B. 2006. PMID: 16280719
Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type is a rare autosomal dominant condition arising from defects in COL2A1 the genes responsible for the biosynthesis of procollagen type II. ...We report a mother and daughter with SEMD Strud …
Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type is a rare autosomal dominant condition arising from defec …
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, López-Otín C, Sánchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV. Kennedy AM, et al. J Clin Invest. 2005 Oct;115(10):2832-42. doi: 10.1172/JCI22900. J Clin Invest. 2005. PMID: 16167086 Free PMC article.
We show that a missense mutation of MMP13 causes the Missouri type of human spondyloepimetaphyseal dysplasia (SEMD(MO)), an autosomal dominant disorder characterized by defective growth and modeling of vertebrae and long bones. ...Among these, MMP13 represent …
We show that a missense mutation of MMP13 causes the Missouri type of human spondyloepimetaphyseal dysplasia (SEMD(MO)) …
Type II Collagen Disorders Overview.
Gregersen PA, Savarirayan R. Gregersen PA, et al. 2019 Apr 25 [updated 2024 Oct 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 Apr 25 [updated 2024 Oct 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 31021589 Free Books & Documents. Review.
Describe the clinical characteristics of type II collagen disorders; 2.. Provide an evaluation strategy to identify the genetic cause of a type II collagen disorder in a proband; 3.. Review the differential diagnosis of type II collagen disorders with a focus …
Describe the clinical characteristics of type II collagen disorders; 2.. Provide an evaluation strategy to identify the genetic cause …
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
Tysoe C, Saunders J, White L, Hills N, Nicol M, Evans G, Cole T, Chapman S, Pope FM. Tysoe C, et al. QJM. 2003 Sep;96(9):663-71. doi: 10.1093/qjmed/hcg112. QJM. 2003. PMID: 12925722
BACKGROUND: Spondyloepimetaphyseal dysplasia (SEMD) is one of a clinically heterogeneous group of skeletal disorders, characterized by defective growth and modelling of the spine and long bones. ...Our sixth helical glycine substitution extends the mutational spectr …
BACKGROUND: Spondyloepimetaphyseal dysplasia (SEMD) is one of a clinically heterogeneous group of skeletal disorders, characte …
Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?
Nakane T, Tando T, Aoyagi K, Hatakeyama K, Nishimura G, Coucke IP, Mortier G, Sugita K. Nakane T, et al. Mol Syndromol. 2011 Dec;2(1):21-26. doi: 10.1159/000333098. Epub 2011 Oct 18. Mol Syndromol. 2011. PMID: 22570642 Free PMC article.
Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia that has currently been classified into the group of spondylometaphyseal dysplasias. ...Interestingly, some of the skeletal changes overlap with spondyloepimetaphyseal dysplasia (SEMD) S …
Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia that has currently been classified into the group of spondylometaphyse …
Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
Gertner JM, Whyte MP, Dixon PH, Pang JT, Trump D, Pearce SH, Wooding C, Thakker RV. Gertner JM, et al. J Bone Miner Res. 1997 Aug;12(8):1204-9. doi: 10.1359/jbmr.1997.12.8.1204. J Bone Miner Res. 1997. PMID: 9258750 Free article.
A four-generation kindred (14 affected and 10 unaffected members) from Missouri, U.S.A. in which spondyloepimetaphyseal dysplasia (SEMD) had been inherited as an autosomal dominant disorder was investigated for linkage to 13 candidate loci: COL2AI, COL9AI, COL9A2, C …
A four-generation kindred (14 affected and 10 unaffected members) from Missouri, U.S.A. in which spondyloepimetaphyseal dysplasia …
13 results