Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 1
1984 1
1991 1
1993 1
1995 1
1997 1
2002 1
2003 1
2005 1
2006 1
2007 1
2009 1
2011 1
2013 1
2014 3
2015 4
2016 3
2017 4
2018 4
2019 3
2021 2
2022 2
2023 1
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

35 results

Results by year

Filters applied: . Clear all
Page 1
Spondylometepiphyseal dysplasia, Strudwick type.
Anderson CE, Sillence DO, Lachman RS, Toomey K, Bull M, Dorst J, Rimoin DL. Anderson CE, et al. Am J Med Genet. 1982 Nov;13(3):243-56. doi: 10.1002/ajmg.1320130304. Am J Med Genet. 1982. PMID: 6817637
The clinical and radiographic observations in eight patients, radiographs on an additional six patients, and morphologic observations on chondro-osseous tissue from two of these 14 patients form the basis for delineating an entity distinct from the heterogeneous group of skeletal …
The clinical and radiographic observations in eight patients, radiographs on an additional six patients, and morphologic observations on cho …
Sedaghatian spondylometaphyseal dysplasia in two siblings.
Peshimam N, Farah H, Caswell R, Ellard S, Jan W, Calder AD, Cobben J, Kariholu U, Leitch HG. Peshimam N, et al. Eur J Med Genet. 2022 Aug;65(8):104541. doi: 10.1016/j.ejmg.2022.104541. Epub 2022 Jun 16. Eur J Med Genet. 2022. PMID: 35718083 Free article.
Sedaghatian type spondylometaphyseal dysplasia (SSMD) is a rare skeletal dysplasia with only 24 reported cases to date. ...
Sedaghatian type spondylometaphyseal dysplasia (SSMD) is a rare skeletal dysplasia with only 24 reported cases to date. ...
Type II Collagen Disorders Overview.
Gregersen PA, Savarirayan R. Gregersen PA, et al. 2019 Apr 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 Apr 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 31021589 Free Books & Documents. Review.
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 lesions, and m …
Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dyspl …
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) Strudwic …
Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia that has currently been classified into the group of spondylometaphyse …
Spondylometepiphyseal dysplasia congenita, Strudwick type.
Shebib SM, Chudley AE, Reed MH. Shebib SM, et al. Pediatr Radiol. 1991;21(4):298-300. doi: 10.1007/BF02018630. Pediatr Radiol. 1991. PMID: 1870932
A case of spondylometepiphyseal dysplasia congenita, Strudwick type is presented. At birth, this condition cannot be distinguished from spondyloepiphyseal dysplasia congenita. ...
A case of spondylometepiphyseal dysplasia congenita, Strudwick type is presented. At birth, this condition cannot be distingui …
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), achondro …
A clinical spectrum of chondrodysplasia phenotypes, ranging from mild to perinatal lethal, is due to defects in the gene for type II collage …
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. ...RESULTS: A 13-year-old pa …
PURPOSE: To document the diagnosis and repair of bilateral retinal detachments in a child with spondyloepimetaphyseal dysplasia-St …
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 spectrum and …
BACKGROUND: Spondyloepimetaphyseal dysplasia (SEMD) is one of a clinically heterogeneous group of skeletal disorders, characterized b …
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. The orthopaedic manifestations of patients can be hypoplastic odontoid peg …
Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type is a rare autosomal dominant condition arising from defects in COL2A1 t …
35 results

Searches related to "dysplasia strudwick"