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Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.
Vorster AA, Beighton P, Ramesar RS. Vorster AA, et al. Clin Genet. 2015 May;87(5):492-5. doi: 10.1111/cge.12413. Epub 2014 May 22. Clin Genet. 2015. PMID: 24766538
Spondyloepimetaphyseal dysplasia with joint laxity (SEMD-JL), type 1 is an autosomal recessive disorder which has been identified in more than 30 affected children in the Afrikaans-speaking community of South Africa. ...
Spondyloepimetaphyseal dysplasia with joint laxity (SEMD-JL), type 1 is an autosomal recessive disorder w …
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.
Kim OH, Cho TJ, Song HR, Chung CY, Miyagawa S, Nishimura G, Superti-Furga A, Unger S. Kim OH, et al. Skeletal Radiol. 2009 Aug;38(8):803-11. doi: 10.1007/s00256-009-0671-4. Epub 2009 Mar 11. Skeletal Radiol. 2009. PMID: 19277648
OBJECTIVE: This study presents seven cases of a rare but distinctive form of spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic or Hall type to emphasize the characteristic clinical and radiological findings. ...
OBJECTIVE: This study presents seven cases of a rare but distinctive form of spondyloepimetaphyseal dysplasia with j …
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).
Tsirikos AI, Mason DE, Scott CI Jr, Chang WN. Tsirikos AI, et al. Am J Med Genet A. 2003 Jun 15;119A(3):386-90. doi: 10.1002/ajmg.a.20061. Am J Med Genet A. 2003. PMID: 12784311
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) is a distinctive form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment. ...
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) is a distinctive form of skeletal dysplasia c …
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G. Leoni C, et al. Am J Med Genet A. 2021 Oct;185(10):3153-3160. doi: 10.1002/ajmg.a.62399. Epub 2021 Jun 23. Am J Med Genet A. 2021. PMID: 34159694
Biallelic mutations in B3GALT6, coding for a galactosyltransferase involved in the synthesis of glycosaminoglycans (GAGs), have been associated with various clinical conditions, causing spondyloepimetaphyseal dysplasia with joint laxity type 1 ( …
Biallelic mutations in B3GALT6, coding for a galactosyltransferase involved in the synthesis of glycosaminoglycans (GAGs), have been associa …
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient.
Bradburn JM, Hall BD. Bradburn JM, et al. Am J Med Genet. 1995 Nov 6;59(2):234-7. doi: 10.1002/ajmg.1320590222. Am J Med Genet. 1995. PMID: 8588592
We report on a patient of Guatemalan descent whose physical and radiological findings are consistent with a diagnosis of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). This is a rare, autosomal recessive skeletal dysplasia with sho …
We report on a patient of Guatemalan descent whose physical and radiological findings are consistent with a diagnosis of spondyloepimetap …
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case.
Pina-Neto JM, Defino HL, Guedes ML, Jorge SM. Pina-Neto JM, et al. Am J Med Genet. 1996 Jan 11;61(2):131-3. doi: 10.1002/(SICI)1096-8628(19960111)61:2<131::AID-AJMG5>3.0.CO;2-#. Am J Med Genet. 1996. PMID: 8669438
This is a report on a Brazilian patient with spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; MIM 271640), a rare autosomal recessive skeletal dysplasia characterized by dwarfism, articular hypermobility, progressive intractable spina …
This is a report on a Brazilian patient with spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; …
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States.
Smith W, Ji HP, Mouradian W, Pagon RA. Smith W, et al. Am J Med Genet. 1999 Sep 17;86(3):245-52. Am J Med Genet. 1999. PMID: 10482874
This is a report of two North American patients with spondyloepimetaphyseal dysplasia with joint laxity, an uncommon autosomal recessive skeletal dysplasia rarely reported outside of South Africa. ...
This is a report of two North American patients with spondyloepimetaphyseal dysplasia with joint laxity, …
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review.
Sulko J, Kozlowski K. Sulko J, et al. J Pediatr Orthop B. 2008 Nov;17(6):323-7. doi: 10.1097/BPB.0b013e328311d357. J Pediatr Orthop B. 2008. PMID: 18841068
We have documented the clinical and radiological features of a girl with a severe form of spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type, which is associated with marked articular hypermobility. ...The radiographi …
We have documented the clinical and radiological features of a girl with a severe form of spondyloepimetaphyseal dysplasia …
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Caraffi SG, Maini I, Ivanovski I, Pollazzon M, Giangiobbe S, Valli M, Rossi A, Sassi S, Faccioli S, Rocco MD, Magnani C, Campos-Xavier B, Unger S, Superti-Furga A, Garavelli L. Caraffi SG, et al. Genes (Basel). 2019 Oct 12;10(10):799. doi: 10.3390/genes10100799. Genes (Basel). 2019. PMID: 31614862 Free PMC article.
12 results