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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network; Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Burrage LC, et al. Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14. Am J Hum Genet. 2019. PMID: 30773277 Free PMC article.
SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. ...Although an autosomal- …
SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalit …
SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature.
Cooper HA, Crowe J, Butler MG. Cooper HA, et al. Am J Med Genet. 2000 May 1;92(1):33-9. doi: 10.1002/(sici)1096-8628(20000501)92:1<33::aid-ajmg6>3.0.co;2-u. Am J Med Genet. 2000. PMID: 10797420 Free PMC article. Review.
We report on an 11-year-old boy with features consistent with SPONASTRIME dysplasia. Height was 106.1 cm (-6 SD). He had a coarse appearing face with a depressed nasal bridge, short, upturned nose, and midface hypoplasia. ...These findings were most consistent with …
We report on an 11-year-old boy with features consistent with SPONASTRIME dysplasia. Height was 106.1 cm (-6 SD). He had a coa …
Sponastrime dysplasia: five new cases and review of nine previously published cases.
Langer LO Jr, Beals RK, LaFranchi S, Scott CI Jr, Sockalosky JJ. Langer LO Jr, et al. Am J Med Genet. 1996 May 3;63(1):20-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<20::AID-AJMG7>3.0.CO;2-W. Am J Med Genet. 1996. PMID: 8723082 Review.
Sponastrime dysplasia (SD) is a dwarfing autosomal recessive short-limb bone dysplasia. ...
Sponastrime dysplasia (SD) is a dwarfing autosomal recessive short-limb bone dysplasia. ...
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.
Gripp KW, Johnson C, Scott CI Jr, Nicholson L, Bober M, Butler MG, Shaw L, Gorlin RJ. Gripp KW, et al. Am J Med Genet A. 2008 Feb 15;146A(4):468-73. doi: 10.1002/ajmg.a.32155. Am J Med Genet A. 2008. PMID: 18203204 Free PMC article. Review.
SPONASTRIME dysplasia (SD) is an autosomal recessive skeletal dysplasia of the spondyloepimetaphyseal dysplasia (SEMD) type. ...
SPONASTRIME dysplasia (SD) is an autosomal recessive skeletal dysplasia of the spondyloepimetaphyseal dysplasia (SEMD) type. . …
Sponastrime dysplasia: diagnostic criteria based on five new and six previously published cases.
Langer LO Jr, Beals RK, Scott CI Jr. Langer LO Jr, et al. Pediatr Radiol. 1997 May;27(5):409-14. doi: 10.1007/s002470050157. Pediatr Radiol. 1997. PMID: 9133352
Sponastrime dysplasia is a dwarfing autosomal recessive bone dysplasia, the diagnosis of which is based on a combination of clinical and radiological features. ...
Sponastrime dysplasia is a dwarfing autosomal recessive bone dysplasia, the diagnosis of which is based on a combination of cl …
Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report.
Jeong JH, Lee AL, Cho SY, Jin DK, Im SB. Jeong JH, et al. Medicine (Baltimore). 2016 May;95(18):e3155. doi: 10.1097/MD.0000000000003155. Medicine (Baltimore). 2016. PMID: 27149441 Free PMC article.
SPOndylar and NAsal changes, with STRIations of the Metaphyses (SPONASTRIME) dysplasia (SD) is a dwarfing autosomal recessive syndrome, characterized by a variety of clinical and radiographic features, which form the basis for diagnosis. ...
SPOndylar and NAsal changes, with STRIations of the Metaphyses (SPONASTRIME) dysplasia (SD) is a dwarfing autosomal recessive …
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
The radiographic differential diagnosis is with the group of spondyloepimetaphyseal dysplasias specifically spondyloepimetaphyseal dysplasia with joint laxity and sponastrime dysplasia....
The radiographic differential diagnosis is with the group of spondyloepimetaphyseal dysplasias specifically spondyloepimetaphyseal dysplasia …