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Another observation of Langer-type sponastrime dysplasia variant.

作者信息

Nishimura G, Mikawa M, Fukushima Y

出版信息

Am J Med Genet. 1998 Nov 16;80(3):288-90.

PMID:9843056
Abstract
摘要

相似文献

1
Another observation of Langer-type sponastrime dysplasia variant.朗格型脊柱骨骺发育不良变异型的另一观察结果。
Am J Med Genet. 1998 Nov 16;80(3):288-90.
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Sponastrime dysplasia: diagnostic criteria based on five new and six previously published cases.
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Sponastrime dysplasia: report on a male patient.
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Sponastrime dysplasia: report on two siblings with metal retardation.
Pediatr Radiol. 1993;23(8):611-4. doi: 10.1007/BF02014981.
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SPONASTRIME dysplasia: report on a female patient with severe skeletal changes.
Am J Med Genet. 1996 Dec 30;66(4):429-32. doi: 10.1002/(SICI)1096-8628(19961230)66:4<429::AID-AJMG8>3.0.CO;2-F.
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The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings.
Helv Paediatr Acta. 1983 Aug;38(3):267-80.
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Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation.
Clin Dysmorphol. 1995 Jul;4(3):208-15.
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Variability of spondylo-metaphyseal dysplasia, common type.
Radiol Diagn (Berl). 1980;21(5):682-6.
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Metaphyseal dysplasia in siblings: a variant of cartilage-hair hypoplasia.同胞中的干骺端发育异常：软骨-毛发发育不全的一种变异型。
Proc R Soc Med. 1972 Aug;65(8):727. doi: 10.1177/003591577206500829.
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Dysplasia epiphysealis hemimelica of the ulna.
Br J Radiol. 1987 Mar;60(711):288-90. doi: 10.1259/0007-1285-60-711-288.

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Hum Mol Genet. 2025 Sep 19;34(19):1665-1673. doi: 10.1093/hmg/ddaf128.
2
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.TONSL 中的功能缺失突变导致 SPONASTRIME 发育不良。
Am J Hum Genet. 2019 Mar 7;104(3):439-453. doi: 10.1016/j.ajhg.2019.01.009. Epub 2019 Feb 14.
3
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.TONSL 中的双等位基因突变导致 SPONASTRIME 发育不良和一系列骨骼发育不良表型。
Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.
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Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report.阿诺德-奇阿里畸形合并脊椎骨骺发育不良（脊椎和鼻骨改变，伴有干骺端条纹）：一例报告
Medicine (Baltimore). 2016 May;95(18):e3155. doi: 10.1097/MD.0000000000003155.
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Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.伴关节松弛的脊椎骨骺发育不良，细长指型：一名KIF22突变杂合子儿童的影像学表现纵向观察
Pediatr Radiol. 2015 Apr;45(5):771-6. doi: 10.1007/s00247-014-3159-x. Epub 2014 Sep 26.
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SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature.SPONASTRIME发育异常：一名11岁男孩的病例报告及文献综述
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.