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The severe recessive form of pseudoachondroplastic dysplasia.

作者信息

Dennis N R, Renton P

出版信息

Pediatr Radiol. 1975 Jun 13;3(3):169-75. doi: 10.1007/BF01006905.

DOI:10.1007/BF01006905
PMID:1233433
Abstract

Genetic and clinical heterogeneity within the category of pseudoachondroplastic dysplasia is discussed. Clinical and radiological findings are presented in a family where 4 out of 7 siblings, aged between 3 and 10 years, had a severe form of the condition. The parents had short stature without any signs of pseudoachondroplastic dysplasia. Inheritance in this family appears to be recessive, with a possibility that the abnormal allele may be partially manifest in heterozygotes.

摘要

相似文献

1
The severe recessive form of pseudoachondroplastic dysplasia.
Pediatr Radiol. 1975 Jun 13;3(3):169-75. doi: 10.1007/BF01006905.
2
Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.两名患有软骨发育不全和假性软骨发育不全双重杂合子的同胞。
J Med Genet. 1994 Jul;31(7):565-9. doi: 10.1136/jmg.31.7.565.
3
[A dominant form of pseudoachondroplastic dysplasia. A familial case (author's transl)].[假性软骨发育不全性发育异常的一种显性形式。1例家族性病例(作者译)]
Presse Med (1893). 1979 Dec 10;8(48):3961-3.
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Pseudoachondroplastic dysplasia: five cases representing clinical, roentgenographic and histologic heterogeneity.假性软骨发育不全性发育异常:5例临床、X线及组织学表现各异的病例
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Pseudoachondroplasia, a report of 13 cases.假性软骨发育不全:13例报告
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引用本文的文献

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Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.假性软骨发育不全症和多发性骨骺发育不良:对已知疾病基因的 7 年综合分析确定了新的和反复出现的突变,并对其相对贡献进行了准确评估。
Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31.
2
Severe pseudoachondroplasia with parental consanguinity.伴有父母近亲结婚的严重假性软骨发育不全
J Med Genet. 1985 Apr;22(2):150-3. doi: 10.1136/jmg.22.2.150.
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Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds).

本文引用的文献

1
Spondylo-epiphyseal dysplasia (pseudo-achondroplastic type).脊椎骨骺发育不良(假性软骨发育不全型)。
Am J Roentgenol Radium Ther Nucl Med. 1961 Sep;86:462-72.
2
[Pseudo-achondroplastic forms of spondylo-epiphyseal dysplasias].[脊椎骨骺发育不良的假性软骨发育不全形式]
Presse Med (1893). 1959 Feb 25;67(10):383-6.
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Possible genetic carriers in the spherophakia-brachymorphia syndrome.球形晶状体-短指畸形综合征中可能的基因携带者。
假性软骨发育不全:不同年龄的临床诊断及常染色体显性与隐性类型的比较。32例患者(26个家族)的回顾分析
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4
Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.某些遗传性软骨发育不良中II型胶原基因(COL2A1)的结构与分离分析
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Achondroplasia--a genetic and statistical survey.软骨发育不全——一项遗传学与统计学调查。
Ann Hum Genet. 1970 Jan;33(3):227-44. doi: 10.1111/j.1469-1809.1970.tb01648.x.
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6
Pseudo-achondroplastic type of spondyloepiphyseal dysplasia (type Maroteaux-Lamy).
Proc R Soc Med. 1968 Dec 12;61(12):1262-3. doi: 10.1177/003591576806101207.
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[Spondyloepiphyseal dysplasia of a pseudoachondroplastic type].
Rev Clin Esp. 1965 Apr 30;97(2):118-21.
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[Pseudo-achondroplastic dysplasia. Apropos of a case].
Ann Pediatr (Paris). 1972 Dec 2;19(12):897-903.
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Pseudoachondroplastic dwarfism. A rough-surfaced endoplasmic reticulum storage disorder.假性软骨发育不全性侏儒症。一种糙面内质网贮积症。
J Bone Joint Surg Am. 1973 Apr;55(3):475-84.
10
[Pseudoachondroplastic form of spondylo-epiphyseal dysplasia].
Fortschr Geb Rontgenstr Nuklearmed. 1970 Nov;113(5):589-96.