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Metaphyseal chondrodysplasia, type Jansen.

作者信息

Kozlowski K, Campbell J B, Azouz M E, Sprague P

机构信息

Department of Radiology, Royal Alexandra Hospital for Children, Sydney, New South Wales, Australia.

出版信息

Australas Radiol. 1999 Nov;43(4):544-7. doi: 10.1046/j.1440-1673.1999.00729.x.

DOI:10.1046/j.1440-1673.1999.00729.x
PMID:10901979
Abstract

The Jansen type of metaphyseal dysplasia is a rare disorder with significant clinical and radiographic variability. Two cases of classical Jansen disease and one with some distinctive features suggestive of the Jansen variant are reported.

摘要

相似文献

1
Metaphyseal chondrodysplasia, type Jansen.
Australas Radiol. 1999 Nov;43(4):544-7. doi: 10.1046/j.1440-1673.1999.00729.x.
2
Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia.
Australas Radiol. 2005 Feb;49(1):57-62. doi: 10.1111/j.1440-1673.2005.01395.x.
3
The skull in metaphyseal chondrodysplasia type Jansen.詹森型干骺端软骨发育不良中的颅骨。
Pediatr Radiol. 1975 Jun 13;3(3):137-44. doi: 10.1007/BF01006898.
4
Jansen type of spondylometaphyseal dysplasia.
Skeletal Radiol. 2000 Apr;29(4):239-42. doi: 10.1007/s002560050601.
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Asphyxiating thoracic dysplasia as a complication of metaphyseal chondrodysplasia (Jansen type).窒息性胸廓发育不良作为干骺端软骨发育不良(詹森型)的一种并发症。
Birth Defects Orig Artic Ser. 1974;10(12):72-7.
6
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature.干骺端软骨发育异常,施密德型。临床及影像学描述并文献复习
Pediatr Radiol. 1988;18(2):93-102. doi: 10.1007/BF02387549.
7
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type.施密德型干骺端软骨发育不良:一种与“日本型”相同的脊椎干骺端发育不良。
Pediatr Radiol. 2000 Jul;30(7):460-3. doi: 10.1007/s002470000181.
8
Metaphyseal and spondylometaphyseal chondrodysplasias.
Clin Orthop Relat Res. 1976 Jan-Feb(114):83-93.
9
Spondylo-metaphyseal dysplasia corner fracture type (a cautionary tale).脊椎干骺端发育不良角状骨折型(一个警示故事)。
Radiol Med. 1993 Jan-Feb;85(1-2):7-11.
10
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.患者患有 Jansen 干骺端发育不良,其 PTH1R 中存在新的错义突变,其产前表现和产后演变。
Am J Med Genet A. 2013 Oct;161A(10):2614-9. doi: 10.1002/ajmg.a.36115. Epub 2013 Aug 15.

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因杂合性H223R-PTH1R突变导致的詹森干骺端软骨发育不良,伴或不伴明显高钙血症。
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A new acro-osteolysis syndrome caused by duplications including PTHLH.一种由包括甲状旁腺激素样激素(PTHLH)在内的重复序列引起的新型肢端骨质溶解综合征。
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