[干骺端软骨发育异常（干骺端发育不全）——一种新型？] - Suppr

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超能文献

[Metaphyseal chondrodysplasia (metaphyseal dysostosis)--a new type?].

作者信息

Wiedemann H R, Spranger J

出版信息

Z Kinderheilkd. 1970;108(2):171-86.

PMID:4252978

Abstract

摘要

相似文献

[Metaphyseal chondrodysplasia (metaphyseal dysostosis)--a new type?].[干骺端软骨发育异常（干骺端发育不全）——一种新型？]

Z Kinderheilkd. 1970;108(2):171-86.

Spondylo-megaepiphyseal-metaphyseal dysplasia: a new bone dysplasia resembling cleidocranial dysplasia.脊椎-大骨骺-干骺端发育不良：一种类似锁骨颅骨发育不良的新型骨发育不良。

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A case with spondylo-metaphyseal dysplasia type A4.

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Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia.

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Metaphyseal and spondylometaphyseal chondrodysplasias.

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Jansen's metaphyseal chondrodysplasia.詹森干骺端软骨发育不良

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Metaphyseal dysostosis, conductive hearing loss and mental retardation: a recessively inherited syndrome.

Birth Defects Orig Artic Ser. 1971 Mar;07(4):116-22.

Schmid-like metaphyseal chondrodysplasia simulating child abuse.类似施密德型干骺端软骨发育不良，疑似虐待儿童。

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Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia.

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Metaphyseal chondrodysplasia, McKusick type (cartilage hair hypoplasia).干骺端软骨发育不良，麦库西克型（软骨毛发发育不全）。

Birth Defects Orig Artic Ser. 1974;10(12):422-4.

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Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.一名患有干骺端发育异常儿童的佝偻病表现，一例自然缓解病例报告。

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An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.一种继发于核纤层蛋白B受体（LBR）基因突变的类短肢发育异常、可自发缓解的脊椎干骺端发育不良：LBR骨发育不良表型异质性的进一步界定

Am J Med Genet A. 2015 Jan;167A(1):159-63. doi: 10.1002/ajmg.a.36808. Epub 2014 Oct 27.

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.外显子组测序揭示基质金属蛋白酶13中的一个无义突变是常染色体隐性遗传性干骺端发育不良的一个新病因。

Eur J Hum Genet. 2015 Feb;23(2):264-6. doi: 10.1038/ejhg.2014.76. Epub 2014 Apr 30.

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.基质金属蛋白酶9（MMP9）和基质金属蛋白酶13（MMP13）的突变决定了干骺端发育异常的遗传模式和临床谱。

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Japanese type of spondylo-metaphyseal dysplasia.

Pediatr Radiol. 1994;24(3):194-7. doi: 10.1007/BF02012189.

Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias.先天性全身性骨骼发育不良范围内的软骨发育不全

Z Kinderheilkd. 1974;116(4):223-51. doi: 10.1007/BF00436949.

Unusual bone dysplasia featuring severe platyspondyly and vertebral "coronal cleft" in infancy, and changes of metaphyseal chondrodysplasia in childhood.一种罕见的骨发育异常，表现为婴儿期严重扁平椎和椎体“冠状裂”，以及儿童期干骺端软骨发育异常改变。

Pediatr Radiol. 1986;16(5):433-6. doi: 10.1007/BF02386830.

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.

Metaphyseal chondrodysplasia.干骺端软骨发育异常

Postgrad Med J. 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480.

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