出典: meddic

Skeletal dysplasia

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  • A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space.
  • Iwata S1, Ito M1, Nakata T1, Noguchi Y1, Okuno T1, Ohkawara B1, Masuda A1, Goto T2, Adachi M3, Osaka H4, Nonaka R5, Arikawa-Hirasawa E5, Ohno K6.
  • Neuromuscular disorders : NMD.Neuromuscul Disord.2015 Aug;25(8):667-71. doi: 10.1016/j.nmd.2015.05.002. Epub 2015 May 8.
  • Schwartz-Jampel syndrome (SJS) type 1 is characterized by short stature, myotonia, and chondrodysplasia, and is caused by partial loss-of-function mutations in HSPG2 encoding perlecan. Six missense mutations have been reported in SJS to date and only one has been characterized using a recombinant pr
  • PMID 26031903
  • Kindlin-2 controls TGF-β signalling and Sox9 expression to regulate chondrogenesis.
  • Wu C1, Jiao H2, Lai Y2, Zheng W2, Chen K3, Qu H3, Deng W2, Song P2, Zhu K2, Cao H4, Galson DL5, Fan J6, Im HJ2, Liu Y7, Chen J7, Chen D2, Xiao G8.
  • Nature communications.Nat Commun.2015 Jul 7;6:7531. doi: 10.1038/ncomms8531.
  • The signals that control skeletogenesis are incompletely understood. Here we show that deleting Kindlin-2 in Prx1-expressing mesenchymal progenitors in mice causes neonatal lethality, chondrodysplasia and loss of the skull vault. Kindlin-2 ablation reduces chondrocyte density by decreasing cell prol
  • PMID 26151572
  • Severe Extracellular Matrix Abnormalities and Chondrodysplasia in Mice Lacking Collagen Prolyl 4-Hydroxylase Isoenzyme II in Combination with a Reduced Amount of Isoenzyme I.
  • Aro E1, Salo AM1, Khatri R2, Finnilä M3, Miinalainen I4, Sormunen R5, Pakkanen O1, Holster T1, Soininen R1, Prein C6, Clausen-Schaumann H7, Aszódi A8, Tuukkanen J3, Kivirikko KI1, Schipani E2, Myllyharju J9.
  • The Journal of biological chemistry.J Biol Chem.2015 Jul 3;290(27):16964-78. doi: 10.1074/jbc.M115.662635. Epub 2015 May 22.
  • Collagen prolyl 4-hydroxylases (C-P4H-I, C-P4H-II, and C-P4H-III) catalyze formation of 4-hydroxyproline residues required to form triple-helical collagen molecules. Vertebrate C-P4Hs are α2β2 tetramers differing in their catalytic α subunits. C-P4H-I is the major isoenzyme in most cells, and ina
  • PMID 26001784


  • 症例 Chondrodysplasia Punctata : Conradi-Hunermann-Happle Typeの1例
  • 大浪 薫,田畑 伸子,山田 雅明 [他]
  • 皮膚科の臨床 54(6), 871-876, 2012-06-00
  • NAID 40019346084
  • Skeletal analysis of the long bone abnormality (lbab/lbab) mouse, a novel chondrodysplastic C-type natriuretic peptide mutant.
  • Kondo Eri,Yasoda Akihiro,Tsuji Takehito,Fujii Toshihito,Miura Masako,Kanamoto Naotestu,Tamura Naohisa,Arai Hiroshi,Kunieda Tetsuo,Nakao Kazuwa
  • Calcified tissue international 90(4), 307-318, 2012-04-00
  • … These results demonstrate that lbab/lbab is a novel mouse model of chondrodysplasia caused by insufficient CNP action on endochondral ossification. …
  • NAID 120004057182
  • 生後より鼻閉,呼吸困難を呈した男児 (特集 症例に学ぶ--小児放射線カンファレンス) -- (頭頸部)


chondrodysplasia [kon″dro-dis-pla´zhah] enchondromatosis. chondrodysplasia puncta´ta a heterogeneous group of bone dysplasias, the common characteristic of which is stippling of the epiphyses in infancy. The group includes a ...
Chondrodysplasia definition at, a free online dictionary with pronunciation, synonyms and translation. Look it up now! Thesaurus Translate Puzzles & Games Word of the Day Blog Slideshows Apps by Dictionary ...


Rhizomelic Chondrodysplasia Punctata With  size version of Chondrodysplasia punctata chondrodysplasia and to outline itsChondrodysplasia (Ch'd)Chondrodysplasia punctata, rhizomelic Chondrodysplasia Punctata

拡張検索achondrodysplasia」「rhizomelic chondrodysplasia punctata」「chondrodysplasia punctata」「metaphyseal chondrodysplasia McKusick type



  • 軟骨形成不全の

WordNet   license wordnet

「of or relating to achondroplasia」






骨軟骨異形成症 osteochondrodysplasia



rhizomelic chondrodysplasia punctata」




chondrodysplasia punctata」

  [★] 点状軟骨異形成症

Conradi-Hunermann syndrome

metaphyseal chondrodysplasia McKusick type」

  [★] 骨幹端軟骨異形成症マクージック型