致死性四肢短縮型低身長症
WordNet
- without possessing something at the time it is contractually sold; "he made his fortune by selling short just before the crash"
- the location on a baseball field where the shortstop is stationed
- low in stature; not tall; "he was short and stocky"; "short in stature"; "a short smokestack"; "a little man" (同)little
- lacking foresight or scope; "a short view of the problem"; "shortsighted policies"; "shortsighted critics derided the plan"; "myopic thinking" (同)shortsighted, unforesightful, myopic
- at a disadvantage; "I was caught short" (同)unawares
- (primarily spatial sense) having little length or lacking in length; "short skirts"; "short hair"; "the board was a foot short"; "a short toss"
- at some point or distance before a goal is reached; "he fell short of our expectations"
- clean across; "the cars axle snapped short"
- not holding securities or commodities that one sells in expectation of a fall in prices; "a short sale"; "short in cotton"
- of speech sounds or syllables of relatively short duration; "the English vowel sounds in `pat, `pet, `pit, `pot, putt are short"
- primarily temporal sense; indicating or being or seeming to be limited in duration; "a short life"; "a short flight"; "a short holiday"; "a short story"; "only a few short months"
- so as to interrupt; "She took him up short before he could continue"
- tending to crumble or break into flakes due to a large amount of shortening; "shortbread is a short crumbly cookie"; "a short flaky pie crust"
- any of the main branches arising from the trunk or a bough of a tree (同)tree branch
- either of the two halves of a bow from handle to tip; "the upper limb of the bow"
- the graduated arc that is attached to an instrument for measuring angles; "the limb of the sextant"
- (astronomy) the circumferential edge of the apparent disc of the sun or the moon or a planet
- one of the jointed appendages of an animal used for locomotion or grasping: arm; leg; wing; flipper
- having or as if having limbs, especially limbs of a specified kind (usually used in combination); "strong-limbed"
PrepTutorEJDIC
- (長さ・時間・距離などが)『短い』,近い・(人が)『背が低い』・(数量・期間などが)不足の』,乏しい;目標(標準)に達しない・(文などが)『簡潔な』,手短な・『そっけない』,ぞんぞいな,無愛想な・(ケーキなどが)かりかりする,さくさくする・(母音・音節が)短い;(詩の行の母音が)強勢のない・急に,突然・短いもの;欠けているもの・短篇映画(short movie, short subject) ・=short circuit・《複数形で》不足,欠損 / …‘を'短絡させる,ショートさせる / 短絡する,ショートする
- (動物の)『手足』;(鳥の)翼 / (木の)大枝
- 死をもたらす,致死の;死をもたらす目的の
- 半ズボン,ショートパンツ / 《おもに米》(男物下着の)パンツ
UpToDate Contents
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English Journal
- Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
- Lindy AS1, Basehore MJ2, Munisha M3, Williams AL3, Friez MJ2, Writzl K4, Willems P5, Dougan ST3.
- American journal of medical genetics. Part A.Am J Med Genet A.2016 Jun;170(6):1573-9. doi: 10.1002/ajmg.a.37609. Epub 2016 Mar 30.
- PMID 27028100
- Thanatophoric dysplasia: A review.
- Wainwright H1.
- South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.S Afr Med J.2016 May 25;106(6 Suppl 1):S50-3. doi: 10.7196/SAMJ.2016.v106i6.10993.
- PMID 27245526
- Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.
- Jeon GW1, Lee MN2, Jung JM1, Hong SY3, Kim YN4, Sin JB1, Ki CS2.
- Annals of laboratory medicine.Ann Lab Med.2014 Mar;34(2):134-8. doi: 10.3343/alm.2014.34.2.134. Epub 2014 Feb 13.
- PMID 24624349
Japanese Journal
- [症例報告]Pulmonary Hypoplasia and Chondrocyte p21^<CIP1> Expression in Patients with Lethal Short-limbed Dwarfism
- 両下腿以下の過外旋を伴った致死性四肢短縮症(Thanatophoric dysplasia)の1例
Related Links
- Lethal short-limbed dwarfism. Edwards JA, Bannerman RM, Vasilion P, Potter MG Jr. PMID: 4461059 [Indexed for MEDLINE] MeSH terms Autopsy Bone and Bones/pathology Dwarfism/classification* Dwarfism/diagnostic imaging
- VOL. III, No. I i8 LETHAL SHORT-LIMBED DWARFISM: ACHONDRO-GENESIS AND THANATOPHORIC DWARFISM* ByRONALD M.SALDINO, M.I). SANFRANCISCO, CAl.!FORNIA CHONDROGENESIS anti thanato- phonic
- 1. Am J Roentgenol Radium Ther Nucl Med. 1971 May;112(1):185-97. Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. Saldino RM. PMID: 5582025 [PubMed - indexed for MEDLINE] MeSH Terms
★リンクテーブル★
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- 英
- lethal short-limbed dwarfism
- 関
- 致死性四肢短縮型低身長症、四肢短縮症
[★]
- 英
- lethal short-limbed dwarfism
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- (比較級shorter-最上級shortest)短い、不足した、乏しい、省略された
- 関
- abbreviated、brevis、brief、dearth、deficit、in short、insufficiency、insufficient、lack、paucity、poor、scant、scanty、scarce、scarcity、shortage、shortness
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- 関
- deadly、fatal、fatally、lethally、mortal、vital
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- 関
- extremities