マーデルング変形
WordNet
- an affliction in which some part of the body is misshapen or malformed (同)malformation, misshapenness
PrepTutorEJDIC
- 〈U〉(身体の)奇形,変形,不具;醜さ / 〈C〉(身体の)奇形部 / 〈C〉(…の)欠陥
UpToDate Contents
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English Journal
- A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.
- Alvarez-Mora MI, Madrigal I, Rodriguez-Revenga L, Mur A, Calvo D, Pascual I Bardají J, Milà M.SourceBiochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, Barcelona, Spain.
- Journal of clinical pathology.J Clin Pathol.2012 Sep;65(9):844-6. doi: 10.1136/jclinpath-2011-200626. Epub 2012 Mar 29.
- Idiopathic short stature is a multifactorial disease caused by defects in several genes. Among them, short stature homeobox-containing gene (SHOX) mutations have an incidence of 2%-15% within the idiopathic short population. The authors report a patient with moderate intellectual disability, short s
- PMID 22461651
- The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th, 2011).
- De Sanctis V, Tosetto I, Iughetti L, Antoniazzi F, Clementi M, Toffolutti T, Facchin P, Monti E, Pisanello L, Tonini G, Greggio NA.SourcePediatric and Adolescent Outpatient Clinic, Quisisana Hospital Ferrara - Italy.
- Pediatric endocrinology reviews : PER.Pediatr Endocrinol Rev.2012 Aug;9(4):727-33.
- The growth of the human body depends from a complex interaction between nutritional, environmental and hormonal factors and by a large number of different genes. One of these genes, short stature homeobox (SHOX), is believed to play a major role in growth. SHOX haploinsufficiency is associated with
- PMID 23304810
- [A spontaneous bilateral deformity of the wrists].
- Francès P, Kluger N.SourceCabinet de médecine générale, 1 rue Saint-Jean-Baptiste, Banyuls sur mer, France. frances.pierre@wanadoo.fr
- La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne.Rev Med Interne.2012 Aug;33(8):461-2. doi: 10.1016/j.revmed.2011.11.013. Epub 2011 Dec 30.
- PMID 22209467
Japanese Journal
- Different Skeletal Phenotypes in a Mother and Two Daughters with Short Stature Homeobox-Containing Haploinsufficiency
- Nagasaki Keisuke,Kikuchi Toru,Uchiyama Makoto
- Clinical pediatric endocrinology 16(3), 69-74, 2007-07
- NAID 110006794346
- 症例 伸筋腱皮下断裂をきたしたMadelung変形の1例
Related Links
- Madelung deformity (MD) of the wrist is characterized by a growth disturbance in the volar-ulnar distal radial physis that results in a volar and ulnar tilted distal radial articular surface, volar translation of the hand and wrist, and a dorsally prominent distal ulna. It occurs predominantly in ...
- Madelung’s deformity is an abnormality of the wrist caused by a growth disturbance tof the ulnar and volar portions of the distal radial physis. ... In Madelung deformity, this dome becomes peaked, its apex resting on the lunate bone.
- In-Depth At Boston Children’s Hospital, the skilled surgeons in our Orthopedic Center have developed innovative surgical treatments for children with all degrees of severity of Madelung deformity. What is Madelung deformity?
★リンクテーブル★
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- 英
- Madelung deformity, Madelung's deformity
- 同
- Madelung様変形
- 関
- [[]]
概念
- 先天性の関節変形
- 両側の手関節に生じる
- 橈骨遠位端尺側の骨端軟骨の早期閉鎖により生じる
疫学
- 若年、女性に多い
- 6歳から思春期に発症 (SOR.277)
症状
身体診察
- 手関節：可動制限。手関節背屈、前腕回外が障害される。
検査
- 単純X線写真：橈骨遠位骨端線の早期閉鎖、橈骨遠位関節面の傾斜の増強、橈骨彎曲、尺骨遠位端の背側脱臼、手根骨の逆三角形変形 (SOR.277)
治療
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- 形態の異常さ、奇形のもの。(医)(肢体の)変形部、奇形部。醜さ。不行跡、腐敗。疎ましさ、おぞましさ