marfanoid hypermobility syndrome

マルファン様過剰運動性症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 関節過剰可動性症候群 joint hypermobility syndrome
• 2. エーラス・ダンロス症候群の臨床症状および診断 clinical manifestations and diagnosis of ehlers danlos syndromes
• 3. マルファン症候群および関連疾患の遺伝学、臨床的特徴、および診断 genetics clinical features and diagnosis of marfan syndrome and related disorders
• 4. エーラース・ダンロス症候群のマネージメントの概要 overview of the management of ehlers danlos syndromes
• 5. 小児および思春期のアスリートにおける脊椎分離症および脊椎すべり症：マネージメント spondylolysis and spondylolisthesis in child and adolescent athletes management

English Journal

• Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly.

• Paulson ML1, Olivier KN, Holland SM.
• The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease.Int J Tuberc Lung Dis.2012 Apr;16(4):561-3. doi: 10.5588/ijtld.11.0301.
• Congenital contractural arachnodactyly (CCA) is caused by mutations within the fibrillin-2 gene (FBN2), which is crucial for microfibril structure. Affected individuals may have contractures, chest wall deformities, scoliosis, abnormal ear folding and elongated limbs. We describe a novel FBN2 mutati
• PMID 22325249

• Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome.

• Shimojima K1, Okanishi T, Yamamoto T.
• American journal of medical genetics. Part A.Am J Med Genet A.2011 Sep;155A(9):2293-7. doi: 10.1002/ajmg.a.34164. Epub 2011 Aug 10.
• Sotos syndrome is a rare genetic disorder characterized by overgrowth associated with macrocephaly and delayed psychomotor development. Patients with Sotos syndrome show 5q35 deletions involving NSD1 or its point mutations. We identified the common 5q35 deletion in a patient with atypical Sotos synd
• PMID 21834033

• Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1].

• Arslan-Kirchner M1, Arbustini E, Boileau C, Child A, Collod-Beroud G, De Paepe A, Epplen J, Jondeau G, Loeys B, Faivre L.
• European journal of human genetics : EJHG.Eur J Hum Genet.2010 Sep;18(9). doi: 10.1038/ejhg.2010.42. Epub 2010 Apr 7.
• PMID 20372188

Japanese Journal

• 先天性コラ-ゲン代謝異常症--Ehlers-Danlos Syndrome2変異種とMarfanoid hypermobility Syndrome1変種の生化学的病因論 (結合組織病の基礎と臨床<特集>)

• 桃井 宏直
• 東京医学 82(5・6), p432-444, 1974-12
• NAID 40002579397

• Marfanoid hypermobility syndromeの多発した一家系

• 元吉 和夫 [他],桃井 宏直,三上 理一郎,小坂 樹徳
• 日本内科学会雑誌 62(3), 267-273, 1973
• NAID 130000889583

Related Links

• Marfanoid hypermobility syndrome - RightDiagnosis.com

Marfanoid hypermobility syndrome symptoms, causes, diagnosis, and treatment information for Marfanoid hypermobility syndrome (Marfan syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research ...

• Hypermobility Syndromes Association » Marfanoid Body Shape

The Hypermobility Syndromes Association (HMSA)is a UK charity but we are happy to support people with Hypermobility syndromes worldwide The Hypermobility ... Disclaimer The information provided by the HMSA should not take ...

---

★リンクテーブル★

リンク元	「マルファン様過剰運動性症候群」
関連記事	「hypermobility」「syndrome」

「マルファン様過剰運動性症候群」

　　[★]

英

marfanoid hypermobility syndrome

「hypermobility」

　　[★]

• 運動機能亢進、過剰運動性

「syndrome」

　　[★]

• n.

• 症候群