myotonic chondrodystrophy

シュワルツ・ヤンペル症候群。筋強直性軟骨ジストロフィー

WordNet

1. of or relating to or caused by myotonia

UpToDate Contents

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• 1. ペルオキシソーム病 peroxisomal disorders
• 2. Prenatal diagnosis of the lethal skeletal dysplasias
• 3. 高カルシウム血症の原因 etiology of hypercalcemia
• 4. 軟骨毛髪形成不全症 cartilage hair hypoplasia
• 5. 内反膝の小児に対するアプローチ approach to the child with bow legs

English Journal

• One-stage treatment to osteochondroma of the coronoid process and secondary facial asymmetry with coronoidectomy and reduction malarplasty: a case report and literature review.

• Fan H1, Lv X1, Shi J1, Hu J2, Luo E3.
• Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons.J Oral Maxillofac Surg.2014 Sep;72(9):1870.e1-1870.e13. doi: 10.1016/j.joms.2014.04.030. Epub 2014 May 5.
• PURPOSE: This study summarizes the literature concerning osteochondroma of the mandibular coronoid process and presents a case of 1-stage treatment for this condition and concomitant facial asymmetry.MATERIALS AND METHODS: A 20-year-old man presented with osteochondroma of the mandibular coronoid pr
• PMID 25109586

• Low condylectomy and orthognathic surgery to treat mandibular condylar osteochondroma: a retrospective review of 37 cases.

• Wolford LM1, Movahed R2, Dhameja A3, Allen WR4.
• Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons.J Oral Maxillofac Surg.2014 Sep;72(9):1704-28. doi: 10.1016/j.joms.2014.03.009. Epub 2014 Mar 24.
• PURPOSE: To evaluate the outcomes from surgical treatment of mandibular condylar osteochondroma (condylar hyperplasia [CH] type 2) using a specific surgical protocol. CH type 2 is a unilateral benign pathologic condition, with progressive proliferation of osseous and cartilaginous tissues in the con
• PMID 24997022

• Disordered glycometabolism involved in pathogenesis of Kashin-Beck disease, an endemic osteoarthritis in China.

• Wu C1, Lei R2, Tiainen M3, Wu S4, Zhang Q5, Pei F6, Guo X7.
• Experimental cell research.Exp Cell Res.2014 Aug 15;326(2):240-50. doi: 10.1016/j.yexcr.2014.04.019. Epub 2014 May 2.
• Kashin-Beck disease (KBD) is a chronic endemic osteoarthritis in China. Previous studies have suggested a role of metabolic dysfunction in causation of this disease. In this investigation, the metabolomics approach and cell experiments were used to discover the metabolic changes and their effects on
• PMID 24792129

Related Links

• Myotonic chondrodystrophy - RightDiagnosis.com

Myotonic chondrodystrophy symptoms, causes, diagnosis, and treatment information for Myotonic chondrodystrophy (Schwartz-Jampel Syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research ...

• Myotonic Chondrodystrophy -- Medical Definition

myotonic chondrodystrophy Type: Term Definitions: 1. a rare congenital disease that causes myotonia, muscular hypertrophy, joint and long bone abnormalities, and ... The definition information for myotonic chondrodystrophy is ...

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★リンクテーブル★

リンク元	「シュワルツ・ヤンペル症候群」
関連記事	「chondrodystrophy」「myotonic」

「シュワルツ・ヤンペル症候群」

　　[★]

英

Schwartz-Jampel syndrome

同

シュワルツ症候群 Schwartz syndrome、筋強直性軟骨ジストロフィー myotonic chondrodystrophy

関

骨軟骨形成異常、多発性骨端異形成症、脊椎骨端異形成症、軟骨形成不全症、Schwartz-Jampel症候群、メルニック・ニードルズ症候群、全身性皮質性骨化過剰症

dyschondroplasia、hyperostosis corticalis generalisata、Melnick-Needles syndrome、multiple epiphyseal dysplasia、osteochondrodysplasia、spondyloepiphyseal dysplasia

• 骨形成不全と筋強直を伴う遺伝性疾患

参考

• 1. Congenital blepharophimosis associated with a unique generalized myopathy.

• SCHWARTZ O, JAMPEL RS.
• Archives of ophthalmology.Arch Ophthalmol.1962 Jul;68:52-7.
• PMID 13909723

「chondrodystrophy」

　　[★]

軟骨異栄養症、軟骨発育不全、軟骨ジストロフィー

「myotonic」

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• 筋緊張性の、筋強直性の