Melnick-Needles syndrome

出典: meddic

メルニック・ニードルズ症候群Melnick-Needles症候群

dyschondroplasiahyperostosis corticalis generalisatamultiple epiphyseal dysplasiaosteochondrodysplasiaSchwartz-Jampel syndromespondyloepiphyseal dysplasia

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/04/25 14:51:27」(JST)

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英文文献

  • Toward an understanding of the short bone phenotype associated with multiple osteochondromas.
  • Jones KB, Datar M, Ravichandran S, Jin H, Jurrus E, Whitaker R, Capecchi MR.SourceSarcoma Services, Department of Orthopaedics and Center for Children's Cancer Research, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Journal of orthopaedic research : official publication of the Orthopaedic Research Society.J Orthop Res.2013 Apr;31(4):651-7. doi: 10.1002/jor.22280. Epub 2012 Nov 28.
  • Individuals with multiple osteochondromas (MO) demonstrate shortened long bones. Ext1 or Ext2 haploinsufficiency cannot recapitulate the phenotype in mice. Loss of heterozygosity for Ext1 may induce shortening by steal of longitudinal growth into osteochondromas or by a general derangement of physea
  • PMID 23192691
  • Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing.
  • Sui W, Ou M, Liang J, Ding M, Chen J, Liu W, Xiao R, Meng X, Wang L, Pan X, Zhu P, Xue W, Zhang Y, Lin H, Li F, Zhang J, Dai Y.SourceGuangxi Key laboratory of Metabolic Diseases Research, Central Laboratory of Guilin 181st Hospital, Guilin, 541002, China.
  • Gene.Gene.2013 Mar 10;516(2):311-5. doi: 10.1016/j.gene.2012.12.072. Epub 2013 Jan 4.
  • Osteopetrosis is a rare genetically heterogeneous disorder of bone metabolism characterized by increased skeleton density. In the past, standard methods for genetic diagnosis of osteopetrosis have primarily been performed by candidate gene screening and positional cloning. However, these methods are
  • PMID 23296056
  • Evaluation of the severity of malocclusions in children affected by osteogenesis imperfecta with the peer assessment rating and discrepancy indexes.
  • Rizkallah J, Schwartz S, Rauch F, Glorieux F, Vu DD, Muller K, Retrouvey JM.SourceMontreal Children's Hospital-McGill University, Montreal, Quebec, Canada. jean.rizkallah@umontreal.ca
  • American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics.Am J Orthod Dentofacial Orthop.2013 Mar;143(3):336-41. doi: 10.1016/j.ajodo.2012.10.016.
  • INTRODUCTION: Osteogenesis imperfecta is a heritable disorder affecting bone and tooth development. Malocclusion is frequent in those affected by osteogenesis imperfecta, but this has not been studied in detail. The purpose of this study was to describe and quantify the severity of malocclusions in
  • PMID 23452967

和文文献

  • 臨床室 Melnick-Needles症候群の1例
  • 川澄 本明,鬼頭 浩史,吉橋 裕治 [他]
  • 整形外科 60(10), 1089-1092, 2009-09
  • NAID 40016800097
  • Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report

関連リンク

Melnick-Needles syndrome is usually the most severe of the otopalatodigital spectrum disorders. People with this condition are usually of short stature, have an abnormal curvature of the spine (scoliosis), partial dislocation (subluxation) of ...
A US Department of Health and Human Service project providing information on genetic and rare diseases. A comprehensive body of resources on Melnick- Needles syndrome.

関連画像

Melnick-Needles Syndrome: Report of a Case Melnick-Needles Syndrome: Report of a Case  dysplasia and Melnick-Needles syndromeMelnick Needles SyndromeMelnick-Needles Syndrome: Report of a Case  melnick needles syndrome european journal


★リンクテーブル★
先読みSchwartz-Jampel syndrome」「multiple epiphyseal dysplasia」「spondyloepiphyseal dysplasia
リンク元シュワルツ・ヤンペル症候群」「メルニック・ニードルズ症候群」「Melnick-Needles症候群
関連記事syndrome

Schwartz-Jampel syndrome」

  [★] シュワルツ・ヤンペル症候群Schwartz-Jampel症候群


multiple epiphyseal dysplasia」

  [★] 多発性骨端異形成症 MED


spondyloepiphyseal dysplasia」

  [★] 骨軟骨発育不全症


シュワルツ・ヤンペル症候群」

  [★]

Schwartz-Jampel syndrome
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
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
dyschondroplasiahyperostosis corticalis generalisataMelnick-Needles syndromemultiple epiphyseal dysplasiaosteochondrodysplasiaspondyloepiphyseal 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



メルニック・ニードルズ症候群」

  [★]

Melnick-Needles syndrome
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シュワルツ・ヤンペル症候群Melnick-Needles症候群全身性皮質性骨化過剰症


Melnick-Needles症候群」

  [★]

Melnick-Needles syndrome
メルニック・ニードルズ症候群


syndrome」

  [★]

  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

WordNet   license wordnet

「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(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」




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