skeletal dysplasia

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/08/04 14:58:56」(JST)

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  • Rapid Detection of Common Mutations of the FGFR3 Gene Causing Thanatophoric Dysplasia Type I: Two Case Reports.
  • Yang Y, Liu YN, Li DZ.SourceDepartment of Obstetrics and Gynecology , and.
  • Fetal and pediatric pathology.Fetal Pediatr Pathol.2012 Jun;31(3):128-33. Epub 2012 Mar 13.
  • Thanatophoric dysplasia (TD) is a relatively common lethal skeletal dysplasia. These malformations result from the mutations in fibroblast growth factor receptor 3 (FGFR3) gene, which is located on the short arm of chromosome 4. Accurate diagnosis of fetal TD is important for patient counseling and
  • PMID 22414243
  • Correction of knee deformity in patients with Ellis-van Creveld syndrome: A case report and review of the literature.
  • Jöckel JA, Reichel H, Nelitz M.SourceDepartment of Orthopaedic Trauma, University of Ulm, Steinhoevelstr. 9, 89075 Ulm, Germany.
  • The Knee.Knee.2012 Jun;19(3):218-22. Epub 2011 Apr 5.
  • Ellis-van Creveld Syndrome (EVC) is a rare autosomal recessive disorder. In 1940 Richard W. Ellis and Simon van Creveld first reported on a rare skeletal dysplasia, which to emphasize the main clinical characteristics, was termed "chondro-ectodermal dysplasia". The ectodermal involvement includes th
  • PMID 21470865


  • 骨疾患の遺伝子解析 (骨疾患)


Skeletal dysplasia is the medical term for what most people refer to as “dwarfism”. The term is an umbrella for a group of hundreds of conditions affecting bone and cartilage growth.
Skeletal Dysplasia. Dwarfism is a commonly used term for disproportionately short stature, although a more medically appropriate term for this disorder is skeletal dysplasia. ... Until skeletal maturity, cartilage persists at ...


skeletal dysplasia patient at NemoursSkeletal Dysplasiathe most lethal form of skeletal dysplasia Skeletal Dysplasia : skeletal dysplasia, skeletal dysplasiaSkeletal Dysplasia Image-Skeletal




skeletal dysplasia



  • adj.
  • 骨格の、骸骨の(ような)
scaffold, skeleton

WordNet   license wordnet

「of or relating to or forming or attached to a skeleton; "the skeletal system"; "skeletal bones"; "skeletal muscles"」

PrepTutorEJDIC   license prepejdic



  [★] 異形成

WordNet   license wordnet

「abnormal development (of organs or cells) or an abnormal structure resulting from such growth」