title: Reduced levels of MMP-2 and TIMP-1 in dyssegmental dysplasia.
abstract: Matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) were measured in a mild case of dyssegmental dysplasia. X-ray pictures of a female baby born vaginally at 39 weeks of gestation showed short, bent, dumbbell-shaped long bones of the limbs and profound dyssegmental ossification in the spine, findings characteristic of dyssegmental dysplasia. When the levels of MMP-1, MMP-2, MMP-9, TIMP-1, and TIMP-2 were measured, the levels of MMP-2 and TIMP-1 were significantly reduced. This case might provide a clue to disclose the etiology of dyssegmental dysplasia.
authors.affiliation: Department of Obstetrics and Gynecology, School of Medicine, Kanazawa University, Kanazawa, Japan. k-uchide@med.kanazawa-u.ac.jp
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Uchide
authors.forename: Hirohisa
authors.initials: H
authors.lastname: Ueno
authors.forename: Noboru
authors.initials: N
authors.lastname: Takizawa
authors.forename: Yasunori
authors.initials: Y
authors.lastname: Okada
mesh_terms: D001848:Bone Diseases, Developmental / Q000235:genetics* / Q000378:metabolism*; D001842:Bone and Bones / Q000378:metabolism; D004392:Dwarfism / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005312:Fetal Blood; D006801:Humans; D007231:Infant, Newborn; D020781:Matrix Metalloproteinase 1 / Q000097:blood; D020778:Matrix Metalloproteinase 2 / Q000097:blood*; D020780:Matrix Metalloproteinase 9 / Q000097:blood; D010641:Phenotype; D019715:Tissue Inhibitor of Metalloproteinase-1 / Q000097:blood*; D019716:Tissue Inhibitor of Metalloproteinase-2 / Q000097:blood
chemical_list: D019715:Tissue Inhibitor of Metalloproteinase-1; D019716:Tissue Inhibitor of Metalloproteinase-2; D020778:Matrix Metalloproteinase 2; D020780:Matrix Metalloproteinase 9; D020781:Matrix Metalloproteinase 1