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Volumn 155, Issue 12, 1996, Pages 1040-1042

A case of skeletal dysplasia with advanced carpal ossification and 'monkey wrench' appearance of the femora: Mild Desbuquois dysplasia?

Author keywords

Autosomal recessive trait; Desbuquois dysplasia; Mild phenotype; Skeletal dysplasia

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CARPAL BONE; CASE REPORT; FEMUR EPIPHYSIS; HUMAN; MALE; OSSIFICATION; PHENOTYPE; PRIORITY JOURNAL;

EID: 0029995717     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02532527     Document Type: Article
Times cited : (3)

References (9)
  • 1
    • 0021966748 scopus 로고
    • A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age
    • Beemer FA, Kramer PPG, Harten HJ van der, Gerards LJ (1985) A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age. Am J Med Genet 20:555-558
    • (1985) Am J Med Genet , vol.20 , pp. 555-558
    • Beemer, F.A.1    Kramer, P.P.G.2    Van Der Harten, H.J.3    Gerards, L.J.4
  • 2
    • 0000935499 scopus 로고
    • Nanism chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs
    • Desbuquois G, Grenier B, Michel J, Rossignol C (1966) Nanism chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs. Arch Fr Pediatr 23:573-587
    • (1966) Arch Fr Pediatr , vol.23 , pp. 573-587
    • Desbuquois, G.1    Grenier, B.2    Michel, J.3    Rossignol, C.4
  • 4
    • 0026761526 scopus 로고
    • Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age
    • Jequire S, Perreault G, Maroteaux P (1992) Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age. Pediatr Radiol 22:440-442
    • (1992) Pediatr Radiol , vol.22 , pp. 440-442
    • Jequire, S.1    Perreault, G.2    Maroteaux, P.3
  • 6
    • 0024636816 scopus 로고
    • Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: Another observation
    • Meinecke P, Spranger J, Schaefer E, Maroteaux P (1989) Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: Another observation. Am J Med Genet 32:432-434
    • (1989) Am J Med Genet , vol.32 , pp. 432-434
    • Meinecke, P.1    Spranger, J.2    Schaefer, E.3    Maroteaux, P.4
  • 7
  • 8
    • 0016838856 scopus 로고
    • Dysplasie osseuse avec nanisme et alterations squelettiques diffuses
    • Piussan C, Maroteaux P, Castroviejo I, Risbourg B (1975) Dysplasie osseuse avec nanisme et alterations squelettiques diffuses. Arch Fr Pediatr 32:541-550
    • (1975) Arch Fr Pediatr , vol.32 , pp. 541-550
    • Piussan, C.1    Maroteaux, P.2    Castroviejo, I.3    Risbourg, B.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.