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Volumn 80, Issue 3, 1998, Pages 247-251

Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II

Author keywords

Atelosteogenesis; Dilated rough endoplasmic reticulum; Inclusion bodies; Lethal skeletal dysplasia; Mesomelic dysplasia

Indexed keywords

ARTICLE; AUTOPSY; BONE ATROPHY; BONE RADIOGRAPHY; CASE REPORT; CHONDRODYSPLASIA; DIFFERENTIAL DIAGNOSIS; FETUS; HUMAN; PRIORITY JOURNAL; ULTRASTRUCTURE;

EID: 0031725569     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981116)80:3<247::AID-AJMG13>3.0.CO;2-F     Document Type: Article
Times cited : (13)

References (16)
  • 5
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    • Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): Evidence for a phenotypic series involving three chondrodysplasias
    • Hastbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES (1996): Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): Evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet 58:255-262.
    • (1996) Am J Hum Genet , vol.58 , pp. 255-262
    • Hastbacka, J.1    Superti-Furga, A.2    Wilcox, W.R.3    Rimoin, D.L.4    Cohn, D.H.5    Lander, E.S.6
  • 6
    • 0032511762 scopus 로고    scopus 로고
    • International nomenclature and classification of the osteochondrodysplasias
    • The International Working Group on Constitutional Diseases of Bone. (1998): International nomenclature and classification of the osteochondrodysplasias. Am J Med Genet 79:376-382.
    • (1998) Am J Med Genet , vol.79 , pp. 376-382
  • 8
    • 0014135485 scopus 로고
    • Mesomelic dwarfism of hypoplastic unla, fibulae, mandible type
    • Langer LO (1967): Mesomelic dwarfism of hypoplastic unla, fibulae, mandible type. Radiology 89:654-660.
    • (1967) Radiology , vol.89 , pp. 654-660
    • Langer, L.O.1
  • 9
    • 0019838051 scopus 로고
    • Mesomelic dysplasia - Associated with other abnormalities
    • Löhr H, Wiedemann HR (1981): Mesomelic dysplasia - associated with other abnormalities. Eur J Pediatr 137:313-316.
    • (1981) Eur J Pediatr , vol.137 , pp. 313-316
    • Löhr, H.1    Wiedemann, H.R.2
  • 11
    • 0031983775 scopus 로고    scopus 로고
    • A lethal osteochondrodysplasta with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: Two siblings born to consanguineous parents
    • Nishimura G, Nakayama M, Fuke Y, Suehara N (1998): A lethal osteochondrodysplasta with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: Two siblings born to consanguineous parents. Pediatr Radiol 28:43-47.
    • (1998) Pediatr Radiol , vol.28 , pp. 43-47
    • Nishimura, G.1    Nakayama, M.2    Fuke, Y.3    Suehara, N.4
  • 12
    • 0025005134 scopus 로고
    • Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?
    • Petrella R, Ludman MD, Rabinowitz JG, Gilbert F, Hirschhorn K (1990): Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome? Am J Med Genet 37:10-14.
    • (1990) Am J Med Genet , vol.37 , pp. 10-14
    • Petrella, R.1    Ludman, M.D.2    Rabinowitz, J.G.3    Gilbert, F.4    Hirschhorn, K.5
  • 14
    • 0019994266 scopus 로고
    • Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): A neonatally lethal short-limb skeletal dysplasia
    • Sillence DO, Lachman RS, Jenkins T, Riccardi VM, Rimoin DL (1982): Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): A neonatally lethal short-limb skeletal dysplasia. Am J Med Genet 13:7-14.
    • (1982) Am J Med Genet , vol.13 , pp. 7-14
    • Sillence, D.O.1    Lachman, R.S.2    Jenkins, T.3    Riccardi, V.M.4    Rimoin, D.L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.