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Volumn 6, Issue 1, 1997, Pages 3-12

Spondyloepimetaphyseal dysplasia and abnormal dentition in siblings: A new autosomal recessive syndrome

Author keywords

autosomal recessive; oligodactyly; palmar creases; pointed incisors; spondyloepimetaphyseal dysplasia

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONSANGUINITY; DENTITION; FEMALE; GENETIC DISORDER; HUMAN; HYPODONTIA; MALE; PLATYSPONDYLY; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING; SPONDYLOEPIPHYSEAL DYSPLASIA;

EID: 0031016969     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (17)
  • 2
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    • L'osteochondrodysplasia spondylo-epiphyso-metaphysaire type Irapa: Nouveau nanisme avec rachis and metatarsien courts
    • Arias S, Mota M, Pinto-Cisternas J (1976): L'osteochondrodysplasia spondylo-epiphyso-metaphysaire type Irapa: nouveau nanisme avec rachis and metatarsien courts. Nouv Presse Med 5: 319-323.
    • (1976) Nouv Presse Med , vol.5 , pp. 319-323
    • Arias, S.1    Mota, M.2    Pinto-Cisternas, J.3
  • 3
    • 0028045099 scopus 로고
    • Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)
    • Beighton P (1994): Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). J Med Genet 31: 136-140.
    • (1994) J Med Genet , vol.31 , pp. 136-140
    • Beighton, P.1
  • 5
    • 0028365447 scopus 로고
    • New X linked Spondyloepimetaphyseal dysplasia: Report on eight affected males in the same family
    • Camera G, Stella G, Camera A (1994): New X linked Spondyloepimetaphyseal dysplasia: report on eight affected males in the same family. J Med Genet 31: 371-376.
    • (1994) J Med Genet , vol.31 , pp. 371-376
    • Camera, G.1    Stella, G.2    Camera, A.3
  • 9
    • 0015952188 scopus 로고
    • Micromelic type of spondylo-metaphyseal dysplasia
    • Kozlowski K (1974): Micromelic type of spondylo-metaphyseal dysplasia. Pediatr Radiol 2: 61-64.
    • (1974) Pediatr Radiol , vol.2 , pp. 61-64
    • Kozlowski, K.1
  • 11
    • 0028020924 scopus 로고
    • An unknown Spondyloepimetaphyseal dysplasia with a positive sweat chloride test, sparse hair and mild facial dysmorphism
    • Leonard NJ, Hughes HE (1994): An unknown Spondyloepimetaphyseal dysplasia with a positive sweat chloride test, sparse hair and mild facial dysmorphism. Clin Dysmorphol 3: 309-317.
    • (1994) Clin Dysmorphol , vol.3 , pp. 309-317
    • Leonard, N.J.1    Hughes, H.E.2
  • 12
    • 0000539628 scopus 로고
    • A "new" form of spondylometaphyseal dysplasia
    • Murdoch JL, Walker BA (1969): A "new" form of spondylometaphyseal dysplasia. Birth Defects Orig Art Ser V(4): 368-370.
    • (1969) Birth Defects Orig Art Ser , vol.5 , Issue.4 , pp. 368-370
    • Murdoch, J.L.1    Walker, B.A.2
  • 14
    • 0027300399 scopus 로고
    • New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin
    • Shohat M, Lachman R, Carmi R, Bar Ziv J, Rimoin D (1993): New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin. Am J Med Genet 46: 358-362.
    • (1993) Am J Med Genet , vol.46 , pp. 358-362
    • Shohat, M.1    Lachman, R.2    Carmi, R.3    Bar Ziv, J.4    Rimoin, D.5
  • 15
    • 0018220679 scopus 로고
    • Complex spondylo-epi-metaphyseal dysplasia with severe platyspondyly in two brothers
    • Tehranzadeh J, Khajavi A, Kozlowski K (1978): Complex spondylo-epi-metaphyseal dysplasia with severe platyspondyly in two brothers. Australas Radiol 22: 173-177.
    • (1978) Australas Radiol , vol.22 , pp. 173-177
    • Tehranzadeh, J.1    Khajavi, A.2    Kozlowski, K.3
  • 17
    • 0025295907 scopus 로고
    • Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: A new autosomal dominant syndrome
    • Whyte MP, Petersen DJ, McAlister WH (1990): Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: a new autosomal dominant syndrome. Am J Med Genet 36: 288-291.
    • (1990) Am J Med Genet , vol.36 , pp. 288-291
    • Whyte, M.P.1    Petersen, D.J.2    McAlister, W.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.