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Volumn 92, Issue 1, 2000, Pages 33-39

SPONASTRIME dysplasia: Report of an 11-year-old boy and review of the literature

Author keywords

Bone dysplasia; Genetic counseling; Short stature; SPONASTRIME dysplasia

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DISEASE; BONE DYSPLASIA; BONE RADIOGRAPHY; CASE REPORT; CHILD; CLINICAL FEATURE; GENETIC COUNSELING; HUMAN; MALE; METAPHYSIS; PRIORITY JOURNAL; SHORT STATURE; SKULL RADIOGRAPHY;

EID: 0034192869     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000501)92:1<33::AID-AJMG6>3.0.CO;2-U     Document Type: Article
Times cited : (9)

References (14)
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  • 2
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  • 3
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    • Metacarpophalangeal pattern profile analysis in Brachman-de Lange syndrome
    • Butler MG, Dahir GA, Gale DD, Meaney FJ. 1993. Metacarpophalangeal pattern profile analysis in Brachman-de Lange syndrome. Am J Med Genet 47:1003-1005.
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  • 4
    • 0027817164 scopus 로고
    • Sponastrime dysplasia: Report on two siblings with mental retardation
    • Camera G, Camera A, Di Rocco M, Gatti R. 1993. Sponastrime dysplasia: report on two siblings with mental retardation. Pediatric Radiol 23: 611-614.
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    • Camera, G.1    Camera, A.2    Di Rocco, M.3    Gatti, R.4
  • 5
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    • The SPONASTRIME dysplasia: Familial short-limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation
    • Fanconi S, Issler Chr, Giedion A, Prader A. 1983. The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation. Helv Paediatr Acta 38:267-280.
    • (1983) Helv Paediatr Acta , vol.38 , pp. 267-280
    • Fanconi, S.1    Issler, Chr.2    Giedion, A.3    Prader, A.4
  • 6
    • 0015432458 scopus 로고
    • Metacarpophalangeal length in the evaluation of skeletal malformation
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  • 7
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    • Applications of the pattern variability index (OZ) to the quantification of dysmorphogenesis in the hand
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  • 8
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  • 10
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    • Sponastrime dysplasia: Diagnostic criteria based on five new and six previously published cases
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  • 12
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.