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Volumn 71, Issue 4, 1997, Pages 401-405

Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: A new syndrome?

Author keywords

Congenital arthrogryposis; Marden Walker syndrome; Ophthmalmoplegia; Pena Shokeir phenotype

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL INHERITANCE; CASE REPORT; CHILD; CLEFT PALATE; CRYPTORCHISM; DIFFERENTIAL DIAGNOSIS; FOLLOW UP; HUMAN; INTRAUTERINE GROWTH RETARDATION; MALE; OPHTHALMOPLEGIA; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; RETINOPATHY; SYNDROME;

EID: 0030770804     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970905)71:4<401::AID-AJMG6>3.0.CO;2-W     Document Type: Article
Times cited : (8)

References (14)
  • 1
    • 0029807941 scopus 로고    scopus 로고
    • A revised and extended classification of the distal arthrogryposis
    • Bamshad M, Jorde LB, Carey JC (1996): A revised and extended classification of the distal arthrogryposis. Am J Med Genet 65:277-281.
    • (1996) Am J Med Genet , vol.65 , pp. 277-281
    • Bamshad, M.1    Jorde, L.B.2    Carey, J.C.3
  • 2
    • 0024308011 scopus 로고
    • Pena-Shokeir phenotype with major CNS malformations: Clinicopathological report of two siblings
    • Erdl R, Schmidtke K, Jakobeit M, Nerlich A, Schramm T (1989): Pena-Shokeir phenotype with major CNS malformations: Clinicopathological report of two siblings. Clin Genet 36:127-135.
    • (1989) Clin Genet , vol.36 , pp. 127-135
    • Erdl, R.1    Schmidtke, K.2    Jakobeit, M.3    Nerlich, A.4    Schramm, T.5
  • 5
    • 0002253401 scopus 로고
    • Invited editorial comment: Analysis of Pena-Shokeir phenotype
    • Hall JG (1986): Invited editorial comment: Analysis of Pena-Shokeir phenotype. Am J Med Genet 25:99-117.
    • (1986) Am J Med Genet , vol.25 , pp. 99-117
    • Hall, J.G.1
  • 6
    • 0020041341 scopus 로고
    • The distal arthrogryposis: Delineation of new entities-review and nosologic discussion
    • Hall JG, Reed SP, Greene G (1982): The distal arthrogryposis: Delineation of new entities-review and nosologic discussion. Am J Med Genet 11: 185-239.
    • (1982) Am J Med Genet , vol.11 , pp. 185-239
    • Hall, J.G.1    Reed, S.P.2    Greene, G.3
  • 8
    • 0021863994 scopus 로고
    • The Marden-Walker syndrome: A case report and review of the literature
    • Jancar J, Mlele TJJ (1985): The Marden-Walker syndrome: A case report and review of the literature. J Ment Defic Res 29:63-70.
    • (1985) J Ment Defic Res , vol.29 , pp. 63-70
    • Jancar, J.1    Mlele, T.J.J.2
  • 9
    • 0024384397 scopus 로고
    • Pena-Shokeir phenotype in sibs with macrocephaly but without growth retardation
    • Lammer EJ, Donnelly S, Holmes LB (1989): Pena-Shokeir phenotype in sibs with macrocephaly but without growth retardation. Am J Med Genet 32:478-481.
    • (1989) Am J Med Genet , vol.32 , pp. 478-481
    • Lammer, E.J.1    Donnelly, S.2    Holmes, L.B.3
  • 11
    • 0016164162 scopus 로고
    • Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia: A lethal condition
    • Pena SDJ, Shokeir MHK (1974): Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia: A lethal condition. J Pediatr 85:373-375.
    • (1974) J Pediatr , vol.85 , pp. 373-375
    • Pena, S.D.J.1    Shokeir, M.H.K.2
  • 13
    • 0021797057 scopus 로고
    • Sibs with the fetal akinesia sequence, fetal edema and malformations: A new syndrome
    • Toriello HV, Bauserman SC, Higgins JV (1985): Sibs with the fetal akinesia sequence, fetal edema and malformations: A new syndrome. Am J Med Genet 21:271-277.
    • (1985) Am J Med Genet , vol.21 , pp. 271-277
    • Toriello, H.V.1    Bauserman, S.C.2    Higgins, J.V.3
  • 14
    • 0027166260 scopus 로고
    • Marden-Walker syndrome: A case report and a critical review of the literature
    • Williams MS, Josephson KD, Wargowski DS (1993): Marden-Walker syndrome: A case report and a critical review of the literature. Clin Dysmorphol 2:211-219.
    • (1993) Clin Dysmorphol , vol.2 , pp. 211-219
    • Williams, M.S.1    Josephson, K.D.2    Wargowski, D.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.