메뉴 건너뛰기




Volumn 13, Issue 2, 2013, Pages 301-305

One in three: Congenital bent bone disease and intermittent hyperthermia in three siblings with Stuve-Wiedemann syndrome

Author keywords

Case report; Myotonia; Oman; Pyrexia; Schwartz Jampel syndrome; Stuve Weidemann syndrome

Indexed keywords


EID: 84877804008     PISSN: 2075051X     EISSN: 20750528     Source Type: Journal    
DOI: 10.12816/0003238     Document Type: Article
Times cited : (4)

References (9)
  • 2
    • 0015243570 scopus 로고
    • Congenital bowing of the long bones in two sisters
    • Stuve A, Wiedemann MR. Congenital bowing of the long bones in two sisters. Lancet 1971; 2:495.
    • (1971) Lancet , vol.2 , pp. 495
    • Stuve, A.1    Wiedemann, M.R.2
  • 3
    • 0030039655 scopus 로고    scopus 로고
    • Neonatal Schwartz-Jampel syndrome: A common autosomal recessive syndrome in the United Arab Emirates
    • Al Gazali L, Varghese M, Varady E, AlTalabani J, Scorer J, Bakalinova D. Neonatal Schwartz-Jampel syndrome: A common autosomal recessive syndrome in the United Arab Emirates. J Med Genet 1996; 33:203-11.
    • (1996) J Med Genet , vol.33 , pp. 203-211
    • Al Gazali, L.1    Varghese, M.2    Varady, E.3    Altalabani, J.4    Scorer, J.5    Bakalinova, D.6
  • 4
    • 0042331463 scopus 로고    scopus 로고
    • Long term survival in Stuve-Wiedemann syndrome: A neuro-myo-skeletal disorder with manifestaions of dysautonomia
    • DiRocco M, Stella G, Bruno C, Doria Lamba L, Bado M, Superti Furga A. Long term survival in Stuve-Wiedemann syndrome: A neuro-myo-skeletal disorder with manifestaions of dysautonomia. Am J Med Genet 2003; 118:362-8.
    • (2003) Am J Med Genet , vol.118 , pp. 362-368
    • Dirocco, M.1    Stella, G.2    Bruno, C.3    Doria Lamba, L.4    Bado, M.5    Superti Furga, A.6
  • 6
    • 84877831713 scopus 로고    scopus 로고
    • Schwartz-Jampel syndrome in two siblings
    • Koul RL, Bashri WA, Otto F. Schwartz-Jampel syndrome in two siblings. Saudi Med J 1997; 18:525-6.
    • (1997) Saudi Med J , vol.18 , pp. 525-526
    • Koul, R.L.1    Bashri, W.A.2    Otto, F.3
  • 7
    • 84862258319 scopus 로고    scopus 로고
    • Review of Stuve-Wiedemann syndrome and related bent bone dysplasias
    • Akawi NA, Ali BR, Al-Gazali L. Review of Stuve-Wiedemann syndrome and related bent bone dysplasias. Clin Genet 2012; 82:12-21.
    • (2012) Clin Genet , vol.82 , pp. 12-21
    • Akawi, N.A.1    Ali, B.R.2    Al-Gazali, L.3
  • 8
    • 77950106409 scopus 로고    scopus 로고
    • Stuve-Wiedemann syndrome: Long term follow up and genetic heterogeneity
    • Jung C, Dagoneau N, Baujat G, LeMerrer M, David A, DiRocco M, et al. Stuve-Wiedemann syndrome: Long term follow up and genetic heterogeneity. Clin Genet 2010; 77:266-72.
    • (2010) Clin Genet , vol.77 , pp. 266-272
    • Jung, C.1    Dagoneau, N.2    Baujat, G.3    Lemerrer, M.4    David, A.5    Dirocco, M.6
  • 9
    • 10744227772 scopus 로고    scopus 로고
    • Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
    • Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, DiRocco M, Godard A, et al. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Med Genet 2004; 74:298-305.
    • (2004) Am J Med Genet , vol.74 , pp. 298-305
    • Dagoneau, N.1    Scheffer, D.2    Huber, C.3    Al-Gazali, L.I.4    Dirocco, M.5    Godard, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.