Two cases of Joubert Syndrome with End Stage Renal Failure

被引:0
|
作者
Yilmaz, Dilek [1 ]
Sonmez, Ferah [1 ]
Guzunler, Melike [2 ]
Cirak, Sebahattin [3 ]
Frost, Sarah [4 ]
Vater, Inga [4 ]
Coemertpay, Gamze [5 ]
Heise, Marisol [5 ]
Hellenbroich, Yorck [4 ]
Uyanik, Goekhan [5 ]
机构
[1] Adnan Menderes Univ, Dept Pediat, Div Pediat Neprol, Aydin, Turkey
[2] Gediz Hosp, Dept Pediat, Manisa, Turkey
[3] Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, London, England
[4] Med Univ Lubeck, Univ Hosp Schleswig Holstein, Inst Human Genet, Lubeck, Germany
[5] Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany
关键词
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:1796 / 1797
页数:2
相关论文
共 50 条
  • [1] Development of end-stage renal disease at a young age in two cases with Joubert syndrome
    Soenmez, Ferah
    Guezuenler-Sen, Melike
    Yilmaz, Dilek
    Comertpay, Gamze
    Heise, Marisol
    Cirak, Sebahattin
    Uyanik, Goekhan
    TURKISH JOURNAL OF PEDIATRICS, 2014, 56 (04) : 458 - 461
  • [2] Two cases of penile necrosis in diabetics with end-stage renal failure
    Haritopoulos, KN
    Hakim, NS
    INTERNATIONAL SURGERY, 2001, 86 (03) : 169 - 172
  • [3] End-stage renal failure in Lowe syndrome
    Tricot, L
    Yahiaoui, Y
    Teixeira, L
    Benabdallah, L
    Rothschild, E
    Juquel, JP
    Satre, V
    Grünfeld, JP
    Chauveau, D
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2003, 18 (09) : 1923 - 1925
  • [4] Brown tumor as manifestation of parathyroid hyperplasia in two cases with end-stage renal failure
    Apaydin, S
    Sariyar, M
    Erek, E
    Yigitbas, R
    Hamzaoglu, I
    NEPHRON, 1999, 81 (03): : 358 - 359
  • [5] Neuroradiological aspects of Joubert syndrome: an analysis of two cases
    Ilyina, ES
    Mukhin, K
    Alikhanov, AA
    Generalov, VO
    ZHURNAL NEVROLOGII I PSIKHIATRII IMENI S S KORSAKOVA, 2005, 105 (10): : 59 - 61
  • [6] Joubert Syndrome with Variable Features: Presentation of Two Cases
    Barzegar, Mohammad
    Malaki, Majid
    Sadegi-Hokmabadi, Elyar
    IRANIAN JOURNAL OF CHILD NEUROLOGY, 2013, 7 (02) : 43 - 46
  • [7] Asphyxiating thoracic dystrophy with end-stage renal failure. A report of two cases.
    Mourani, C
    Sarrouge, T
    Haddad-Zebouni, S
    Akatcherian, C
    ANNALES DE PEDIATRIE, 1998, 45 (09): : 649 - 653
  • [8] Townes-Brocks syndrome presenting as end stage renal failure
    Newman, WG
    Brunet, MD
    Donnai, D
    CLINICAL DYSMORPHOLOGY, 1997, 6 (01) : 57 - 60
  • [9] ANIRIDIA-WILMS-SYNDROME IN END STAGE RENAL-FAILURE
    WILMS, H
    BACK, E
    KIRSTE, G
    KLINISCHE WOCHENSCHRIFT, 1986, 64 (17): : 800 - 803
  • [10] End-stage renal failure in Smith-Magenis syndrome
    Myers, Scott M.
    Challman, Thomas D.
    Bock, Glenn H.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (16) : 1922 - 1924