Tibial aplasia - VACTERL association, a new syndrome?

被引：9
|
作者：
Basel, D [1 ]
Goldblatt, J
机构：
[1] Univ Cape Town, Sch Med, Dept Human Genet, ZA-7925 Rondebosch, South Africa
[2] King Edward Mem Hosp, Genet Serv Western Australia, Subiaco, WA, Australia
来源：
CLINICAL DYSMORPHOLOGY | 2000年 / 9卷 / 03期
关键词：
tibial aplasia; skeletal dysplasia; VACTERL;
D O I：
10.1097/00019605-200009030-00010
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a male infant, born to nonconsanguineous parents, with a vertebral anomaly, cardiac defect, tracheooesophageal fistula and hypospadias (VACTERL association) together with bilateral tibial aplasia. This pattern of abnormalities appears to represent a unique syndrome. Clin Dysmorphol 9: 205-208 (C) 2000 Lippincott Williams & Wilkins.
引用
收藏
页码：205 / 208
页数：4
相关论文
共 50 条
  • [21] CONCORDANCE OF PRUNE-BELLY-SYNDROME AND VACTERL-ASSOCIATION
    OZTURK, B
    WEBER, HP
    GANZ, A
    KLINISCHE PADIATRIE, 1994, 206 (05): : 406 - 409
  • [22] Prune-Belly Syndrome with VACTERL Association: A Rare Case
    Singh, Sudhir
    Rawat, Jiledar
    Pant, Nitin
    Singh, Sarita
    JOURNAL OF CLINICAL NEONATOLOGY, 2018, 7 (03) : 181 - 184
  • [23] Ocular coloboma and radial aplasia: syndrome or association
    S Cazabon
    J A Bradbury
    Eye, 2003, 17 : 532 - 534
  • [24] Ocular coloboma and radial aplasia: syndrome or association
    Cazabon, S
    Bradbury, JA
    EYE, 2003, 17 (04) : 532 - 534
  • [25] VACTERL/VATER Association
    Solomon, Benjamin D.
    ORPHANET JOURNAL OF RARE DISEASES, 2011, 6
  • [26] VACTERL Association in a Cat
    Moura, Enio
    Cirio, Silvana M.
    Villanova, Jose A., Jr.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (03) : 777 - 780
  • [27] VACTERL-ASSOCIATION
    CZEIZEL, A
    LUDANYI, I
    ACTA MORPHOLOGICA HUNGARICA, 1984, 32 (02): : 75 - 96
  • [28] Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association
    Castori, Marco
    Rinaldi, Rosanna
    Cappellacci, Sandra
    Grammatico, Paola
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (10) : 1259 - 1266
  • [29] VACTERL/VATER Association
    Benjamin D Solomon
    Orphanet Journal of Rare Diseases, 6
  • [30] VACTERL Association - A Casuistry
    Muth, I.
    Westphal, J.
    Froeber, R.
    Schleussner, E.
    GEBURTSHILFE UND FRAUENHEILKUNDE, 2024, 84 (06) : E27 - E27
12345