Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies

被引：15
|
作者：
Perel, Y
Butenandt, O
Carrere, A
Saura, R
Fayon, M
Lamireau, T
Vergnes, P
机构：
[1] Grp Hosp Pellegrin, Childrens Hosp, Haematol & Oncol Unit, Dept Paediat, F-33076 Bordeaux, France
[2] Grp Hosp Pellegrin, Childrens Hosp, Dept Paediat, Intens Care Unit, F-33076 Bordeaux, France
[3] Grp Hosp Pellegrin, Childrens Hosp, Dept Paediat, Emergency Unit, F-33076 Bordeaux, France
[4] Univ Munich, Dr Von Haunerschen Kinderspital, Unit Paedita Auxol, D-80337 Munchen, Germany
[5] Grp Hosp Pellegrin, Dept Genet, Bordeaux, France
[6] Grp Hosp Pellegrin, Childrens Hosp, Dept Pediat Surg, Bordeaux, France
来源：
ARCHIVES OF DISEASE IN CHILDHOOD | 1998年 / 78卷 / 04期
关键词：
Fanconi's anaemia; oesophageal atresia; VACTERL; chromosome breakage;
D O I：
10.1136/adc.78.4.375
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Oesophageal atresia usually occurs without any genetic background. Three cases associated with Fanconi's anaemia are reported. One neonate had growth retardation and numerous malformations including oesophageal atresia and four other components of the VACTERL association. In the two others, oesophageal atresia was isolated. In patients with such malformations an early diagnosis of Fanconi's anaemia may have important genetic and therapeutic implications.
引用
收藏
页码：375 / 376
页数：2
相关论文
共 28 条
  • [1] Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies
    Narchi, H
    ARCHIVES OF DISEASE IN CHILDHOOD, 1999, 80 (02) : 207 - 207
  • [2] VACTERL WITH HYDROCEPHALUS - ONE END OF THE FANCONI ANEMIA SPECTRUM OF ANOMALIES
    PORTEOUS, MEM
    CROSS, I
    BURN, J
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (06): : 1032 - 1034
  • [3] Fanconi's anemia, type A presenting as VACTERL association with atresia right external auditory canal
    Herman, T. E.
    Siegel, M. J.
    JOURNAL OF PERINATOLOGY, 2010, 30 (01) : 73 - 76
  • [4] Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology
    Shaw-Smith, C.
    JOURNAL OF MEDICAL GENETICS, 2006, 43 (07) : 545 - 554
  • [5] Fanconi's anemia, type A presenting as VACTERL association with atresia right external auditory canal
    T E Herman
    M J Siegel
    Journal of Perinatology, 2010, 30 : 73 - 76
  • [6] Sporadic neonatal Fanconi's anemia with VACTERL association
    Kanemoto, Nobuko
    Fukushima, Takashi
    Imoto, Natsuki
    Koike, Kazutoshi
    Kanemoto, Katsuyoshi
    Matsuura, Shinya
    PEDIATRICS INTERNATIONAL, 2010, 52 (01) : 141 - 142
  • [7] VACTERL anomalies in patients with esophageal atresia: an updated delineation of the spectrum and review of the literature
    Keckler, Scott J.
    St Peter, Shawn D.
    Valusek, Patricia A.
    Tsao, KuoJen
    Snyder, Charles L.
    Holcomb, George W., III
    Ostlie, Daniel J.
    PEDIATRIC SURGERY INTERNATIONAL, 2007, 23 (04) : 309 - 313
  • [8] VACTERL anomalies in patients with esophageal atresia: an updated delineation of the spectrum and review of the literature
    Scott J. Keckler
    Shawn D. St. Peter
    Patricia A. Valusek
    KuoJen Tsao
    Charles L. Snyder
    George W. Holcomb
    Daniel J. Ostlie
    Pediatric Surgery International, 2007, 23 : 309 - 313
  • [9] Surgical correction of tracheo-oesophageal fistula and oesophageal atresia in infants with VACTERL association: a retrospective case–control study
    Robert D. Morgan
    John M. O’Callaghan
    Silke Wagener
    Hugh W. Grant
    Kokila Lakhoo
    Pediatric Surgery International, 2012, 28 : 967 - 970
  • [10] Fanconi Anaemia presenting as X-linked VACTERL association with hydrocephalus: unforeseen problems for prenatal diagnosis
    Holden, S
    Kesterton, IP
    Lim, BH
    Lees, CC
    Woods, CG
    JOURNAL OF MEDICAL GENETICS, 2005, 42 : S32 - S32
123