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
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