Associated malformations in patients with esophageal atresia

被引:44
作者
Stoll, Claude [1 ]
Alembik, Yves [1 ]
Dott, Beatrice [1 ]
Roth, Marie-Paule [1 ]
机构
[1] Fac Med, Med Genet Lab, F-67085 Strasbourg, France
关键词
Congenital malformations; Esophageal atresia; Tracheooesophageal fistula; TRACHEOESOPHAGEAL FISTULA; CONGENITAL-MALFORMATIONS; PRENATAL-DIAGNOSIS; EXPERIENCE; ANOMALIES; CLASSIFICATION; EPIDEMIOLOGY; SPECTRUM; DEFECTS;
D O I
10.1016/j.ejmg.2009.04.004
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Esophageal atresia is a common type of congenital malformation. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Because previous reports have inconsistently noted the type and frequency of malformations associated with esophageal atresia, we conducted this study in a geographically well-defined population, evaluating the birth prevalence of esophageal atresia and associated malformations ascertained between 1979 and 2003 in 334,262 consecutive births. Of the 99 patients with esophageal atresia, 46 (46.5%) had associated malformations. These included patients with chromosomal abnormalities (8 patients, 8%); non-chromosomal recognized syndromes (4 patients), including one each CHARGE syndrome, Fanconi anemia, Fryns syndrome, and Opitz G/BBB syndrome; associations including VACTERL (10 patients), and one schisis; one oculo-auriculo-vertebral spectrum; one malformation complex, a sirenomelia, and non-syndromic multiple congenital anomalies (MCA) (21 patients, 21%). Malformations of the cardiovascular system (24%), urogenital system (21%), digestive system (21%), musculoskeletal system (14%), and central nervous system (7%) were the most common other congenital malformations occurring in patients with esophageal atresia and non-syndromic MCA. We observed a high prevalence of total malformations and specific patterns of malformations associated with esophageal atresia which emphasizes the need to evaluate all patients with esophageal atresia for possible associated malformations. The malformations associated with esophageal atresia could be classified into a recognizable malformation syndrome or pattern in 25 out of 46 patients (54%). (C) 2009 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码:287 / 290
页数:4
相关论文
共 25 条
[1]   Genetic players in esophageal atresia and tracheoesophageal fistula [J].
Brunner, HG ;
van Bokhoven, H .
CURRENT OPINION IN GENETICS & DEVELOPMENT, 2005, 15 (03) :341-347
[2]   ESOPHAGEAL ATRESIA AND ASSOCIATED ANOMALIES [J].
CHITTMITTRAPAP, S ;
SPITZ, L ;
KIELY, EM ;
BRERETON, RJ .
ARCHIVES OF DISEASE IN CHILDHOOD, 1989, 64 (03) :364-368
[3]   ESOPHAGEAL ATRESIA IN SOUTH WEST OF ENGLAND [J].
DAVID, TJ ;
OCALLAGHAN, SE .
JOURNAL OF MEDICAL GENETICS, 1975, 12 (01) :1-11
[4]   THE EPIDEMIOLOGY OF TRACHEOESOPHAGEAL FISTULA AND ESOPHAGEAL ATRESIA IN EUROPE [J].
DEPAEPE, A ;
DOLK, H ;
LECHAT, MF .
ARCHIVES OF DISEASE IN CHILDHOOD, 1993, 68 (06) :743-748
[5]   Phenotypic presentation and outcome of esophageal atresia in the era of the Spitz classification [J].
Driver, CP ;
Shankar, KR ;
Jones, MO ;
Lamont, GA ;
Turnock, RR ;
Lloyd, DA ;
Losty, PD .
JOURNAL OF PEDIATRIC SURGERY, 2001, 36 (09) :1419-1421
[6]   PURE ESOPHAGEAL ATRESIA - A 50-YEAR REVIEW [J].
EIN, SH ;
SHANDLING, B .
JOURNAL OF PEDIATRIC SURGERY, 1994, 29 (09) :1208-1211
[7]  
ENGUM SA, 1995, ARCH SURG-CHICAGO, V130, P502
[8]   Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum [J].
Fischer, S ;
Lüdecke, HJ ;
Wieczorek, D ;
Böhringer, S ;
Gillessen-Kaesbach, G ;
Horsthemke, B .
HUMAN MOLECULAR GENETICS, 2006, 15 (04) :581-587
[9]   An overview of isolated and syndromic oesophageal atresia [J].
Genevieve, D. ;
de Pontual, L. ;
Amiel, J. ;
Sarnacki, S. ;
Lyonnet, S. .
CLINICAL GENETICS, 2007, 71 (05) :392-399
[10]  
GREENWOOD RD, 1976, PEDIATRICS, V57, P87