Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association.
BACKGROUND
The VACTERL association is the nonrandom co-occurrence of Vertebral anomalies, Anal atresia, Cardiovascular malformations, Tracheo-esophageal fistula (TEF) and/or Esophageal atresia (EA), Renal anomalies, and/or Limb-anomalies. The full phenotype of patients with EA/TEF and other anomalies of the VACTERL spectrum of defects association is not well described in the literature.


METHODS
Data on patients with EA/TEF seen in two pediatric surgical centers in the Netherlands between January 1988 and August 2006 were evaluated for defects of the VACTERL spectrum as well as non-VACTERL-type defects. The presence of two or more defects of the VACTERL spectrum in addition to EA/TEF was the criterion for inclusion in this study. A detailed description was made of all defects.


RESULTS
Of 463 patients with EA and/or TEF, 107 (23.1%) fulfilled the inclusion criterion, of which seventeen cases had a recognized etiology and were excluded, leaving 90 cases (19.4%) for analysis. Other than the esophagus and the trachea, the vertebrae/ribs and the cardiovascular system were most commonly affected (68.9 and 65.6%, respectively). Interestingly, 70% of cases had additional non-VACTERL-type defects, with high occurrences for single umbilical artery (20%), genital defects (23.3%), and respiratory tract anomalies (13.3%).


CONCLUSIONS
Many patients with EA/TEF and at least two other defects of the VACTERL spectrum also display non-VACTERL-type congenital anomalies.
de Jong
Elisabeth M
EM
Department of Pediatric Surgery, Erasmus MC - Sophia Children's Hospital, Rotterdam, the Netherlands.
Felix
Janine F
JF
Deurloo
Jacqueline A
JA
van Dooren
Marieke F
MF
Aronson
Daniël C
DC
Torfs
Claudine P
CP
Heij
Hugo A
HA
Tibboel
Dick
D
D000015:Abnormalities, Multiple / Q000453:epidemiology* / Q000209:etiology; D000328:Adult; D002869:Chromosome Aberrations; D004933:Esophageal Atresia / Q000175:diagnosis* / Q000209:etiology; D005260:Female; D006330:Heart Defects, Congenital / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D017880:Limb Deformities, Congenital / Q000453:epidemiology; D011247:Pregnancy; D014138:Tracheoesophageal Fistula / Q000175:diagnosis* / Q000209:etiology