Clinical characteristics of neonates with VACTERL association.
BACKGROUND
The VACTERL association (VA) is the non-random co-occurrence of vertebral anomalies, anal atresia, cardiovascular malformations, tracheoesophageal fistula and/or esophageal atresia, renal anomalies, and/or limb anomalies, and is referred to by the first letters of its components. Studies investigating the clinical characteristics of VA patients and probing of the observed current six component types are limited, and none of them is focused on neonates. We investigated the clinical characteristics of our patients diagnosed as having VA in the newborn period.


METHODS
We retrospectively reviewed the neonates whose final diagnosis was VACTERL association. Presence of at least three components of previously reported six anomalies was accepted as VACTERL association. Sex, birthweight, gestational age, postnatal age, anomalies of the systems that are included in VA, and the other features were recorded.


RESULTS
There was a male predominance (14/11) of 28 patients; and there were three patients with ambiguous genitalia. The most common observed VACTERL component was vertebral anomalies (n= 26), followed by anal atresia (n= 19), tracheoesophageal fistula/esophageal atresia (n= 17), renal anomalies (n= 15), limb anomalies (n= 15) and cardiac anomalies (n= 14). The most frequent combination was VCTL (n= 4). Fifteen (57%) patients had non-VACTERL anomalies and the most frequent of these was ambiguous genitalia (n= 3).


CONCLUSIONS
VA patients may have different clinical characteristics in different populations, and clinicians may miss some component features if the patients are evaluated after the neonatal period.
Department of Pediatric Surgery, Faculty of Medicine, Atatürk University, Erzurum, Turkey.
Akgun
A
Oral
Ibrahim
I
Caner
Murat
M
Yigiter
Mecit
M
Kantarci
Hasim
H
Olgun
Naci
N
Ceviz
Ahmet Bedii
AB
Salman
D001003:Anal Canal / Q000002:abnormalities; D004947:Esophagus / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000175:diagnosis*; D008297:Male; D012189:Retrospective Studies; D013131:Spine / Q000002:abnormalities; D014132:Trachea / Q000002:abnormalities