title: Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?
abstract: BACKGROUND
  VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies.
  
  
  METHODS
  Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL anomalies (VACTERL-type) and non tipical VACTERL anomalies (non-VACTERL-type). The inclusion criterion was the presence of EA with or without TEF plus two or more of the following additional malformations: vertebral defects, anal atresia, cardiovascular defects, renal anomalies and lower limb deformities, like radial dysplasia.
  
  
  RESULTS
  Among 52 patients with EA/TEF, 20 (38,4%) had isolated EA and 7 (21,8%) had a recognized etiology such a syndrome and therefore were excluded. Among 32 infants with EA and associated malformations, 15 (46,8%) had VACTERL association. The most common anomalies were congenital heart defects (73,3%), followed by vertebral anomalies (66,6%). Many patients also had additional non-VACTERL-type defects. Single umbilical artery was the most common one followed by nervous system abnormalities and anomalies of toes. Between the groups of infants with VACTERL type and non-VACTERL-type anomalies, there are several overlapping data regarding both the tipically described spectrum and the most frequently reported non-VACTERL-type malformations. Thus, it is possible to differentiate infants with a full phenotype (VACTERL full phenotype) and patients that do not meet all the criteria mentioned above, but with some homologies with the first group (VACTERL partial phenotype).
  
  
  CONCLUSIONS
  The high frequency of non-VACTERL-type anomalies encountered in full and partial phenotype patients would suggest the need for an extension of the clinical criteria for the diagnosis of VACTERL association and also for pre- and post-operative management and follow-up in the short and long term.
authors.affiliation: Department of Sciences for Health Promotion and Mother and Child Care, Università di Palermo, Via Alfonso Giordano 3, 90127 Palermo, Italy. simonalaplaca@libero.it
authors.forename: Simona
authors.initials: S
authors.lastname: La Placa
authors.forename: Mario
authors.initials: M
authors.lastname: Giuffrè
authors.forename: Antonella
authors.initials: A
authors.lastname: Gangemi
authors.forename: Stefania
authors.initials: S
authors.lastname: Di Noto
authors.forename: Federico
authors.initials: F
authors.lastname: Matina
authors.forename: Federica
authors.initials: F
authors.lastname: Nociforo
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Antona
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Di Pace
authors.forename: Maria
authors.initials: M
authors.lastname: Piccione
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
mesh_terms: D001003:Anal Canal / Q000002:abnormalities*; D001006:Anus, Imperforate / Q000175:diagnosis / Q000453:epidemiology; D004933:Esophageal Atresia / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D004947:Esophagus / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007363:Intensive Care Units, Neonatal / Q000706:statistics & numerical data; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D009421:Nervous System Malformations / Q000175:diagnosis / Q000453:epidemiology; D010641:Phenotype; D015995:Prevalence; D012189:Retrospective Studies; D012802:Sicily / Q000453:epidemiology; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D014132:Trachea / Q000002:abnormalities*; D014469:Umbilical Arteries / Q000002:abnormalities