title: [Digestive malformations and their associations to syndrome condition and genetic defects].
abstract: BACKGROUND
  The incidence of disease syndromes and genetic defects in patients with malformations is much higher than in the general population. We reviewed our experience in infants with gastrointestinal malformations to know the incidence of genetic defects and syndromic presentation, for purposes of carrying out the most complete assessment and treatment.
  
  
  METHODS
  We recruited 161 patients with one or more malformations or congenital gastrointestinal pathology. We evaluated: type of malformation (isolated or syndromic), association with polimalformative complex, genetic testing and its results.
  
  
  RESULTS
  The main diagnosis, from highest to lowest incidence, is intestinal malrotation (17.18%), Hirschsprung's disease (13.64%), Meckel's diverticulum (13.14%), oesophageal atresia (12.13%), anorectal malformation (11.12%), diaphragmatic hernia (6.57%), duodenal atresia (5.56%), small bowel atresia (4.55%), omphalocele (4.04), and other (12.07%). In 45.3% the malformation is not isolated. 27.4% appear as syndrome, 4.1% as development defect and 2.7% as association. Genetic study was performed in 30.43%, detecting defects in 36.7% of the studies. Down syndrome (n = 8) is the most frequent.
  
  
  CONCLUSIONS
  Our experience with these patients is similar to that provided in the literature. We consider that it is important to identify any associated anomalies, especially heart disease, craniofacial anomalies and other gastrointestinal malformations, because they condition the patient's management. Pathologies that are often associated with other defects require more effort for their detection. The knowledge of these patients is essential for correct treatment.
authors.affiliation: Hospital Materno Infantil Infanta Cristina, SES, UEX, Grupo de Investigación en Pediatría (PAIDOS) (CTS 019), Badajoz. evusqui@hotmail.com
authors.forename: E
authors.initials: E
authors.lastname: Enríquez Zarabozo
authors.forename: E
authors.initials: E
authors.lastname: Blesa Sánchez
authors.forename: R
authors.initials: R
authors.lastname: Ayuso Velasco
authors.forename: E
authors.initials: E
authors.lastname: Galán Gómez
mesh_terms: D003430:Cross-Sectional Studies; D004065:Digestive System Abnormalities / Q000150:complications / Q000235:genetics*; D004066:Digestive System Diseases / Q000150:complications / Q000151:congenital* / Q000235:genetics*; D006801:Humans; D007223:Infant; D012189:Retrospective Studies; D013577:Syndrome