using criteria put forth by Verloes [1], patients with CHARGE syndrome show varying phenotypes that considerably overlap those of other syndromes such as Kallmann syndrome, VACTERL association (vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb defects), and 22q11.2 deletion syndrome [3,6,7]. Chromosome 22q11.2 deletion i...

BACKGROUND Esophageal replacement in children is an option that is confined to very few situations including long-gap esophageal atresia and esophageal strictures unresponsive to other therapies (peptic or caustic ingestion). The purpose of our work was to describe the experience of gastric transposition in three Italian centers. METHODS This is a retrospective study. The data were extrapolat...

VACTERL association is a rare disorder with various congenital malformations. The aetiology remains unknown. Combination of at least three congenital anomalies of the following criteria is required for diagnosis: vertebral defects, anal atresia, cardiac anomalies, tracheo-esophageal fistula, renal anomalies, and limb defects. The first case was 1-day old male neonate with multiple congenital an...

BACKGROUND The aim of this study was to define different characteristics of infants with esophageal atresia and correlations with neonatal level of care, morbidity and mortality occurring during hospital stay. METHODS Charts of all newborns with esophageal atresia (EA) admitted to our University NICU between January 2003 and November 2016 were reviewed and subdivided in four groups related to...

Long gap oesophageal atresia is a clinically and technically challenging condition to manage. Documentation of the gap between the upper and lower pouches is critical to deciding the timing and feasibility of a primary anastamosis. Integral to this process is the role of radiology. We present a case of long gap oesophageal atresia accompanied by chronological radiography demonstrating its' stag...