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Minerva Pediatrica 2012 October;64(5):541-3

language: English

Tetralogy of Fallot variant with pulmonary atresia (pseudotruncus arteriosus) in a case of maternal PKU syndrome

Pavone P. 1, Praticò A. D. 2, Bianca I. 3, Raffaele R. 4, Vecchio I. 4, Salafia S. 2, Praticò E. R. 2, Incorpora G. 2

1 Unit of Pediatrics and Pediatric Emergency “Costanza Gravina”, Vittorio Emanuele-Policlinico University Hospital, Catania, Italy;
2 Department of Pediatrics, University of Catania, Catania, Italy;
3 Department of Pediatrics, San Vincenzo Hospital, Taormina, Messina, Italy;
4 Department of Neurological Sciences, University of Catania, Catania, Italy


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The authors report on a child with a rare variant of the Tetralogy of Fallot with pulmonary atresia also known as Pseudotruncus arteriosus, who was born by a mother affected by classic phenylketonuria (PKU), diet free of phenylalanine untill the age of seven years. According to the authors, this is the first example of such rare variant in an offspring of maternal PKU syndrome.

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