Fenilcetonuria asociada a craneostenosis y fisura palatina

Abstract

A baby male, product of a normal pregnancy with 38 weeks gestation and a birth weight of 2600 g was studied.When 2 months old he was brought into the hospital because of a bronchopneumonia. On physical examination on entry into hospital it was found that he had a cleft palate, microcephaly, white skin and black hair and a generalizad dermatitis.Cranial X-Kays confirmed the existanee of a cranium stenosis and the ferric chloride test as also the aminoacid chromatography in blood and urine permited a diagnosis of phenylketonuria.He was treated with a diet of 1,2 g/kg/day of proteins, there not being to hand special milk formula. He died after being operated on for his cranium stenosis.