Genes, crian？as e pediatras

a 14 month-old boy presented with failure to thrive and severe mental and motor development delay. on physical examination he presented with severe axial hypotonia and dysmorphic syndrome: peculiar facies with small eyes, micrognathia, raised intermamilar distance. he also had multissistemic involvement with nephritic proteinuria, hypertrophy cardiomiopathy with peri-cardial effusion, raised transaminases, functional deficit of coagulation proteins and unspecific changes of retinal pigmentation. this case illustrates the typical presentation of congenital disorder of glycosilation (cdg) type ia.