Cutis laxa with frontoparietal cortical malformation: A novel type of congenital disorder of glycosylation

This report describes a female infant with cutis laxa, short stature, microcephaly, wide anterior fontanel and bifrontal cortical malformation. Isoelectrofocusing of plasma transferrin and apolipoprotein C-III showed abnormal patterns suggesting defective N- and O-glycosylation. Together with recently reported patients, this patient represents a novel type of congenital disorder of glycosylation.