title: Cutis laxa with frontoparietal cortical malformation: a novel type of congenital disorder of glycosylation.
abstract: 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.
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago 683-8504, Japan. oknsokns@grape.med.tottori-u.ac.jp
authors.forename: Tohru
authors.initials: T
authors.lastname: Okanishi
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Saito
authors.forename: Isao
authors.initials: I
authors.lastname: Yuasa
authors.forename: Mazumi
authors.initials: M
authors.lastname: Miura
authors.forename: Ikuo
authors.initials: I
authors.lastname: Nagata
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Maegaki
authors.forename: Kousaku
authors.initials: K
authors.lastname: Ohno
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood / Q000473:pathology / Q000503:physiopathology*; D053305:Apolipoprotein C-III / Q000097:blood; D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood / Q000473:pathology / Q000503:physiopathology*; D002540:Cerebral Cortex / Q000002:abnormalities*; D003483:Cutis Laxa / Q000151:congenital*; D005260:Female; D006031:Glycosylation; D006801:Humans; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D008279:Magnetic Resonance Imaging; D014168:Transferrin / Q000032:analysis
chemical_list: D053305:Apolipoprotein C-III; D014168:Transferrin