title: PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin A deficiency.
abstract: We observed a 46, XY infant with atrophy of the optic nerve, complex congenital heart disease including a double outlet right ventricle, hypoplasia of the right pulmonary artery and lung, eventration of the diaphragm, and ambiguous genitalia. The baby died of cardiac arrhythmias at 204 days. The pattern of malformations was compatible with pulmonary tract and pulmonary artery, agonadism, omphalocele, diaphragmatic defect, and dextrocardia (PAGOD) syndrome. The condition may resemble the malformation complex associated with developmental deficiency of vitamin A or retinoic acid, as described in animal models.
authors.affiliation: Department of Pediatrics, UCLA School of Medicine, Harbor-UCLA Medical Center, Torrance, California 90502, USA.
authors.forename: Joanne F
authors.initials: JF
authors.lastname: Macayran
authors.forename: Robin W
authors.initials: RW
authors.lastname: Doroshow
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Phillips
authors.forename: Robert M
authors.initials: RM
authors.lastname: Sinow
authors.forename: Benjamin A
authors.initials: BA
authors.lastname: Furst
authors.forename: Lynne M
authors.initials: LM
authors.lastname: Smith
authors.forename: Henry J
authors.initials: HJ
authors.lastname: Lin
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000818:Animals; D003964:Diaphragm / Q000002:abnormalities; D004195:Disease Models, Animal; D017809:Fatal Outcome; D005837:Genitalia, Male / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D007223:Infant; D008168:Lung / Q000002:abnormalities*; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D013577:Syndrome; D014802:Vitamin A Deficiency / Q000151:congenital