PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin A deficiency.
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.
Macayran
Joanne F
JF
Department of Pediatrics, UCLA School of Medicine, Harbor-UCLA Medical Center, Torrance, California 90502, USA.
Doroshow
Robin W
RW
Phillips
Jeffrey
J
Sinow
Robert M
RM
Furst
Benjamin A
BA
Smith
Lynne M
LM
Lin
Henry J
HJ
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