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: Joanne F Macayran, Robin W Doroshow, Jeffrey Phillips, Robert M Sinow, Benjamin A Furst, Lynne M Smith, Henry J Lin
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 108 Issue 3 Pg. 229-34 (Mar 15 2002) ISSN: 0148-7299 [Print] United States
• PMID: 11891692 (Publication Type: Case Reports, Comparative Study, Journal Article, Review)

Topics

• Abnormalities, Multiple (genetics, pathology)
• Animals
• Diaphragm (abnormalities)
• Disease Models, Animal
• Fatal Outcome
• Genitalia, Male (abnormalities)
• Heart Defects, Congenital (pathology)
• Humans
• Infant
• Lung (abnormalities)
• Male
• Optic Nerve (abnormalities)
• Syndrome
• Vitamin A Deficiency (congenital)