Congenital cardiac, pulmonary, and vascular malformations in oculoauriculovertebral dysplasia.
Three cases of oculoauriculovertebral dysplasia (OAV) with associated cardiac, pulmonary, and facial malformations are described. One patient had a rare condition: isolation of the left innominate artery. All 3 had pulmonary anomalies ranging from minor (incomplete lobulation) to major (hypoplasia of the left lung). When pulmonary hypoplasia occurs, it is usually on the same side of the body as the facial anomalies. Forty-five reported cases of OAV with associated cardiac, vascular, and pulmonary abnormalities are reviewed. Tetralogy of Fallot and ventricular septal defect account for half of the cardiac malformations. In the remaining cases, a wide variety of cardiovascular malformations are present. It is suggested that the facial malformations in OAV may result from a perfusion abnormality. An isolated left innominate artery (as in one of our cases) could produce abnormal vascular supply to the external carotid artery and the facial structures that it supplies.
D001165:Arteriovenous Malformations / Q000175:diagnosis*; D016122:Brachiocephalic Trunk / Q000002:abnormalities; D006328:Cardiac Catheterization; D004374:Ductus Arteriosus, Patent / Q000175:diagnosis; D006053:Goldenhar Syndrome / Q000175:diagnosis*; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008168:Lung / Q000002:abnormalities*; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis*; D013771:Tetralogy of Fallot / Q000175:diagnosis; D014188:Transposition of Great Vessels / Q000175:diagnosis