An interesting case presentation: pulmonary malformations associated with oculoauriculovertebral dysplasia (Goldenhar anomalad).
Oculoauriculovertebral dysplasia (OAV) is a heterogeneous field defect involving the first and second branchial arches and is characterized by microtia, mandibular hypoplasia, vertebral anomalies, and epibulbar dermoids. We report a case of OAV with pulmonary manifestations and review the literature regarding this association. Anomalies identified were previously undescribed tracheal stenosis, along with tracheoesophageal cleft and unilateral pulmonary agenesis. Recognition of the pulmonary malformations associated with OAV may lead clinicians to consider a diagnostic measure such as flexible fiberoptic endoscopy in the evaluation of infants with craniofacial malformations and respiratory distress.
Downing
G J
GJ
University of Missouri-Kansas City Medical School, Children's Mercy Hospital 64108.
Kilbride
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging; D004724:Endoscopy; D005260:Female; D006053:Goldenhar Syndrome / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D014135:Tracheal Stenosis / Q000150:complications* / Q000175:diagnosis