A patient with median cleft face anomaly and bilateral Goldenhar anomaly.
We describe a girl with a median cleft face anomaly and oculoauriculovertebral "dysplasia" (bilateral Goldenhar anomaly). The facial anomalies in this child are thought to be due to malfusion of neural crest cells of midline, lateral, and oblique facial processes. Disturbances of these migrating waves of neural crest cells may result in maldevelopment of the intercanthal area, nose, lip, palate, lower eyelid, and lateral aspect of mouth and ear. Except for cleft palate, all of these anomalies are present in this case. The child might have a new "syndrome" which we propose be called oculoauriculofrontonasal anomaly.
Musarella
M A
MA
Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada.
Young
I D
ID
D005147:Facial Bones / Q000002:abnormalities* / Q000196:embryology; D005260:Female; D006053:Goldenhar Syndrome / Q000175:diagnosis* / Q000196:embryology; D006801:Humans; D007231:Infant, Newborn; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis*