Oculo-auriculo-vertebral spectrum malformation and contralateral absence of internal carotid artery.
We report a 50 year old mildly retarded male with right sided hemifacial microsomia, vertebral defects and absence of the left internal carotid artery. It is very unlikely that the congenital vascular abnormality on the left side in this patient is responsible for the right sided congenital facial abnormalities. Therefore we discuss the possibility that abnormal migration of or interaction with cells of the cranial neural crest has resulted in absence of the internal carotid artery on the left side and oculo-auriculo-vertebral spectrum malformation on the right side.
Legius
E
E
Center for Human Genetics, University of Leuven, Belgium.
Hellemans
M
M
Wilms
G
G
Tillemans
B
B
Fryns
J P
JP
D015901:Angiography, Digital Subtraction; D002343:Carotid Artery, Internal / Q000002:abnormalities*; D002533:Cerebral Angiography; D002544:Cerebral Infarction / Q000175:diagnosis / Q000235:genetics; D005146:Facial Asymmetry / Q000175:diagnosis / Q000235:genetics; D006053:Goldenhar Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010641:Phenotype