Citation, DOI & article data
This is an autosomal dominant genetic disease resulting from GNAI3 or PLCB4 gene defects. This affects facial development especially the 1st and 2nd pharyngeal arches which include the ears and the mandible.
A characteristic feature is the presence of a “question mark ear”, which is caused by a prominent clubbed pinna with a cleft or notching between the lobule and the helix.
The auricular abnormalities will usually be assessed on physical examination, although as a radiologist, an abnormal morphology of the pinna may be seen on CT.
The mandibular abnormalities may be seen on CT/MRI.
- prominent malformed ears, auricular cleft (question mark ear)
- mandibular condyle aplasia/hypoplasia
- glenoid hypoplasia
- short mandibular rami
- small coronoid processes
- poorly formed TMJs
- relatively specific feature of the disease is a prominent bony ridge along the lateral aspect of the mandible
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