A 7-year-old boy with Goldenhar syndrome with post-natal genetic diagnosis was referred to our Department of Radiology for imaging study of the temporal bone.
The patient underwent a 3D-CT scan.
Brilliance CT-64-channel (Philips Medical Systems, Amsterdam, The Netherlands) was employed.
The protocol generated 120 kV and a current of 150 mA.
Slice thickness of the images was 1-mm with a 0.5-mm increment.
Images in DICOM format were processed on a PC using commercial software, obtaining a three-dimensional reconstruction of skeletal structures.
The 3-dimensional reconstruction of the skin plans showed hypoplasia of the auricle that on the right side consisted of a simple dysmorphic rough.
The left auricle had regular dimensions and morphology.
Atresia of the right auditory conduit and a normal left auditory conduit were observed.
The upper images showed partial ossification of the cranium typical in paediatric age.
Description of the profile: typical II class very convex profile with interposition of the inferior lip and a reduced neck-chin angle.(Fig.1).
Skeletal studies show that the mandibular condyle, ramus and corpus were shorter on the affected side.
Tilting of oral rhyme, occlusal plane and mandibular plane were evident.
Number or form abnormalities were not found during mixed dentition.
Mandibular condyles and temporo-mandibular joints seemed to be asymmetric, and in particular the right condyle was deformed, shorter and wider than the other side (mandibular condyle dimensions were 11 × 7 mm right and 14 × 7 mm left).
The 3-dimensional reconstruction of the skeleton planes showed the different morphology of the right and left hemimandibula.
Mandibular 3-dimensional reconstruction showed in detail the shift of the medial axis to the hypoplastic right side and the asymmetry of the right mandibular condyles that appears dysmorphic short and wide in axial and coronal scansions (Figs.2, 3).
The study of the temporal bone showed on the right side an external auditory canal atresia, hypoplasia of tympanic cavity that was not pneumatized and occupied by dense materials from soft parts.
No pneumatization was present in right mastoid cells.
Left external auditory canal dimensions and morphology were normal.
The left tympanic cavity was normally formed and totally occupied by dense materials from soft tissues.
Both right and left ears presented minor hypoplasia of auricle bones in the right side.
In agreement with the resolution of our instrument, normal representation of the malleus head that seemed articulated with a dysmorphic rough of a deformed incus was observed; it was impossible to see the staples.
The left malleus and incus were visible and appeared to be articulated in an abnormal manner (reduce contact surface); the staples was difficult to observe but seemed to have regular morphology.
Dimensions and morphology of cochlea semicircular canals, vestibulum and utriculum were unaltered (Figs.4-​7).
In conclusion, through 3D-CT valuation of this young patient we observed asymmetry of the condyles; in particular, the right condyle was dysmorphic, short and wide; the auricle of the right external ear was hypoplastic, only a dysmorphic rough was present; the right middle ear had a hypoplastic tympanic cavity; the right internal ear has an atresic auditory conduit.